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 EF-hand_FSTL1 SH3_10 SCO1-SenC Tetrabrachion Spectrin_3
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

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