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    Taz tafazzin [ Mus musculus (house mouse) ]

    Gene ID: 66826, updated on 18-Nov-2018

    Summary

    Official Symbol
    Tazprovided by MGI
    Official Full Name
    tafazzinprovided by MGI
    Primary source
    MGI:MGI:109626
    See related
    Ensembl:ENSMUSG00000009995 Vega:OTTMUSG00000017668
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    G4.5; AW107266; AW552613; 5031411C02Rik; 9130012G04Rik
    Summary
    This gene encodes a mitochondrial phospholipid-lysophospholipid transacylase necessary for normal composition and content of cardiolipin. In humans, mutations of this gene result in Barth syndrome, most often characterized by cardioskeletal myopathy, neutropenia and abnormal mitochondria. This gene is distinct from the gene encoding transcriptional coactivator with PDZ binding motif. Both genes share the gene symbol Taz. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in bladder adult (RPKM 22.8), genital fat pad adult (RPKM 22.0) and 28 other tissues See more
    Orthologs

    Genomic context

    See Taz in Genome Data Viewer
    Location:
    X A7.3; X 37.95 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (74281900..74295319)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (71528036..71535490)

    Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1-like 1 Neighboring gene microRNA 7091 Neighboring gene small nuclear ribonucleoprotein G pseudogene Neighboring gene ATPase, H+ transporting, lysosomal accessory protein 1 Neighboring gene guanosine diphosphate (GDP) dissociation inhibitor 1 Neighboring gene family with sequence similarity 50, member A Neighboring gene microRNA 7092

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    1-acylglycerophosphocholine O-acyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    cardiac muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    cardiac muscle tissue development ISO
    Inferred from Sequence Orthology
    more info
     
    cardiolipin acyl-chain remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cardiolipin biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    cristae formation ISO
    Inferred from Sequence Orthology
    more info
     
    heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heart development ISO
    Inferred from Sequence Orthology
    more info
     
    hemopoiesis ISO
    Inferred from Sequence Orthology
    more info
     
    inner mitochondrial membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial ATP synthesis coupled electron transport ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrial respiratory chain complex I assembly ISO
    Inferred from Sequence Orthology
    more info
     
    muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    phosphatidylglycerol metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of ATP biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cardiolipin metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    skeletal muscle tissue development ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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.

    mRNA and Protein(s)

    1. NM_001173547.2NP_001167018.1  tafazzin isoform 1

      See identical proteins and their annotated locations for NP_001167018.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL807376
      Consensus CDS
      CCDS53107.1
      UniProtKB/TrEMBL
      I7HJS2
      Related
      ENSMUSP00000109818.4, OTTMUSP00000021189, ENSMUST00000114180.10, OTTMUST00000046890
      Conserved Domains (1) summary
      cd07989
      Location:34242
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    2. NM_001242615.2NP_001229544.1  tafazzin isoform 3

      See identical proteins and their annotated locations for NP_001229544.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL807376
      Related
      ENSMUSP00000135593.1, OTTMUSP00000058148, ENSMUST00000114182.10, OTTMUST00000103978
      Conserved Domains (1) summary
      pfam01553
      Location:41186
      Acyltransferase; Acyltransferase
    3. NM_001242616.2NP_001229545.1  tafazzin isoform 4

      See identical proteins and their annotated locations for NP_001229545.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK160327, AL807376
      Consensus CDS
      CCDS57764.1
      UniProtKB/TrEMBL
      Q810E8
      Related
      ENSMUSP00000134745.1, OTTMUSP00000058145, ENSMUST00000124200.7, OTTMUST00000044086
      Conserved Domains (1) summary
      pfam01553
      Location:41185
      Acyltransferase; Acyltransferase
    4. NM_001290738.1NP_001277667.1  tafazzin isoform 5

      See identical proteins and their annotated locations for NP_001277667.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. This resulting protein (isoform 5) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK160327, AL807376, CD807936
      Consensus CDS
      CCDS72400.1
      UniProtKB/TrEMBL
      H3BK99, Q810E8
      Related
      ENSMUSP00000135308.1, OTTMUSP00000058146, ENSMUST00000132437.7, OTTMUST00000046889
      Conserved Domains (1) summary
      cl17185
      Location:41159
      LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
    5. NM_181516.6NP_852657.1  tafazzin isoform 2

      See identical proteins and their annotated locations for NP_852657.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AL807376
      Consensus CDS
      CCDS30224.1
      UniProtKB/TrEMBL
      Q91WF0
      Related
      ENSMUSP00000065270.6, OTTMUSP00000019253, ENSMUST00000069722.12, OTTMUST00000042866
      Conserved Domains (1) summary
      cd07989
      Location:34241
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

      Range
      74281900..74295319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528244.2XP_006528307.1  tafazzin isoform X1

      See identical proteins and their annotated locations for XP_006528307.1

      UniProtKB/TrEMBL
      I7HJS2
      Conserved Domains (1) summary
      cd07989
      Location:34242
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    2. XM_006528246.2XP_006528309.1  tafazzin isoform X2

      See identical proteins and their annotated locations for XP_006528309.1

      UniProtKB/TrEMBL
      Q91WF0
      Conserved Domains (1) summary
      cd07989
      Location:34241
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    3. XM_006528247.2XP_006528310.1  tafazzin isoform X3

      Conserved Domains (1) summary
      cd07989
      Location:34215
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    4. XM_006528248.2XP_006528311.1  tafazzin isoform X4

      Conserved Domains (1) summary
      cd07989
      Location:34214
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    5. XM_011247662.1XP_011245964.1  tafazzin isoform X5

      Conserved Domains (1) summary
      pfam01553
      Location:41186
      Acyltransferase; Acyltransferase
    6. XM_006528249.2XP_006528312.1  tafazzin isoform X6

      See identical proteins and their annotated locations for XP_006528312.1

      Conserved Domains (1) summary
      pfam01553
      Location:41186
      Acyltransferase; Acyltransferase
    7. XM_006528250.3XP_006528313.1  tafazzin isoform X7

      See identical proteins and their annotated locations for XP_006528313.1

      UniProtKB/TrEMBL
      Q810E8
      Conserved Domains (1) summary
      pfam01553
      Location:41185
      Acyltransferase; Acyltransferase
    8. XM_011247664.1XP_011245966.1  tafazzin isoform X8

      See identical proteins and their annotated locations for XP_011245966.1

      UniProtKB/TrEMBL
      H3BK99
      Conserved Domains (1) summary
      cl17185
      Location:41159
      LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

    RNA

    1. XR_386926.2 RNA Sequence

      Related
      ENSMUST00000156212.7
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