Q16635 (TAZ_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	292 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Some isoforms may be involved in cardiolipin (CL) metabolism. Ref.6 Ref.7
Subcellular location	Isoform 1: Membrane; Single-pass membrane protein. Isoform 2: Cytoplasm Probable. Isoform 3: Membrane; Single-pass membrane protein. Isoform 4: Membrane; Single-pass membrane protein. Isoform 5: Membrane; Single-pass membrane protein. Isoform 6: Cytoplasm Probable. Isoform 7: Membrane; Single-pass membrane protein. Isoform 8: Cytoplasm Probable. Isoform 9: Cytoplasm Probable.
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	Barth syndrome (BTHS) [MIM:302060]: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non-compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9 Ref.10 Ref.11
Sequence similarities	Belongs to the taffazin family.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Alternative splicing
Disease	Cardiomyopathy Disease mutation
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cardiac muscle contraction Inferred from mutant phenotype PubMed 17043667. Source: BHF-UCL cardiac muscle tissue development Inferred from mutant phenotype PubMed 17043667. Source: HGNC cardiolipin acyl-chain remodeling Traceable author statement. Source: Reactome cardiolipin biosynthetic process Inferred from mutant phenotype Ref.7. Source: UniProtKB cristae formation Inferred from mutant phenotype PubMed 17043667. Source: HGNC hemopoiesis Inferred from mutant phenotype PubMed 17043667. Source: HGNC mitochondrial ATP synthesis coupled electron transport Inferred from direct assay PubMed 15304507. Source: BHF-UCL mitochondrial respiratory chain complex I assembly Inferred from mutant phenotype PubMed 16857210. Source: HGNC skeletal muscle tissue development Inferred from mutant phenotype PubMed 17043667. Source: HGNC small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane Traceable author statement. Source: Reactome plasma membrane Inferred from direct assay. Source: HPA
Molecular_function	1-acylglycerophosphocholine O-acyltransferase activity Inferred from direct assay Ref.6. Source: BHF-UCL
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
LATS1	O95835	4	EBI-723166,EBI-444209

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	Helical; Signal-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 BTHS. Ref.11		VAR_014110
	Natural variant	118	1	C → R in BTHS. Ref.10		VAR_014111
	Natural variant	197	1	G → R in BTHS. Ref.9		VAR_014112
	Natural variant	240	1	G → R in BTHS. Ref.8		VAR_068434

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	FASTA	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	FASTA	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	FASTA	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	FASTA	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	FASTA	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	FASTA	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	FASTA	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	FASTA	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

	« Hide 'large scale' referencesShow 'large scale' 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] [Europe PMC] [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]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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] [Europe PMC] [Abstract] Cited for: FUNCTION IN CARDIOLIPIN METABOLISM.
[7]	"Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome." Malhotra A., Edelman-Novemsky I., Xu Y., Plesken H., Ma J., Schlame M., Ren M. Proc. Natl. Acad. Sci. U.S.A. 106:2337-2341(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[8]	"The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies." D'Adamo P., Fassone L., Gedeon A., Janssen E.A., Bione S., Bolhuis P.A., Barth P.G., Wilson M., Haan E., Orstavik K.H., Patton M.A., Green A.J., Zammarchi E., Donati M.A., Toniolo D. Am. J. Hum. Genet. 61:862-867(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BTHS ARG-240.
[9]	"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] [Europe PMC] [Abstract] Cited for: VARIANT BTHS ARG-197.
[10]	"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] [Europe PMC] [Abstract] Cited for: VARIANT BTHS ARG-118.
[11]	"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] [Europe PMC] [Abstract] Cited for: VARIANT BTHS SER-94.

Web resources

TAZbase

TAZ mutation db

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. AK291848 mRNA. Translation: BAF84537.1. BX936347 Genomic DNA. Translation: CAI43207.1. BX936347 Genomic DNA. Translation: CAI43208.1. BX936347 Genomic DNA. Translation: CAI43209.1. BX936347 Genomic DNA. Translation: CAI43211.1. BX936347 Genomic DNA. Translation: CAM45851.1. CH471172 Genomic DNA. Translation: EAW72720.1. CH471172 Genomic DNA. Translation: EAW72728.1.
IPI	IPI00329274. IPI00329788. IPI00329790. IPI00446998. IPI00470369. IPI00470561. IPI00470562. IPI00470564. IPI00470566.
RefSeq	NP_000107.1. NM_000116.3. NP_851828.1. NM_181311.2. NP_851829.1. NM_181312.2. NP_851830.1. NM_181313.2.
UniGene	Hs.409911.
3D structure databases
ProteinModelPortal	Q16635.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q16635. 1 interaction.
PTM databases
PhosphoSite	Q16635.
Polymorphism databases
DMDM	2498992.
Proteomic databases
PaxDb	Q16635.
PRIDE	Q16635.
Protocols and materials databases
DNASU	6901.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000299328; ENSP00000299328; ENSG00000102125. ENST00000350743; ENSP00000338891; ENSG00000102125. ENST00000351413; ENSP00000218246; ENSG00000102125. ENST00000369790; ENSP00000358805; ENSG00000102125. ENST00000475699; ENSP00000419854; ENSG00000102125.
GeneID	6901.
KEGG	hsa:6901.
UCSC	uc004fkx.3. human. uc004fky.3. human. uc004fla.3. human. uc004flb.3. human.
Organism-specific databases
CTD	6901.
GeneCards	GC0XP153639.
HGNC	HGNC:11577. TAZ.
HPA	HPA039557.
MIM	300394. gene. 302060. phenotype.
neXtProt	NX_Q16635.
Orphanet	111. Barth syndrome. 154. Familial isolated dilated cardiomyopathy. 54260. Left ventricular noncompaction.
PharmGKB	PA36341.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG313544.
HOVERGEN	HBG055923.
InParanoid	Q16635.
KO	K13511.
OMA	NNGDWVH.
PhylomeDB	Q16635.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q16635.
Bgee	Q16635.
CleanEx	HS_TAZ.
Genevestigator	Q16635.
GermOnline	ENSG00000102125. Homo sapiens.
Family and domain databases
InterPro	IPR002123. Plipid/glycerol_acylTrfase. IPR000872. Tafazzin. [Graphical view]
PANTHER	PTHR12497. PTHR12497. 1 hit.
Pfam	PF01553. Acyltransferase. 1 hit. [Graphical view]
PRINTS	PR00979. TAFAZZIN.
SMART	SM00563. PlsC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TAZ. human.
GenomeRNAi	6901.
NextBio	26979.
SOURCE	Search...

Entry information

Entry name

TAZ_HUMAN

Accession

Primary (citable) accession number: Q16635
Secondary accession number(s): A3KQT2 , D3DWX2, Q5HY43, Q5HY44, Q5HY45, Q5HY48, Q86XQ6, Q86XQ7, Q86XQ8, Q86XQ9, Q86XR0

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1996
Last modified:	May 1, 2013
This is version 120 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.