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    Tafazzin tafazzin, phospholipid-lysophospholipid transacylase [ Mus musculus (house mouse) ]

    Gene ID: 66826, updated on 16-Aug-2021

    Summary

    Official Symbol
    Tafazzinprovided by MGI
    Official Full Name
    tafazzin, phospholipid-lysophospholipid transacylaseprovided by MGI
    Primary source
    MGI:MGI:109626
    See related
    Ensembl:ENSMUSG00000009995
    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
    Taz; 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]
    Annotation information
    Note: Wwtr1 (Gene ID: 97064) and Taz (Gene ID: 66826) loci share the Taz symbol/alias in common. [08 Feb 2019]
    Expression
    Ubiquitous expression in bladder adult (RPKM 22.8), genital fat pad adult (RPKM 22.0) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Tafazzin in Genome Data Viewer
    Location:
    X A7.3; X 37.95 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (73325498..73340182)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (74281900..74295319)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (71528036..71535490)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1-like 1 Neighboring gene microRNA 7091 Neighboring gene predicted gene 14846 Neighboring gene ATPase, H+ transporting, lysosomal accessory protein 1 Neighboring gene guanosine diphosphate (GDP) dissociation inhibitor 1

    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 Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 1-acylglycerophosphocholine O-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables 1-acylglycerophosphocholine O-acyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables O-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cardiac muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac muscle tissue development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiolipin acyl-chain remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cardiolipin biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiolipin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiolipin metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cristae formation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hemopoiesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in inner mitochondrial membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrial ATP synthesis coupled electron transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrial respiratory chain complex I assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitophagy ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within phosphatidylglycerol metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phospholipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ATP biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cardiolipin metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in skeletal muscle tissue development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in spermatocyte division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      ENSMUSP00000109818.5, ENSMUST00000114180.11
      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
      ENSMUSP00000135593.2, ENSMUST00000114182.11
      Conserved Domains (1) summary
      pfam01553
      Location:41186
      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
      ENSMUSP00000134745.2, ENSMUST00000124200.8
      Conserved Domains (1) summary
      pfam01553
      Location:41185
      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
      ENSMUSP00000135308.2, ENSMUST00000132437.8
      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
      ENSMUSP00000065270.7, ENSMUST00000069722.13
      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 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      73325498..73340182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528244.3XP_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_006528246.3XP_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_006528247.4XP_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_006528248.4XP_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_011247662.2XP_011245964.1  tafazzin isoform X5

      Conserved Domains (1) summary
      pfam01553
      Location:41186
      Acyltransferase
    6. XM_030251481.2XP_030107341.1  tafazzin isoform X6

      Conserved Domains (1) summary
      pfam01553
      Location:41185
      Acyltransferase
    7. XM_036162077.1XP_036017970.1  tafazzin isoform X9

      Conserved Domains (1) summary
      pfam01553
      Location:41186
      Acyltransferase
    8. XM_030251482.2XP_030107342.1  tafazzin isoform X10

      Conserved Domains (1) summary
      pfam01553
      Location:41185
      Acyltransferase
    9. XM_036162078.1XP_036017971.1  tafazzin isoform X13

      Conserved Domains (1) summary
      cl17185
      Location:41158
      LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
    10. XM_006528249.3XP_006528312.1  tafazzin isoform X7

      See identical proteins and their annotated locations for XP_006528312.1

      Conserved Domains (1) summary
      pfam01553
      Location:41186
      Acyltransferase
    11. XM_006528250.4XP_006528313.1  tafazzin isoform X8

      See identical proteins and their annotated locations for XP_006528313.1

      UniProtKB/TrEMBL
      Q810E8
      Conserved Domains (1) summary
      pfam01553
      Location:41185
      Acyltransferase
    12. XM_011247664.2XP_011245966.1  tafazzin isoform X11

      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
    13. XM_030251483.2XP_030107343.1  tafazzin isoform X12

      Conserved Domains (1) summary
      cl17185
      Location:41158
      LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
    14. XM_036162076.1XP_036017969.1  tafazzin isoform X2

      Conserved Domains (1) summary
      cd07989
      Location:34241
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    RNA

    1. XR_003953022.2 RNA Sequence

    2. XR_386926.4 RNA Sequence

    3. XR_004940360.1 RNA Sequence

      Related
      ENSMUST00000156212.8
    4. XR_003953023.2 RNA Sequence

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