KEGG   Homo sapiens (human): 23136
Entry
23136             CDS       T01001                                 
Symbol
EPB41L3, 4.1B, DAL-1, DAL1
Name
(RefSeq) erythrocyte membrane protein band 4.1 like 3
  KO
K23961  band 4.1-like protein 1/2/3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01936  CNTN1 interactions
N01937  CNTN2 interactions
N01953  NECL1 interactions
N01954  NECL2 interactions
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    23136 (EPB41L3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    23136 (EPB41L3)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  FERM domain-containing proteins
   23136 (EPB41L3)
SSDB
Motif
Pfam: 4_1_CTD FERM_C FERM_M FERM_N SAB FA Beta-prop_SPT8 RA_2 YAcAr RNA_pol_Rpc4
Other DBs
NCBI-GeneID: 23136
NCBI-ProteinID: NP_036439
OMIM: 605331
HGNC: 3380
Ensembl: ENSG00000082397
UniProt: Q9Y2J2
Structure
LinkDB
Position
18:complement(5392386..5630663)
AA seq 1087 aa
MTTESGSDSESKPDQEAEPQEAAGAQGRAGAPVPEPPKEEQQQALEQFAAAAAHSTPVRR
EVTDKEQEFAARAAKQLEYQQLEDDKLSQKSSSSKLSRSPLKIVKKPKSMQCKVILLDGS
EYTCDVEKRSRGQVLFDKVCEHLNLLEKDYFGLTYRDAENQKNWLDPAKEIKKQVRSGAW
HFSFNVKFYPPDPAQLSEDITRYYLCLQLRDDIVSGRLPCSFVTLALLGSYTVQSELGDY
DPDECGSDYISEFRFAPNHTKELEDKVIELHKSHRGMTPAEAEMHFLENAKKLSMYGVDL
HHAKDSEGVEIMLGVCASGLLIYRDRLRINRFAWPKVLKISYKRNNFYIKIRPGEFEQFE
STIGFKLPNHRAAKRLWKVCVEHHTFFRLLLPEAPPKKFLTLGSKFRYSGRTQAQTRRAS
ALIDRPAPYFERSSSKRYTMSRSLDGEVGTGQYATTKGISQTNLITTVTPEKKAEEERDE
EEDKRRKGEEVTPISAIRHEGKSPGLGTDSCPLSPPSTHCAPTSPTELRRRCKENDCKLP
GYEPSRAEHLPGEPALDSDGPGRPYLGDQDVAFSYRQQTGKGTTLFSFSLQLPESFPSLL
DDDGYLSFPNLSETNLLPQSLQHYLPIRSPSLVPCFLFIFFFLLSASFSVPYALTLSFPL
ALCLCYLEPKAASLSASLDNDPSDSSEEETDSERTDTAADGETTATESDQEEDAELKAQE
LEKTQDDLMKHQTNISELKRTFLETSTDTAVTNEWEKRLSTSPVRLAARQEDAPMIEPLV
PEETKQSSGEKLMDGSEIFSLLESARKPTEFIGGVTSTSQSWVQKMETKTESSGIETEPT
VHHLPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEG
AKEEGGEEVAKAVLEQEETAAASRERQEEQSAAIHISETLEQKPHFESSTVKTETISFGS
VSPGGVKLEISTKEVPVVHTETKTITYESSQVDPGTDLEPGVLMSAQTITSETTSTTTTT
HITKTVKGGISETRIEKRIVITGDADIDHDQALAQAIKEAKEQHPDMSVTKVVVHKETEI
TPEDGED
NT seq 3264 nt   +upstreamnt  +downstreamnt
atgacgaccgaatctggatcagactcggaatccaagccggaccaggaggccgagccccag
gaggcggcgggggcgcaggggcgcgcgggggcgcccgtgccggagccgcccaaggaggag
cagcagcaggccctggagcagttcgccgccgctgcagcgcacagcaccccggtgcggagg
gaggtcactgacaaggaacaggagtttgctgccagggctgcaaaacagctcgaatatcag
caattagaagacgataaactttctcagaaatcatctagcagtaaactctctcggtctcca
ttaaagattgtcaaaaagcctaaaagcatgcagtgcaaagtgatacttctcgatggatca
gaatatacctgtgatgtagagaaacgctccagaggacaagtgctgtttgataaagtgtgt
gaacacttgaacttgctagagaaagactactttgggcttacgtatcgagatgctgaaaac
cagaagaattggttggaccctgctaaggaaataaaaaaacaggttcgaagtggtgcttgg
cacttttcatttaatgtgaaattttatccaccagaccctgcccaactatctgaagatatc
accaggtactacctctgcttgcagttgcgagatgacatcgtgtccggaaggctgccctgc
tcctttgttaccctggccttgctgggctcctacactgtccagtcagagctcggagactat
gacccagatgaatgtgggagcgattacattagtgagttccgctttgcaccaaaccacact
aaagaactggaagacaaagtgatcgagctgcacaagagccacagaggaatgacgccagca
gaagcagagatgcatttcttggaaaatgccaaaaaattatcaatgtatggggtagattta
catcatgctaaggactcagaaggggtagaaattatgttaggagtttgtgcaagtggtctg
ttgatatatcgcgaccggctgcgaataaacagatttgcctggcccaaggttctaaagatt
tcatacaaacggaacaacttttacattaagatccggccgggagagtttgaacaatttgaa
agcaccattgggtttaagctgccaaaccatcgagctgccaagcgtttatggaaagtatgt
gttgagcatcatacatttttcagactactgttaccagaagcacctcccaagaaattccta
accttgggttccaagtttcgttatagtggcaggacacaagcgcaaacgagaagagccagt
gcgttgatagatcgcccagcaccttactttgaacgctcatccagcaaacgttataccatg
tctcgcagcttggatggagaggttggtactggccagtacgccacaacaaaaggcatctct
cagaccaacttgatcaccactgtgactccggagaagaaggctgaggaggagcgggacgag
gaagaggacaaacggaggaagggggaagaagtcacgcccatctcggccatccggcacgag
ggaaagtcacctgggcttggcactgactcatgtcccttgtcacccccatccacccattgt
gcccccacatctcccacagagctccgtaggaggtgtaaggagaatgactgcaaactgcca
ggttatgagccgtccagagctgagcacctgcctggagagcccgccttggactctgatggc
ccagggaggccttacctaggggatcaagatgtggcttttagctacagacagcaaactggc
aaggggaccaccctgttctccttctccttgcagctccctgagtcattcccctccctccta
gatgatgatggatacctctctttccccaacctttctgaaaccaacctcctgccccagagc
ttgcagcattacctcccgatccgctcaccgtcccttgtgccctgtttcctcttcatcttt
ttctttctgctgtctgcctccttctcagtgccatacgctctcactctctccttccctctg
gctctgtgcctctgctacctggagcccaaggcggcctccttgagcgcctccctagacaat
gacccgagtgacagttcagaggaagagactgacagtgagcgcacggacaccgcagccgac
ggggagaccactgccactgagtcggaccaggaggaagatgcagagctcaaggcacaggag
ctagaaaaaactcaagatgacctgatgaaacatcaaaccaacattagcgagctgaaaaga
accttcttagaaacctcaacagacactgccgtaacgaatgaatgggagaagaggctttcc
acctcccccgtgcgactggccgccaggcaggaggatgcccccatgatcgaaccacttgtc
cctgaagagactaagcagtcttctggggaaaagctcatggatggctctgaaatcttcagt
ttattagagtctgcgcgaaaaccaacagaattcataggaggggttacttctacttctcaa
agctgggttcagaaaatggaaaccaagacggagtccagtggaatagagacggaacccacc
gtgcaccacctgccgcttagcactgagaaggtggtgcaggagaccgtgttggtggaggag
cggcgtgtggtgcacgcgagtggggatgcttcttactcggcgggagacagcggggatgct
gcagcacagcccgcattcacaggcattaaagggaaagagggctctgccttgacggagggg
gctaaagaggaaggaggggaggaggtcgctaaagctgtcctggaacaggaagagacagcc
gctgcttcccgtgagcgacaagaggagcagagtgcagccatccacatttcagaaactttg
gaacaaaaacctcattttgagtcctcaacggtgaagacggaaaccatcagttttggcagt
gtttcaccgggaggagtaaagctagaaatttccacgaaggaagtgccagtagttcacacc
gaaaccaaaaccatcacatatgaatcatcacaggtcgatccaggcacagatctggagcca
ggcgtgctgatgagtgcacagacgatcacatctgaaaccaccagtaccaccaccactacg
cacatcaccaaaactgtgaaagggggcatttcagagacaagaattgagaagcgaatagtc
atcacgggggatgcagacattgaccatgaccaggcgctggctcaggcaattaaagaggcc
aaagagcagcaccctgacatgtcagtgaccaaagtagtggtccataaagagacagagatc
acaccagaagatggagaggattga

KEGG   Homo sapiens (human): 6709
Entry
6709              CDS       T01001                                 
Symbol
SPTAN1, DEE5, DEVEP, EIEE5, HMN11, HMND11, NEAS, SPG91, SPTA2
Name
(RefSeq) spectrin alpha, non-erythrocytic 1
  KO
K06114  spectrin alpha, non-erythrocytic (fodrin)
Organism
hsa  Homo sapiens (human)
Pathway
hsa04210  Apoptosis
hsa04517  IgSF CAM signaling
hsa04820  Cytoskeleton in muscle cells
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
  Element
N01848  Membrane-associated periodic skeleton (MPS)
N01933  NrCAM interactions
N01934  L1CAM interactions
N01935  NFASC interactions
N01936  CNTN1 interactions
N01937  CNTN2 interactions
Disease
H00266  Hereditary spastic paraplegia
H00606  Early infantile epileptic encephalopathy
H00856  Distal hereditary motor neuropathies
H02989  Developmental delay with or without epilepsy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    6709 (SPTAN1)
 09140 Cellular Processes
  09143 Cell growth and death
   04210 Apoptosis
    6709 (SPTAN1)
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6709 (SPTAN1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    6709 (SPTAN1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     6709 (SPTAN1)
  Intermediate filaments
   Intermediate filament-binding proteins
    6709 (SPTAN1)
SSDB
Motif
Pfam: Spectrin EFhand_Ca_insen SH3_1 EF-hand_1 EF-hand_7 EF-hand_6 SH3_9 EF-hand_8 SH3_2 EF-hand_5 SH3_3 SH3_10 SCO1-SenC Tetrabrachion
Other DBs
NCBI-GeneID: 6709
NCBI-ProteinID: NP_003118
OMIM: 182810
HGNC: 11273
Ensembl: ENSG00000197694
UniProt: Q13813
Structure
LinkDB
Position
9:128552587..128633662
AA seq 2472 aa
MDPSGVKVLETAEDIQERRQQVLDRYHRFKELSTLRRQKLEDSYRFQFFQRDAEELEKWI
QEKLQIASDENYKDPTNLQGKLQKHQAFEAEVQANSGAIVKLDETGNLMISEGHFASETI
RTRLMELHRQWELLLEKMREKGIKLLQAQKLVQYLRECEDVMDWINDKEAIVTSEELGQD
LEHVEVLQKKFEEFQTDMAAHEERVNEVNQFAAKLIQEQHPEEELIKTKQDEVNAAWQRL
KGLALQRQGKLFGAAEVQRFNRDVDETISWIKEKEQLMASDDFGRDLASVQALLRKHEGL
ERDLAALEDKVKALCAEADRLQQSHPLSATQIQVKREELITNWEQIRTLAAERHARLNDS
YRLQRFLADFRDLTSWVTEMKALINADELASDVAGAEALLDRHQEHKGEIDAHEDSFKSA
DESGQALLAAGHYASDEVREKLTVLSEERAALLELWELRRQQYEQCMDLQLFYRDTEQVD
NWMSKQEAFLLNEDLGDSLDSVEALLKKHEDFEKSLSAQEEKITALDEFATKLIQNNHYA
MEDVATRRDALLSRRNALHERAMRRRAQLADSFHLQQFFRDSDELKSWVNEKMKTATDEA
YKDPSNLQGKVQKHQAFEAELSANQSRIDALEKAGQKLIDVNHYAKDEVAARMNEVISLW
KKLLEATELKGIKLREANQQQQFNRNVEDIELWLYEVEGHLASDDYGKDLTNVQNLQKKH
ALLEADVAAHQDRIDGITIQARQFQDAGHFDAENIKKKQEALVARYEALKEPMVARKQKL
ADSLRLQQLFRDVEDEETWIREKEPIAASTNRGKDLIGVQNLLKKHQALQAEIAGHEPRI
KAVTQKGNAMVEEGHFAAEDVKAKLHELNQKWEALKAKASQRRQDLEDSLQAQQYFADAN
EAESWMREKEPIVGSTDYGKDEDSAEALLKKHEALMSDLSAYGSSIQALREQAQSCRQQV
APTDDETGKELVLALYDYQEKSPREVTMKKGDILTLLNSTNKDWWKVEVNDRQGFVPAAY
VKKLDPAQSASRENLLEEQGSIALRQEQIDNQTRITKEAGSVSLRMKQVEELYHSLLELG
EKRKGMLEKSCKKFMLFREANELQQWINEKEAALTSEEVGADLEQVEVLQKKFDDFQKDL
KANESRLKDINKVAEDLESEGLMAEEVQAVQQQEVYGMMPRDETDSKTASPWKSARLMVH
TVATFNSIKELNERWRSLQQLAEERSQLLGSAHEVQRFHRDADETKEWIEEKNQALNTDN
YGHDLASVQALQRKHEGFERDLAALGDKVNSLGETAERLIQSHPESAEDLQEKCTELNQA
WSSLGKRADQRKAKLGDSHDLQRFLSDFRDLMSWINGIRGLVSSDELAKDVTGAEALLER
HQEHRTEIDARAGTFQAFEQFGQQLLAHGHYASPEIKQKLDILDQERADLEKAWVQRRMM
LDQCLELQLFHRDCEQAENWMAAREAFLNTEDKGDSLDSVEALIKKHEDFDKAINVQEEK
IAALQAFADQLIAAGHYAKGDISSRRNEVLDRWRRLKAQMIEKRSKLGESQTLQQFSRDV
DEIEAWISEKLQTASDESYKDPTNIQSKHQKHQAFEAELHANADRIRGVIDMGNSLIERG
ACAGSEDAVKARLAALADQWQFLVQKSAEKSQKLKEANKQQNFNTGIKDFDFWLSEVEAL
LASEDYGKDLASVNNLLKKHQLLEADISAHEDRLKDLNSQADSLMTSSAFDTSQVKDKRD
TINGRFQKIKSMAASRRAKLNESHRLHQFFRDMDDEESWIKEKKLLVGSEDYGRDLTGVQ
NLRKKHKRLEAELAAHEPAIQGVLDTGKKLSDDNTIGKEEIQQRLAQFVEHWKELKQLAA
ARGQRLEESLEYQQFVANVEEEEAWINEKMTLVASEDYGDTLAAIQGLLKKHEAFETDFT
VHKDRVNDVCTNGQDLIKKNNHHEENISSKMKGLNGKVSDLEKAAAQRKAKLDENSAFLQ
FNWKADVVESWIGEKENSLKTDDYGRDLSSVQTLLTKQETFDAGLQAFQQEGIANITALK
DQLLAAKHVQSKAIEARHASLMKRWSQLLANSAARKKKLLEAQSHFRKVEDLFLTFAKKA
SAFNSWFENAEEDLTDPVRCNSLEEIKALREAHDAFRSSLSSAQADFNQLAELDRQIKSF
RVASNPYTWFTMEALEETWRNLQKIIKERELELQKEQRRQEENDKLRQEFAQHANAFHQW
IQETRTYLLDGSCMVEESGTLESQLEATKRKHQEIRAMRSQLKKIEDLGAAMEEALILDN
KYTEHSTVGLAQQWDQLDQLGMRMQHNLEQQIQARNTTGVTEEALKEFSMMFKHFDKDKS
GRLNHQEFKSCLRSLGYDLPMVEEGEPDPEFEAILDTVDPNRDGHVSLQEYMAFMISRET
ENVKSSEEIESAFRALSSEGKPYVTKEELYQNLTREQADYCVSHMKPYVDGKGRELPTAF
DYVEFTRSLFVN
NT seq 7419 nt   +upstreamnt  +downstreamnt
atggacccaagtggggtcaaagtgctggaaacagcagaggacatccaggagaggcggcag
caggtcctagaccgataccaccgcttcaaggaactctcaacccttaggcgtcagaagctg
gaagattcctatcgattccagttctttcaaagagatgctgaagagctggagaaatggata
caggaaaaacttcagattgcatctgatgagaattataaagacccaaccaacttgcaggga
aagcttcagaagcatcaagcatttgaagctgaagtgcaggccaactcaggagccattgtt
aagctggatgaaactggaaacctgatgatctcagaagggcattttgcatctgaaaccata
cggacccgtttgatggagctgcaccgccagtgggaattacttttggagaagatgcgagaa
aaaggaatcaaactgctgcaggcccagaagttggtgcagtacttacgagaatgtgaggac
gtgatggactggatcaatgacaaggaagcaattgttacttctgaagagctgggccaggat
ctggagcatgtagaggttttacagaagaaatttgaagagtttcaaacagatatggctgct
catgaagaaagagttaatgaagtgaaccagtttgctgccaaactcatacaggagcagcac
cctgaggaggaactgatcaagactaagcaggatgaagtcaatgcagcctggcagcggctg
aagggcctggctctgcagaggcaggggaagctctttggggcagcagaagttcagcgcttt
aacagggatgtggatgagactatcagttggattaaggaaaaggagcagttaatggcctct
gatgattttggccgagacctggcaagtgttcaggctctgcttcggaagcacgagggtctg
gagagagatcttgctgctctagaagacaaggtcaaagccctgtgtgctgaggctgaccgc
ctgcaacagtcccaccctctgagtgcaacacagattcaagtgaagcgagaggaactgatt
acaaactgggagcagatccgcaccttggcggcagagagacatgcacggctcaatgattca
tacaggcttcaacgcttccttgctgacttccgtgacctcaccagctgggtgactgagatg
aaagccctcatcaatgcagatgagcttgccagtgatgtggctggggctgaagccctgcta
gatagacaccaagagcacaagggtgaaattgatgcccatgaagacagcttcaaatctgca
gatgaatctggacaggcactgcttgctgctggtcactatgcctcagatgaagtgagggag
aagctgaccgtcctttccgaggagagagcggcgctgctggagctgtgggagctgcgcagg
cagcagtacgagcagtgcatggacctgcagctcttctaccgggacactgagcaggtggac
aactggatgagcaagcaggaggcgttcctgttgaatgaagacttgggagattccttggat
agtgtggaagcgcttcttaagaagcacgaagactttgagaaatcccttagtgcccaggag
gaaaagattacagcattagatgaatttgcaaccaagctaattcagaacaaccactatgca
atggaagatgtggccactcgccgagatgctctgttgagccgccgcaatgcccttcacgag
agagccatgcgtcgccgggcccagctagccgattctttccatctgcagcagtttttccgt
gattctgatgagctcaagagttgggtcaatgagaagatgaaaactgccacagatgaagct
tataaagatccatccaacctacaaggaaaagtacagaagcatcaggcttttgaggctgag
ctctcagcaaaccagagccgaattgatgccttggagaaagctggccaaaagctgattgat
gtcaaccactatgccaaggatgaagtggcagctcgtatgaatgaggtgatcagtttgtgg
aagaaactgctagaggccactgaactgaaaggaataaagcttcgtgaagccaaccagcaa
cagcaatttaatcgcaatgttgaggatattgaattgtggctatatgaagtagaaggtcac
ttggcttcggatgattacggcaaagatcttaccaatgtgcagaacctccagaagaaacat
gcactgctagaggcagatgtggctgctcaccaggaccgaattgatggcatcaccattcag
gcccgccagttccaagatgctggccattttgatgcagaaaacatcaagaagaaacaggaa
gccctcgtggctcgctatgaggcactcaaggagcccatggttgcccggaagcagaagctg
gccgattctctgcggttgcagcagctcttccgggatgttgaggatgaggagacgtggatt
cgagagaaagagcccattgccgcatctaccaacagaggtaaggatttaattggggtccag
aatctgctaaagaaacatcaagccttacaagcagaaattgctggacatgaaccacgcatc
aaagcagttacacagaaggggaatgccatggtggaggaaggccattttgctgcagaggat
gtgaaggccaagcttcacgagctgaaccaaaagtgggaggcactgaaagccaaagcttcc
cagcgtcggcaggacctggaggactctctgcaggcccagcagtactttgctgatgctaac
gaggctgaatcctggatgcgggagaaggaacccattgtgggcagcactgactatggcaag
gacgaagactctgctgaggctctactgaagaaacacgaagctttgatgtcagatctcagt
gcctacggcagcagcatccaggctttgcgagaacaagcacagtcctgccggcaacaagtg
gcccccacggatgatgagactgggaaggagctggtcttggctctctacgactatcaggag
aagagtccccgagaggtcaccatgaagaagggagatatccttaccttactcaacagcacc
aacaaggattggtggaaagtggaagtgaacgatcgtcagggttttgtgccggctgcgtac
gtgaagaaattggaccccgcccagtcagcctcccgggagaatctcctggaggagcaaggc
agcatagcactgcggcaggagcagattgacaatcagacacgcataactaaggaggccggc
agtgtatctctgcgtatgaagcaggtggaagaactatatcattctctgctggaactgggt
gagaagcgtaaaggcatgttggagaagagttgcaagaagtttatgttgttccgtgaagcg
aatgaactacagcaatggatcaatgagaaggaagccgctctgacaagtgaggaggtcgga
gcagacttggagcaggttgaggtgctccagaagaagtttgatgacttccagaaggacctg
aaggccaatgagtcacggttgaaggacattaacaaggtagctgaagacctggagtctgaa
ggtctcatggcagaggaggtgcaggctgtgcaacaacaggaagtgtatggcatgatgccc
agggatgaaactgattccaagacagcctccccgtggaagtctgctcgtctgatggttcac
accgtggccacctttaattccatcaaggagctgaatgagcgctggcggtccctacagcag
ctggccgaggaacggagccagctcttgggcagcgcccatgaagtacagaggttccacaga
gatgctgatgaaaccaaagaatggattgaagagaagaatcaagctctaaacacagacaat
tatggacatgatctcgccagtgtccaggccctgcaacgcaagcatgagggcttcgagagg
gaccttgcggctctcggtgacaaggtaaactcccttggtgaaacagcagagcgcctgatc
cagtcccatcccgagtcagcagaagacctgcaggaaaagtgcacagagttaaaccaggcc
tggagcagcctggggaaacgtgcagatcagcgcaaggcaaagttgggtgactcccacgac
ctgcagcgcttccttagcgatttccgggacctcatgtcttggatcaatggaatacggggg
ttggtgtcctcagatgagctagccaaggatgtcaccggagctgaggcattgctggagcga
caccaggaacaccggacagaaatcgatgccagggctggcactttccaggcatttgagcag
tttggacagcagctgttggctcacggacactatgccagccctgagatcaagcagaaactt
gatattcttgaccaggagcgtgcagacctggagaaggcctgggttcagcgcaggatgatg
ctggatcagtgccttgaactgcagctgttccatcgggactgtgagcaagctgagaactgg
atggctgcccgggaggccttcttgaataccgaagacaaaggagactcactggacagcgta
gaggctctgatcaaaaaacatgaagactttgacaaagcgattaacgtccaggaagagaag
attgctgctctgcaggcctttgccgaccagctcatcgctgccggccattatgccaaggga
gacatttctagccggcgcaatgaggtcttggacaggtggcgacgtctgaaagcccagatg
attgagaaaaggtcaaagctaggagaatctcaaaccctccaacagttcagccgggatgtg
gatgagattgaggcttggatcagtgaaaaattgcaaacagcgagtgatgagtcgtacaag
gatcccaccaacatccagagcaagcaccagaagcaccaggcttttgaagcagagctgcat
gccaacgctgaccggatccgtggggttatcgacatgggcaactccctcattgaacgtgga
gcctgtgccggcagtgaggatgctgtcaaggcccgcctggctgccttagctgaccagtgg
cagttcttggtgcaaaagtcagcggaaaagagccagaaactgaaagaagccaacaagcag
cagaacttcaacacagggatcaaggactttgacttctggctgtctgaggtggaggccctg
ctggcatccgaagattatggcaaagacctagcttctgtgaacaacctgctgaaaaagcat
caactgctggaagcagatatatctgcccatgaggatcgcctgaaggacctgaacagccag
gcagacagcctgatgaccagcagtgccttcgacacctcccaagtaaaggacaagagggac
accatcaacgggcgcttccagaagatcaagagcatggcggcctcccggcgagccaagctg
aatgaatcccatcgcctgcaccagttcttccgggacatggatgacgaggagtcctggatc
aaggagaagaagctgctggtgggctcagaggactacggccgggacctaaccggcgtgcag
aacctgaggaagaagcacaagcggctggaagcagaactggctgcgcatgagccggctatt
cagggtgtcctggacactggcaagaagctgtccgatgacaacaccatcgggaaagaggag
atccagcagcggctggcgcagtttgtggagcactggaaagagctgaagcagctggcagct
gcccggggtcagcggctggaagagtccttggaatatcagcagtttgtagccaatgtggaa
gaggaagaagcctggatcaatgagaaaatgaccctggtggccagcgaagattatggcgac
actcttgccgccatccagggcttactgaagaaacatgaagcttttgagacagacttcacc
gtccacaaggatcgcgtgaatgatgtctgcaccaatggacaagacctcattaagaagaac
aatcaccatgaggagaacatctcttcaaagatgaagggcctgaacgggaaagtgtcagac
ctggagaaagctgcagcccagagaaaggcgaagctggatgagaactcggccttccttcag
ttcaactggaaggcggacgtggtggagtcctggatcggtgaaaaggagaacagcttgaag
acagatgattatggccgagacctgtcttctgtgcagacgctcctcaccaaacaggaaact
tttgacgctgggctgcaggccttccagcaggaaggcattgccaacatcactgccctcaaa
gatcagcttctcgccgccaaacacgttcagtccaaggccatcgaggcccggcacgcctcc
ctcatgaagaggtggagccagcttctggccaactcagccgcccgcaagaagaagcttctg
gaggctcagagtcacttccgcaaggtggaggacctcttcctgaccttcgccaaaaaggct
tctgccttcaacagctggtttgaaaatgcagaggaggacttaacagaccccgtgcgctgc
aactccttggaagaaatcaaagctttgcgcgaggcccacgacgccttccgctcctccctc
agctctgcccaggctgacttcaaccagctggccgagctggaccgccagatcaagagcttc
cgcgtagcctccaacccctacacctggtttaccatggaggccctggaggagacctggagg
aacctacagaaaatcatcaaggagagggagctggagctgcagaaggaacagcggcggcag
gaggagaacgacaagctgcgccaggagtttgcccagcacgccaacgccttccaccagtgg
atccaagagaccaggacatacctcctcgatgggtcctgtatggtggaagagtcggggacc
ctcgaatcccagcttgaagctaccaaacgcaagcaccaggaaatccgagccatgagaagt
cagctcaaaaagatcgaggacctgggggccgccatggaggaggccctcatcctggacaac
aagtacacggagcacagcaccgtgggcctcgcccagcagtgggaccagctggaccagctg
ggcatgcgcatgcagcacaacctggagcagcagatccaggccaggaacacaacaggtgtg
actgaggaggccctcaaagaattcagcatgatgtttaaacactttgacaaggacaagtct
ggcaggctgaaccatcaggagttcaaatcttgcctgcgctccctgggctatgacctgccc
atggtggaggaaggggaacctgaccctgagttcgaggcaatcctggacacggtggatccg
aacagagatggccatgtctccttgcaagaatacatggctttcatgatcagccgcgaaact
gagaacgtcaagtccagcgaggagattgagagcgccttccgggccctcagctcagaggga
aagccttacgtgaccaaggaggagctctaccagaacctgacccgggaacaagccgactac
tgcgtctcccacatgaagccctacgtggacggcaagggccgcgagctccccaccgcgttc
gactacgtggagttcacccgctcgcttttcgtgaactga

KEGG   Homo sapiens (human): 6712
Entry
6712              CDS       T01001                                 
Symbol
SPTBN2, GTRAP41, SCA5, SCAR14
Name
(RefSeq) spectrin beta, non-erythrocytic 2
  KO
K23932  spectrin beta, non-erythrocytic 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
hsa04820  Cytoskeleton in muscle cells
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
nt06546  IgSF CAM signaling
  Element
N00960  Mutation-caused aberrant SPTBN2 to mGluR1-TRPC3 signaling pathway
N01933  NrCAM interactions
N01934  L1CAM interactions
N01935  NFASC interactions
N01936  CNTN1 interactions
N01937  CNTN2 interactions
Disease
H00063  Spinocerebellar ataxia (SCA)
H01891  Autosomal recessive spinocerebellar ataxias
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    6712 (SPTBN2)
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6712 (SPTBN2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    6712 (SPTBN2)
   05022 Pathways of neurodegeneration - multiple diseases
    6712 (SPTBN2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    6712 (SPTBN2)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     6712 (SPTBN2)
  Intermediate filaments
   Intermediate filament-binding proteins
    6712 (SPTBN2)
SSDB
Motif
Pfam: Spectrin CH PH_9 PH PH_11
Other DBs
NCBI-GeneID: 6712
NCBI-ProteinID: NP_008877
OMIM: 604985
HGNC: 11276
Ensembl: ENSG00000173898
UniProt: O15020
Structure
LinkDB
Position
11:complement(66682497..66744682)
AA seq 2390 aa
MSSTLSPTDFDSLEIQGQYSDINNRWDLPDSDWDNDSSSARLFERSRIKALADEREAVQK
KTFTKWVNSHLARVTCRVGDLYSDLRDGRNLLRLLEVLSGEILPKPTKGRMRIHCLENVD
KALQFLKEQKVHLENMGSHDIVDGNHRLTLGLVWTIILRFQIQDISVETEDNKEKKSAKD
ALLLWCQMKTAGYPNVNVHNFTTSWRDGLAFNAIVHKHRPDLLDFESLKKCNAHYNLQNA
FNLAEKELGLTKLLDPEDVNVDQPDEKSIITYVATYYHYFSKMKALAVEGKRIGKVLDHA
MEAERLVEKYESLASELLQWIEQTIVTLNDRQLANSLSGVQNQLQSFNSYRTVEKPPKFT
EKGNLEVLLFTIQSKLRANNQKVYTPREGRLISDINKAWERLEKAEHERELALRTELIRQ
EKLEQLAARFDRKAAMRETWLSENQRLVSQDNFGLELAAVEAAVRKHEAIETDIVAYSGR
VQAVDAVAAELAAERYHDIKRIAARQHNVARLWDFLRQMVAARRERLLLNLELQKVFQDL
LYLMDWMEEMKGRLQSQDLGRHLAGVEDLLQLHELVEADIAVQAERVRAVSASALRFCNP
GKEYRPCDPQLVSERVAKLEQSYEALCELAAARRARLEESRRLWRFLWEVGEAEAWVREQ
QHLLASADTGRDLTGALRLLNKHTALRGEMSGRLGPLKLTLEQGQQLVAEGHPGASQASA
RAAELQAQWERLEALAEERAQRLAQAASLYQFQADANDMEAWLVDALRLVSSPELGHDEF
STQALARQHRALEEEIRSHRPTLDALREQAAALPPTLSRTPEVQSRVPTLERHYEELQAR
AGERARALEAALALYTMLSEAGACGLWVEEKEQWLNGLALPERLEDLEVVQQRFETLEPE
MNTLAAQITAVNDIAEQLLKANPPGKDRIVNTQEQLNHRWQQFRRLADGKKAALTSALSI
QNYHLECTETQAWMREKTKVIESTQGLGNDLAGVLALQRKLAGTERDLEAIAARVGELTR
EANALAAGHPAQAVAINARLREVQTGWEDLRATMRRREESLGEARRLQDFLRSLDDFQAW
LGRTQTAVASEEGPATLPEAEALLAQHAALRGEVERAQSEYSRLRALGEEVTRDQADPQC
LFLRQRLEALGTGWEELGRMWESRQGRLAQAHGFQGFLRDARQAEGVLSSQEYVLSHTEM
PGTLQAADAAIKKLEDFMSTMDANGERIHGLLEAGRQLVSEGNIHADKIREKADSIERRH
KKNQDAAQQFLGRLRDNREQQHFLQDCHELKLWIDEKMLTAQDVSYDEARNLHTKWQKHQ
AFMAELAANKDWLDKVDKEGRELTLEKPELKALVSEKLRDLHRRWDELETTTQAKARSLF
DANRAELFAQSCCALESWLESLQAQLHSDDYGKDLTSVNILLKKQQMLEWEMAVREKEVE
AIQAQAKALAQEDQGAGEVERTSRAVEEKFRALCQPMRERCRRLQASREQHQFHRDVEDE
ILWVTERLPMASSMEHGKDLPSVQLLMKKNQTLQKEIQGHEPRIADLRERQRALGAAAAG
PELAELQEMWKRLGHELELRGKRLEDALRAQQFYRDAAEAEAWMGEQELHMMGQEKAKDE
LSAQAEVKKHQVLEQALADYAQTIHQLAASSQDMIDHEHPESTRISIRQAQVDKLYAGLK
ELAGERRERLQEHLRLCQLRRELDDLEQWIQEREVVAASHELGQDYEHVTMLRDKFREFS
RDTSTIGQERVDSANALANGLIAGGHAARATVAEWKDSLNEAWADLLELLDTRGQVLAAA
YELQRFLHGARQALARVQHKQQQLPDGTGRDLNAAEALQRRHCAYEHDIQALSPQVQQVQ
DDGHRLQKAYAGDKAEEIGRHMQAVAEAWAQLQGSSAARRQLLLDTTDKFRFFKAVRELM
LWMDEVNLQMDAQERPRDVSSADLVIKNQQGIKAEIEARADRFSSCIDMGKELLARSHYA
AEEISEKLSQLQARRQETAEKWQEKMDWLQLVLEVLVFGRDAGMAEAWLCSQEPLVRSAE
LGCTVDEVESLIKRHEAFQKSAVAWEERFCALEKLTALEEREKERKRKREEEERRKQPPA
PEPTASVPPGDLVGGQTASDTTWDGTQPRPPPSTQAPSVNGVCTDGEPSQPLLGQQRLEH
SSFPEGPGPGSGDEANGPRGERQTRTRGPAPSAMPQSRSTESAHAATLPPRGPEPSAQEQ
MEGMLCRKQEMEAFGKKAANRSWQNVYCVLRRGSLGFYKDAKAASAGVPYHGEVPVSLAR
AQGSVAFDYRKRKHVFKLGLQDGKEYLFQAKDEAEMSSWLRVVNAAIATASSASGEPEEP
VVPSTTRGMTRAMTMPPVSPVGAEGPVVLRSKDGREREREKRFSFFKKNK
NT seq 7173 nt   +upstreamnt  +downstreamnt
atgagcagcacgctgtcacccacagactttgacagcttggaaatccagggccagtacagt
gacatcaacaaccgctgggaccttcctgactcggactgggacaatgacagcagctcggcc
cgcctctttgagaggtctcgcattaaggctctggcagatgaacgagaagctgtgcagaag
aaaaccttcaccaagtgggtaaactcgcacctggcccgggtcacgtgccgggtgggggac
ctgtacagcgacctccgggacggacgcaacctgctgaggctcctcgaggtgctctcggga
gagatactgccaaagcctacaaagggccgcatgcggatccactgcctggagaacgtggac
aaggcactgcagttcctcaaggagcagaaagtgcacttggaaaacatgggctcccatgac
attgtggacggaaaccaccgactgacccttgggctggtctggaccatcatccttcgattc
cagatccaagacatcagtgtggagacagaagacaacaaggagaagaagtcagccaaggat
gccctgcttctgtggtgccagatgaagactgcaggttatcccaacgtcaatgtacacaac
ttcaccaccagctggagagatggactagctttcaacgccatcgtgcataaacaccggcca
gacctgctggattttgagtctctgaagaagtgtaatgcacactataatctgcagaatgca
ttcaatctggctgaaaaggaactgggacttaccaagctgctggatcccgaagacgtgaat
gtggaccagccagatgagaagtcaatcattacctatgtggctacttactaccattacttc
tccaagatgaaggccctggccgtggaaggcaagagaattggcaaggtgctggaccatgcc
atggaggcagagcgcctggtggagaaatacgagtccctggcctcggagctgctgcagtgg
atcgagcaaacgatcgtgaccctcaatgaccggcagttggccaactcccttagcggggtc
cagaaccagctgcagtccttcaactcctaccgcaccgtggagaagccgcccaagtttacc
gagaaagggaacttggaagtgctgctcttcaccatccagagcaagcttcgggccaacaac
cagaaggtctacacgccccgcgagggccggctcatctcggacatcaacaaggcttgggag
cggctggagaaggcggagcacgagcgtgagctggccctgcgcaccgagctcatccgccag
gagaagctggagcagctggccgcccgcttcgaccgcaaggctgccatgcgggagacctgg
ctcagcgagaaccagcgcctcgtgtcccaggacaactttgggctggagctggcagctgtc
gaggcagcagtacggaagcacgaagccattgagacggacatcgtggcctacagcggccgg
gtgcaggcagtggacgccgtggctgcagagctggccgccgagcgctaccacgacatcaag
cgcatcgccgctcggcagcacaacgtggcacggctctgggacttcttgcggcagatggtg
gccgcccggcgggagcggctcctcctcaacctggagctgcagaaggtgttccaggacctg
ctctacctcatggactggatggaagagatgaagggccggctgcagtctcaggacctgggc
aggcacctagcaggagtggaggacctgctgcagctgcacgagctggtggaggcagacatc
gccgtgcaggccgagagggtgcgggccgtcagcgcctctgccctgcgcttctgcaaccca
gggaaagagtatagaccttgcgacccgcagctggtgtcggagcgggtggccaagctagag
cagagctatgaggcactgtgcgagttggcagcggcgcggcgggcccggctggaggaatca
cggcggctctggcgtttcctctgggaggtgggtgaagctgaggcctgggtgcgggagcag
cagcacctcctggcctcagccgacacgggccgagacctgaccggtgccctccgcctgctc
aacaagcacacagccctgcggggcgagatgagcggccggctggggcccctgaagctcacc
ctggagcagggccagcagttggtggccgagggtcaccctggggcaagccaggcctctgcc
cgtgcagctgaactccaagcccagtgggagcggctagaggccctggccgaggagcgtgcc
cagcggctggcccaagccgccagcctctaccagttccaggccgatgcaaacgacatggag
gcctggttggttgacgcactgcgcctggtgtccagccccgagctggggcacgacgagttc
tccacgcaggctctagccaggcagcatcgggccctggaggaggagattcgaagccaccgg
ccaaccctggacgccttgagggaacaggcagcagccctgccccccacactgagccgcacg
cccgaggtgcagagccgggtgcccaccctggagcggcactacgaggagctgcaggcccgg
gcaggcgagcgagcgcgggccttggaggcagccctggcgctctacaccatgctcagcgag
gccggggcctgtggactctgggtggaggagaaggagcagtggctcaacgggctggccctg
cctgaacgcctggaggacctggaggtcgtgcagcagaggttcgagaccctggagcctgaa
atgaacacccttgcagcacaaatcaccgcggtgaatgacattgccgagcagttactgaag
gccaaccccccaggcaaagaccgcattgtcaacacccaggagcagctcaaccacaggtgg
cagcagtttcggcgtctggcagacggcaagaaggcagctctcacctcagccctgagcatc
cagaactaccacttagagtgcacggagacccaggcctggatgagagagaagaccaaagtc
atcgagtccacccagggcctaggcaacgatctggctggggtgctggccctgcagcgcaag
ctggccggcacggagcgggacctggaggccatcgccgcccgggtgggcgaactgactcga
gaggcaaatgccctggctgccggccatcccgctcaggcagtggccatcaacgcccggctg
agagaggtgcagaccggctgggaggacctcagggccaccatgcggcgtcgagaagagtcg
ctgggggaggcgcggcggctgcaggacttcttgcgcagcttggatgacttccaggcctgg
ctaggccgcactcagactgctgtggcctctgaagaagggccggccaccctgcctgaggca
gaggccctcctggcccaacatgcagccctgcggggagaggtggagcgggcccagagcgag
tatagccggctgcgagccctgggcgaggaggtgacccgggaccaggctgacccccagtgc
ctcttcctacgacagcgactggaggccctgggaactggctgggaggagctgggccgaatg
tgggagagccggcaaggtcgcctggcccaggcccacggcttccagggattcctgcgggat
gctcgtcaggctgagggcgtgctcagcagccaggaatatgttctgtctcacacggagatg
ccagggacactccaggctgctgatgctgccattaaaaaactggaggacttcatgagcacc
atggacgccaatggggaacggatccacgggctcctggaggctggccgccagctggtatct
gaaggcaacatccacgccgacaagattcgggaaaaggcagactccattgagaggaggcac
aagaagaatcaagacgcagcgcagcaatttctgggccgtcttcgggacaaccgggagcag
cagcatttcctgcaagattgtcacgagctgaagctctggatcgacgagaagatgctgaca
gcccaggacgtgtcctatgacgaggcccgcaacctgcatactaagtggcagaagcaccag
gcattcatggccgagctggctgccaacaaagactggctggacaaggtggacaaggaaggg
cgagagctcacccttgagaagccagagctgaaagccctggtgtcggagaagctgagagac
ctgcacaggcgctgggacgagctggagaccaccacccaagccaaggcccgcagcctcttt
gatgccaaccgagctgagctgtttgcccagagctgctgtgccctggagagctggctggag
agcctgcaggcccagctgcactcggatgactacggcaaggacctcaccagcgtcaacatc
ctgctcaagaagcagcagatgctggaatgggagatggctgtgagagagaaggaggtggag
gcaatccaggcccaggccaaagcactggcccaggaggaccagggtgcaggggaggtggag
agaacctcgagggccgtggaggagaagttcagggccttgtgccagcccatgcgggaacgc
tgccggcgcctgcaggcttctcgcgagcagcaccagttccaccgcgatgtggaagatgag
attttgtgggtgacagagcggctgcccatggccagctccatggagcatggcaaggacctg
cccagcgtccagcttctcatgaagaaaaaccagaccctgcagaaagagattcagggccat
gagccccggatcgcggacctgagggagcggcagcgtgctctaggtgcagcagcagcaggt
ccagagctggctgagctgcaggaaatgtggaaacgcctgggccacgagctggaacttcga
gggaagcgactggaggatgccctgcgagcccagcagttctaccgcgatgccgccgaggcg
gaggcctggatgggcgagcaggaattacacatgatgggccaggagaaggccaaggatgag
ctgagtgcccaggcagaggtgaagaagcaccaggtgctggagcaagccctggccgactac
gcgcagaccatccaccagctggcggccagcagccaggacatgattgaccacgagcaccca
gagagcactcggatatccatccgccaagcccaggtggacaagctgtatgccggcctgaag
gagctggctggagagcggcgggagcgcctgcaggagcacctccggctgtgccagctccgc
cgcgagctggatgacctggaacagtggatccaggagcgcgaggtggtggcggcctcccac
gagctgggccaggactacgagcatgtgactatgctccgagacaaattccgagagttctcc
cgggacacaagcaccatcggtcaggagcgcgtagatagcgccaatgcgctggccaatggg
ctcattgctgggggccatgctgcacgggccaccgtggccgagtggaaggacagtctcaac
gaggcctgggctgacctgcttgagctgctggacacacggggtcaggtgctggccgcggcg
tacgagctgcagcgcttcctgcacggggcacgccaagccctggcgcgggtgcagcacaag
cagcagcagcttccggacgggactggccgcgacctcaacgctgccgaggccctgcagcgc
cgacactgtgcctacgagcatgacattcaggccctcagcccccaggtccagcaggtgcag
gacgacggccaccggctccagaaggcctacgctggagacaaggctgaggagatcggccgc
cacatgcaggccgtggccgaggcctgggcccagcttcagggaagctctgccgcccgccgg
cagctgctgctggacaccacagacaagttccgcttcttcaaggctgtccgggaactgatg
ctctggatggatgaggtcaacctgcagatggatgcccaggagcgtccccgggatgtgtcc
tccgcggatctagtcatcaagaaccagcaaggcatcaaggcagagatagaggcccgggca
gaccgcttctcctcctgcatcgacatggggaaggagctgctggccaggagccactatgcg
gccgaggagatctcagagaagctgtctcagctgcaggcacggcgccaggagacagctgag
aagtggcaggagaagatggactggcttcagctggttttggaggtgcttgtgtttggaaga
gatgcagggatggcagaggcctggctctgcagccaggagccactggtgcgcagcgctgag
ctgggttgcacggtcgacgaagttgagagcctcatcaagcggcacgaggccttccagaag
tcagcagtggcctgggaggagcgattctgtgcgctggagaagcttactgcgctagaggag
cgggagaaggagcgaaagagaaagagggaggaggaggagcggcggaaacagccgcctgct
cccgaacccacagccagtgtgcctccaggggacctggtgggcggccagacagcttctgac
accacctgggacggaacccagccacggccaccaccatccacacaagcacccagtgttaat
ggagtctgcacagatggagagccctcacagcccctgctgggacaacagagacttgagcac
agcagcttccccgaagggccgggacctggctcaggggacgaagccaatgggccccgggga
gagaggcagacccggactcggggcccggccccatctgcaatgccccagagcaggtctacc
gagtcagcccatgctgccaccctgccgcctcgaggcccagagccatctgcccaggagcag
atggaggggatgctgtgccgcaagcaggagatggaggccttcgggaagaaggctgccaac
aggtcctggcagaacgtgtactgtgtcctgcggcgtgggagcctcggcttttacaaggat
gccaaggcagccagcgcgggagtgccataccacggagaagtgcctgtcagcctggccagg
gcccagggcagcgtcgcctttgattaccgaaagcgcaaacatgtcttcaagctgggctta
caggatggaaaagaatatttattccaggccaaggatgaggcagagatgagctcgtggcta
cgggtggtgaatgcagccattgccacagcgtcttctgcctctggagagcctgaagagccg
gtggtgcccagcaccacccggggcatgacccgggccatgaccatgcccccagtgtcaccc
gtcggggctgaggggcctgttgtgctccgcagcaaagacggcagagaacgagagcgagaa
aaacgcttcagcttctttaagaagaacaagtag

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