Reviewed, UniProtKB/Swiss-Prot Q16635 (TAZ_HUMAN)

Names and origin

Protein names

Recommended name:
    Tafazzin
Alternative name(s):
    Protein G4.5

Gene names

Name:	TAZ
Synonyms:	EFE2, G4.5

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	292 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Some isoforms may be involved in cardiolipin metabolism.
Subcellular location	Membrane; Single-pass membrane protein. Cytoplasm. Note= Isoforms with hydrophobic N-terminus are thought to be membrane anchored. The shortest forms, lacking the hydrophobic stretch, may be soluble cytoplasmic proteins.
Tissue specificity	High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N-terminus are found in leukocytes and fibroblasts, but not in heart and skeletal muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes.
Domain	The hydrophilic domain may serve as an exposed loop interacting with other proteins.
Involvement in disease	Defects in TAZ are the cause of 3-methylglutaconic aciduria type 2 (MGA2) [MIM:302060]. MGA2 is a severe metabolic disorder, often fatal in childhood, characterized by dilated cardiomyopathy, skeletal myopathy, short stature, neutropenia and 3-methylglutaconicaciduria. Defects in TAZ are the cause of non-compaction of left ventricular myocardium isolated X-linked (LVNCX) [MIM:300183]. LVNC is due to an arrest of myocardial morphogenesis. The disorder is characterized by a hypertrophic left ventricular with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, the right ventricle is also affected.
Sequence similarities	Belongs to the taffazin family.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Alternative splicing
Disease	Cardiomyopathy Disease mutation
Domain	Transmembrane
Gene Ontology (GO)
Biological process	cardiac muscle contraction Inferred from mutant phenotype. Source: UniProtKB cardiac muscle development Inferred from mutant phenotype. Source: HGNC cardiolipin biosynthetic process Inferred from mutant phenotype. Source: HGNC cristae formation Inferred from mutant phenotype. Source: HGNC hemopoiesis Inferred from mutant phenotype. Source: HGNC mitochondrial ATP synthesis coupled electron transport Inferred from direct assay. Source: UniProtKB mitochondrial respiratory chain complex I assembly Inferred from mutant phenotype. Source: HGNC skeletal muscle development Inferred from mutant phenotype. Source: HGNC
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrion Inferred from direct assay. Source: UniProtKB
Molecular function	1-acylglycerophosphocholine O-acyltransferase activity Ref.3 Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 9 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q16635-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q16635-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Isoform 3 (identifier: Q16635-3)

Also known as: Del_exon_5;

The sequence of this isoform differs from the canonical sequence as follows:
     124-153: Missing.

Isoform 4 (identifier: Q16635-4)

Also known as: Del_exon_6;

The sequence of this isoform differs from the canonical sequence as follows:
     154-180: Missing.

Isoform 5 (identifier: Q16635-5)

Also known as: Del_exon_7;

The sequence of this isoform differs from the canonical sequence as follows:
     181-194: Missing.

Isoform 6 (identifier: Q16635-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     181-194: Missing.

Isoform 7 (identifier: Q16635-7)

The sequence of this isoform differs from the canonical sequence as follows:
     124-153: Missing.
     181-194: Missing.

Isoform 8 (identifier: Q16635-8)

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     124-153: Missing.

Isoform 9 (identifier: Q16635-9)

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     124-153: Missing.
     181-194: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 292	292	Tafazzin		PRO_0000220928
Regions
	Transmembrane	1 – 30	30	Membrane anchor Potential
	Region	124 – 194	71	Hydrophilic
Natural variations
	Alternative sequence	1 – 24	24	Missing in isoform 2, isoform 6, isoform 8 and isoform 9.		VSP_011609
	Alternative sequence	124 – 153	30	Missing in isoform 3, isoform 7, isoform 8 and isoform 9.		VSP_004451
	Alternative sequence	154 – 180	27	Missing in isoform 4.		VSP_004452
	Alternative sequence	181 – 194	14	Missing in isoform 5, isoform 6, isoform 7 and isoform 9.		VSP_004453
	Natural variant	94	1	R → S in MGA2.		VAR_014110
	Natural variant	118	1	C → R in INVM.		VAR_014111
	Natural variant	197	1	G → R in INVM.		VAR_014112

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 2805E0962DC4FE52	FASTA	292	33,459
	10 20 30 40 50 60 MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTKYMN HLTVHNREVL YELIEKRGPA 70 80 90 100 110 120 TPLITVSNHQ SCMDDPHLWG ILKLRHIWNL KLMRWTPAAA DICFTKELHS HFFSLGKCVP 130 140 150 160 170 180 VCRGAEFFQA ENEGKGVLDT GRHMPGAGKR REKGDGVYQK GMDFILEKLN HGDWVHIFPE 190 200 210 220 230 240 GKVNMSSEFL RFKWGIGRLI AECHLNPIIL PLWHVGMNDV LPNSPPYFPR FGQKITVLIG 250 260 270 280 290 KPFSALPVLE RLRAENKSAV EMRKALTDFI QEEFQHLKTQ AEQLHNHLQP GR
	Isoform 2 (Short) [UniParc]. Checksum: 857BFA0FC9DFB6EA		268	30,803
	10 20 30 40 50 60 MGLVGTYSCF WTKYMNHLTV HNREVLYELI EKRGPATPLI TVSNHQSCMD DPHLWGILKL 70 80 90 100 110 120 RHIWNLKLMR WTPAAADICF TKELHSHFFS LGKCVPVCRG AEFFQAENEG KGVLDTGRHM 130 140 150 160 170 180 PGAGKRREKG DGVYQKGMDF ILEKLNHGDW VHIFPEGKVN MSSEFLRFKW GIGRLIAECH 190 200 210 220 230 240 LNPIILPLWH VGMNDVLPNS PPYFPRFGQK ITVLIGKPFS ALPVLERLRA ENKSAVEMRK 250 260 ALTDFIQEEF QHLKTQAEQL HNHLQPGR
	Isoform 3 (Del_exon_5) [UniParc]. Checksum: AE7F4EBF505C7F63		262	30,203
	10 20 30 40 50 60 MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTKYMN HLTVHNREVL YELIEKRGPA 70 80 90 100 110 120 TPLITVSNHQ SCMDDPHLWG ILKLRHIWNL KLMRWTPAAA DICFTKELHS HFFSLGKCVP 130 140 150 160 170 180 VCRGDGVYQK GMDFILEKLN HGDWVHIFPE GKVNMSSEFL RFKWGIGRLI AECHLNPIIL 190 200 210 220 230 240 PLWHVGMNDV LPNSPPYFPR FGQKITVLIG KPFSALPVLE RLRAENKSAV EMRKALTDFI 250 260 QEEFQHLKTQ AEQLHNHLQP GR
	Isoform 4 (Del_exon_6) [UniParc]. Checksum: E2FFF553E9576B5A		265	30,331
	10 20 30 40 50 60 MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTKYMN HLTVHNREVL YELIEKRGPA 70 80 90 100 110 120 TPLITVSNHQ SCMDDPHLWG ILKLRHIWNL KLMRWTPAAA DICFTKELHS HFFSLGKCVP 130 140 150 160 170 180 VCRGAEFFQA ENEGKGVLDT GRHMPGAGKR REKGKVNMSS EFLRFKWGIG RLIAECHLNP 190 200 210 220 230 240 IILPLWHVGM NDVLPNSPPY FPRFGQKITV LIGKPFSALP VLERLRAENK SAVEMRKALT 250 260 DFIQEEFQHL KTQAEQLHNH LQPGR
	Isoform 5 (Del_exon_7) [UniParc]. Checksum: 350624E72B677BE8		278	31,748
	10 20 30 40 50 60 MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTKYMN HLTVHNREVL YELIEKRGPA 70 80 90 100 110 120 TPLITVSNHQ SCMDDPHLWG ILKLRHIWNL KLMRWTPAAA DICFTKELHS HFFSLGKCVP 130 140 150 160 170 180 VCRGAEFFQA ENEGKGVLDT GRHMPGAGKR REKGDGVYQK GMDFILEKLN HGDWVHIFPE 190 200 210 220 230 240 GIGRLIAECH LNPIILPLWH VGMNDVLPNS PPYFPRFGQK ITVLIGKPFS ALPVLERLRA 250 260 270 ENKSAVEMRK ALTDFIQEEF QHLKTQAEQL HNHLQPGR
	Isoform 6 [UniParc]. Checksum: CA3073742FC132D0		254	29,092
	10 20 30 40 50 60 MGLVGTYSCF WTKYMNHLTV HNREVLYELI EKRGPATPLI TVSNHQSCMD DPHLWGILKL 70 80 90 100 110 120 RHIWNLKLMR WTPAAADICF TKELHSHFFS LGKCVPVCRG AEFFQAENEG KGVLDTGRHM 130 140 150 160 170 180 PGAGKRREKG DGVYQKGMDF ILEKLNHGDW VHIFPEGIGR LIAECHLNPI ILPLWHVGMN 190 200 210 220 230 240 DVLPNSPPYF PRFGQKITVL IGKPFSALPV LERLRAENKS AVEMRKALTD FIQEEFQHLK 250 TQAEQLHNHL QPGR
	Isoform 7 [UniParc]. Checksum: E23FAFFC359721CA		248	28,492
	10 20 30 40 50 60 MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTKYMN HLTVHNREVL YELIEKRGPA 70 80 90 100 110 120 TPLITVSNHQ SCMDDPHLWG ILKLRHIWNL KLMRWTPAAA DICFTKELHS HFFSLGKCVP 130 140 150 160 170 180 VCRGDGVYQK GMDFILEKLN HGDWVHIFPE GIGRLIAECH LNPIILPLWH VGMNDVLPNS 190 200 210 220 230 240 PPYFPRFGQK ITVLIGKPFS ALPVLERLRA ENKSAVEMRK ALTDFIQEEF QHLKTQAEQL HNHLQPGR
	Isoform 8 [UniParc]. Checksum: 53323D6698054515		238	27,547
	10 20 30 40 50 60 MGLVGTYSCF WTKYMNHLTV HNREVLYELI EKRGPATPLI TVSNHQSCMD DPHLWGILKL 70 80 90 100 110 120 RHIWNLKLMR WTPAAADICF TKELHSHFFS LGKCVPVCRG DGVYQKGMDF ILEKLNHGDW 130 140 150 160 170 180 VHIFPEGKVN MSSEFLRFKW GIGRLIAECH LNPIILPLWH VGMNDVLPNS PPYFPRFGQK 190 200 210 220 230 ITVLIGKPFS ALPVLERLRA ENKSAVEMRK ALTDFIQEEF QHLKTQAEQL HNHLQPGR
	Isoform 9 [UniParc]. Checksum: 94B5C890BB4DEAAC		224	25,836
	10 20 30 40 50 60 MGLVGTYSCF WTKYMNHLTV HNREVLYELI EKRGPATPLI TVSNHQSCMD DPHLWGILKL 70 80 90 100 110 120 RHIWNLKLMR WTPAAADICF TKELHSHFFS LGKCVPVCRG DGVYQKGMDF ILEKLNHGDW 130 140 150 160 170 180 VHIFPEGIGR LIAECHLNPI ILPLWHVGMN DVLPNSPPYF PRFGQKITVL IGKPFSALPV 190 200 210 220 LERLRAENKS AVEMRKALTD FIQEEFQHLK TQAEQLHNHL QPGR

References

[1]	"A novel X-linked gene, G4.5. is responsible for Barth syndrome." Bione S., D'Adamo P., Maestrini E., Gedeon A.K., Bolhuis P.A., Toniolo D. Nat. Genet. 12:385-389(1996) [PubMed: 8630491] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1). Tissue: Heart and Skeletal muscle.
[2]	"Identification and characterization of human tafazzins." Lu B., Gong Y., Hatch G.M., Choy P.C. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS 1; 2; 3; 5; 6; 7; 8 AND 9).
[3]	"Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism." Vaz F.M., Houtkooper R.H., Valianpour F., Barth P.G., Wanders R.J. J. Biol. Chem. 278:43089-43094(2003) [PubMed: 12930833] [Abstract] Cited for: FUNCTION IN CARDIOLIPIN METABOLISM.
[4]	"Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome." Bleyl S.B., Mumford B.R., Thompson V., Carey J.C., Pysher T.J., Chin T.K., Ward K. Am. J. Hum. Genet. 61:868-872(1997) [PubMed: 9382097] [Abstract] Cited for: VARIANT LVNCX ARG-197.
[5]	"Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome." Ichida F., Tsubata S., Bowles K.R., Haneda N., Uese K., Miyawaki T., Dreyer W.J., Messina J., Li H., Bowles N.E., Towbin J.A. Circulation 103:1256-1263(2001) [PubMed: 11238270] [Abstract] Cited for: VARIANT LVNCX ARG-118.
[6]	"Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome." Sakamoto O., Kitoh T., Ohura T., Ohya N., Iinuma K. J. Hum. Genet. 47:229-231(2002) [PubMed: 12032589] [Abstract] Cited for: VARIANT MGA2 SER-94.
+	Additional computationally mapped references.

Web resources

TAZbase

TAZ mutation db

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	X92763, X92764 Genomic DNA. Translation: CAA63419.1. X92762 mRNA. Translation: CAA63418.1. AY231461 mRNA. Translation: AAO84335.1. AY231462 mRNA. Translation: AAO84336.1. AY231463 mRNA. Translation: AAO84337.1. AY231464 mRNA. Translation: AAO84338.1. AY258036 mRNA. Translation: AAO84339.1. AY258037 mRNA. Translation: AAO84340.1. AY258038 mRNA. Translation: AAO84341.1. AY258039 mRNA. Translation: AAO84342.1.
RefSeq	NP_000107.1. NP_851828.1. NP_851829.1. NP_851830.1.
UniGene	Hs.409911
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q16635.
Genome annotation databases
Ensembl	ENSG00000102125. Homo sapiens. [Contig view]
GeneID	6901.
KEGG	hsa:6901.
Organism-specific databases
H-InvDB	HIX0017154.
HGNC	HGNC:11577. TAZ.
MIM	300183. phenotype. 300394. gene. 302060. phenotype.
Orphanet	111. Barth syndrome. 154. Cardiomyopathy, familial dilated. 54260. Left ventricular noncompaction.
PharmGKB	PA36341.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q16635.
HOVERGEN	Q16635.
Gene expression databases
ArrayExpress	Q16635.
CleanEx	HS_TAZ.
GermOnline	ENSG00000102125. Homo sapiens.
Family and domain databases
InterPro	IPR002123. Acyltransferase. IPR000872. Tafazzin. [Graphical view]
PANTHER	PTHR12497. Tafazzin. 1 hit.
Pfam	PF01553. Acyltransferase. 1 hit. [Graphical view]
PRINTS	PR00979. TAFAZZIN.
SMART	SM00563. PlsC. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	26979.
SOURCE	Search...

Entry information

Entry name

TAZ_HUMAN

Accession

Primary (citable) accession number: Q16635
Secondary accession number(s): Q86XQ6 , Q86XQ7, Q86XQ8, Q86XQ9, Q86XR0

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1996
Last modified:	November 25, 2008
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)