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HSPBAP1 HSPB1 associated protein 1 [ Homo sapiens (human) ]

Gene ID: 79663, updated on 2-Nov-2024

Summary

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Official Symbol
HSPBAP1provided by HGNC
Official Full Name
HSPB1 associated protein 1provided by HGNC
Primary source
HGNC:HGNC:16389
See related
Ensembl:ENSG00000169087 MIM:608263; AllianceGenome:HGNC:16389
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
PASS1
Summary
This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]
Expression
Ubiquitous expression in testis (RPKM 3.1), spleen (RPKM 2.7) and 25 other tissues See more
Orthologs
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Genomic context

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See HSPBAP1 in Genome Data Viewer
Location:
3q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (122739999..122793831, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (125459253..125513020, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122458846..122512678, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:122387501-122388700 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:122399197-122399969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20385 Neighboring gene poly(ADP-ribose) polymerase family member 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:122419937-122420437 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14645 Neighboring gene solute carrier family 49 member 4 Neighboring gene MPRA-validated peak4798 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20387 Neighboring gene long intergenic non-protein coding RNA 2035

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Androgen receptor-interacting protein HSPBAP1 facilitates growth of prostate cancer cells in androgen-deficient conditions. Saeed K, et al. Int J Cancer, 2015 Jun 1. PMID 25359680
  2. Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain. Jiang M, et al. Cytogenet Cell Genet, 2001. PMID 11978969
  3. HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy. Xi ZQ, et al. Synapse, 2007 Sep. PMID 17568411
  4. PELI1 Selectively Targets Kinase-Active RIP3 for Ubiquitylation-Dependent Proteasomal Degradation. Choi SW, et al. Mol Cell, 2018 Jun 7. PMID 29883609
  5. Skp2-Mediated Stabilization of MTH1 Promotes Survival of Melanoma Cells upon Oxidative Stress. Wang JY, et al. Cancer Res, 2017 Nov 15. PMID 28947420

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data suggest a novel role and a possible link for HSPBAP1 in promoting prostate cancer cell survival in androgen-deficient conditions by maintaining a basal level of androgen receptor-mediated transcription.
    Title: Androgen receptor-interacting protein HSPBAP1 facilitates growth of prostate cancer cells in androgen-deficient conditions.
  2. HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy.
    Title: HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy.
  3. Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain
    Title: Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22623, FLJ39386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-oxoglutarate-dependent dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
HSPB1-associated protein 1
Names
27 kDa heat shock protein-associated protein 1
HSPB (heat shock 27kDa) associated protein 1
protein associating with small stress protein PASS1

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_030032.1 RefSeqGene

    Range
    4989..58821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320728.2 → NP_001307657.1  HSPB1-associated protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC048348, AF400663, BC011897, HY020808
    UniProtKB/TrEMBL
    A8K045
    Conserved Domains (1) summary
    cl21464
    Location:37 → 246
    cupin_like; Conserved domain found in cupin and related proteins

  2. NM_024610.6 → NP_078886.2  HSPB1-associated protein 1 isoform 1

    See identical proteins and their annotated locations for NP_078886.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC048348, AK289410, BC011897, BI912690, BU630355
    Consensus CDS
    CCDS3017.1
    UniProtKB/Swiss-Prot
    Q6P476, Q8N8J4, Q8NHH6, Q8WWF0, Q96EW2
    UniProtKB/TrEMBL
    A8K045
    Related
    ENSP00000302562.2, ENST00000306103.3
    Conserved Domains (1) summary
    pfam13621
    Location:37 → 272
    Cupin_8; Cupin-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    122739999..122793831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448919.1 → XP_047304875.1  HSPB1-associated protein 1 isoform X3

  2. XM_017007179.2 → XP_016862668.1  HSPB1-associated protein 1 isoform X2

    UniProtKB/TrEMBL
    A8K045
    Conserved Domains (1) summary
    pfam13621
    Location:29 → 210
    Cupin_8; Cupin-like domain

  3. XM_047448918.1 → XP_047304874.1  HSPB1-associated protein 1 isoform X1

  4. XM_005247762.3 → XP_005247819.1  HSPB1-associated protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q96EW2
    Related
    ENST00000465044.5
    Conserved Domains (1) summary
    cl21464
    Location:37 → 249
    cupin_like; Conserved domain found in cupin and related proteins

  5. XM_047448920.1 → XP_047304876.1  HSPB1-associated protein 1 isoform X5

    Related
    ENST00000467643.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    125459253..125513020 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347861.1 → XP_054203836.1  HSPB1-associated protein 1 isoform X3

  2. XM_054347860.1 → XP_054203835.1  HSPB1-associated protein 1 isoform X2

  3. XM_054347859.1 → XP_054203834.1  HSPB1-associated protein 1 isoform X1

  4. XM_054347862.1 → XP_054203837.1  HSPB1-associated protein 1 isoform X4

  5. XM_054347863.1 → XP_054203838.1  HSPB1-associated protein 1 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96EW2.1 GenPept UniProtKB/Swiss-Prot:Q96EW2

Gene LinkOut

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