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
hsa04820  Cytoskeleton in muscle cells
Network
nt06541  Cytoskeleton in neurons
  Element
N01848  Membrane-associated periodic skeleton (MPS)
Disease
H00266  Hereditary spastic paraplegia
H00606  Early infantile epileptic encephalopathy
H00856  Distal hereditary motor neuropathies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  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

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