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HSPB7 heat shock protein family B (small) member 7 [ Homo sapiens (human) ]

Gene ID: 27129, updated on 23-Nov-2021

Summary

Official Symbol
HSPB7provided by HGNC
Official Full Name
heat shock protein family B (small) member 7provided by HGNC
Primary source
HGNC:HGNC:5249
See related
Ensembl:ENSG00000173641 MIM:610692
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
cvHSP
Summary
This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]
Expression
Biased expression in heart (RPKM 547.7) and fat (RPKM 156.2) See more
Orthologs
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Genomic context

See HSPB7 in Genome Data Viewer
Location:
1p36.13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (16014029..16019594, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16340524..16346089, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene spen family transcriptional repressor Neighboring gene zinc finger and BTB domain containing 17 Neighboring gene steroid receptor associated and regulated protein Neighboring gene CLCNKA recombination region Neighboring gene chloride voltage-gated channel Ka Neighboring gene family with sequence similarity 131 member C 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32733, DKFZp779D0968

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables filamin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein C-terminus binding TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of heart contraction TAS
Traceable Author Statement
more info
PubMed 
involved_in response to unfolded protein TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in Cajal body IEA
Inferred from Electronic Annotation
more info
 
located_in actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in aggresome IDA
Inferred from Direct Assay
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
heat shock protein beta-7
Names
cardiovascular heat shock protein
heat shock 27kD protein family, member 7 (cardiovascular)
heat shock 27kDa protein family, member 7 (cardiovascular)

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.

Genomic

  1. NG_053133.1 RefSeqGene

    Range
    5007..9769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001349682.2NP_001336611.1  heat shock protein beta-7 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL355994
    Consensus CDS
    CCDS85934.1
    Related
    ENSP00000364870.4, ENST00000375718.4
    Conserved Domains (1) summary
    cd06479
    Location:148228
    ACD_HspB7_like; Alpha crystallin domain (ACD) found in mammalian small heat shock protein (sHsp) HspB7, also known as cardiovascular small heat shock protein (cvHsp), and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect ...
  2. NM_001349683.2NP_001336612.1  heat shock protein beta-7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and contains an alternate internal 4 aa segment compared to isoform 1.
    Source sequence(s)
    AL355994
    Consensus CDS
    CCDS85931.1
    Related
    ENSP00000385472.2, ENST00000406363.2
    Conserved Domains (1) summary
    cd06479
    Location:77157
    ACD_HspB7_like; Alpha crystallin domain (ACD) found in mammalian small heat shock protein (sHsp) HspB7, also known as cardiovascular small heat shock protein (cvHsp), and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect ...
  3. NM_001349685.2NP_001336614.1  heat shock protein beta-7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus and lacks an alternate internal 6 aa segment compared to isoform 1.
    Source sequence(s)
    AL355994
    Conserved Domains (1) summary
    cd06479
    Location:67147
    ACD_HspB7_like; Alpha crystallin domain (ACD) found in mammalian small heat shock protein (sHsp) HspB7, also known as cardiovascular small heat shock protein (cvHsp), and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect ...
  4. NM_001349686.2NP_001336615.1  heat shock protein beta-7 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (5) has a shorter and distinct N-terminus and lacks an alternate internal 14 aa segment compared to isoform 1.
    Source sequence(s)
    AL355994
    Conserved Domains (1) summary
    cl00175
    Location:73139
    alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
  5. NM_001349687.2NP_001336616.1  heat shock protein beta-7 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (6) has a shorter and distinct N-terminus and lacks an alternate internal 5 aa segment compared to isoform 1.
    Source sequence(s)
    AL355994
    Consensus CDS
    CCDS85933.1
    Related
    ENSP00000391578.1, ENST00000411503.5
    Conserved Domains (1) summary
    cd06479
    Location:73148
    ACD_HspB7_like; Alpha crystallin domain (ACD) found in mammalian small heat shock protein (sHsp) HspB7, also known as cardiovascular small heat shock protein (cvHsp), and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect ...
  6. NM_001349688.2NP_001336617.1  heat shock protein beta-7 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence and uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (7) has a shorter and distinct N-terminus, contains an alternate internal 4 aa segment, and lacks an alternate internal 5 aa segment compared to isoform 1.
    Source sequence(s)
    AL355994
    Conserved Domains (1) summary
    cd06479
    Location:77152
    ACD_HspB7_like; Alpha crystallin domain (ACD) found in mammalian small heat shock protein (sHsp) HspB7, also known as cardiovascular small heat shock protein (cvHsp), and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect ...
  7. NM_001349689.2NP_001336618.1  heat shock protein beta-7 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (8) has a shorter and distinct N-terminus and contains an alternate internal 5 aa segment compared to isoform 1.
    Source sequence(s)
    AL355994
    Consensus CDS
    CCDS85932.1
    Related
    ENSP00000419477.1, ENST00000487046.1
    Conserved Domains (1) summary
    cd06479
    Location:78158
    ACD_HspB7_like; Alpha crystallin domain (ACD) found in mammalian small heat shock protein (sHsp) HspB7, also known as cardiovascular small heat shock protein (cvHsp), and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect ...
  8. NM_014424.5NP_055239.1  heat shock protein beta-7 isoform 2

    See identical proteins and their annotated locations for NP_055239.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AJ243191, AL355994, BC006319, CR749298
    Consensus CDS
    CCDS30611.1
    UniProtKB/Swiss-Prot
    Q9UBY9
    Related
    ENSP00000310111.9, ENST00000311890.14
    Conserved Domains (1) summary
    cd06479
    Location:73153
    ACD_HspB7_like; Alpha crystallin domain (ACD) found in mammalian small heat shock protein (sHsp) HspB7, also known as cardiovascular small heat shock protein (cvHsp), and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    16014029..16019594 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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