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Protein

Tafazzin

Gene

TAZ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Some isoforms may be involved in cardiolipin (CL) metabolism.2 Publications

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import
R-HSA-1482798 Acyl chain remodeling of CL

Names & Taxonomyi

Protein namesi
Recommended name:
Tafazzin
Alternative name(s):
Protein G4.5
Gene namesi
Name:TAZ
Synonyms:EFE2, G4.5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102125.15
HGNCiHGNC:11577 TAZ
MIMi300394 gene
neXtProtiNX_Q16635

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1 – 30Helical; Signal-anchorSequence analysisAdd BLAST30

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Barth syndrome (BTHS)4 Publications
The disease is caused by mutations 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.
See also OMIM:302060
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01411094R → S in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894942EnsemblClinVar.1
Natural variantiVAR_014111118C → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894937EnsemblClinVar.1
Natural variantiVAR_014112197G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs132630277EnsemblClinVar.1
Natural variantiVAR_068434240G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs387907218EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi6901
GeneReviewsiTAZ
MalaCardsiTAZ
MIMi302060 phenotype
OpenTargetsiENSG00000102125
Orphaneti111 Barth syndrome
154 Familial isolated dilated cardiomyopathy
54260 Left ventricular noncompaction
PharmGKBiPA36341

Polymorphism and mutation databases

BioMutaiTAZ
DMDMi2498992

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002209281 – 292TafazzinAdd BLAST292

Proteomic databases

EPDiQ16635
MaxQBiQ16635
PaxDbiQ16635
PeptideAtlasiQ16635
PRIDEiQ16635
ProteomicsDBi60983
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

iPTMnetiQ16635
PhosphoSitePlusiQ16635

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

BgeeiENSG00000102125 Expressed in 177 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_TAZ
ExpressionAtlasiQ16635 baseline and differential
GenevisibleiQ16635 HS

Organism-specific databases

HPAiHPA039557

Interactioni

Protein-protein interaction databases

BioGridi112764, 117 interactors
IntActiQ16635, 2 interactors
STRINGi9606.ENSP00000299328

Structurei

3D structure databases

ProteinModelPortaliQ16635
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni124 – 194HydrophilicAdd BLAST71

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 helix

Phylogenomic databases

eggNOGiKOG2847 Eukaryota
ENOG410XT5T LUCA
GeneTreeiENSGT00390000018621
HOVERGENiHBG055923
InParanoidiQ16635
KOiK13511
OMAiIVHSGFE
OrthoDBiEOG091G0DPL
PhylomeDBiQ16635
TreeFamiTF313862

Family and domain databases

InterProiView protein in InterPro
IPR002123 Plipid/glycerol_acylTrfase
IPR000872 Tafazzin
PANTHERiPTHR12497 PTHR12497, 1 hit
PfamiView protein in Pfam
PF01553 Acyltransferase, 1 hit
PRINTSiPR00979 TAFAZZIN
SMARTiView protein in SMART
SM00563 PlsC, 1 hit

Sequences (9+)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 9 described isoforms and 6 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:292
Mass (Da):33,459
Last modified:November 1, 1996 - v1
Checksum:i2805E0962DC4FE52
GO
Isoform 2 (identifier: Q16635-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Show »
Length:268
Mass (Da):30,803
Checksum:i857BFA0FC9DFB6EA
GO
Isoform 3 (identifier: Q16635-3) [UniParc]FASTAAdd to basket
Also known as: Del_exon_5

The sequence of this isoform differs from the canonical sequence as follows:
     124-153: Missing.

Show »
Length:262
Mass (Da):30,203
Checksum:iAE7F4EBF505C7F63
GO
Isoform 4 (identifier: Q16635-4) [UniParc]FASTAAdd to basket
Also known as: Del_exon_6

The sequence of this isoform differs from the canonical sequence as follows:
     154-180: Missing.

Show »
Length:265
Mass (Da):30,331
Checksum:iE2FFF553E9576B5A
GO
Isoform 5 (identifier: Q16635-5) [UniParc]FASTAAdd to basket
Also known as: Del_exon_7

The sequence of this isoform differs from the canonical sequence as follows:
     181-194: Missing.

Show »
Length:278
Mass (Da):31,748
Checksum:i350624E72B677BE8
GO
Isoform 6 (identifier: Q16635-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     181-194: Missing.

Show »
Length:254
Mass (Da):29,092
Checksum:iCA3073742FC132D0
GO
Isoform 7 (identifier: Q16635-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-153: Missing.
     181-194: Missing.

Show »
Length:248
Mass (Da):28,492
Checksum:iE23FAFFC359721CA
GO
Isoform 8 (identifier: Q16635-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     124-153: Missing.

Show »
Length:238
Mass (Da):27,547
Checksum:i53323D6698054515
GO
Isoform 9 (identifier: Q16635-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     124-153: Missing.
     181-194: Missing.

Show »
Length:224
Mass (Da):25,836
Checksum:i94B5C890BB4DEAAC
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J699C9J699_HUMAN
Tafazzin
TAZ
184Annotation score:
A0A087WWD5A0A087WWD5_HUMAN
Tafazzin isoform 4
TAZ
95Annotation score:
A0A087WYT1A0A087WYT1_HUMAN
Tafazzin
TAZ
196Annotation score:
A0A087X0T0A0A087X0T0_HUMAN
Tafazzin
TAZ
170Annotation score:
F6Y2X3F6Y2X3_HUMAN
Tafazzin isoform 1
TAZ
262Annotation score:
H7C2I9H7C2I9_HUMAN
Tafazzin
TAZ
34Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01411094R → S in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894942EnsemblClinVar.1
Natural variantiVAR_014111118C → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894937EnsemblClinVar.1
Natural variantiVAR_014112197G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs132630277EnsemblClinVar.1
Natural variantiVAR_068434240G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs387907218EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0116091 – 24Missing in isoform 2, isoform 6, isoform 8 and isoform 9. CuratedAdd BLAST24
Alternative sequenceiVSP_004451124 – 153Missing in isoform 3, isoform 7, isoform 8 and isoform 9. CuratedAdd BLAST30
Alternative sequenceiVSP_004452154 – 180Missing in isoform 4. CuratedAdd BLAST27
Alternative sequenceiVSP_004453181 – 194Missing in isoform 5, isoform 6, isoform 7 and isoform 9. CuratedAdd BLAST14

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X92763, X92764 Genomic DNA Translation: CAA63419.1
X92762 mRNA Translation: CAA63418.1
AY231461 mRNA Translation: AAO84335.1
AY231462 mRNA Translation: AAO84336.1
AY231463 mRNA Translation: AAO84337.1
AY231464 mRNA Translation: AAO84338.1
AY258036 mRNA Translation: AAO84339.1
AY258037 mRNA Translation: AAO84340.1
AY258038 mRNA Translation: AAO84341.1
AY258039 mRNA Translation: AAO84342.1
AK291848 mRNA Translation: BAF84537.1
BX936347 Genomic DNA Translation: CAI43207.1
BX936347 Genomic DNA Translation: CAI43208.1
BX936347 Genomic DNA Translation: CAI43209.1
BX936347 Genomic DNA Translation: CAI43211.1
BX936347 Genomic DNA Translation: CAM45851.1
CH471172 Genomic DNA Translation: EAW72720.1
CH471172 Genomic DNA Translation: EAW72728.1
CCDSiCCDS14748.1 [Q16635-1]
CCDS14749.1 [Q16635-3]
CCDS14750.1 [Q16635-5]
CCDS35450.1 [Q16635-7]
RefSeqiNP_000107.1, NM_000116.4 [Q16635-1]
NP_001290394.1, NM_001303465.1
NP_851828.1, NM_181311.3 [Q16635-3]
NP_851829.1, NM_181312.3 [Q16635-5]
NP_851830.1, NM_181313.3 [Q16635-7]
UniGeneiHs.409911

Genome annotation databases

EnsembliENST00000475699; ENSP00000419854; ENSG00000102125 [Q16635-5]
ENST00000601016; ENSP00000469981; ENSG00000102125 [Q16635-1]
ENST00000612460; ENSP00000481037; ENSG00000102125 [Q16635-3]
ENST00000613002; ENSP00000478154; ENSG00000102125 [Q16635-7]
GeneIDi6901
KEGGihsa:6901
UCSCiuc033fbm.2 human [Q16635-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

TAZbase

TAZ mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X92763, X92764 Genomic DNA Translation: CAA63419.1
X92762 mRNA Translation: CAA63418.1
AY231461 mRNA Translation: AAO84335.1
AY231462 mRNA Translation: AAO84336.1
AY231463 mRNA Translation: AAO84337.1
AY231464 mRNA Translation: AAO84338.1
AY258036 mRNA Translation: AAO84339.1
AY258037 mRNA Translation: AAO84340.1
AY258038 mRNA Translation: AAO84341.1
AY258039 mRNA Translation: AAO84342.1
AK291848 mRNA Translation: BAF84537.1
BX936347 Genomic DNA Translation: CAI43207.1
BX936347 Genomic DNA Translation: CAI43208.1
BX936347 Genomic DNA Translation: CAI43209.1
BX936347 Genomic DNA Translation: CAI43211.1
BX936347 Genomic DNA Translation: CAM45851.1
CH471172 Genomic DNA Translation: EAW72720.1
CH471172 Genomic DNA Translation: EAW72728.1
CCDSiCCDS14748.1 [Q16635-1]
CCDS14749.1 [Q16635-3]
CCDS14750.1 [Q16635-5]
CCDS35450.1 [Q16635-7]
RefSeqiNP_000107.1, NM_000116.4 [Q16635-1]
NP_001290394.1, NM_001303465.1
NP_851828.1, NM_181311.3 [Q16635-3]
NP_851829.1, NM_181312.3 [Q16635-5]
NP_851830.1, NM_181313.3 [Q16635-7]
UniGeneiHs.409911

3D structure databases

ProteinModelPortaliQ16635
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112764, 117 interactors
IntActiQ16635, 2 interactors
STRINGi9606.ENSP00000299328

PTM databases

iPTMnetiQ16635
PhosphoSitePlusiQ16635

Polymorphism and mutation databases

BioMutaiTAZ
DMDMi2498992

Proteomic databases

EPDiQ16635
MaxQBiQ16635
PaxDbiQ16635
PeptideAtlasiQ16635
PRIDEiQ16635
ProteomicsDBi60983
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

DNASUi6901
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000475699; ENSP00000419854; ENSG00000102125 [Q16635-5]
ENST00000601016; ENSP00000469981; ENSG00000102125 [Q16635-1]
ENST00000612460; ENSP00000481037; ENSG00000102125 [Q16635-3]
ENST00000613002; ENSP00000478154; ENSG00000102125 [Q16635-7]
GeneIDi6901
KEGGihsa:6901
UCSCiuc033fbm.2 human [Q16635-1]

Organism-specific databases

CTDi6901
DisGeNETi6901
EuPathDBiHostDB:ENSG00000102125.15
GeneCardsiTAZ
GeneReviewsiTAZ
HGNCiHGNC:11577 TAZ
HPAiHPA039557
MalaCardsiTAZ
MIMi300394 gene
302060 phenotype
neXtProtiNX_Q16635
OpenTargetsiENSG00000102125
Orphaneti111 Barth syndrome
154 Familial isolated dilated cardiomyopathy
54260 Left ventricular noncompaction
PharmGKBiPA36341
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2847 Eukaryota
ENOG410XT5T LUCA
GeneTreeiENSGT00390000018621
HOVERGENiHBG055923
InParanoidiQ16635
KOiK13511
OMAiIVHSGFE
OrthoDBiEOG091G0DPL
PhylomeDBiQ16635
TreeFamiTF313862

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import
R-HSA-1482798 Acyl chain remodeling of CL

Miscellaneous databases

ChiTaRSiTAZ human
GeneWikiiTafazzin
GenomeRNAii6901
PROiPR:Q16635
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102125 Expressed in 177 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_TAZ
ExpressionAtlasiQ16635 baseline and differential
GenevisibleiQ16635 HS

Family and domain databases

InterProiView protein in InterPro
IPR002123 Plipid/glycerol_acylTrfase
IPR000872 Tafazzin
PANTHERiPTHR12497 PTHR12497, 1 hit
PfamiView protein in Pfam
PF01553 Acyltransferase, 1 hit
PRINTSiPR00979 TAFAZZIN
SMARTiView protein in SMART
SM00563 PlsC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTAZ_HUMAN
AccessioniPrimary (citable) accession number: Q16635
Secondary accession number(s): A3KQT2
, D3DWX2, Q5HY43, Q5HY44, Q5HY45, Q5HY48, Q86XQ6, Q86XQ7, Q86XQ8, Q86XQ9, Q86XR0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: September 12, 2018
This is version 159 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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