SPTAN1
entrez
6709
canonical
uniprot
Q13813
canonical
ensembl
ENSG00000197694
resolver
ensp
ENSP00000350882
resolver
ensp
ENSP00000361816
resolver
ensp
ENSP00000361824
resolver
ensp
ENSP00000486308
resolver
ensp
ENSP00000486547
resolver
ensp
ENSP00000487444
resolver
ensp
ENSP00000515764
resolver
ensp
ENSP00000515765
resolver
ensp
ENSP00000515766
resolver
ensp
ENSP00000516412
resolver
ensp
ENSP00000523937
resolver
ensp
ENSP00000523938
resolver
ensp
ENSP00000523939
resolver
ensp
ENSP00000523940
resolver
ensp
ENSP00000523942
resolver
ensp
ENSP00000616167
resolver
enst
ENST00000627441
resolver
enst
ENST00000630804
resolver
enst
ENST00000630866
resolver
enst
ENST00000704202
resolver
enst
ENST00000704203
resolver
enst
ENST00000853883
resolver
genesymbol
SPTAN1
resolver
genesymbol_syn
NEAS
resolver
genesymbol_syn
SPTA2
resolver
hgnc
HGNC:11273
resolver
uniprot
A0A0D9SF54
resolver
uniprot
A0A0D9SFF6
resolver
uniprot
A0A0D9SGF6
resolver
uniprot
A0A384P5S9
resolver
uniprot
A0A994J6W3
resolver
uniprot
Q13186
resolver
uniprot
Q15324
resolver
uniprot
Q16606
resolver
uniprot
Q59EF1
resolver
uniprot
Q5VXV5
resolver
uniprot
Q5VXV6
resolver
uniprot
Q7Z6M5
resolver
uniprot
Q9P0V0
resolver
uniprot_entry
A0A0D9SF54_HUMAN
resolver
uniprot_entry
A0A0D9SFF6_HUMAN
resolver
uniprot_entry
A0A0D9SGF6_HUMAN
resolver
uniprot_entry
A0A384P5S9_HUMAN
resolver
uniprot_entry
A0A994J6W3_HUMAN
resolver
uniprot_entry
SPTN1_HUMAN
resolver
uniprot_sec
Q13186
resolver
uniprot_sec
Q15324
resolver
uniprot_sec
Q16606
resolver
uniprot_sec
Q59EF1
resolver
uniprot_sec
Q5VXV5
resolver
uniprot_sec
Q5VXV6
resolver
uniprot_sec
Q7Z6M5
resolver
uniprot_sec
Q9P0V0
resolver
amino_acid_sequence
MDPSGVKVLETAEDIQERRQQVLDRYHRFKELSTLRRQKLEDSYRFQFFQRDAEELEKWIQEKLQIASDENYKDPTNLQGKLQKHQAFEAEVQANSGAIVKLDETGNLMISEGHFASETIRTRLMELHRQWELLLEKMREKGIKLLQAQKLVQYLRECEDVMDWINDKEAIVTSEELGQDLEHVEVLQKKFEEFQTDMAAHEERVNEVNQFAAKLIQEQHPEEELIKTKQDEVNAAWQRLKGLALQRQGKLFGAAEVQRFNRDVDETISWIKEKEQLMASDDFGRDLASVQALLRKHEGLERDLAALEDKVKALCAEADRLQQSHPLSATQIQVKREELITNWEQIRTLAAERHARLNDSYRLQRFLADFRDLTSWVTEMKALINADELASDVAGAEALLDRHQEHKGEIDAHEDSFKSADESGQALLAAGHYASDEVREKLTVLSEERAALLELWELRRQQYEQCMDLQLFYRDTEQVDNWMSKQEAFLLNEDLGDSLDSVEALLKKHEDFEKSLSAQEEKITALDEFATKLIQNNHYAMEDVATRRDALLSRRNALHERAMRRRAQLADSFHLQQFFRDSDELKSWVNEKMKTATDEAYKDPSNLQGKVQKHQAFEAELSANQSRIDALEKAGQKLIDVNHYAKDEVAARMNEVISLWKKLLEATELKGIKLREANQQQQFNRNVEDIELWLYEVEGHLASDDYGKDLTNVQNLQKKHALLEADVAAHQDRIDGITIQARQFQDAGHFDAENIKKKQEALVARYEALKEPMVARKQKLADSLRLQQLFRDVEDEETWIREKEPIAASTNRGKDLIGVQNLLKKHQALQAEIAGHEPRIKAVTQKGNAMVEEGHFAAEDVKAKLHELNQKWEALKAKASQRRQDLEDSLQAQQYFADANEAESWMREKEPIVGSTDYGKDEDSAEALLKKHEALMSDLSAYGSSIQALREQAQSCRQQVAPTDDETGKELVLALYDYQEKSPREVTMKKGDILTLLNSTNKDWWKVEVNDRQGFVPAAYVKKLDPAQSASRENLLEEQGSIALRQEQIDNQTRITKEAGSVSLRMKQVEELYHSLLELGEKRKGMLEKSCKKFMLFREANELQQWINEKEAALTSEEVGADLEQVEVLQKKFDDFQKDLKANESRLKDINKVAEDLESEGLMAEEVQAVQQQEVYGMMPRDETDSKTASPWKSARLMVHTVATFNSIKELNERWRSLQQLAEERSQLLGSAHEVQRFHRDADETKEWIEEKNQALNTDNYGHDLASVQALQRKHEGFERDLAALGDKVNSLGETAERLIQSHPESAEDLQEKCTELNQAWSSLGKRADQRKAKLGDSHDLQRFLSDFRDLMSWINGIRGLVSSDELAKDVTGAEALLERHQEHRTEIDARAGTFQAFEQFGQQLLAHGHYASPEIKQKLDILDQERADLEKAWVQRRMMLDQCLELQLFHRDCEQAENWMAAREAFLNTEDKGDSLDSVEALIKKHEDFDKAINVQEEKIAALQAFADQLIAAGHYAKGDISSRRNEVLDRWRRLKAQMIEKRSKLGESQTLQQFSRDVDEIEAWISEKLQTASDESYKDPTNIQSKHQKHQAFEAELHANADRIRGVIDMGNSLIERGACAGSEDAVKARLAALADQWQFLVQKSAEKSQKLKEANKQQNFNTGIKDFDFWLSEVEALLASEDYGKDLASVNNLLKKHQLLEADISAHEDRLKDLNSQADSLMTSSAFDTSQVKDKRDTINGRFQKIKSMAASRRAKLNESHRLHQFFRDMDDEESWIKEKKLLVGSEDYGRDLTGVQNLRKKHKRLEAELAAHEPAIQGVLDTGKKLSDDNTIGKEEIQQRLAQFVEHWKELKQLAAARGQRLEESLEYQQFVANVEEEEAWINEKMTLVASEDYGDTLAAIQGLLKKHEAFETDFTVHKDRVNDVCTNGQDLIKKNNHHEENISSKMKGLNGKVSDLEKAAAQRKAKLDENSAFLQFNWKADVVESWIGEKENSLKTDDYGRDLSSVQTLLTKQETFDAGLQAFQQEGIANITALKDQLLAAKHVQSKAIEARHASLMKRWSQLLANSAARKKKLLEAQSHFRKVEDLFLTFAKKASAFNSWFENAEEDLTDPVRCNSLEEIKALREAHDAFRSSLSSAQADFNQLAELDRQIKSFRVASNPYTWFTMEALEETWRNLQKIIKERELELQKEQRRQEENDKLRQEFAQHANAFHQWIQETRTYLLDGSCMVEESGTLESQLEATKRKHQEIRAMRSQLKKIEDLGAAMEEALILDNKYTEHSTVGLAQQWDQLDQLGMRMQHNLEQQIQARNTTGVTEEALKEFSMMFKHFDKDKSGRLNHQEFKSCLRSLGYDLPMVEEGEPDPEFEAILDTVDPNRDGHVSLQEYMAFMISRETENVKSSEEIESAFRALSSEGKPYVTKEELYQNLTREQADYCVSHMKPYVDGKGRELPTAFDYVEFTRSLFVN
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 5 (DEE5) [MIM:613477]: A disorder characterized by seizures associated with hypsarrhythmia, profound intellectual disability with lack of visual attention and speech development, as well as spastic quadriplegia. {ECO:0000269|PubMed:20493457, ECO:0000269|PubMed:22429196, ECO:0000269|PubMed:22656320, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:29050398, ECO:0000269|PubMed:36331550}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental delay with or without epilepsy (DEVEP) [MIM:620540]: An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood, and characterized by impaired intellectual development, speech delay, motor delay, and behavioral abnormalities. About half of patients develop various types of seizures. Some affected individuals have cerebellar atrophy and ataxia. {ECO:0000269|PubMed:29050398, ECO:0000269|PubMed:36331550}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuronopathy, distal hereditary motor, autosomal dominant 11 (HMND11) [MIM:620528]: A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND11 is an autosomal dominant form with incomplete penetrance, characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties. Some affected individuals may have distal upper limb and hand involvement or mild distal sensory abnormalities, but motor symptoms dominate the clinical picture. {ECO:0000269|PubMed:31332438, ECO:0000269|PubMed:33578420}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (SPG91) [MIM:620538]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG91 is an autosomal dominant form characterized by gait abnormalities, sometimes associated with cerebellar ataxia. Additional features may include sensory abnormalities, peripheral neuropathy, optic neuropathy, developmental delay, impaired intellectual development, and seizures. Most patients have symptoms onset in the first decade of life, although age at onset is highly variable and ranges from birth to young adulthood. {ECO:0000269|PubMed:35150594, ECO:0000269|PubMed:36331550}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.
uniprot
proteins
mass_dalton
284539
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro. {ECO:0000250}.
uniprot
proteins
protein_family
Spectrin family
uniprot
proteins
pubmed
10625438
uniprot
proteins
pubmed
11971983
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15328537
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16945920
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18048348
uniprot
proteins
pubmed
18621045
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20493457
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22429196
uniprot
proteins
pubmed
22656320
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
2307671
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
29050398
uniprot
proteins
pubmed
3038643
uniprot
proteins
pubmed
31332438
uniprot
proteins
pubmed
33578420
uniprot
proteins
pubmed
35150594
uniprot
proteins
pubmed
36331550
uniprot
proteins
pubmed
3691949
uniprot
proteins
pubmed
7607240
uniprot
proteins
pubmed
8993318
uniprot
proteins
sequence_length
2472
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells. {ECO:0000250}.
uniprot
proteins