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Reviewed, UniProtKB/Swiss-Prot Q16635 (TAZ_HUMAN)

Last modified November 25, 2008. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Tafazzin
Alternative name(s):
    Protein G4.5
Gene names
Name: TAZ
Synonyms: EFE2, G4.5
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length292 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 292292Tafazzin
PRO_0000220928

Regions

Transmembrane1 – 3030Membrane anchor Potential
Region124 – 19471Hydrophilic

Natural variations

Alternative sequence1 – 2424Missing in isoform 2, isoform 6, isoform 8 and isoform 9.
VSP_011609
Alternative sequence124 – 15330Missing in isoform 3, isoform 7, isoform 8 and isoform 9.
VSP_004451
Alternative sequence154 – 18027Missing in isoform 4.
VSP_004452
Alternative sequence181 – 19414Missing in isoform 5, isoform 6, isoform 7 and isoform 9.
VSP_004453
Natural variant941R → S in MGA2.
VAR_014110
Natural variant1181C → R in INVM.
VAR_014111
Natural variant1971G → R in INVM.
VAR_014112

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 2805E0962DC4FE52

FASTA29233,459
        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 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: 857BFA0FC9DFB6EA
Show »

26830,803
Isoform 3 (Del_exon_5) [UniParc].

Checksum: AE7F4EBF505C7F63
Show »

26230,203
Isoform 4 (Del_exon_6) [UniParc].

Checksum: E2FFF553E9576B5A
Show »

26530,331
Isoform 5 (Del_exon_7) [UniParc].

Checksum: 350624E72B677BE8
Show »

27831,748
Isoform 6 [UniParc].

Checksum: CA3073742FC132D0
Show »

25429,092
Isoform 7 [UniParc].

Checksum: E23FAFFC359721CA
Show »

24828,492
Isoform 8 [UniParc].

Checksum: 53323D6698054515
Show »

23827,547
Isoform 9 [UniParc].

Checksum: 94B5C890BB4DEAAC
Show »

22425,836

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

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.
RefSeqNP_000107.1.
NP_851828.1.
NP_851829.1.
NP_851830.1.
UniGeneHs.409911

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActQ16635.

Genome annotation databases

EnsemblENSG00000102125. Homo sapiens. [Contig view]
GeneID6901.
KEGGhsa:6901.

Organism-specific databases

H-InvDBHIX0017154.
HGNCHGNC:11577. TAZ.
MIM300183. phenotype.
300394. gene.
302060. phenotype.
Orphanet111. Barth syndrome.
154. Cardiomyopathy, familial dilated.
54260. Left ventricular noncompaction.
PharmGKBPA36341.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ16635.
HOVERGENQ16635.

Gene expression databases

ArrayExpressQ16635.
CleanExHS_TAZ.
GermOnlineENSG00000102125. Homo sapiens.

Family and domain databases

InterProIPR002123. Acyltransferase.
IPR000872. Tafazzin.
[Graphical view]
PANTHERPTHR12497. Tafazzin. 1 hit.
PfamPF01553. Acyltransferase. 1 hit.
[Graphical view]
PRINTSPR00979. TAFAZZIN.
SMARTSM00563. PlsC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio26979.
SOURCESearch...

Entry information

Entry nameTAZ_HUMAN
AccessionPrimary (citable) accession number: Q16635
Secondary accession number(s): Q86XQ6 expand/collapse secondary AC list , 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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents