1. Gene
  2. TAT - tyrosine aminotransferase Gene

TAT - tyrosine aminotransferase Gene

Homo sapiens
Gene ID: 6898 | Gene type: protein coding

About TAT

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:71,565,660-71,577,092 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues, 7 paralogues and is associated with 3 phenotypes. Restricted expression toward liver (RPKM 242.2).

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]

TAT Products(1)

mRNA Protein Name
NM_000353.3 NP_000344.1 tyrosine aminotransferase

TAT Protein Structure

TAT_ubiq

TAT_ubiq: Aminotransferase ubiquitination site (1 - 40)

Aminotran_1_2

Aminotran_1_2: Aminotransferase class I and II (72 - 434)

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  • 454 a.a.
Protein Preferred Names Protein Names

tyrosine aminotransferase

L-tyrosine:2-oxoglutarate aminotransferase

Related Diseases

Diseases Alias
Tyrosinemia, Type Ii

Tyrosinemia Type Ii

Oculocutaneous Tyrosinemia

Richner-Hanhart Syndrome

Tyrosine Aminotransferase Deficiency

Tat Deficiency

Tyrosine Transaminase Deficiency

Keratosis Palmoplantaris With Corneal Dystrophy

TYRSN2

Oregon Type Tyrosinemia

Tyrosinemia Type 2

Tyrosinosis Oculocutaneous Type

Tyrosinosis, Oculocutaneous Type

Richner Hanhart Syndrome

Keratosis Palmoplantaris-Corneal Dystrophy Syndrome

Tyrosinemia Due To Tat Deficiency

Tyrosinemia Due To Tyrosine Aminotransferase Deficiency

Tyrosinemia 2

Tyrosinemia Oregon Type

Tyrosine Transaminase Deficiency Disease

Tyrosinemia

Hypertyrosinemia

Tyrosinemias

Hereditary Tyrosinemia

Hypertyrosinaemia

Tyrosinaemia

Hereditary Hypertyrosinemia

Tyrosinemia, Type Iii

Tyrosinemia Type Iii

4-Hydroxyphenylpyruvate Dioxygenase Deficiency

TYRSN3

4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Type 3

4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency

4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency

Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Due To Hpd Deficiency

Tyrosinemia 3

Human Immunodeficiency Virus Type 1

Aids

Hiv/Aids

Aids, Delayed/Rapid Progression To

Hiv-1, Susceptibility To

Hiv-1 Viremia, Susceptibility To

Human Immunodeficiency Virus Type 1, Susceptibility To

Hiv-1

Aids, Slow Progression To

Rapid Progression To Aids From Hiv1 Infection

Hiv1 Infection, Resistance To

Hiv1 Infection

Hiv-1 Viremia

Aids, Resistance To

Aids, Rapid Progression To

Hiv/Aids, Susceptibility To

Hiv-1, Resistance To

Hiv1, Resistance To

Hiv1

Hiv-1 Disease, Delayed Progression Of

Hiv-1 Disease, Rapid Progression Of

Hiv Infection, Resistance To

Hiv Type 1, Susceptibility To

Hiv Type 1

Hiv-1 Infection

Human Immunodeficiency Virus I Infection

Acquired Immunodeficiency Syndrome

Hiv-Infection/Aids

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Palmoplantar Keratosis

Palmoplantar Keratoderma

Keratosis Palmaris Et Plantaris

Palmo-Plantar Keratodermas

Keratoderma, Palmoplantar

Keratoderma Palmoplantar

Keratoderma, Palmoplantar, Diffuse

Hyperkeratosis Of Palms And Soles

Palmoplantar Hyperkeratosis

Disseminated Intravascular Coagulation

Defibrination Syndrome

Dic

Diffuse Or Disseminated Intravascular Coagulation

Fibrinolytic Purpura

Consumption Coagulopathy

Diffuse Intravascular Coagulation

Dic - [Disseminated Intravascular Coagulation]

Disseminated Intravascular Coagulopathy

Fibrinolysis Nos

Thrombolytic Purpura

Herpes Simplex Virus Keratitis

Dendritic Keratitis

Keratitis, Dendritic

Keratitis, Herpetic

Alkaptonuria

Homogentisic Acid Oxidase Deficiency

Alcaptonuria

AKU

Deficiency Of Homogentisicase

Homogentisate 1,2-Dioxygenase Deficiency

Alkaptonuric Ochronosis

Homogentisic Acidura

Ochronosis, Hereditary

Hereditary Ochronosis

Ochronosis

Homogentisicaciduria

Deficiency Of Homogentisate Oxygenase

Hawkinsinuria

4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency

4-Hppd Deficiency

4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency

HWKS

HAWK

Human Immunodeficiency Virus Infectious Disease

Hiv Infections

Tyrosinemia, Type I

Tyrosinemia Type I

Hepatorenal Tyrosinemia

Fumarylacetoacetase Deficiency

Fah Deficiency

TYRSN1

Fumarylacetoacetate Hydrolase Deficiency

Tyrosinemia Type 1

Tyrosinemia 1

Fumarylacetoacetase

Keratitis, Hereditary

Keratitis

Autosomal Dominant Keratitis

Hereditary Keratitis

Dominantly Inherited Keratitis

Keratitis Hereditary

KERH

Glutaric Aciduria Iii

Glutaryl-Coa Oxidase Deficiency

Ga Iii

Glutaric Acidemia Type 3

GA3

Glutaric Aciduria Type 3

Glutaric Aciduria 3

Glutaric Acidemia Type Iii

Glutaric Aciduria Type Iii

Corneal Dystrophy
Progressive Multifocal Leukoencephalopathy

Pml

Leukoencephalopathy, Progressive Multifocal

Progressive Multifocal Leukoencephalitis

Leukoencephalopathy Progressive Multifocal

Pml - [Progressive Multifocal Leukoencephalopathy]

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris TAT VGNC VGNC:53455
Bos taurus TAT VGNC VGNC:35616
Felis catus TAT VGNC VGNC:65965
Mus musculus TAT MGD MGI:98487
Macaca mulatta TAT VGNC VGNC:78100
Rattus norvegicus TAT RGD RGD:3820
Macaca fascicularis TAT NCBI
Susscrofa domestica TAT NCBI
Others TAT NCBI