InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TAZ

Summary

InnateDB Protein

IDBP-477699.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TAZ

Protein Name

tafazzin

Synonyms

BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; Taz1;

Species

Homo sapiens

Ensembl Protein

ENSP00000419854

InnateDB Gene

IDBG-91391 (TAZ)

Protein Structure

UniProt Annotation

Function

Some isoforms may be involved in cardiolipin (CL) metabolism. {ECO:0000269PubMed:12930833, ECO:0000269PubMed:19164547}.

Subcellular Localization

Isoform 1: Membrane; Single-pass membrane protein.Isoform 2: Cytoplasm {ECO:0000305}.Isoform 3: Membrane; Single-pass membrane protein.Isoform 4: Membrane; Single-pass membrane protein.Isoform 5: Membrane; Single-pass membrane protein.Isoform 6: Cytoplasm {ECO:0000305}.Isoform 7: Membrane; Single-pass membrane protein.Isoform 8: Cytoplasm {ECO:0000305}.Isoform 9: Cytoplasm {ECO:0000305}.

Disease Associations

Barth syndrome (BTHS) [MIM:302060]: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non- compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. {ECO:0000269PubMed:11238270, ECO:0000269PubMed:12032589, ECO:0000269PubMed:9382096, ECO:0000269PubMed:9382097}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N- terminus are found in leukocytes and fibroblasts, but not in heart and skeletal muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016746	transferase activity, transferring acyl groups
GO:0047184	1-acylglycerophosphocholine O-acyltransferase activity

Biological Process

GO:0006644	phospholipid metabolic process
GO:0006936	muscle contraction
GO:0007507	heart development
GO:0007519	skeletal muscle tissue development
GO:0008152	metabolic process
GO:0030097	hemopoiesis
GO:0032049	cardiolipin biosynthetic process
GO:0032981	mitochondrial respiratory chain complex I assembly
GO:0035965	cardiolipin acyl-chain remodeling
GO:0042407	cristae formation
GO:0042775	mitochondrial ATP synthesis coupled electron transport
GO:0044281	small molecule metabolic process
GO:0046474	glycerophospholipid biosynthetic process
GO:0048738	cardiac muscle tissue development
GO:0060048	cardiac muscle contraction