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HIBCH 3-hydroxyisobutyryl-CoA hydrolase [ Homo sapiens (human) ]

Gene ID: 26275, updated on 20-Dec-2019

Summary

Official Symbol
HIBCHprovided by HGNC
Official Full Name
3-hydroxyisobutyryl-CoA hydrolaseprovided by HGNC
Primary source
HGNC:HGNC:4908
See related
Ensembl:ENSG00000198130 MIM:610690
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
HIBYLCOAH
Summary
This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Expression
Broad expression in kidney (RPKM 69.9), adrenal (RPKM 32.9) and 23 other tissues See more
Orthologs

Genomic context

See HIBCH in Genome Data Viewer
Location:
2q32.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (190203920..190319826, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191069355..191184771, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 88 Neighboring gene myostatin Neighboring gene uncharacterized LOC105373794 Neighboring gene Sharpr-MPRA regulatory region 4599 Neighboring gene inositol polyphosphate-1-phosphatase Neighboring gene uncharacterized LOC105373802 Neighboring gene major facilitator superfamily domain containing 6

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-hydroxyisobutyryl-CoA hydrolase activity EXP
Inferred from Experiment
more info
PubMed 
3-hydroxyisobutyryl-CoA hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3-hydroxyisobutyryl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
valine catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
Names
3-hydroxyisobutyryl-Coenzyme A hydrolase
HIB-CoA hydrolase
HIBYL-CoA-H
testicular tissue protein Li 86
NP_055177.2
NP_932164.1
XP_011509255.1
XP_011509256.1

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_017062.1 RefSeqGene

    Range
    5220..121126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014362.4NP_055177.2  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_055177.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC010679, AC092178, AK223023
    Consensus CDS
    CCDS2304.1
    UniProtKB/Swiss-Prot
    Q6NVY1
    UniProtKB/TrEMBL
    A0A140VJL0
    Related
    ENSP00000352706.5, ENST00000359678.10
    Conserved Domains (2) summary
    PRK05617
    Location:34378
    PRK05617; 3-hydroxyisobutyryl-CoA hydrolase; Provisional
    pfam16113
    Location:47375
    ECH_2; Enoyl-CoA hydratase/isomerase
  2. NM_198047.3NP_932164.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_932164.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC010679, AC092178, AK223023, BC005190
    Consensus CDS
    CCDS46475.1
    UniProtKB/Swiss-Prot
    Q6NVY1
    Related
    ENSP00000376144.3, ENST00000392332.7
    Conserved Domains (1) summary
    pfam16113
    Location:47337
    ECH_2; Enoyl-CoA hydratase/isomerase

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
    190203920..190319826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510953.2XP_011509255.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011509255.1

    UniProtKB/Swiss-Prot
    Q6NVY1
    UniProtKB/TrEMBL
    A0A140VJL0
    Conserved Domains (2) summary
    PRK05617
    Location:34378
    PRK05617; 3-hydroxyisobutyryl-CoA hydrolase; Provisional
    pfam16113
    Location:47375
    ECH_2; Enoyl-CoA hydratase/isomerase
  2. XM_011510954.1XP_011509256.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X2

    Conserved Domains (1) summary
    pfam16113
    Location:1209
    ECH_2; Enoyl-CoA hydratase/isomerase

RNA

  1. XR_922903.2 RNA Sequence

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