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

    Gene ID: 79663, updated on 3-Apr-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
    mouse all
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    Genomic context

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    Location:
    3q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (122739999..122793831, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (125459253..125513020, complement)
    105.20220307 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

    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. HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy. Xi ZQ, et al. Synapse, 2007 Sep. PMID 17568411
    3. Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain. Jiang M, et al. Cytogenet Cell Genet, 2001. PMID 11978969
    4. PELI1 Selectively Targets Kinase-Active RIP3 for Ubiquitylation-Dependent Proteasomal Degradation. Choi SW, et al. Mol Cell, 2018 Jun 7. PMID 29883609
    5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

    See all (16) 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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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