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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heat shock protein B7 (HSPB7) inhibits lung adenocarcinoma progression by inhibiting glycolysis.
Title: Heat shock protein B7 (HSPB7) inhibits lung adenocarcinoma progression by inhibiting glycolysis.
HSPB7 oppositely regulates human mesenchymal stromal cell-derived osteogenesis and adipogenesis.
Title: HSPB7 oppositely regulates human mesenchymal stromal cell-derived osteogenesis and adipogenesis.
Is the small heat shock protein HSPB7 (cvHsp) a genuine actin-binding protein?
Title: Is the small heat shock protein HSPB7 (cvHsp) a genuine actin-binding protein?
HSPB7 regulates osteogenic differentiation of human adipose derived stem cells via ERK signaling pathway.
Title: HSPB7 regulates osteogenic differentiation of human adipose derived stem cells via ERK signaling pathway.
Cardio-Vascular Heat Shock Protein (cvHsp, HspB7), an Unusual Representative of Small Heat Shock Protein Family.
Title: Cardio-Vascular Heat Shock Protein (cvHsp, HspB7), an Unusual Representative of Small Heat Shock Protein Family.
HSPB7 Gene Polymorphism Associated with Anthropometric Parameters of Obesity and Fat Intake in a Central European Population.
Title: HSPB7 gene polymorphism associated with anthropometric parameters of obesity and fat intake in a Central European population.
SRARP and HSPB7 are tumor suppressors that are commonly inactivated in malignancies.
Title: SRARP and HSPB7 are epigenetically regulated gene pairs that function as tumor suppressors and predict clinical outcome in malignancies.
Loss of Hspb7 in zebrafish or human cardiomyocytes stimulated autophagic pathways and expression of the sister gene encoding Hspb5. Inhibiting autophagy caused FilaminC aggregation in HSPB7 mutant human cardiomyocytes and developmental cardiomyopathy in hspb7 mutant zebrafish embryos.
Title: Hspb7 is a cardioprotective chaperone facilitating sarcomeric proteostasis.
our findings characterize HSPB7 as an intercalated disc protein and suggest it has an essential role in maintaining intercalated disc integrity and conduction function in the adult heart.
Title: HSPB7 prevents cardiac conduction system defect through maintaining intercalated disc integrity.
Patients with central sleep apnea and congestive heart failure had higher T allele frequencies in the HSPB7 gene.
Title: Association between polymorphisms of the HSPB7 gene and Cheyne-Stokes respiration with central sleep apnea in patients with dilated cardiomyopathy and congestive heart failure.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74273 (e-PCR)
- UniSTS:17417

SHGC-74268 (e-PCR)
- UniSTS:53835

HSPB7_990 (e-PCR)
- UniSTS:277335

SHGC-74270 (e-PCR)
- UniSTS:60578

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

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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

NG_053133.1 RefSeqGene

Range

5754..9768

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001349682.2 → NP_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:148 → 228

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 ...
NM_001349683.2 → NP_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:77 → 157

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 ...
NM_001349685.2 → NP_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:67 → 147

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 ...
NM_001349686.2 → NP_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:73 → 139

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.
NM_001349687.2 → NP_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:73 → 148

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 ...
NM_001349688.2 → NP_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:77 → 152

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 ...
NM_001349689.2 → NP_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:78 → 158

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 ...
NM_014424.5 → NP_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:73 → 153

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 ...