TAT tyrosine aminotransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: TATprovided by HGNC
Official Full Name: tyrosine aminotransferaseprovided by HGNC
Primary source: HGNC:HGNC:11573
See related: Ensembl:ENSG00000198650 MIM:613018; AllianceGenome:HGNC:11573
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible cognitive disability. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward liver (RPKM 242.2) See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (71565660..71577092, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (77382852..77394286, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (71599563..71610995, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Most synonymous allelic variants in HIV tat are not silent.
Title: Most synonymous allelic variants in HIV tat are not silent.
Data analysis did not reveal a genotype-phenotype correlation, but stressed the need of early diagnosis: All patients improved the oculocutaneous lesions after dietary treatment but neurological symptoms prevailed. The discovery of founder mutations in isolated populations, and the benefits of early intervention, should increase diagnostic awareness in newborns.
Title: Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Sequencing of TAT indicated two new homozygous mutations p.L312P (c.935T>C) and p.T408M (c.1223C>T) for the proband and his asymptomatic sister.
Title: Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.
Two known mutations and one novel mutation was found in the TAT gene of Tunesian Richner-Hanhart syndrome patients. The geographical distribution of RHS mutations shows regional specificities.
Title: Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
A paternal inherited frameshift mutation c.1213delCinsAG at codon 405 causing a premature stop codon, and a maternally inherited deletion of 193kb encompassing the complete TAT gene yield the first complete TAT deletion in tyrosinaemia type II described.
Title: A large TAT deletion in a tyrosinaemia type II patient.
tumor suppressive mechanism of TAT was associated with its proapoptotic role in a mitochondrial-dependent manner by promoting cytochrome-c release and activating caspase-9 and PARP.
Title: Down-regulation of tyrosine aminotransferase at a frequently deleted region 16q22 contributes to the pathogenesis of hepatocellular carcinoma.
Genetically modified adenoviral vector with the protein transduction domain of Tat improves gene transfer to CAR-deficient cells.
Title: Genetically modified adenoviral vector with the protein transduction domain of Tat improves gene transfer to CAR-deficient cells.
a heterozygous insertion mutation (c.446_447insA; p.D149DfsX28) was found in exon 4 leading to a frameshift and finally resulting in a premature stop codon and a heterozygous missense mutation (c.658C>T; p.P220S) was identified in exon 5.
Title: Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.
two novel missense mutations were identified - (C151Y) and (L273P) within exon 5 and exon 8, respectively in tyrosinemia type II in three unrelated consanguinous Tunisian families
Title: Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.
a silent exonic transversion in TAT causes complete missplicing by exon 11 skipping in oculocutaneous tyrosinaemia type II
Title: TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Tyrosinemia type II MedGen: C0268487 OMIM: 276600 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:210937 (e-PCR)
- UniSTS:156160

SHGC-11957 (e-PCR)
- UniSTS:78872

G10523 (e-PCR)
- UniSTS:58690

SHGC-80760 (e-PCR)
- UniSTS:102290

MARC_7235-7236:996687672:1 (e-PCR)
- UniSTS:269743

NoName (e-PCR)
- UniSTS:492221

D11S3316 (e-PCR)
- UniSTS:152558

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-tyrosine:2-oxoglutarate aminotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-tyrosine:2-oxoglutarate aminotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-tyrosine:2-oxoglutarate aminotransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables amino acid binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in 2-oxoglutarate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in L-phenylalanine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-phenylalanine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glutamate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to dexamethasone	IEA Inferred from Electronic Annotation more info
involved_in response to mercury ion	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in tyrosine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tyrosine catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: tyrosine aminotransferase

Names: L-tyrosine:2-oxoglutarate aminotransferase; testis tissue sperm-binding protein Li 34a; tyrosine aminotransferase, cytosolic

NP_000344.1

EC 2.6.1.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008235.1 RefSeqGene

Range

5004..16436

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000353.3 → NP_000344.1 tyrosine aminotransferase

See identical proteins and their annotated locations for NP_000344.1

Status: REVIEWED

Source sequence(s)

AC010547

Consensus CDS

CCDS10903.1

UniProtKB/Swiss-Prot

B2R8I1, D3DWS2, P17735

UniProtKB/TrEMBL

A0A140VKB7, A1L4G7

Related

ENSP00000348234.4, ENST00000355962.5

Conserved Domains (3) summary

cd00609
Location:74 → 436

AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...

TIGR01264
Location:41 → 442

tyr_amTase_E; tyrosine aminotransferase, eukaryotic

pfam07706
Location:1 → 40

TAT_ubiq; Aminotransferase ubiquitination site