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Q16635

- TAZ_HUMAN

UniProt

Q16635 - TAZ_HUMAN

Protein

Tafazzin

Gene

TAZ

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1 – 3030Helical; Signal-anchorSequence AnalysisAdd
    BLAST

    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.Curated

    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. CuratedVSP_011609Add
    BLAST
    Alternative sequencei124 – 15330Missing in isoform 3, isoform 7, isoform 8 and isoform 9. CuratedVSP_004451Add
    BLAST
    Alternative sequencei154 – 18027Missing in isoform 4. CuratedVSP_004452Add
    BLAST
    Alternative sequencei181 – 19414Missing in isoform 5, isoform 6, isoform 7 and isoform 9. CuratedVSP_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

    EnsembliENST00000475699; ENSP00000419854; ENSG00000102125. [Q16635-4]
    ENST00000601016; ENSP00000469981; ENSG00000102125. [Q16635-1]
    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 ENST00000475699 ; ENSP00000419854 ; ENSG00000102125 . [Q16635-4 ]
    ENST00000601016 ; ENSP00000469981 ; ENSG00000102125 . [Q16635-1 ]
    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

    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: October 1, 2014
    This is version 131 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