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UniProtKB - Q16635 (TAZ_HUMAN)

Entry version 165 (05 Jun 2019)
Sequence version 1 (01 Nov 1996)
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Protein

Tafazzin

Gene

TAZ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1268020 Mitochondrial protein import
R-HSA-1482798 Acyl chain remodeling of CL

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tafazzin
Alternative name(s):
Protein G4.5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TAZ
Synonyms:EFE2, G4.5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11577 TAZ

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300394 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q16635

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1 – 30Helical; Signal-anchorSequence analysisAdd BLAST30

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Barth syndrome (BTHS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01411094R → S in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894942EnsemblClinVar.1
Natural variantiVAR_014111118C → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894937EnsemblClinVar.1
Natural variantiVAR_014112197G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs132630277EnsemblClinVar.1
Natural variantiVAR_068434240G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs387907218EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		6901

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		TAZ

MalaCards human disease database

More...MalaCardsi		TAZ
MIMi302060 phenotype

Open Targets

More...OpenTargetsi		ENSG00000102125

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		111 Barth syndrome
154 Familial isolated dilated cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36341

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TAZ

Domain mapping of disease mutations (DMDM)

More...DMDMi		2498992

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002209281 – 292TafazzinAdd BLAST292

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q16635

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q16635

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q16635

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q16635

PeptideAtlas

More...PeptideAtlasi		Q16635

PRoteomics IDEntifications database

More...PRIDEi		Q16635

ProteomicsDB human proteome resource

More...ProteomicsDBi		60983
60984 [Q16635-2]
60985 [Q16635-3]
60986 [Q16635-4]
60987 [Q16635-5]
60988 [Q16635-6]
60989 [Q16635-7]
60990 [Q16635-8]
60991 [Q16635-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q16635

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q16635

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000102125 Expressed in 177 organ(s), highest expression level in small intestine Peyer's patch

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q16635 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q16635 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA039557

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112764, 137 interactors

Protein interaction database and analysis system

More...IntActi		Q16635, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000469981

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni124 – 194HydrophilicAdd BLAST71

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the taffazin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2847 Eukaryota
ENOG410XT5T LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018621

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q16635

KEGG Orthology (KO)

More...KOi		K13511

Identification of Orthologs from Complete Genome Data

More...OMAi		VYNKHII

Database of Orthologous Groups

More...OrthoDBi		614199at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q16635

TreeFam database of animal gene trees

More...TreeFami		TF313862

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002123 Plipid/glycerol_acylTrfase
IPR000872 Tafazzin

The PANTHER Classification System

More...PANTHERi		PTHR12497 PTHR12497, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01553 Acyltransferase, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00979 TAFAZZIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00563 PlsC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (9+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 9 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 9 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTKYMN HLTVHNREVL 
        60         70         80         90        100
YELIEKRGPA TPLITVSNHQ SCMDDPHLWG ILKLRHIWNL KLMRWTPAAA 
       110        120        130        140        150
DICFTKELHS HFFSLGKCVP VCRGAEFFQA ENEGKGVLDT GRHMPGAGKR 
       160        170        180        190        200
REKGDGVYQK GMDFILEKLN HGDWVHIFPE GKVNMSSEFL RFKWGIGRLI 
       210        220        230        240        250
AECHLNPIIL PLWHVGMNDV LPNSPPYFPR FGQKITVLIG KPFSALPVLE 
       260        270        280        290 
RLRAENKSAV EMRKALTDFI QEEFQHLKTQ AEQLHNHLQP GR
Length:292
Mass (Da):33,459
Last modified:November 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J699C9J699_HUMAN
Tafazzin family protein
TAZ
184Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WWD5A0A087WWD5_HUMAN
Tafazzin family protein
TAZ
95Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A6XNE1A6XNE1_HUMAN
Tafazzin family protein
TAZ
296Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F6Y2X3F6Y2X3_HUMAN
Tafazzin family protein
TAZ
262Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WYT1A0A087WYT1_HUMAN
Tafazzin family protein
TAZ
196Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2I9H7C2I9_HUMAN
Tafazzin family protein
TAZ
34Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C1C6A0A494C1C6_HUMAN
Tafazzin
TAZ
31Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C1B0A0A494C1B0_HUMAN
Tafazzin
TAZ
31Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C004A0A494C004_HUMAN
Tafazzin
TAZ
311Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C0D2A0A494C0D2_HUMAN
Tafazzin
TAZ
163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01411094R → S in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894942EnsemblClinVar.1
Natural variantiVAR_014111118C → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs104894937EnsemblClinVar.1
Natural variantiVAR_014112197G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs132630277EnsemblClinVar.1
Natural variantiVAR_068434240G → R in BTHS. 1 PublicationCorresponds to variant dbSNP:rs387907218EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0116091 – 24Missing in isoform 2, isoform 6, isoform 8 and isoform 9. CuratedAdd BLAST24
Alternative sequenceiVSP_004451124 – 153Missing in isoform 3, isoform 7, isoform 8 and isoform 9. CuratedAdd BLAST30
Alternative sequenceiVSP_004452154 – 180Missing in isoform 4. CuratedAdd BLAST27
Alternative sequenceiVSP_004453181 – 194Missing in isoform 5, isoform 6, isoform 7 and isoform 9. CuratedAdd BLAST14

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14748.1 [Q16635-1]
CCDS14749.1 [Q16635-3]
CCDS14750.1 [Q16635-5]
CCDS35450.1 [Q16635-7]

NCBI Reference Sequences

More...RefSeqi		NP_000107.1, NM_000116.4 [Q16635-1]
NP_001290394.1, NM_001303465.1
NP_851828.1, NM_181311.3 [Q16635-3]
NP_851829.1, NM_181312.3 [Q16635-5]
NP_851830.1, NM_181313.3 [Q16635-7]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000601016; ENSP00000469981; ENSG00000102125 [Q16635-1]
ENST00000612012; ENSP00000482070; ENSG00000102125 [Q16635-5]
ENST00000612460; ENSP00000481037; ENSG00000102125 [Q16635-3]
ENST00000613002; ENSP00000478154; ENSG00000102125 [Q16635-7]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6901

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6901

UCSC genome browser

More...UCSCi		uc033fbm.2 human [Q16635-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

TAZbase

TAZ mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_000116.4 [Q16635-1]
NP_001290394.1, NM_001303465.1
NP_851828.1, NM_181311.3 [Q16635-3]
NP_851829.1, NM_181312.3 [Q16635-5]
NP_851830.1, NM_181313.3 [Q16635-7]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi112764, 137 interactors
IntActiQ16635, 3 interactors
STRINGi9606.ENSP00000469981

PTM databases

iPTMnetiQ16635
PhosphoSitePlusiQ16635

Polymorphism and mutation databases

BioMutaiTAZ
DMDMi2498992

Proteomic databases

EPDiQ16635
jPOSTiQ16635
MaxQBiQ16635
PaxDbiQ16635
PeptideAtlasiQ16635
PRIDEiQ16635
ProteomicsDBi60983
60984 [Q16635-2]
60985 [Q16635-3]
60986 [Q16635-4]
60987 [Q16635-5]
60988 [Q16635-6]
60989 [Q16635-7]
60990 [Q16635-8]
60991 [Q16635-9]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		6901
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000601016; ENSP00000469981; ENSG00000102125 [Q16635-1]
ENST00000612012; ENSP00000482070; ENSG00000102125 [Q16635-5]
ENST00000612460; ENSP00000481037; ENSG00000102125 [Q16635-3]
ENST00000613002; ENSP00000478154; ENSG00000102125 [Q16635-7]
GeneIDi6901
KEGGihsa:6901
UCSCiuc033fbm.2 human [Q16635-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6901
DisGeNETi6901

GeneCards: human genes, protein and diseases

More...GeneCardsi		TAZ
GeneReviewsiTAZ
HGNCiHGNC:11577 TAZ
HPAiHPA039557
MalaCardsiTAZ
MIMi300394 gene
302060 phenotype
neXtProtiNX_Q16635
OpenTargetsiENSG00000102125
Orphaneti111 Barth syndrome
154 Familial isolated dilated cardiomyopathy
PharmGKBiPA36341

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2847 Eukaryota
ENOG410XT5T LUCA
GeneTreeiENSGT00390000018621
InParanoidiQ16635
KOiK13511
OMAiVYNKHII
OrthoDBi614199at2759
PhylomeDBiQ16635
TreeFamiTF313862

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import
R-HSA-1482798 Acyl chain remodeling of CL

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TAZ human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Tafazzin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6901

Protein Ontology

More...PROi		PR:Q16635

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000102125 Expressed in 177 organ(s), highest expression level in small intestine Peyer's patch
ExpressionAtlasiQ16635 baseline and differential
GenevisibleiQ16635 HS

Family and domain databases

InterProiView protein in InterPro
IPR002123 Plipid/glycerol_acylTrfase
IPR000872 Tafazzin
PANTHERiPTHR12497 PTHR12497, 1 hit
PfamiView protein in Pfam
PF01553 Acyltransferase, 1 hit
PRINTSiPR00979 TAFAZZIN
SMARTiView protein in SMART
SM00563 PlsC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTAZ_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q16635
Secondary accession number(s): A3KQT2
, D3DWX2, Q5HY43, Q5HY44, Q5HY45, Q5HY48, Q86XQ6, Q86XQ7, Q86XQ8, Q86XQ9, Q86XR0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: June 5, 2019
This is version 165 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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