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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TAT Gene

protein-coding GIFtS: 63
GCID: GC16M071599

tyrosine aminotransferase

Explore 83 diseases affiliated with
TAT via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tyrosine Aminotransferase¹ ²
L-Tyrosine:2-Oxoglutarate Aminotransferase² ³
EC 2.6.1.5³ ⁸
Tyrosine Aminotransferase, Cytosolic²

External Ids:	HGNC: 11573¹	Entrez Gene: 6898²	Ensembl: ENSG00000198650⁷	OMIM: 613018⁵	UniProtKB: P17735³

Export aliases for TAT gene to outside databases

Previous GC identifers: GC16M062492 GC16M072323 GC16M071336 GC16M071376 GC16M070158 GC16M057368

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TAT:

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 mental retardation.

A regulator gene for tyrosine aminotransferase is X-linked. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735

Function: Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the

reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and

transaminase activity towards phenylalanine

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TAT gene promoter:
TBP Sp1 AP-1 ATF-2 YY1 E2F c-Jun ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TAT promoter sequence

Search SABiosciences Chromatin IP Primers for TAT

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TAT

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1 Ensembl cytogenetic band: 16q22.2 HGNC cytogenetic band: 16q22.1

TAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TAT gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M071599: view genomic region (about GC identifiers)

Start:	71,599,563 bp from pter	End:	71,611,033 bp from pter
Size:	11,471 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735 (See protein sequence)

Recommended Name: Tyrosine aminotransferase

Size: 454 amino acids; 50399 Da

Cofactor: Pyridoxal phosphate

Subunit: Homodimer (Probable)

1 PDB 3D structure from and Proteopedia for TAT:

3DYD (3D)

Secondary accessions: B2R8I1 D3DWS2

Explore the universe of human proteins at neXtProt for TAT: NX_P17735

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P17735

4/5 DME Specific Peptides for TAT (P17735) (see all 5)

KLSQRILGPCT

VPILSCGGLAKRWLVPGWR

GWILIHDRRDIFGNEIRDGL

PSGAMYLMVGIEMEHFPEFENDVEFTE

TAT Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000344.1

ENSEMBL proteins:

ENSP00000348234

Reactome Protein details: P17735
Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TAT

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005739	mitochondrion	IEA	--
GO:0005829	cytosol	TAS	--

TAT for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TAT

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TAT for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR004839 Aminotransferase_I/II

IPR015424 PyrdxlP-dep_Trfase

IPR021178 Tyrosine_transaminase

IPR004838 NHTrfase_class1_PyrdxlP-BS

IPR005958 TyrNic_aminoTrfase

Graphical View of Domain Structure for InterPro Entry P17735

ProtoNet protein and cluster: P17735

2 Blocks protein families:

IPB004839 Aminotransferase

IPB011715 Tyrosine aminotransferase ubiquitination region

UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735

Similarity: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735

Function: Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the

reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and

transaminase activity towards phenylalanine

Catalytic activity: L-tyrosine + 2-oxoglutarate = 4-hydroxyphenylpyruvate + L-glutamate

Genatlas biochemistry entry for TAT:

tyrosine aminotransferase,catalyzing the first step of tyrosine catabolism

Enzyme Number (IUBMB): EC 2.6.1.5¹ ²

miRNA Products:		OriGene 3'-UTR Clone: TAT Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TAT
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate TAT (see all 28):
		hsa-miR-125a-5p hsa-miR-16-2* hsa-miR-202 hsa-miR-938 hsa-miR-3653 hsa-miR-578 hsa-miR-3658 hsa-miR-3150b-3p

		SwitchGear 3'UTR luciferase reporter plasmid: TAT 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAT

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004838	L-tyrosine:2-oxoglutarate aminotransferase activity	TAS	--
GO:0016597	amino acid binding	IEA	--
GO:0030170	pyridoxal phosphate binding	IEA	--
GO:0080130	L-phenylalanine:2-oxoglutarate aminotransferase activity	IEA	--

TAT for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

tyrosine degradation I

	tyrosine degradation I	1.00			4-hydroxybenzoate biosynthesis	0.20
	Phenylalanine and tyrosine catabolism	0.56			4-hydroxyphenylpyruvate biosynthesis	0.20

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Tyrosine metabolism

Tyrosine metabolism

1.00

Phenylalanine metabolism

0.35

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

FOXA2 and FOXA3 transcription factor networks

FOXA2 and FOXA3 transcription factor networks

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

4 BioSystems Pathways for TAT

	FOXA2 and FOXA3 transcription factor networks
	4-hydroxybenzoate biosynthesis
	tyrosine degradation I
	4-hydroxyphenylpyruvate biosynthesis

3 Reactome Pathways for TAT

	Phenylalanine and tyrosine catabolism
	Metabolism
	Metabolism of amino acids and derivatives

5/6 Kegg Pathways (Kegg details for TAT) (see all 6):

	Ubiquinone and other terpenoid-quinone biosynthesis
	Cysteine and methionine metabolism
	Tyrosine metabolism
	Phenylalanine metabolism
	Phenylalanine, tyrosine and tryptophan biosynthesis

UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735

Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 2/6

TAT for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TAT

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/38 Interacting proteins for TAT (P17735³ ENSP00000348234⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 38)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMARCB1	Q12824³, ENSP00000263121⁴	I2D: score=6 STRING: ENSP00000263121
CCNT1	O60563³, ENSP00000261900⁴	I2D: score=1 STRING: ENSP00000261900
MDFIC	Q9P1T7³, ENSP00000257724⁴	I2D: score=1 STRING: ENSP00000257724
NCOA2	Q15596³, ENSP00000399968⁴	I2D: score=1 STRING: ENSP00000399968
SMARCA2	P51531³, ENSP00000265773⁴	I2D: score=1 STRING: ENSP00000265773

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006103	2-oxoglutarate metabolic process	IDA	7999802
GO:0006520	cellular amino acid metabolic process	--	--
GO:0006536	glutamate metabolic process	IDA	7999802
GO:0006559	L-phenylalanine catabolic process	TAS	--
GO:0006572	tyrosine catabolic process	NAS	--

TAT for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TAT for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TAT

10 HMDB Compounds for TAT About this table

Compound	Synonyms	CAS #	PubMed Ids
2-Oxo-4-methylthiobutanoic acid	2-Oxo-4-methylthiobutanoate (see all 17)	583-92-6	--
4-Hydroxyphenylpyruvic acid	(p-Hydroxyphenyl)pyruvate (see all 25)	156-39-8	--
Famotidine	Amfamox (see all 83)	76824-35-6	--
L-Glutamic acid	(2S)-2-Aminopentanedioate (see all 49)	56-86-0	--
L-Methionine	(2S)-2-amino-4-(methylsulfanyl)butanoic acid (see all 54)	63-68-3	--
L-Phenylalanine	(-)-beta-Phenylalanine (see all 28)	63-91-2	--
L-Tyrosine	(-)-a-Amino-p-hydroxyhydrocinnamate (see all 28)	60-18-4	--
Oxoglutaric acid	2-Ketoglutarate (see all 9)	328-50-7	--
Phenylpyruvic acid	2-Oxo-3-phenylpropanoate (see all 16)	156-06-9	--
Pyridoxal 5'-phosphate	Apolon B6 (see all 27)	54-47-7	--

4 DrugBank Compounds for TAT About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Pyridoxal Phosphate	Codecarboxylase (see all 9)	54-47-7	target	cofactor	16902803 12441383 12798391 16570355 16466641
L-Phenylalanine	(S)-alpha-Amino-beta-phenylpropionic acid (see all 4)	63-91-2	target	--	2890101 16666560 11299302 9356140
L-Glutamic Acid	(2S)-2-Aminopentanedioic acid (see all 15)	56-86-0	target	--	16840830
L-Tyrosine	2-Amino-3-(p-hydroxyphenyl)propionic acid (see all 3)	60-18-4	target	--	17389761

10/104 Novoseek chemical compound relationships for TAT gene (see all 104) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
argininamide	81.9	6	10780483 (1), 15273324 (1), 17150503 (1), 12475232 (1) (see all 5)
polytar	78.1	4	7584083 (1), 2039768 (1)
pnu 145156e	70.8	3	9840289 (2)
st-pc	58.5	3	17266559 (2), 10544137 (1)
tat-1	57.9	4	1548750 (2), 10364329 (2)
neamine	56.6	1	10747964 (1)
5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole	56.3	4	10757782 (1), 1756726 (1), 20370601 (1)
tyrosine	55.1	217	8100416 (4), 7988415 (4), 1967940 (3), 1359707 (3) (see all 99)
4-thiouracil	52.3	1	8639596 (1)
flavopiridol	46.6	2	10906320 (1), 20370601 (1)

Search CenterWatch for drugs/clinical trials and news about TAT / ATTY

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TAT gene:

NM_000353.2

Unigene Cluster for TAT:

Tyrosine aminotransferase

Hs.161640 [show with all ESTs]

Unigene Representative Sequence: NM_000353

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000355962(uc002fap.2) ENST00000564007 ENST00000566094(uc002faq.3)

ENST00000566010(uc002far.3)

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		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate TAT (see all 28):
		hsa-miR-125a-5p hsa-miR-16-2* hsa-miR-202 hsa-miR-938 hsa-miR-3653 hsa-miR-578 hsa-miR-3658 hsa-miR-3150b-3p

		SwitchGear 3'UTR luciferase reporter plasmid: TAT 3' UTR sequence

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Additional cDNA sequence:

AK313380.1 BC020707.1 BC022292.1 BC130534.1 X52520.1 X55675.1

7 DOTS entries:

DT.410956 DT.92445496 DT.91971153 DT.91971151 DT.120656384 DT.91943210 DT.95142691

24/66 AceView cDNA sequences (see all 66):

X55675 BC020707 BC022292 CB161938 AV651993 AV652015 BX505436 AV649381

BG565770 BG568198 CB153377 AV661294 BX100092 AV646142 BG533529 BP357323

BG533462 CB153890 BG565244 BG617412 T28660 BG566900 BG567671 NM_000353

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for TAT About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	·	3c	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10	^	11a	·	11b	^	12a	·	12b
SP1:											-																				-
SP2:																									-						-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for TAT

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TAT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATTTGGTGA

About this image

TAT expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Hepatocyte-like cells (Mouse embryonic stem...)

Hepatocyte-like cells (Functional hepatocyt...)

Immature hepatocyte-like cells (Generation of hepato...)

See TAT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TAT

SOURCE GeneReport for Unigene cluster: Hs.161640

SABiosciences Expression via Pathway-Focused PCR Arrays including TAT:

Cell Lineage Identification in human mouse rat

Terminal Differentiation Markers in human mouse rat

Amino Acid Metabolism I in human mouse rat

Embryonic Stem Cells in human mouse rat

Osmotic Stress in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for TAT gene from 9/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TAT¹	tyrosine aminotransferase	76.28(n) 82.16(a)		415884 XM_414240.2 XP_414240.1
lizard (Anolis carolinensis)	Reptilia	TAT⁶	--	78(a)	1 ↔ 1	GL343483.1(284967-291626)
African clawed frog (Xenopus laevis)	Amphibia	Xl.32186²	Xenopus laevis transcribed sequence with moderate similarity more	78.2(n)		BJ626626.1
zebrafish (Danio rerio)	Actinopterygii	tat¹	tyrosine aminotransferase	68.05(n) 72.81(a)		561410 NM_001077554.1 NP_001071022.1
fruit fly (Drosophila melanogaster)	Insecta	CG1461^{1 , 3}	tyrosine aminotransferase³ CG1461¹	52(a)³ 57.13(n)¹ 52.74(a)¹		32381¹ NM_132725.2¹ NP_572953.1¹
worm (Caenorhabditis elegans)	Secernentea	F42D1.2³ tatn-1¹	tyrosine aminotransferase³ Protein TATN-1¹	44(a)³ 51.29(n)¹ 44.2(a)¹		X(14826283-14827867)³ 181574¹ NM_078053.4¹ NP_510454.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G36160¹	tyrosine aminotransferase	47.86(n) 35.01(a)		833613 NM_123007.5 NP_198465.3
rice (Oryza sativa)	Liliopsida	Os02g0302700¹	hypothetical protein	46.95(n) 37.13(a)		4329101 NM_001053163.1 NP_001046628.1
E. coli (Escherichia coli)	Gamma proteobacteria	alaA⁶ malY⁶	valine-pyruvate aminotransferase 2 bifunctional beta-cystathionase, PLP-dependent/ re...	23(a) 14(a)	1 ↔ 1 possible ortholog	Chromosome(2405583-2406800) Chromosome(1698981-1700153)

ENSEMBL Gene Tree for TAT (if available)
TreeFam Gene Tree for TAT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TAT gene

CCBL1² CCBL2²

TAT for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs8063793^1,2	H	--	57368282(+)	`GGTAAC/TTTAAG`	2	--	ds500¹ int¹		4	NS EA	408
rs1477387^1,2	C,A,,	--	57368370(-)	`GTTTTG/TTTTTT`	2	--	int¹ ds500¹		1	WA	2
rs75855289^1,2		--	57368752(+)	`TTATTT/AAAAAA`	2	--	ut3¹ int¹		1	NA	2
rs76704386^1,2	C,F,	--	57369508(+)	`AATCAC/TCAAAT`	2	--	int¹ ut3¹		1	WA	118
rs113110476^1,2	C,F,	--	57369918(+)	`ACATGG/ATGCAT`	2	--	int¹ ut3¹		1	NA	120
rs74027254^1,2	C,	--	57369968(+)	`GGAGCG/CGCAAG`	2	--	int¹ ut3¹		1	WA	2
rs1364210^1,2	C,F,A,	--	57371468(-)	`GTGGAC/TGGATC`	2	--	int¹		1	NA	120
rs74027256^1,2	C,	--	57371999(+)	`ATGGCC/TGGAAG`	2	--	int¹		1	WA	2
rs13339247^1,2	C,F,H,	--	57372033(+)	`TACACC/TGATGC`	2	--	int¹		22	NA NS EA WA CSA	1778
rs113758103^1,2	C	--	57372151(+)	`CCCTTA/G/TCCTTG`	2	--	spd¹ int¹		1	CSA	1

HapMap Linkage Disequilibrium report for TAT (71599563 - 71611033 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TAT: --
Human Gene Mutation Database (HGMD): TAT

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TAT

DNA2.0 Custom Variant and Variant Library Synthesis for TAT

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TAT for disorders           About GeneDecksing

OMIM gene information: 613018
OMIM disorders: 277660
UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735

Defects in TAT are the cause of tyrosinemia type 2 (TYRO2) [MIM:276600]; also known as Richner-Hanhart

syndrome. TYRO2 is an inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and

oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and mental

retardation

20/83 diseases for TAT (see all 83): About MalaCards

tyrosinemia type ii tyrosinemia hanhart syndrome north american indian childhood cirrhosis

disseminated intravascular coagulation aids dementia complex human t-cell leukemia virus type 1 progressive multifocal leukoencephalopathy

human immunodeficiency virus infectious disease palmoplantar keratosis kaposi's sarcoma liver cirrhosis

japanese encephalitis alcoholic liver cirrhosis focal glomerulosclerosis herpes simplex

burkitt's lymphoma toxic encephalopathy ectodermal dysplasia metabolic disorders

6 diseases from the University of Copenhagen DISEASES database for TAT:

Tyrosinemia Kaposi's sarcoma Human immunodeficiency virus infectious disease Hepatocellular carcinoma

Progressive multifocal leukoencephalopathy Keratitis

10/87 Novoseek disease relationships for TAT gene (see all 87) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
immunodeficiency	91.1	511	12605891 (4), 8434019 (4), 17229693 (3), 10665489 (3) (see all 99)
tyrosinemia type ii	84.1	11	16640556 (2), 16050420 (1), 16602095 (1), 9544843 (1) (see all 8)
equine infectious anemia	74.2	9	8178449 (2), 10964778 (2), 8906885 (1), 1312617 (1) (see all 6)
aids dementia complex	70.9	6	15801785 (1), 19886840 (1), 17505985 (1), 9278385 (1) (see all 6)
aids	66.7	79	10477700 (2), 10812220 (2), 7584083 (2), 14984439 (2) (see all 60)
hiv infections	63	40	19526283 (2), 15869407 (1), 15976177 (1), 8212135 (1) (see all 37)
kaposi sarcoma	62.1	23	16436505 (2), 8416373 (1), 12055184 (1), 15942664 (1) (see all 22)
hiv encephalitis	59.8	1	10751368 (1)
aids-related malignancies	57	2	10799578 (1)
dementia	51.8	13	11060751 (1), 15710248 (1), 16356633 (1), 17078933 (1) (see all 11)

Genatlas disease: TAT

tyrosinemia II,oculocutaneous,Richner-Hanhart syndrome,with palmoplantar keratoderma (hyperkeratosis),ectodermal

dysplasia and corneal dystrophy

Export disorders for TAT gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TAT gene, integrated from 9 sources (see all 814):
(articles sorted by number of sources associating them with TAT)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and expression of human tyrosine aminotransferase cDNA. (PubMed id 7999802)^{1, 2, 9} Seralini G.E.... Labrie F. (1995)
Nucleotide sequence of the human tyrosine aminotransferase gene. (PubMed id 7908801)^{1, 2, 9} Zelenin S.M. and Mertvetsov N.P. (1994)
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. (PubMed id 1357662)^{1, 2, 9} Natt E.... Scherer G. (1992)
Isolation and characterization of the human tyrosine aminotransferase gene. (PubMed id 1973834)^{1, 2, 9} Rettenmeier R.... Scherer G. (1990)
Human immunodeficiency virus type 1 Tat protein decreases cyclic AMP synthesis in rat microglia cultures. (PubMed id 11299302)^{7, 9} Patrizio M....Levi G. (2001)
Tyrosine aminotransferase and gamma-glutamyl transferase activity in human fetal hepatocyte primary cultures under proliferative conditions. (PubMed id 15027097)^{1, 9} Rehman K.K....Habibullah C.M. (2004)
The growth factor granulin interacts with cyclin T1 and modulates P-TEFb-dependent transcription. (PubMed id 12588988)^{1, 9} Hoque M....Pe'ery T. (2003)
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. (PubMed id 16917729)^{1, 9} Maydan G....Korman S.H. (2006)
The human I-mfa domain-containing protein, HIC, interacts with cyclin T1 and modulates P-TEFb-dependent transcription. (PubMed id 12944466)^{1, 9} Young T.M.... Mathews M.B. (2003)
Differentiation of human embryonic stem cells into hepatocytes in 2D and 3D culture systems in vitro. (PubMed id 16892178)^{1, 9} Baharvand H....Farrokhi A. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6898	HGNC: 11573	AceView: TAT	Ensembl:ENSG00000198650	euGenes: HUgn6898
ECgene: TAT	Kegg: 6898	H-InvDB: TAT

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TAT	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TAT	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TAT

Intellectual Property for TAT gene
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Patent Information for TAT gene:
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GeneCards and IP:
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tyrosine aminotransferase

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