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HSPB3 heat shock protein family B (small) member 3 [ Homo sapiens (human) ]

Gene ID: 8988, updated on 4-May-2020

Summary

Official Symbol
HSPB3provided by HGNC
Official Full Name
heat shock protein family B (small) member 3provided by HGNC
Primary source
HGNC:HGNC:5248
See related
Ensembl:ENSG00000169271 MIM:604624
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
HMN2C; DHMN2C; HSPL27
Summary
This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]
Orthologs

Genomic context

See HSPB3 in Genome Data Viewer
Location:
5q11.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (54455699..54456377)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (53751431..53752214)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 36 Neighboring gene long intergenic non-protein coding RNA 1033 Neighboring gene ribosomal protein L37 pseudogene 25 Neighboring gene sorting nexin 18 Neighboring gene uncharacterized LOC105378967 Neighboring gene uncharacterized LOC105378968

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
response to unfolded protein TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
heat shock protein beta-3
Names
HSP 17
heat shock 17 kDa protein
heat shock 27kDa protein 3
protein 3

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_027758.1 RefSeqGene

    Range
    5099..5777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006308.3NP_006299.1  heat shock protein beta-3

    See identical proteins and their annotated locations for NP_006299.1

    Status: REVIEWED

    Source sequence(s)
    BX106905, N74672, U15590
    Consensus CDS
    CCDS3961.1
    UniProtKB/Swiss-Prot
    Q12988
    UniProtKB/TrEMBL
    Q6ICS9
    Related
    ENSP00000303394.1, ENST00000302005.3
    Conserved Domains (1) summary
    cd06477
    Location:63145
    ACD_HspB3_Like; Alpha crystallin domain (ACD) found in mammalian HspB3, also known as heat-shock protein 27-like protein (HSPL27, 17-kDa) and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    54455699..54456377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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