TAFAZZIN

Protein identityUniProt · HPA

UniProt accession

Q16635

Gene

TAFAZZIN

Ensembl

ENSG00000102125

Chromosome

X

Canonical length

262 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

262 residues, UniProt reviewed canonical sequence.

>Q16635|TAFAZZIN
     1  MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTKYMN HLTVHNREVL YELIEKRGPA
    61  TPLITVSNHQ SCMDDPHLWG ILKLRHIWNL KLMRWTPAAA DICFTKELHS HFFSLGKCVP
   121  VCRGDGVYQK GMDFILEKLN HGDWVHIFPE GKVNMSSEFL RFKWGIGRLI AECHLNPIIL
   181  PLWHVGMNDV LPNSPPYFPR FGQKITVLIG KPFSALPVLE RLRAENKSAV EMRKALTDFI
   241  QEEFQHLKTQ AEQLHNHLQP GR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TAFAZZIN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

60 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TAFAZZIN.

Disease | AllUniProt

Conditions TAFAZZIN is implicated in, by any mechanism.

• Barth syndrome (BTHS) MIM:302060

Disease | GeneticClinVar

103 pathogenic / likely-pathogenic of 620 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• 3-Methylglutaconic aciduria type 2
• Thyroid cancer, nonmedullary, 1
• TAFAZZIN-related disorder
• Primary dilated cardiomyopathy
• Cardiovascular phenotype

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.49

gnomAD pLI

0.73

DepMap mean gene effect

-0.4

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiolipin acyl-chain remodeling
• cristae formation
• inner mitochondrial membrane organization
• positive regulation of ATP biosynthetic process
• positive regulation of cardiolipin metabolic process

Molecular functions

• 1-acylglycerol-3-phosphate O-acyltransferase activity
• 1-acylglycerophosphocholine O-acyltransferase activity
• O-acyltransferase activity

Cellular components

• mitochondrial inner membrane
• mitochondrial intermembrane space
• mitochondrial membrane
• mitochondrial outer membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Phospholipid/glycerol acyltransferase
• Acyltransferase
• Tafazzin

KeywordsUniProt

• Acyltransferase
• Cardiomyopathy
• Cytoplasm
• Lipid metabolism
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Mitochondrion outer membrane
• Transferase