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Q16635

- TAZ_HUMAN

UniProt

Q16635 - TAZ_HUMAN

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Protein

Tafazzin

Gene
TAZ, EFE2, G4.5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Some isoforms may be involved in cardiolipin (CL) metabolism.2 Publications

GO - Molecular functioni

  1. 1-acylglycerophosphocholine O-acyltransferase activity Source: BHF-UCL

GO - Biological processi

  1. cardiac muscle contraction Source: BHF-UCL
  2. cardiac muscle tissue development Source: HGNC
  3. cardiolipin acyl-chain remodeling Source: Reactome
  4. cardiolipin biosynthetic process Source: UniProtKB
  5. cristae formation Source: HGNC
  6. glycerophospholipid biosynthetic process Source: Reactome
  7. heart development Source: HGNC
  8. hemopoiesis Source: HGNC
  9. mitochondrial ATP synthesis coupled electron transport Source: BHF-UCL
  10. mitochondrial respiratory chain complex I assembly Source: HGNC
  11. muscle contraction Source: HGNC
  12. phospholipid metabolic process Source: Reactome
  13. skeletal muscle tissue development Source: HGNC
  14. small molecule metabolic process Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_118595. Mitochondrial protein import.
REACT_121006. Acyl chain remodeling of CL.

Names & Taxonomyi

Protein namesi
Recommended name:
Tafazzin
Alternative name(s):
Protein G4.5
Gene namesi
Name:TAZ
Synonyms:EFE2, G4.5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:11577. TAZ.

Subcellular locationi

Isoform 2 : Cytoplasm Inferred
Isoform 6 : Cytoplasm Inferred
Isoform 8 : Cytoplasm Inferred
Isoform 9 : Cytoplasm Inferred

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1 – 3030Helical; Signal-anchor; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: Reactome
  3. mitochondrion Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

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.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941R → S in BTHS. 1 Publication
VAR_014110
Natural varianti118 – 1181C → R in BTHS. 1 Publication
VAR_014111
Natural varianti197 – 1971G → R in BTHS. 1 Publication
VAR_014112
Natural varianti240 – 2401G → R in BTHS. 1 Publication
VAR_068434

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi302060. phenotype.
Orphaneti111. Barth syndrome.
154. Familial isolated dilated cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBiPA36341.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 292292TafazzinPRO_0000220928Add
BLAST

Proteomic databases

MaxQBiQ16635.
PaxDbiQ16635.
PRIDEiQ16635.

PTM databases

PhosphoSiteiQ16635.

Expressioni

Tissue specificityi

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.

Gene expression databases

ArrayExpressiQ16635.
BgeeiQ16635.
CleanExiHS_TAZ.
GenevestigatoriQ16635.

Organism-specific databases

HPAiHPA039557.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
LATS1O958354EBI-723166,EBI-444209

Protein-protein interaction databases

BioGridi112764. 8 interactions.
IntActiQ16635. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ16635.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni124 – 19471HydrophilicAdd
BLAST

Domaini

The hydrophilic domain may serve as an exposed loop interacting with other proteins.

Sequence similaritiesi

Belongs to the taffazin family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG313544.
HOVERGENiHBG055923.
InParanoidiQ16635.
KOiK13511.
OMAiNNGDWVH.
PhylomeDBiQ16635.
TreeFamiTF313862.

Family and domain databases

InterProiIPR002123. Plipid/glycerol_acylTrfase.
IPR000872. Tafazzin.
[Graphical view]
PANTHERiPTHR12497. PTHR12497. 1 hit.
PfamiPF01553. Acyltransferase. 1 hit.
[Graphical view]
PRINTSiPR00979. TAFAZZIN.
SMARTiSM00563. PlsC. 1 hit.
[Graphical view]

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q16635-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTKYMN HLTVHNREVL    50
YELIEKRGPA TPLITVSNHQ SCMDDPHLWG ILKLRHIWNL KLMRWTPAAA 100
DICFTKELHS HFFSLGKCVP VCRGAEFFQA ENEGKGVLDT GRHMPGAGKR 150
REKGDGVYQK GMDFILEKLN HGDWVHIFPE GKVNMSSEFL RFKWGIGRLI 200
AECHLNPIIL PLWHVGMNDV LPNSPPYFPR FGQKITVLIG KPFSALPVLE 250
RLRAENKSAV EMRKALTDFI QEEFQHLKTQ AEQLHNHLQP GR 292
Length:292
Mass (Da):33,459
Last modified:November 1, 1996 - v1
Checksum:i2805E0962DC4FE52
GO
Isoform 2 (identifier: Q16635-2) [UniParc]FASTAAdd to Basket

Also known as: Short

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

Show »
Length:268
Mass (Da):30,803
Checksum:i857BFA0FC9DFB6EA
GO
Isoform 3 (identifier: Q16635-3) [UniParc]FASTAAdd to Basket

Also known as: Del_exon_5

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

Show »
Length:262
Mass (Da):30,203
Checksum:iAE7F4EBF505C7F63
GO
Isoform 4 (identifier: Q16635-4) [UniParc]FASTAAdd to Basket

Also known as: Del_exon_6

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

Show »
Length:265
Mass (Da):30,331
Checksum:iE2FFF553E9576B5A
GO
Isoform 5 (identifier: Q16635-5) [UniParc]FASTAAdd to Basket

Also known as: Del_exon_7

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

Show »
Length:278
Mass (Da):31,748
Checksum:i350624E72B677BE8
GO
Isoform 6 (identifier: Q16635-6) [UniParc]FASTAAdd to Basket

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

Show »
Length:254
Mass (Da):29,092
Checksum:iCA3073742FC132D0
GO
Isoform 7 (identifier: Q16635-7) [UniParc]FASTAAdd to Basket

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

Show »
Length:248
Mass (Da):28,492
Checksum:iE23FAFFC359721CA
GO
Isoform 8 (identifier: Q16635-8) [UniParc]FASTAAdd to Basket

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

Show »
Length:238
Mass (Da):27,547
Checksum:i53323D6698054515
GO
Isoform 9 (identifier: Q16635-9) [UniParc]FASTAAdd to Basket

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

Show »
Length:224
Mass (Da):25,836
Checksum:i94B5C890BB4DEAAC
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941R → S in BTHS. 1 Publication
VAR_014110
Natural varianti118 – 1181C → R in BTHS. 1 Publication
VAR_014111
Natural varianti197 – 1971G → R in BTHS. 1 Publication
VAR_014112
Natural varianti240 – 2401G → R in BTHS. 1 Publication
VAR_068434

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2424Missing in isoform 2, isoform 6, isoform 8 and isoform 9. VSP_011609Add
BLAST
Alternative sequencei124 – 15330Missing in isoform 3, isoform 7, isoform 8 and isoform 9. VSP_004451Add
BLAST
Alternative sequencei154 – 18027Missing in isoform 4. VSP_004452Add
BLAST
Alternative sequencei181 – 19414Missing in isoform 5, isoform 6, isoform 7 and isoform 9. VSP_004453Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS14748.1. [Q16635-1]
CCDS14749.1. [Q16635-3]
CCDS14750.1. [Q16635-5]
CCDS35450.1. [Q16635-7]
RefSeqiNP_000107.1. NM_000116.3. [Q16635-1]
NP_851828.1. NM_181311.2. [Q16635-3]
NP_851829.1. NM_181312.2. [Q16635-5]
NP_851830.1. NM_181313.2. [Q16635-7]
UniGeneiHs.409911.

Genome annotation databases

EnsembliENST00000299328; ENSP00000299328; ENSG00000102125. [Q16635-1]
ENST00000350743; ENSP00000338891; ENSG00000102125. [Q16635-3]
ENST00000351413; ENSP00000218246; ENSG00000102125. [Q16635-5]
ENST00000369790; ENSP00000358805; ENSG00000102125. [Q16635-7]
ENST00000475699; ENSP00000419854; ENSG00000102125. [Q16635-4]
GeneIDi6901.
KEGGihsa:6901.
UCSCiuc004fkx.3. human. [Q16635-1]
uc004fky.3. human. [Q16635-5]
uc004fla.3. human. [Q16635-3]
uc004flb.3. human. [Q16635-7]

Polymorphism databases

DMDMi2498992.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

TAZbase

TAZ mutation db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS14748.1. [Q16635-1 ]
CCDS14749.1. [Q16635-3 ]
CCDS14750.1. [Q16635-5 ]
CCDS35450.1. [Q16635-7 ]
RefSeqi NP_000107.1. NM_000116.3. [Q16635-1 ]
NP_851828.1. NM_181311.2. [Q16635-3 ]
NP_851829.1. NM_181312.2. [Q16635-5 ]
NP_851830.1. NM_181313.2. [Q16635-7 ]
UniGenei Hs.409911.

3D structure databases

ProteinModelPortali Q16635.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112764. 8 interactions.
IntActi Q16635. 2 interactions.

PTM databases

PhosphoSitei Q16635.

Polymorphism databases

DMDMi 2498992.

Proteomic databases

MaxQBi Q16635.
PaxDbi Q16635.
PRIDEi Q16635.

Protocols and materials databases

DNASUi 6901.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299328 ; ENSP00000299328 ; ENSG00000102125 . [Q16635-1 ]
ENST00000350743 ; ENSP00000338891 ; ENSG00000102125 . [Q16635-3 ]
ENST00000351413 ; ENSP00000218246 ; ENSG00000102125 . [Q16635-5 ]
ENST00000369790 ; ENSP00000358805 ; ENSG00000102125 . [Q16635-7 ]
ENST00000475699 ; ENSP00000419854 ; ENSG00000102125 . [Q16635-4 ]
GeneIDi 6901.
KEGGi hsa:6901.
UCSCi uc004fkx.3. human. [Q16635-1 ]
uc004fky.3. human. [Q16635-5 ]
uc004fla.3. human. [Q16635-3 ]
uc004flb.3. human. [Q16635-7 ]

Organism-specific databases

CTDi 6901.
GeneCardsi GC0XP153639.
GeneReviewsi TAZ.
HGNCi HGNC:11577. TAZ.
HPAi HPA039557.
MIMi 300394. gene.
302060. phenotype.
neXtProti NX_Q16635.
Orphaneti 111. Barth syndrome.
154. Familial isolated dilated cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBi PA36341.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG313544.
HOVERGENi HBG055923.
InParanoidi Q16635.
KOi K13511.
OMAi NNGDWVH.
PhylomeDBi Q16635.
TreeFami TF313862.

Enzyme and pathway databases

Reactomei REACT_118595. Mitochondrial protein import.
REACT_121006. Acyl chain remodeling of CL.

Miscellaneous databases

ChiTaRSi TAZ. human.
GeneWikii Tafazzin.
GenomeRNAii 6901.
NextBioi 26979.
PROi Q16635.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q16635.
Bgeei Q16635.
CleanExi HS_TAZ.
Genevestigatori Q16635.

Family and domain databases

InterProi IPR002123. Plipid/glycerol_acylTrfase.
IPR000872. Tafazzin.
[Graphical view ]
PANTHERi PTHR12497. PTHR12497. 1 hit.
Pfami PF01553. Acyltransferase. 1 hit.
[Graphical view ]
PRINTSi PR00979. TAFAZZIN.
SMARTi SM00563. PlsC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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.

Entry informationi

Entry nameiTAZ_HUMAN
AccessioniPrimary (citable) accession number: Q16635
Secondary accession number(s): A3KQT2
, D3DWX2, Q5HY43, Q5HY44, Q5HY45, Q5HY48, Q86XQ6, Q86XQ7, Q86XQ8, Q86XQ9, Q86XR0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: September 3, 2014
This is version 130 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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