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HS1BP3 HCLS1 binding protein 3 [ Homo sapiens (human) ]

Gene ID: 64342, updated on 21-Dec-2019

Summary

Official Symbol
HS1BP3provided by HGNC
Official Full Name
HCLS1 binding protein 3provided by HGNC
Primary source
HGNC:HGNC:24979
See related
Ensembl:ENSG00000118960 MIM:609359
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
ETM2; HS1-BP3
Summary
The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 5.9), adrenal (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See HS1BP3 in Genome Data Viewer
Location:
2p24.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (20552934..20651661, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20817564..20850867, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985856 Neighboring gene uncharacterized LOC102724948 Neighboring gene NDUFAF2 pseudogene 1 Neighboring gene VISTA enhancer hs2384 Neighboring gene HS1BP3 intronic transcript 1 Neighboring gene ribosomal protein S25 pseudogene 3 Neighboring gene uncharacterized LOC105373466 Neighboring gene growth differentiation factor 7 Neighboring gene lipid droplet associated hydrolase

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14249

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
HCLS1-binding protein 3
Names
HS1-binding protein 3
HSP1BP-3

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.

mRNA and Protein(s)

  1. NM_022460.4NP_071905.3  HCLS1-binding protein 3

    See identical proteins and their annotated locations for NP_071905.3

    Status: REVIEWED

    Source sequence(s)
    AC012065, AK024311, BC027947, BC050636, BX354596, N62141
    Consensus CDS
    CCDS1700.1
    UniProtKB/Swiss-Prot
    Q53T59
    UniProtKB/TrEMBL
    Q9H7U7
    Related
    ENSP00000305193.3, ENST00000304031.8
    Conserved Domains (1) summary
    cd06868
    Location:19138
    PX_HS1BP3; The phosphoinositide binding Phox Homology domain of HS1BP3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    20552934..20651661 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004699.2XP_016860188.1  HCLS1-binding protein 3 isoform X4

  2. XM_017004696.2XP_016860185.1  HCLS1-binding protein 3 isoform X1

  3. XM_017004697.2XP_016860186.1  HCLS1-binding protein 3 isoform X2

  4. XM_017004698.1XP_016860187.1  HCLS1-binding protein 3 isoform X3

  5. XM_017004700.1XP_016860189.1  HCLS1-binding protein 3 isoform X5

  6. XM_017004701.1XP_016860190.1  HCLS1-binding protein 3 isoform X6

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