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    SPTBN5 spectrin beta, non-erythrocytic 5 [ Homo sapiens (human) ]

    Gene ID: 51332, updated on 27-Nov-2024

    Summary

    Official Symbol
    SPTBN5provided by HGNC
    Official Full Name
    spectrin beta, non-erythrocytic 5provided by HGNC
    Primary source
    HGNC:HGNC:15680
    See related
    Ensembl:ENSG00000137877 MIM:605916; AllianceGenome:HGNC:15680
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BSPECV; HUSPECV; HUBSPECV
    Summary
    Enables cytoskeletal protein binding activity; dynein intermediate chain binding activity; and identical protein binding activity. Acts upstream of or within Golgi organization and lysosomal transport. Located in cytoplasm; photoreceptor connecting cilium; and photoreceptor disc membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SPTBN5 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    69
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (41848146..41894053, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (39654101..39700011, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (42140344..42186251, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene JMJD7-PLA2G4B readthrough Neighboring gene Sharpr-MPRA regulatory region 5929 Neighboring gene jumonji domain containing 7 Neighboring gene phospholipase A2 group IVB Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42144871-42145480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42145481-42146091 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42147073-42147589 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42147590-42148105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42148623-42149137 Neighboring gene RNA, 5S ribosomal pseudogene 393 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:42161952-42162212 Neighboring gene microRNA 4310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42170147-42170648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42182967-42183842 Neighboring gene uncharacterized LOC105370792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9287 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42195822-42196326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42196327-42196830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9288 Neighboring gene EH domain containing 4 Neighboring gene Sharpr-MPRA regulatory region 4481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42211607-42212106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42218089-42218606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42221112-42221615 Neighboring gene EHD4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42234574-42235431 Neighboring gene uncharacterized LOC124903477

    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?

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynactin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dynein intermediate chain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables kinesin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables myosin tail binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables opsin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables spectrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within lysosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical cortex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of microtubule associated complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor disc membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of spectrin NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    spectrin beta chain, non-erythrocytic 5
    Names
    beta V spectrin
    spectrin beta chain, brain 4
    spectrin, non-erythroid beta chain 4

    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.

    mRNA and Protein(s)

    1. NM_016642.4NP_057726.4  spectrin beta chain, non-erythrocytic 5

      See identical proteins and their annotated locations for NP_057726.4

      Status: VALIDATED

      Source sequence(s)
      AA599654, AC020659, AF233523
      Consensus CDS
      CCDS61599.1
      UniProtKB/Swiss-Prot
      Q9NRC6
      Related
      ENSP00000317790.6, ENST00000320955.8
      Conserved Domains (7) summary
      smart00150
      Location:34233482
      SPEC; Spectrin repeats
      cd00014
      Location:178280
      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:15211727
      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; ...
      pfam00169
      Location:35343636
      PH; PH domain
      pfam00307
      Location:56152
      CH; Calponin homology (CH) domain
      cl02488
      Location:311532
      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; ...
      cl17171
      Location:35363636
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      41848146..41894053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022299.2XP_016877788.1  spectrin beta chain, non-erythrocytic 5 isoform X1

    2. XM_017022302.2XP_016877791.1  spectrin beta chain, non-erythrocytic 5 isoform X2

    RNA

    1. XR_001751302.2 RNA Sequence

    2. XR_001751303.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      39654101..39700011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378164.1XP_054234139.1  spectrin beta chain, non-erythrocytic 5 isoform X1

    2. XM_054378165.1XP_054234140.1  spectrin beta chain, non-erythrocytic 5 isoform X2

    RNA

    1. XR_008488958.1 RNA Sequence

    2. XR_008488959.1 RNA Sequence