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

    Gene ID: 27129, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:5249
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HSPB7 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16014029..16019594, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15455340..15460905, complement)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16276391-16277178 Neighboring gene uncharacterized LOC124903855 Neighboring gene zinc finger and BTB domain containing 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 254 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:16278891-16280090 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:16287659-16288532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 319 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16302461-16302960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16320391-16321231 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:16330551-16331416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 322 Neighboring gene steroid receptor associated and regulated protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16343340-16344086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16344087-16344831 Neighboring gene CLCNKA recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16352537-16353445 Neighboring gene chloride voltage-gated channel Ka Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16356923-16357422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16358660-16359467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16359468-16360274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16365121-16365621 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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
     
    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
     
    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)

    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_053133.1 RefSeqGene

      Range
      5754..9768
      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
      UniProtKB/TrEMBL
      Q8N241
      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
      UniProtKB/TrEMBL
      B5MCQ3, Q68DG0, Q7Z3C1
      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
      UniProtKB/TrEMBL
      Q7Z3C1
      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
      UniProtKB/TrEMBL
      Q7Z3C1
      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
      UniProtKB/TrEMBL
      D3YTC6, Q7Z3C1
      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
      UniProtKB/TrEMBL
      Q7Z3C1
      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
      UniProtKB/TrEMBL
      Q7Z3C1
      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
      B3KQ37, C9K0Y0, Q9NU17, Q9UBY9
      UniProtKB/TrEMBL
      Q7Z3C1
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      15455340..15460905 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)