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TAZ tafazzin [ Homo sapiens (human) ]

Gene ID: 6901, updated on 21-Oct-2018

Summary

Official Symbol
TAZprovided by HGNC
Official Full Name
tafazzinprovided by HGNC
Primary source
HGNC:HGNC:11577
See related
Ensembl:ENSG00000102125 MIM:300394; Vega:OTTHUMG00000033190
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EFE; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX
Summary
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]
Annotation information
Note: TAZ (GeneID 6901) and WWTR1 (GeneID 25937) loci share the TAZ symbol/alias in common. TAZ is a widely used alternative name for the transcriptional coactivator with PDZ-binding motif (WWTR1) conflicting with the official symbol for tafazzin (TAZ). [19 Jun 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 11.6), spleen (RPKM 10.8) and 25 other tissues See more
Orthologs

Genomic context

See TAZ in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (154411518..154421726)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153639877..153650065)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Xq28 distal FLNA-EMD recombination region Neighboring gene ribosomal protein L10 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene deoxyribonuclease 1 like 1 Neighboring gene uncharacterized protein BC009467 Neighboring gene ATPase H+ transporting accessory protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Acyl chain remodeling of CL, organism-specific biosystem (from REACTOME)
    Acyl chain remodeling of CL, organism-specific biosystemAcyl chain remodeling of cardiolipin (CL) occurs in the inner mitochondria membranes (IM) via hydrolysis by phopholipases and subsequent reacylation by acyltransferases. At the endoplasmic reticulum...
  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
    Glycerophospholipid metabolism, organism-specific biosystem
    Glycerophospholipid metabolism
  • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
    Glycerophospholipid metabolism, conserved biosystem
    Glycerophospholipid metabolism
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ27390

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiolipin acyl-chain remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiolipin acyl-chain remodeling TAS
Traceable Author Statement
more info
 
cardiolipin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
hemopoiesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner mitochondrial membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial ATP synthesis coupled electron transport IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ATP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiolipin metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IC
Inferred by Curator
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
tafazzin
Names
protein G4.5
transcriptional coactivator with PDZ-binding motif

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009634.1 RefSeqGene

    Range
    5001..15189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000116.4NP_000107.1  tafazzin isoform 1

    See identical proteins and their annotated locations for NP_000107.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the major isoform (1).
    Source sequence(s)
    AL531401, BC005062, X92762
    Consensus CDS
    CCDS14748.1
    UniProtKB/Swiss-Prot
    Q16635
    UniProtKB/TrEMBL
    A0A0S2Z4K0
    Related
    ENSP00000469981.1, OTTHUMP00000276628, ENST00000601016.5, OTTHUMT00000080938
    Conserved Domains (1) summary
    cd07989
    Location:34271
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  2. NM_001303465.1NP_001290394.1  tafazzin isoform 5

    See identical proteins and their annotated locations for NP_001290394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice junction in the 5' coding region and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (5) contains an alternate segment near the N-terminus and lacks an alternate segment near the C-terminus compared to isoform 1.
    Source sequence(s)
    AL531401, BC005062, DB192394, DQ884408, X92762
    UniProtKB/Swiss-Prot
    Q16635
    UniProtKB/TrEMBL
    A6XNE1
    Conserved Domains (1) summary
    cd07989
    Location:56275
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  3. NM_181311.3NP_851828.1  tafazzin isoform 2

    See identical proteins and their annotated locations for NP_851828.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) compared to isoform 1.
    Source sequence(s)
    AL531401, AY231461, BC005062, DB192394, X92762
    Consensus CDS
    CCDS14749.1
    UniProtKB/Swiss-Prot
    Q16635
    UniProtKB/TrEMBL
    A0A0S2Z4E6
    Related
    ENSP00000481037.1, OTTHUMP00000276627, ENST00000612460.4, OTTHUMT00000080939
    Conserved Domains (1) summary
    cd07989
    Location:34241
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  4. NM_181312.3NP_851829.1  tafazzin isoform 3

    See identical proteins and their annotated locations for NP_851829.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (3) compared to isoform 1.
    Source sequence(s)
    AL531401, AY231462, BC005062, DB192394, X92762
    Consensus CDS
    CCDS14750.1
    UniProtKB/Swiss-Prot
    Q16635
    UniProtKB/TrEMBL
    A0A0S2Z4K9
    Related
    ENSP00000419854.2, OTTHUMP00000276625, ENST00000475699.5, OTTHUMT00000080940
    Conserved Domains (1) summary
    cd07989
    Location:34257
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  5. NM_181313.3NP_851830.1  tafazzin isoform 4

    See identical proteins and their annotated locations for NP_851830.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two in-frame coding exons compared to variant 1, resulting in a shorter isoform (4) compared to isoform 1.
    Source sequence(s)
    AL531401, AY231463, BC005062, DB192394, X92762
    Consensus CDS
    CCDS35450.1
    UniProtKB/Swiss-Prot
    Q16635
    UniProtKB/TrEMBL
    A0A0S2Z4F4
    Related
    ENSP00000478154.1, OTTHUMP00000276453, ENST00000613002.4, OTTHUMT00000080941
    Conserved Domains (1) summary
    cd07989
    Location:34227
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

RNA

  1. NR_024048.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate donor splice site at one of the coding exons, and is also lacking an internal coding exon compared to variant 1. This results in premature translation termination rendering this transcript susceptible to NMD. This variant has transcript support, but is not expected to encode a viable protein product.
    Source sequence(s)
    AL531401, BC005062
    Related
    ENST00000615986.4, OTTHUMT00000080942

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    154411518..154421726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724836.1XP_006724899.1  tafazzin isoform X1

    Conserved Domains (1) summary
    cd07989
    Location:56289
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  2. XM_017029762.1XP_016885251.1  tafazzin isoform X4

  3. XM_006724837.1XP_006724900.1  tafazzin isoform X2

    Related
    ENSP00000358791.4, OTTHUMP00000064897, ENST00000369776.8, OTTHUMT00000080943
    Conserved Domains (2) summary
    COG0204
    Location:60294
    PlsC; 1-acyl-sn-glycerol-3-phosphate acyltransferase [Lipid transport and metabolism]
    pfam01553
    Location:59169
    Acyltransferase; Acyltransferase
  4. XM_006724839.1XP_006724902.1  tafazzin isoform X6

    Conserved Domains (1) summary
    cd07989
    Location:56245
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  5. XM_024452431.1XP_024308199.1  tafazzin isoform X5

    Conserved Domains (1) summary
    cl17185
    Location:59142
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
  6. XM_011531189.1XP_011529491.1  tafazzin isoform X7

    Conserved Domains (1) summary
    cl17185
    Location:59142
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
  7. XM_017029761.1XP_016885250.1  tafazzin isoform X3

  8. XM_017029763.1XP_016885252.1  tafazzin isoform X9

  9. XM_006724841.4XP_006724904.1  tafazzin isoform X8

    See identical proteins and their annotated locations for XP_006724904.1

    Conserved Domains (1) summary
    cd07989
    Location:81202
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  10. XM_006724842.4XP_006724905.1  tafazzin isoform X12

    Conserved Domains (1) summary
    cd07989
    Location:41172
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  11. XM_017029765.2XP_016885254.1  tafazzin isoform X13

  12. XM_011531191.2XP_011529493.1  tafazzin isoform X10

    Conserved Domains (1) summary
    cd07989
    Location:58179
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  13. XM_017029764.1XP_016885253.1  tafazzin isoform X11

    Conserved Domains (1) summary
    cd07989
    Location:57178
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181314.1: Suppressed sequence

    Description
    NM_181314.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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