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

Summary

Official Symbol: Tafazzinprovided by MGI
Official Full Name: tafazzin, phospholipid-lysophospholipid transacylaseprovided by MGI
Primary source: MGI:MGI:109626
See related: Ensembl:ENSMUSG00000009995 AllianceGenome:MGI:109626
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; 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: human all
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Genomic context

Location:: X A7.3; X 37.95 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AMPK stimulation inhibits YAP/TAZ signaling to ameliorate hepatic fibrosis.
Title: AMPK stimulation inhibits YAP/TAZ signaling to ameliorate hepatic fibrosis.
YAP and TAZ regulate remyelination in the central nervous system.
Title: YAP and TAZ regulate remyelination in the central nervous system.
Elabela-APJ axis mediates angiogenesis via YAP/TAZ pathway in cerebral ischemia/reperfusion injury.
Title: Elabela-APJ axis mediates angiogenesis via YAP/TAZ pathway in cerebral ischemia/reperfusion injury.
Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical Features of Late-Onset Fuchs' Endothelial Corneal Dystrophy.
Title: Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical Features of Late-Onset Fuchs' Endothelial Corneal Dystrophy.
Tafazzin deficiency attenuates anti-cluster of differentiation 40 and interleukin-4 activation of mouse B lymphocytes.
Title: Tafazzin deficiency attenuates anti-cluster of differentiation 40 and interleukin-4 activation of mouse B lymphocytes.
Tafazzin deficiency in mouse mesenchymal stem cells promote reprogramming of activated B lymphocytes toward immunosuppressive phenotypes.
Title: Tafazzin deficiency in mouse mesenchymal stem cells promote reprogramming of activated B lymphocytes toward immunosuppressive phenotypes.
A new murine model of Barth syndrome neutropenia links TAFAZZIN deficiency to increased ER stress-induced apoptosis.
Title: A new murine model of Barth syndrome neutropenia links TAFAZZIN deficiency to increased ER stress-induced apoptosis.
Tafazzin Modulates Allergen-Induced Mast Cell Inflammatory Mediator Secretion.
Title: Tafazzin Modulates Allergen-Induced Mast Cell Inflammatory Mediator Secretion.
Tafazzin deficiency impairs mitochondrial metabolism and function of lipopolysaccharide activated B lymphocytes in mice.
Title: Tafazzin deficiency impairs mitochondrial metabolism and function of lipopolysaccharide activated B lymphocytes in mice.
Tafazzin Deficiency Reduces Basal Insulin Secretion and Mitochondrial Function in Pancreatic Islets From Male Mice.
Title: Tafazzin Deficiency Reduces Basal Insulin Secretion and Mitochondrial Function in Pancreatic Islets From Male Mice.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (5) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 1-acylglycerophosphocholine O-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-acylglycerophosphocholine O-acyltransferase activity	ISO Inferred from Sequence Orthology more info
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
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
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
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 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
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: tafazzin

NP_001167018.1

EC 2.3.1.-

NP_001229544.1

EC 2.3.1.-

NP_001229545.1

EC 2.3.1.-

NP_001277667.1

EC 2.3.1.-

NP_852657.1

EC 2.3.1.-

XP_006528307.1

EC 2.3.1.-

XP_006528309.1

EC 2.3.1.-

XP_006528310.1

EC 2.3.1.-

XP_006528311.1

EC 2.3.1.-

XP_006528312.1

EC 2.3.1.-

XP_006528313.1

EC 2.3.1.-

XP_011245964.1

EC 2.3.1.-

XP_011245966.1

EC 2.3.1.-

XP_030107341.1

EC 2.3.1.-

XP_030107342.1

EC 2.3.1.-

XP_030107343.1

EC 2.3.1.-

XP_036017969.1

EC 2.3.1.-

XP_036017970.1

EC 2.3.1.-

XP_036017971.1

EC 2.3.1.-

NCBI Reference Sequences (RefSeq)

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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)

NM_001173547.2 → NP_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, J3JS92

Related

ENSMUSP00000109818.5, ENSMUST00000114180.11

Conserved Domains (1) summary

cd07989
Location:34 → 242

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
NM_001242615.2 → NP_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

UniProtKB/TrEMBL

Q8BMZ3

Related

ENSMUSP00000135593.2, ENSMUST00000114182.11

Conserved Domains (1) summary

pfam01553
Location:41 → 186

Acyltransferase
NM_001242616.2 → NP_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

Q8BMZ3

Related

ENSMUSP00000134745.2, ENSMUST00000124200.8

Conserved Domains (1) summary

pfam01553
Location:41 → 185

Acyltransferase
NM_001290738.1 → NP_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, Q8BMZ3

Related

ENSMUSP00000135308.2, ENSMUST00000132437.8

Conserved Domains (1) summary

cl17185
Location:41 → 159

LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
NM_181516.6 → NP_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/Swiss-Prot

Q810E8, Q91WF0

UniProtKB/TrEMBL

J3JS92

Related

ENSMUSP00000065270.7, ENSMUST00000069722.13

Conserved Domains (1) summary

cd07989
Location:34 → 241

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

73325498..73340182

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006528244.3 → XP_006528307.1 tafazzin isoform X1

See identical proteins and their annotated locations for XP_006528307.1

UniProtKB/TrEMBL

I7HJS2, J3JS92

Conserved Domains (1) summary

cd07989
Location:34 → 242

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
XM_006528246.3 → XP_006528309.1 tafazzin isoform X2

See identical proteins and their annotated locations for XP_006528309.1

UniProtKB/Swiss-Prot

Q810E8, Q91WF0

UniProtKB/TrEMBL

J3JS92

Conserved Domains (1) summary

cd07989
Location:34 → 241

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
XM_006528247.4 → XP_006528310.1 tafazzin isoform X3

UniProtKB/TrEMBL

J3JS92

Conserved Domains (1) summary

cd07989
Location:34 → 215

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
XM_006528248.4 → XP_006528311.1 tafazzin isoform X4

UniProtKB/TrEMBL

J3JS92

Conserved Domains (1) summary

cd07989
Location:34 → 214

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
XM_011247662.2 → XP_011245964.1 tafazzin isoform X5

UniProtKB/TrEMBL

Q8BMZ3

Conserved Domains (1) summary

pfam01553
Location:41 → 186

Acyltransferase
XM_030251481.2 → XP_030107341.1 tafazzin isoform X6

UniProtKB/TrEMBL

Q8BMZ3

Conserved Domains (1) summary

pfam01553
Location:41 → 185

Acyltransferase
XM_036162077.1 → XP_036017970.1 tafazzin isoform X9

UniProtKB/TrEMBL

Q8BMZ3

Conserved Domains (1) summary

pfam01553
Location:41 → 186

Acyltransferase
XM_030251482.2 → XP_030107342.1 tafazzin isoform X10

UniProtKB/TrEMBL

Q8BMZ3

Conserved Domains (1) summary

pfam01553
Location:41 → 185

Acyltransferase
XM_036162078.1 → XP_036017971.1 tafazzin isoform X13

UniProtKB/TrEMBL

Q8BMZ3

Conserved Domains (1) summary

cl17185
Location:41 → 158

LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
XM_006528249.3 → XP_006528312.1 tafazzin isoform X7

See identical proteins and their annotated locations for XP_006528312.1

UniProtKB/TrEMBL

Q8BMZ3

Conserved Domains (1) summary

pfam01553
Location:41 → 186

Acyltransferase
XM_006528250.4 → XP_006528313.1 tafazzin isoform X8

See identical proteins and their annotated locations for XP_006528313.1

UniProtKB/TrEMBL

Q8BMZ3

Conserved Domains (1) summary

pfam01553
Location:41 → 185

Acyltransferase
XM_011247664.2 → XP_011245966.1 tafazzin isoform X11

See identical proteins and their annotated locations for XP_011245966.1

UniProtKB/TrEMBL

H3BK99, Q8BMZ3

Conserved Domains (1) summary

cl17185
Location:41 → 159

LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
XM_030251483.2 → XP_030107343.1 tafazzin isoform X12

UniProtKB/TrEMBL

Q8BMZ3

Conserved Domains (1) summary

cl17185
Location:41 → 158

LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
XM_036162076.1 → XP_036017969.1 tafazzin isoform X2

UniProtKB/Swiss-Prot

Q810E8, Q91WF0

UniProtKB/TrEMBL

J3JS92

Conserved Domains (1) summary

cd07989
Location:34 → 241

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like