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    SPTB spectrin beta, erythrocytic [ Homo sapiens (human) ]

    Gene ID: 6710, updated on 19-Jul-2021

    Summary

    Official Symbol
    SPTBprovided by HGNC
    Official Full Name
    spectrin beta, erythrocyticprovided by HGNC
    Primary source
    HGNC:HGNC:11274
    See related
    Ensembl:ENSG00000070182 MIM:182870
    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
    EL3; HS2; SPH2; HSPTB1
    Summary
    This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
    Expression
    Biased expression in bone marrow (RPKM 15.7), heart (RPKM 8.2) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SPTB in Genome Data Viewer
    Location:
    14q23.3
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (64744106..64879907, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65213001..65346625, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 36 Neighboring gene nucleoporin 50 pseudogene 1 Neighboring gene pleckstrin homology and RhoGEF domain containing G3 Neighboring gene microRNA 7855 Neighboring gene uncharacterized LOC105370534 Neighboring gene ribonuclease P RNA component H1, 2 pseudogene

    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
    Elliptocytosis 3
    MedGen: C1866810 OMIM: 617948 GeneReviews: Not available
    Compare labs
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    GeneReviews: Not available
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available
    Spherocytosis type 2
    MedGen: C2674219 OMIM: 616649 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

    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 binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ankyrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    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 protein-containing complex IDA
    Inferred from Direct Assay
    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 beta chain, erythrocytic
    Names
    Sp beta
    beta-I spectrin
    membrane cytoskeletal protein
    spectrin beta Tandil
    spectrin beta 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_016202.2 RefSeqGene

      Range
      4986..138610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1130

    mRNA and Protein(s)

    1. NM_001024858.4NP_001020029.1  spectrin beta chain, erythrocytic isoform a

      See identical proteins and their annotated locations for NP_001020029.1

      Status: REVIEWED

      Source sequence(s)
      AB209415, AK094815, AL121774, BC010434, BX248270, CN370674, M37884
      UniProtKB/Swiss-Prot
      P11277
      Related
      ENSP00000374372.3, ENST00000389722.7
      Conserved Domains (5) summary
      smart00150
      Location:13851475
      SPEC; Spectrin repeats
      COG5069
      Location:48438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530742
      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; ...
      cd10571
      Location:21812286
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:422525
      Spectrin; Spectrin repeat
    2. NM_001355436.2NP_001342365.1  spectrin beta chain, erythrocytic isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL121774, AL135745
      Consensus CDS
      CCDS32099.1
      Related
      ENSP00000495909.1, ENST00000644917.1
      Conserved Domains (5) summary
      smart00150
      Location:13851475
      SPEC; Spectrin repeats
      COG5069
      Location:48438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530742
      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; ...
      cd10571
      Location:21812286
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:422525
      Spectrin; Spectrin repeat
    3. NM_001355437.2NP_001342366.1  spectrin beta chain, erythrocytic isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a. This variant is also referred to as muscle beta spectrin.
      Source sequence(s)
      AL121774, AL135745
      Consensus CDS
      CCDS32100.1
      Related
      ENSP00000374370.4, ENST00000389720.4
      Conserved Domains (4) summary
      smart00150
      Location:13851475
      SPEC; Spectrin repeats
      COG5069
      Location:48438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530742
      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:422525
      Spectrin; Spectrin repeat

    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_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      64744106..64879907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021612.2XP_016877101.1  spectrin beta chain, erythrocytic isoform X1

      UniProtKB/Swiss-Prot
      P11277
      Conserved Domains (5) summary
      smart00150
      Location:13851475
      SPEC; Spectrin repeats
      COG5069
      Location:48438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530742
      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; ...
      cd10571
      Location:21812286
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:422525
      Spectrin; Spectrin repeat
    2. XM_024449699.1XP_024305467.1  spectrin beta chain, erythrocytic isoform X1

      Conserved Domains (5) summary
      smart00150
      Location:13851475
      SPEC; Spectrin repeats
      COG5069
      Location:48438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530742
      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; ...
      cd10571
      Location:21812286
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:422525
      Spectrin; Spectrin repeat
    3. XM_011537105.3XP_011535407.1  spectrin beta chain, erythrocytic isoform X2

      Conserved Domains (4) summary
      smart00033
      Location:177273
      CH; Calponin homology domain
      cd00014
      Location:55158
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:530742
      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:422525
      Spectrin; Spectrin repeat

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_000347.5: Suppressed sequence

      Description
      NM_000347.5: This RefSeq was removed because currently there is insufficient support for the transcript.
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