UniProtKB - Q16635 (TAZ_HUMAN)
Protein
Tafazzin
Gene
TAZ
Organism
Homo sapiens (Human)
Status
Functioni
Some isoforms may be involved in cardiolipin (CL) metabolism.2 Publications
GO - Molecular functioni
- 1-acylglycerol-3-phosphate O-acyltransferase activity Source: Reactome
- 1-acylglycerophosphocholine O-acyltransferase activity Source: BHF-UCL
- O-acyltransferase activity Source: GO_Central
GO - Biological processi
- cardiac muscle contraction Source: BHF-UCL
- cardiac muscle tissue development Source: HGNC-UCL
- cardiolipin acyl-chain remodeling Source: GO_Central
- cardiolipin biosynthetic process Source: UniProtKB
- cardiolipin metabolic process Source: UniProtKB
- cristae formation Source: HGNC-UCL
- heart development Source: HGNC-UCL
- hemopoiesis Source: HGNC-UCL
- inner mitochondrial membrane organization Source: GO_Central
- mitochondrial ATP synthesis coupled electron transport Source: BHF-UCL
- mitochondrial respiratory chain complex I assembly Source: HGNC-UCL
- muscle contraction Source: HGNC-UCL
- skeletal muscle tissue development Source: HGNC-UCL
Enzyme and pathway databases
PathwayCommonsi | Q16635 |
Reactomei | R-HSA-1268020, Mitochondrial protein import R-HSA-1482798, Acyl chain remodeling of CL |
Names & Taxonomyi
Protein namesi | Recommended name: TafazzinAlternative name(s): Protein G4.5 |
Gene namesi | Name:TAZ Synonyms:EFE2, G4.5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11577, TAZ |
MIMi | 300394, gene |
neXtProti | NX_Q16635 |
VEuPathDBi | HostDB:ENSG00000102125.15 |
Subcellular locationi
Other locations
Other locations
- Cytoplasm Curated
Other locations
Other locations
Other locations
Other locations
- Cytoplasm Curated
Other locations
Other locations
- Cytoplasm Curated
Other locations
- Cytoplasm Curated
Mitochondrion
- mitochondrial inner membrane Source: Reactome
- mitochondrial membrane Source: GO_Central
- mitochondrion Source: BHF-UCL
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 1 – 30 | Helical; Signal-anchorSequence analysisAdd BLAST | 30 |
Keywords - Cellular componenti
Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Barth syndrome (BTHS)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014110 | 94 | R → S in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894942EnsemblClinVar. | 1 | |
Natural variantiVAR_014111 | 118 | C → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894937EnsemblClinVar. | 1 | |
Natural variantiVAR_014112 | 197 | G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs132630277EnsemblClinVar. | 1 | |
Natural variantiVAR_068434 | 240 | G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs387907218EnsemblClinVar. | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease variantOrganism-specific databases
DisGeNETi | 6901 |
GeneReviewsi | TAZ |
MalaCardsi | TAZ |
MIMi | 302060, phenotype |
OpenTargetsi | ENSG00000102125 |
Orphaneti | 111, Barth syndrome 154, Familial isolated dilated cardiomyopathy |
PharmGKBi | PA36341 |
Miscellaneous databases
Pharosi | Q16635, Tbio |
Genetic variation databases
BioMutai | TAZ |
DMDMi | 2498992 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000220928 | 1 – 292 | TafazzinAdd BLAST | 292 |
Proteomic databases
jPOSTi | Q16635 |
MassIVEi | Q16635 |
MaxQBi | Q16635 |
PaxDbi | Q16635 |
PeptideAtlasi | Q16635 |
PRIDEi | Q16635 |
ProteomicsDBi | 60983 [Q16635-1] 60984 [Q16635-2] 60985 [Q16635-3] 60986 [Q16635-4] 60987 [Q16635-5] 60988 [Q16635-6] 60989 [Q16635-7] 60990 [Q16635-8] 60991 [Q16635-9] |
PTM databases
iPTMneti | Q16635 |
PhosphoSitePlusi | Q16635 |
Expressioni
Tissue specificityi
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.
Gene expression databases
Bgeei | ENSG00000102125, Expressed in small intestine Peyer's patch and 191 other tissues |
ExpressionAtlasi | Q16635, baseline and differential |
Genevisiblei | Q16635, HS |
Organism-specific databases
HPAi | ENSG00000102125, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 112764, 138 interactors |
IntActi | Q16635, 69 interactors |
STRINGi | 9606.ENSP00000469981 |
Miscellaneous databases
RNActi | Q16635, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 124 – 194 | HydrophilicAdd BLAST | 71 |
Domaini
The hydrophilic domain may serve as an exposed loop interacting with other proteins.
Sequence similaritiesi
Belongs to the taffazin family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2847, Eukaryota |
GeneTreei | ENSGT00390000018621 |
InParanoidi | Q16635 |
OMAi | VYNKHII |
OrthoDBi | 215180at2759 |
PhylomeDBi | Q16635 |
TreeFami | TF313862 |
Family and domain databases
InterProi | View protein in InterPro IPR002123, Plipid/glycerol_acylTrfase IPR000872, Tafazzin |
PANTHERi | PTHR12497, PTHR12497, 1 hit |
Pfami | View protein in Pfam PF01553, Acyltransferase, 1 hit |
PRINTSi | PR00979, TAFAZZIN |
SMARTi | View protein in SMART SM00563, PlsC, 1 hit |
s (9+)i Sequence
Sequence statusi: Complete.
This entry describes 9 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 9 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q16635-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTKYMN HLTVHNREVL
60 70 80 90 100
YELIEKRGPA TPLITVSNHQ SCMDDPHLWG ILKLRHIWNL KLMRWTPAAA
110 120 130 140 150
DICFTKELHS HFFSLGKCVP VCRGAEFFQA ENEGKGVLDT GRHMPGAGKR
160 170 180 190 200
REKGDGVYQK GMDFILEKLN HGDWVHIFPE GKVNMSSEFL RFKWGIGRLI
210 220 230 240 250
AECHLNPIIL PLWHVGMNDV LPNSPPYFPR FGQKITVLIG KPFSALPVLE
260 270 280 290
RLRAENKSAV EMRKALTDFI QEEFQHLKTQ AEQLHNHLQP GR
Computationally mapped potential isoform sequencesi
There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF6Y2X3 | F6Y2X3_HUMAN | Tafazzin family protein | TAZ | 262 | Annotation score: | ||
A6XNE1 | A6XNE1_HUMAN | Tafazzin family protein | TAZ | 296 | Annotation score: | ||
A0A494C004 | A0A494C004_HUMAN | Tafazzin family protein | TAZ | 311 | Annotation score: | ||
C9J699 | C9J699_HUMAN | Tafazzin family protein | TAZ | 184 | Annotation score: | ||
A0A087WWD5 | A0A087WWD5_HUMAN | Tafazzin family protein | TAZ | 95 | Annotation score: | ||
A0A494C0C5 | A0A494C0C5_HUMAN | Tafazzin family protein | TAZ | 223 | Annotation score: | ||
A0A499FJ53 | A0A499FJ53_HUMAN | Tafazzin family protein | TAZ | 280 | Annotation score: | ||
A0A494C0D2 | A0A494C0D2_HUMAN | Tafazzin family protein | TAZ | 163 | Annotation score: | ||
A0A494C0V5 | A0A494C0V5_HUMAN | Tafazzin family protein | TAZ | 186 | Annotation score: | ||
A0A494C141 | A0A494C141_HUMAN | Tafazzin family protein | TAZ | 265 | Annotation score: | ||
There are more potential isoformsShow all |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014110 | 94 | R → S in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894942EnsemblClinVar. | 1 | |
Natural variantiVAR_014111 | 118 | C → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894937EnsemblClinVar. | 1 | |
Natural variantiVAR_014112 | 197 | G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs132630277EnsemblClinVar. | 1 | |
Natural variantiVAR_068434 | 240 | G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs387907218EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011609 | 1 – 24 | Missing in isoform 2, isoform 6, isoform 8 and isoform 9. CuratedAdd BLAST | 24 | |
Alternative sequenceiVSP_004451 | 124 – 153 | Missing in isoform 3, isoform 7, isoform 8 and isoform 9. CuratedAdd BLAST | 30 | |
Alternative sequenceiVSP_004452 | 154 – 180 | Missing in isoform 4. CuratedAdd BLAST | 27 | |
Alternative sequenceiVSP_004453 | 181 – 194 | Missing in isoform 5, isoform 6, isoform 7 and isoform 9. CuratedAdd BLAST | 14 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000601016; ENSP00000469981; ENSG00000102125 [Q16635-1] ENST00000612012; ENSP00000482070; ENSG00000102125 [Q16635-5] ENST00000612460; ENSP00000481037; ENSG00000102125 [Q16635-3] ENST00000613002; ENSP00000478154; ENSG00000102125 [Q16635-7] |
GeneIDi | 6901 |
KEGGi | hsa:6901 |
UCSCi | uc033fbm.2, human [Q16635-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
TAZbase TAZ mutation db |
Sequence databases
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 112764, 138 interactors |
IntActi | Q16635, 69 interactors |
STRINGi | 9606.ENSP00000469981 |
PTM databases
iPTMneti | Q16635 |
PhosphoSitePlusi | Q16635 |
Genetic variation databases
BioMutai | TAZ |
DMDMi | 2498992 |
Proteomic databases
jPOSTi | Q16635 |
MassIVEi | Q16635 |
MaxQBi | Q16635 |
PaxDbi | Q16635 |
PeptideAtlasi | Q16635 |
PRIDEi | Q16635 |
ProteomicsDBi | 60983 [Q16635-1] 60984 [Q16635-2] 60985 [Q16635-3] 60986 [Q16635-4] 60987 [Q16635-5] 60988 [Q16635-6] 60989 [Q16635-7] 60990 [Q16635-8] 60991 [Q16635-9] |
Protocols and materials databases
ABCDi | Q16635, 1 sequenced antibody |
Antibodypediai | 31212, 430 antibodies |
DNASUi | 6901 |
Genome annotation databases
Ensembli | ENST00000601016; ENSP00000469981; ENSG00000102125 [Q16635-1] ENST00000612012; ENSP00000482070; ENSG00000102125 [Q16635-5] ENST00000612460; ENSP00000481037; ENSG00000102125 [Q16635-3] ENST00000613002; ENSP00000478154; ENSG00000102125 [Q16635-7] |
GeneIDi | 6901 |
KEGGi | hsa:6901 |
UCSCi | uc033fbm.2, human [Q16635-1] |
Organism-specific databases
CTDi | 6901 |
DisGeNETi | 6901 |
GeneCardsi | TAZ |
GeneReviewsi | TAZ |
HGNCi | HGNC:11577, TAZ |
HPAi | ENSG00000102125, Low tissue specificity |
MalaCardsi | TAZ |
MIMi | 300394, gene 302060, phenotype |
neXtProti | NX_Q16635 |
OpenTargetsi | ENSG00000102125 |
Orphaneti | 111, Barth syndrome 154, Familial isolated dilated cardiomyopathy |
PharmGKBi | PA36341 |
VEuPathDBi | HostDB:ENSG00000102125.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2847, Eukaryota |
GeneTreei | ENSGT00390000018621 |
InParanoidi | Q16635 |
OMAi | VYNKHII |
OrthoDBi | 215180at2759 |
PhylomeDBi | Q16635 |
TreeFami | TF313862 |
Enzyme and pathway databases
PathwayCommonsi | Q16635 |
Reactomei | R-HSA-1268020, Mitochondrial protein import R-HSA-1482798, Acyl chain remodeling of CL |
Miscellaneous databases
BioGRID-ORCSi | 6901, 114 hits in 521 CRISPR screens |
ChiTaRSi | TAZ, human |
GeneWikii | Tafazzin |
GenomeRNAii | 6901 |
Pharosi | Q16635, Tbio |
PROi | PR:Q16635 |
RNActi | Q16635, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000102125, Expressed in small intestine Peyer's patch and 191 other tissues |
ExpressionAtlasi | Q16635, baseline and differential |
Genevisiblei | Q16635, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002123, Plipid/glycerol_acylTrfase IPR000872, Tafazzin |
PANTHERi | PTHR12497, PTHR12497, 1 hit |
Pfami | View protein in Pfam PF01553, Acyltransferase, 1 hit |
PRINTSi | PR00979, TAFAZZIN |
SMARTi | View protein in SMART SM00563, PlsC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TAZ_HUMAN | |
Accessioni | Q16635Primary (citable) accession number: Q16635 Secondary accession number(s): A3KQT2 Q86XR0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1996 | |
Last modified: | February 10, 2021 | |
This is version 177 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants