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    TAZ tafazzin [ Homo sapiens (human) ]

    Gene ID: 6901, updated on 27-Jun-2015
    Official Symbol
    TAZprovided by HGNC
    Official Full Name
    tafazzinprovided by HGNC
    Primary source
    HGNC:HGNC:11577
    See related
    Ensembl:ENSG00000102125; HPRD:02316; 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]
    Orthologs
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 emerin Neighboring gene ribosomal protein L10 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene deoxyribonuclease I-like 1 Neighboring gene uncharacterized protein BC009467 Neighboring gene ATPase, H+ transporting, lysosomal accessory protein 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ27390

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-acylglycerophosphocholine O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    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 
    glycerophospholipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hemopoiesis IMP
    Inferred from Mutant Phenotype
    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 
    phospholipid metabolic process TAS
    Traceable Author Statement
    more info
     
    skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    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
     
    Preferred Names
    tafazzin
    Names
    tafazzin
    protein G4.5

    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
      4978..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
      Related
      ENSP00000469981, OTTHUMP00000276628, ENST00000601016, 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
      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
      Related
      ENSP00000481037, OTTHUMP00000276627, ENST00000612460, 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
      Related
      ENSP00000419854, OTTHUMP00000276625, ENST00000475699, 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
      Related
      ENSP00000478154, OTTHUMP00000276453, ENST00000613002, 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_006724836.1XP_006724899.1  

      Conserved Domains (1) summary
      cd07989
      Location:56289
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    2. XM_006724837.1XP_006724900.1  

      Related
      ENSP00000358791, OTTHUMP00000064897, ENST00000369776, OTTHUMT00000080943
      Conserved Domains (1) summary
      cd07989
      Location:56284
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    3. XM_006724839.1XP_006724902.1  

      Conserved Domains (1) summary
      cd07989
      Location:56245
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    4. XM_011531189.1XP_011529491.1  

      Conserved Domains (1) summary
      cl17185
      Location:59142
      LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
    5. XM_006724841.2XP_006724904.1  

      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
    6. XM_006724842.2XP_006724905.1  

      Conserved Domains (1) summary
      cd07989
      Location:41172
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    7. XM_011531190.1XP_011529492.1  

      See identical proteins and their annotated locations for XP_011529492.1

      Conserved Domains (1) summary
      cd07989
      Location:81202
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    8. XM_011531192.1XP_011529494.1  

      Conserved Domains (1) summary
      cd07989
      Location:57178
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    9. XM_011531191.1XP_011529493.1  

      Conserved Domains (1) summary
      cd07989
      Location:58179
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    RNA

    1. XR_938511.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      153551502..153561710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.