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

    Gene ID: 6708, updated on 8-Jul-2021

    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
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    Genomic context

    See SPTA1 in Genome Data Viewer
    Location:
    1q23.1
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (158610498..158686715, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (158580494..158656505, 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
    enables actin filament binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in actin filament organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymphocyte homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in plasma membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in porphyrin-containing compound biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cuticular plate IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intrinsic component of the cytoplasmic side of the plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of spectrin IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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 109.20210514

    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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