Spectrin alpha chain, non-erythrocytic 1

UniProt Q13813 Organism Homo sapiens Gene NEAS, SPTA2, SPTAN1

Also known as: NEAS, SPTA2, SPTAN1

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.

Classification

Family (Pfam): PF13499 EF-hand_7, PF08726 EFhand_Ca_insen, PF00018 SH3_1, PF00435 Spectrin
InterPro: Alpha_Spectrin_SH3, EF-hand-dom_pair, EF-hand_Ca_insen, EF_Hand_1_Ca_BS, EF_hand_dom, SH3-like_dom_sf, SH3_domain, Spectrin/alpha-actinin, Spectrin_repeat
Functional cluster: Protein Serine/Threonine Kinases

Experimental structures · PDB · 7

2FOT X-ray 2.45A
3F31 X-ray 2.30A
3FB2 X-ray 2.30A
5FW9 X-ray 1.55A
5FWB X-ray 1.50A
5FWC X-ray 1.40A
6ZEH X-ray 1.30A

A predicted model is available from AlphaFold.

Gene Ontology · 20

Disease associations

developmental and epileptic encephalopathy, 5 MONDO:0013277
neuronopathy, distal hereditary motor, autosomal dominant 11 MONDO:0957875
spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813
developmental delay with or without epilepsy MONDO:0957815

Neighborhood · nearest proteins

Nearest neighbours of Spectrin alpha chain, non-erythrocytic 1: 3 by sequence/function similarity (left); 3 co-cited in the literature (right).

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Spectrin beta chain, non-erythrocytic 5 1 shared papers
Low molecular weight phosphotyrosine protein phosphatase 1 shared papers
Spectrin alpha chain, non-erythrocytic 1 1 shared papers
Low molecular weight phosphotyrosine protein phosphatase 1 shared papers
Battenin 1 shared papers
Short transient receptor potential channel 4 1 shared papers
Emerin 1 shared papers
Actin, cytoplasmic 1 1 shared papers
Sodium/potassium-transporting ATPase subunit alpha-1 1 shared papers
Battenin 1 shared papers
Endoplasmic reticulum chaperone BiP 1 shared papers
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 1 shared papers

Literature · 35 cited papers

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. Genet. Med. · 2023
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Mov. Disord. · 2022
A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family. Brain · 2021
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. Brain · 2019
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain · 2017
Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes. Hum. Mutat. · 2017
N-terminome analysis of the human mitochondrial proteome. Proteomics · 2015
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J. Proteomics · 2014
Toward a comprehensive characterization of a human cancer cell phosphoproteome. J. Proteome Res. · 2013
N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. Proc. Natl. Acad. Sci. U.S.A. · 2012
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. Brain Dev. · 2013
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. Epilepsia · 2012
… and 23 more in the literature graph

A document in the lmmol reference corpus — open public data (UniProt, GO, PDB, the literature graph) rendered as a single cross-linked page. Hover any link to preview its target.