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SPTA1 spectrin alpha, erythrocytic 1 [ Homo sapiens (human) ]

Gene ID: 6708, updated on 26-May-2016
Official Symbol
SPTA1provided by HGNC
Official Full Name
spectrin alpha, erythrocytic 1provided by HGNC
Primary source
HGNC:HGNC:11272
See related
Ensembl:ENSG00000163554 HPRD:01685; MIM:182860; Vega:OTTHUMG00000019636
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EL2; HPP; HS3; SPH3; SPTA
Summary
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]
Orthologs
Location:
1q21
Exon count:
53
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (158610498..158686716, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (158580496..158656506, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 10 subfamily X member 1 (gene/pseudogene) Neighboring gene olfactory receptor family 10 subfamily Z member 1 Neighboring gene olfactory receptor family 6 subfamily K member 1 pseudogene Neighboring gene olfactory receptor family 6 subfamily K member 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Elliptocytosis 2
MedGen: C1851741 OMIM: 130600 GeneReviews: Not available
Compare labs
Hereditary pyropoikilocytosis
MedGen: C0520739 OMIM: 266140 GeneReviews: Not available
Compare labs
Spherocytosis type 3
MedGen: C2678338 OMIM: 270970 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed
gag-pol HIV-1 protease cleaves alpha-spectrin in vitro at amino acid positions 1352, 1376, and 1697 PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ras guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
actin filament binding TAS
Traceable Author Statement
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
actin filament capping IEA
Inferred from Electronic Annotation
more info
 
actin filament organization TAS
Traceable Author Statement
more info
PubMed 
axon guidance TAS
Traceable Author Statement
more info
 
hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
lymphocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
plasma membrane organization IEA
Inferred from Electronic Annotation
more info
 
porphyrin-containing compound biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cuticular plate IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intrinsic component of the cytoplasmic side of the plasma membrane TAS
Traceable Author Statement
more info
PubMed 
spectrin IEA
Inferred from Electronic Annotation
more info
 
spectrin-associated cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
spectrin alpha chain, erythrocytic 1
Names
alpha-I spectrin
elliptocytosis 2
erythroid alpha-spectrin
spectrin alpha chain, erythrocyte
spectrin, alpha, erythrocytic 1 (elliptocytosis 2)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011474.1 RefSeqGene

    Range
    5001..81011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003126.2NP_003117.2  spectrin alpha chain, erythrocytic 1

    See identical proteins and their annotated locations for NP_003117.2

    Status: REVIEWED

    Source sequence(s)
    AL353894, BU665064, CD616351, M61877
    Consensus CDS
    CCDS41423.1
    UniProtKB/Swiss-Prot
    P02549
    Related
    ENSP00000357129, OTTHUMP00000021115, ENST00000368147, OTTHUMT00000051851
    Conserved Domains (4) summary
    cd00176
    Location:16081819
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam08726
    Location:23502418
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily
    cl08302
    Location:22752343
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    158610498..158686716 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509916.1XP_011508218.1  

    See identical proteins and their annotated locations for XP_011508218.1

    UniProtKB/Swiss-Prot
    P02549
    Conserved Domains (4) summary
    cd00176
    Location:16081819
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam08726
    Location:23502418
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily
    cl08302
    Location:22752343
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  2. XM_011509917.1XP_011508219.1  

    Conserved Domains (4) summary
    cd00176
    Location:16081819
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam08726
    Location:23442412
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily
    cl08302
    Location:22692337
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  3. XM_011509918.1XP_011508220.1  

    Conserved Domains (4) summary
    smart00150
    Location:902958
    SPEC; Spectrin repeats
    cd00176
    Location:16081819
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:10821179
    Spectrin; Spectrin repeat
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily
  4. XM_011509919.1XP_011508221.1  

    Conserved Domains (3) summary
    cd00176
    Location:266476
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:16081665
    Spectrin; Spectrin repeat
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily

RNA

  1. XR_921911.1 RNA Sequence

  2. XR_921912.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    159976850..160052530 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)