Tissue expression of HIBCH - Summary - The Human Protein Atlas

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HIBCH

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TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	HIBCH
Gene description	3-hydroxyisobutyryl-CoA hydrolase
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	8
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

General cytoplasmic expression with a granular pattern.

DATA RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data.
Reliability score	Supported based on 2 antibodies. HPA036540 , HPA036541
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	HIBCH
Synonyms
Description	3-hydroxyisobutyryl-CoA hydrolase (HGNC Symbol)
Entrez gene 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]
Chromosome	2
Cytoband	q32.2
Chromosome location (bp)	190189735 - 190344193
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000198130 (version 83.38)
Entrez gene	26275
UniProt	Q6NVY1 (UniProt - Evidence at protein level)
neXtProt	NX_Q6NVY1
Antibodypedia	HIBCH antibodies

PROTEIN BROWSER

HIBCH-001	HIBCH-002	HIBCH-007	HIBCH-008	HIBCH-010	HIBCH-012	HIBCH-014	HIBCH-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
HIBCH-001 ENSP00000352706 ENST00000359678	Q6NVY1 [Direct mapping] 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Show all	Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003860 [3-hydroxyisobutyryl-CoA hydrolase activity] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006574 [valine catabolic process] GO:0009083 [branched-chain amino acid catabolic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0070062 [extracellular exosome] Show all	386 aa 43.5 kDa	No	0
HIBCH-002 ENSP00000387247 ENST00000409934	B8ZZZ0 [Direct mapping] 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0008152 [metabolic process] Show all	273 aa 30.1 kDa	No	0
HIBCH-007 ENSP00000386274 ENST00000410045	B9A058 [Direct mapping] 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		163 aa 18.6 kDa	No	0
HIBCH-008 ENSP00000387098 ENST00000409820	F8W8A6 [Direct mapping] 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		128 aa 14.6 kDa	No	0
HIBCH-010 ENSP00000376144 ENST00000392332	Q6NVY1 [Direct mapping] 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Show all	Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0003860 [3-hydroxyisobutyryl-CoA hydrolase activity] GO:0005759 [mitochondrial matrix] GO:0006574 [valine catabolic process] GO:0008152 [metabolic process] GO:0009083 [branched-chain amino acid catabolic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0070062 [extracellular exosome] Show all	338 aa 38 kDa	No	0
HIBCH-012 ENSP00000399263 ENST00000416732	H7C1A5 [Direct mapping] 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		119 aa 13.6 kDa	No	0
HIBCH-014 ENSP00000398060 ENST00000399855	H7C126 [Direct mapping] 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		38 aa 4.3 kDa	No	0
HIBCH-201 ENSP00000481055 ENST00000622246	A0A087WXI1 [Direct mapping] 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		380 aa 42.8 kDa	No	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.