Q16635 (TAZ_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 107.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Tafazzin Alternative name(s): Protein G4.5 | ||||
| Gene names |
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| 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. |
| 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. |
| 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]; also known as Barth syndrome. MGA2 is a severe metabolic disorder, often fatal in childhood, characterized by dilated cardiomyopathy, skeletal myopathy, short stature, neutropenia and 3-methylglutaconicaciduria. Ref.10 Defects in TAZ are the cause of left ventricular non-compaction 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. Ref.8 Ref.9 |
| Sequence similarities | Belongs to the taffazin family. |
Ontologies
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 MGA2. Ref.10 | VAR_014110 | |||||
| Natural variant | 118 | 1 | C → R in LVNCX. Ref.9 | VAR_014111 | |||||
| Natural variant | 197 | 1 | G → R in LVNCX. Ref.8 | VAR_014112 | |||||
Sequences
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References
| « Hide '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: 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] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [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. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [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. 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: 12930833] [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: 19164547] [Abstract] Cited for: FUNCTION. |
| [8] | "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. |
| [9] | "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. |
| [10] | "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. |
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. |
| STRING | Q16635. |
Polymorphism databases | |
| DMDM | 2498992. |
Proteomic databases | |
| PRIDE | Q16635. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000299328; ENSP00000299328; ENSG00000102125. |
| GeneID | 6901. |
| KEGG | hsa:6901. |
| UCSC | uc004fkx.1. human. uc004fky.1. human. uc004fla.1. human. uc004flb.1. human. |
Organism-specific databases | |
| CTD | 6901. |
| GeneCards | GC0XP153639. |
| H-InvDB | HIX0017154. |
| HGNC | HGNC:11577. TAZ. |
| HPA | HPA039557. |
| MIM | 300183. phenotype. 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 | prNOG05808. |
| HOVERGEN | HBG055923. |
| InParanoid | Q16635. |
| PhylomeDB | Q16635. |
Gene expression databases | |
| ArrayExpress | Q16635. |
| Bgee | Q16635. |
| CleanEx | HS_TAZ. |
| Genevestigator | Q16635. |
| GermOnline | ENSG00000102125. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002123. Acyltransferase. IPR000872. Tafazzin. [Graphical view] |
| KO | K13511. |
| 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 | |
| NextBio | 26979. |
| SOURCE | Search... |
Entry information
| Entry name | TAZ_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q16635 Secondary accession number(s): A3KQT2 Q86XR0 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with