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

Gene ID: 51332, updated on 7-Aug-2022

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 several functions, including 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, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See SPTBN5 in Genome Data Viewer
Location:
15q15.1
Exon count:
69
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (41848146..41894053, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (39654101..39700011, complement)
105.20220307 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 RNA, 5S ribosomal pseudogene 393 Neighboring gene microRNA 4310 Neighboring gene uncharacterized LOC105370792 Neighboring gene EH domain containing 4 Neighboring gene Sharpr-MPRA regulatory region 4481 Neighboring gene EHD4 antisense RNA 1

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding NAS
Non-traceable Author Statement
more info
PubMed 
enables actin filament binding IEA
Inferred from Electronic Annotation
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 IPI
Inferred from Physical Interaction
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 protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
enables protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
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 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
 
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 
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)

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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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)