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

Gene ID: 79663, updated on 12-Oct-2019

Summary

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
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

Genomic context

See HSPBAP1 in Genome Data Viewer
Location:
3q21.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (122739997..122793831, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122458844..122512666, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4B pseudogene 8 Neighboring gene poly(ADP-ribose) polymerase family member 14 Neighboring gene solute carrier family 49 member 4 Neighboring gene long intergenic non-protein coding RNA 2035 Neighboring gene semaphorin 5B Neighboring gene uncharacterized LOC112268448

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

  • FLJ22623, FLJ39386

Gene Ontology Provided by GOA

Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001320728.2NP_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/Swiss-Prot
    Q96EW2
    Conserved Domains (1) summary
    cl21464
    Location:37246
    cupin_like; Conserved domain found in cupin and related proteins
  2. NM_024610.6NP_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
    Q96EW2
    UniProtKB/TrEMBL
    A8K045
    Related
    ENSP00000302562.2, ENST00000306103.3
    Conserved Domains (1) summary
    pfam13621
    Location:37272
    Cupin_8; Cupin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    122739997..122793831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007179.1XP_016862668.1  HSPB1-associated protein 1 isoform X3

    Conserved Domains (1) summary
    pfam13621
    Location:29210
    Cupin_8; Cupin-like domain
  2. XM_017007180.2XP_016862669.1  HSPB1-associated protein 1 isoform X5

  3. XM_011513130.2XP_011511432.1  HSPB1-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011511432.1

    Conserved Domains (1) summary
    pfam13621
    Location:1235
    Cupin_8; Cupin-like domain
  4. XM_011513132.2XP_011511434.2  HSPB1-associated protein 1 isoform X2

  5. XM_005247762.2XP_005247819.1  HSPB1-associated protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q96EW2
    Conserved Domains (1) summary
    cl21464
    Location:37249
    cupin_like; Conserved domain found in cupin and related proteins

RNA

  1. XR_001740267.2 RNA Sequence

  2. XR_001740266.1 RNA Sequence

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