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

Gene ID: 6708, updated on 4-Oct-2020

Summary

Official Symbol
SPTA1provided by HGNC
Official Full Name
spectrin alpha, erythrocytic 1provided by HGNC
Primary source
HGNC:HGNC:11272
See related
Ensembl:ENSG00000163554 MIM:182860
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
This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]
Expression
Restricted expression toward bone marrow (RPKM 32.4) See more
Orthologs

Genomic context

See SPTA1 in Genome Data Viewer
Location:
1q23.1
Exon count:
53
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (158610498..158686715, 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 6 subfamily P member 1 Neighboring gene olfactory receptor family 10 subfamily X member 1 Neighboring gene olfactory receptor family 10 subfamily Z member 1 Neighboring gene CRISPRi-validated cis-regulatory element chr1.9295 Neighboring gene CRISPRi-validated cis-regulatory element chr1.9296

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
GeneReviews: Not available
Elliptocytosis 2
MedGen: C1851741 OMIM: 130600 GeneReviews: Not available
Compare labs
Hereditary pyropoikilocytosis
MedGen: C0520739 OMIM: 266140 GeneReviews: Not available
Compare labs
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available
Seventy-five genetic loci influencing the human red blood cell.
GeneReviews: Not available
Spherocytosis type 3
MedGen: C2678338 OMIM: 270970 GeneReviews: Not available
Compare labs

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
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 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 
axon IEA
Inferred from Electronic Annotation
more info
 
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 

General protein information

Preferred Names
spectrin alpha chain, erythrocytic 1
Names
alpha-I spectrin
elliptocytosis 2
erythroid alpha-spectrin
spectrin alpha chain, erythrocyte

NCBI Reference Sequences (RefSeq)

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
    5002..81011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1131

mRNA and Protein(s)

  1. NM_003126.4NP_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
    ENSP00000495214.1, ENST00000643759.2
    Conserved Domains (7) 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
    pfam08726
    Location:23502418
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:22782343
    EF-hand_7; EF-hand domain pair
    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 ...
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    158610498..158686715 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509916.2XP_011508218.1  spectrin alpha chain, erythrocytic 1 isoform X1

    See identical proteins and their annotated locations for XP_011508218.1

    UniProtKB/Swiss-Prot
    P02549
    Conserved Domains (7) 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
    pfam08726
    Location:23502418
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:22782343
    EF-hand_7; EF-hand domain pair
    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 ...
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily
  2. XM_011509917.3XP_011508219.1  spectrin alpha chain, erythrocytic 1 isoform X2

    Conserved Domains (7) 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
    pfam08726
    Location:23442412
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:22722337
    EF-hand_7; EF-hand domain pair
    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 ...
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily
  3. XM_011509918.3XP_011508220.1  spectrin alpha chain, erythrocytic 1 isoform X3

    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:19282033
    Spectrin; Spectrin repeat
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily
  4. XM_011509919.3XP_011508221.1  spectrin alpha chain, erythrocytic 1 isoform X4

    Conserved Domains (4) summary
    smart00150
    Location:902958
    SPEC; Spectrin repeats
    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:10821179
    Spectrin; Spectrin repeat
    cl17036
    Location:9821033
    SH3; Src Homology 3 domain superfamily

RNA

  1. XR_921911.3 RNA Sequence

  2. XR_921912.2 RNA Sequence

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