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UniProtKB - P04181 (OAT_HUMAN)

Entry version 230 (02 Jun 2021)
Sequence version 1 (20 Mar 1987)
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Protein

Ornithine aminotransferase, mitochondrial

Gene

OAT

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

pyridoxal 5'-phosphate1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-proline biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes L-glutamate 5-semialdehyde from L-ornithine. This subpathway is part of the pathway L-proline biosynthesis, which is itself part of Amino-acid biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-glutamate 5-semialdehyde from L-ornithine, the pathway L-proline biosynthesis and in Amino-acid biosynthesis.

<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 ...

<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>Keywordsi

Molecular functionAminotransferase, Transferase
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS00832-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.6.1.13, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P04181

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8964539, Glutamate and glutamine metabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P04181

SIGNOR Signaling Network Open Resource

More...SIGNORi		P04181

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00098;UER00358

<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%5Fand%5Ftaxonomy%5Fsection">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:
Ornithine aminotransferase, mitochondrial (EC:2.6.1.13)
Alternative name(s):
Ornithine delta-aminotransferase
Ornithine--oxo-acid aminotransferase
Cleaved into the following 2 chains:
Ornithine aminotransferase, hepatic form
Ornithine aminotransferase, renal form
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:OAT
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8091, OAT

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613349, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P04181

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000065154.11

<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

Keywords - Cellular componenti

Mitochondrion

<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

Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.
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_07192451G → D in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs11553554Ensembl.1
Natural variantiVAR_00056554N → K in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965048Ensembl.1
Natural variantiVAR_00056655Y → H in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965037Ensembl.1
Natural variantiVAR_00056789N → K in HOGA. 1 PublicationCorresponds to variant dbSNP:rs386833602EnsemblClinVar.1
Natural variantiVAR_01564890Q → E in HOGA; mistargeted, accumulates in cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121965060Ensembl.1
Natural variantiVAR_00056893C → F in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965038Ensembl.1
Natural variantiVAR_071925104Q → R in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs386833604EnsemblClinVar.1
Natural variantiVAR_000569154R → L in HOGA; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121965039Ensembl.1
Natural variantiVAR_000570180R → T in HOGA; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121965040Ensembl.1
Natural variantiVAR_000571184Missing in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965035Ensembl.1
Natural variantiVAR_071926199P → Q in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs267606925Ensembl.1
Natural variantiVAR_000572226A → V in HOGA; loss of activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121965059EnsemblClinVar.1
Natural variantiVAR_000573241P → L in HOGA. 2 PublicationsCorresponds to variant dbSNP:rs121965051EnsemblClinVar.1
Natural variantiVAR_000574245Y → C in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965046EnsemblClinVar.1
Natural variantiVAR_000575250R → P in HOGA. 2 PublicationsCorresponds to variant dbSNP:rs121965052EnsemblClinVar.1
Natural variantiVAR_000576267T → I in HOGA. 1 PublicationCorresponds to variant dbSNP:rs386833618EnsemblClinVar.1
Natural variantiVAR_000577270A → P in HOGA. Corresponds to variant dbSNP:rs121965041EnsemblClinVar.1
Natural variantiVAR_000578271R → K in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965042EnsemblClinVar.1
Natural variantiVAR_071927318E → K in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs386833621EnsemblClinVar.1
Natural variantiVAR_000579319H → Y in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965049EnsemblClinVar.1
Natural variantiVAR_000580332V → M in HOGA; loss of activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121965047EnsemblClinVar.1
Natural variantiVAR_000581353G → D in HOGA. 2 PublicationsCorresponds to variant dbSNP:rs121965053EnsemblClinVar.1
Natural variantiVAR_000582375G → A in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965045EnsemblClinVar.1
Natural variantiVAR_000583394C → R in HOGA. 2 PublicationsCorresponds to variant dbSNP:rs121965054EnsemblClinVar.1
Natural variantiVAR_071928394C → Y in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs386833597EnsemblClinVar.1
Natural variantiVAR_000584402L → P in HOGA; loss of activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121965043EnsemblClinVar.1
Natural variantiVAR_000585417P → L in HOGA; loss of activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121965044EnsemblClinVar.1
Natural variantiVAR_071929436I → N in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs386833598EnsemblClinVar.1
Natural variantiVAR_000586437L → F in HOGA; no effect on activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1800456EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4942

MalaCards human disease database

More...MalaCardsi		OAT
MIMi258870, phenotype

Open Targets

More...OpenTargetsi		ENSG00000065154

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

More...Orphaneti		414, Gyrate atrophy of choroid and retina

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31880

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P04181, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5954

Drug and drug target database

More...DrugBanki		DB02821, Canaline
DB02054, Gabaculine
DB00129, Ornithine
DB00114, Pyridoxal phosphate

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		OAT

Domain mapping of disease mutations (DMDM)

More...DMDMi		129018

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 35Mitochondrion; in renal form1 PublicationAdd BLAST35
Transit peptidei1 – 25Mitochondrion; in hepatic formAdd BLAST25
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000126226 – 439Ornithine aminotransferase, hepatic formAdd BLAST414
ChainiPRO_000000126336 – 439Ornithine aminotransferase, renal formAdd BLAST404

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei49N6-acetyllysineBy similarity1
Modified residuei66N6-acetyllysineBy similarity1
Modified residuei102N6-succinyllysineBy similarity1
Modified residuei107N6-acetyllysine; alternateBy similarity1
Modified residuei107N6-succinyllysine; alternateBy similarity1
Modified residuei292N6-(pyridoxal phosphate)lysine1 Publication1
Modified residuei362N6-acetyllysine; alternateBy similarity1
Modified residuei362N6-succinyllysine; alternateBy similarity1
Modified residuei386N6-acetyllysineBy similarity1
Modified residuei392N6-acetyllysineBy similarity1
Modified residuei405N6-acetyllysine; alternateBy similarity1
Modified residuei405N6-succinyllysine; alternateBy similarity1
Modified residuei421N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P04181

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P04181

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P04181

MaxQB - The MaxQuant DataBase

More...MaxQBi		P04181

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

More...PaxDbi		P04181

PeptideAtlas

More...PeptideAtlasi		P04181

PRoteomics IDEntifications database

More...PRIDEi		P04181

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51672 [P04181-1]
51673 [P04181-2]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00022334

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P04181

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P04181

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P04181

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

More...PhosphoSitePlusi		P04181

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P04181

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000065154, Expressed in jejunal mucosa and 248 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P04181, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P04181, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000065154, Tissue enhanced (intestine)

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homohexamer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110996, 127 interactors

Protein interaction database and analysis system

More...IntActi		P04181, 32 interactors

Molecular INTeraction database

More...MINTi		P04181

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000357838

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P04181

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P04181, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1439
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P04181

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P04181

<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

<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 class-III pyridoxal-phosphate-dependent aminotransferase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1402, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00630000089895

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_016922_10_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P04181

Identification of Orthologs from Complete Genome Data

More...OMAi		DVFPRFA

Database for complete collections of gene phylogenies

More...PhylomeDBi		P04181

TreeFam database of animal gene trees

More...TreeFami		TF105720

Family and domain databases

Conserved Domains Database

More...CDDi		cd00610, OAT_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.640.10, 1 hit
3.90.1150.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR005814, Aminotrans_3
IPR010164, Orn_aminotrans
IPR015424, PyrdxlP-dep_Trfase
IPR015422, PyrdxlP-dep_Trfase_dom1
IPR015421, PyrdxlP-dep_Trfase_major

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00202, Aminotran_3, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000521, Transaminase_4ab_Lys_Orn, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53383, SSF53383, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR01885, Orn_aminotrans, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00600, AA_TRANSFER_CLASS_3, 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%5Flength">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 (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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
Isoform 1 (identifier: P04181-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MFSKLAHLQR FAVLSRGVHS SVASATSVAT KKTVQGPPTS DDIFEREYKY 
        60         70         80         90        100
GAHNYHPLPV ALERGKGIYL WDVEGRKYFD FLSSYSAVNQ GHCHPKIVNA 
       110        120        130        140        150
LKSQVDKLTL TSRAFYNNVL GEYEEYITKL FNYHKVLPMN TGVEAGETAC 
       160        170        180        190        200
KLARKWGYTV KGIQKYKAKI VFAAGNFWGR TLSAISSSTD PTSYDGFGPF 
       210        220        230        240        250
MPGFDIIPYN DLPALERALQ DPNVAAFMVE PIQGEAGVVV PDPGYLMGVR 
       260        270        280        290        300
ELCTRHQVLF IADEIQTGLA RTGRWLAVDY ENVRPDIVLL GKALSGGLYP 
       310        320        330        340        350
VSAVLCDDDI MLTIKPGEHG STYGGNPLGC RVAIAALEVL EEENLAENAD 
       360        370        380        390        400
KLGIILRNEL MKLPSDVVTA VRGKGLLNAI VIKETKDWDA WKVCLRLRDN 
       410        420        430 
GLLAKPTHGD IIRFAPPLVI KEDELRESIE IINKTILSF
Length:439
Mass (Da):48,535
Last modified:March 20, 1987 - 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:iE9D0636824A83220
GO
Isoform 2 (identifier: P04181-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-138: Missing.

Show »
Length:301
Mass (Da):32,853
Checksum:i9CFA7F66DDB264F0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07192451G → D in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs11553554Ensembl.1
Natural variantiVAR_00056554N → K in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965048Ensembl.1
Natural variantiVAR_00056655Y → H in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965037Ensembl.1
Natural variantiVAR_00056789N → K in HOGA. 1 PublicationCorresponds to variant dbSNP:rs386833602EnsemblClinVar.1
Natural variantiVAR_01564890Q → E in HOGA; mistargeted, accumulates in cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121965060Ensembl.1
Natural variantiVAR_00056893C → F in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965038Ensembl.1
Natural variantiVAR_071925104Q → R in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs386833604EnsemblClinVar.1
Natural variantiVAR_000569154R → L in HOGA; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121965039Ensembl.1
Natural variantiVAR_000570180R → T in HOGA; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121965040Ensembl.1
Natural variantiVAR_000571184Missing in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965035Ensembl.1
Natural variantiVAR_071926199P → Q in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs267606925Ensembl.1
Natural variantiVAR_000572226A → V in HOGA; loss of activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121965059EnsemblClinVar.1
Natural variantiVAR_000573241P → L in HOGA. 2 PublicationsCorresponds to variant dbSNP:rs121965051EnsemblClinVar.1
Natural variantiVAR_000574245Y → C in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965046EnsemblClinVar.1
Natural variantiVAR_000575250R → P in HOGA. 2 PublicationsCorresponds to variant dbSNP:rs121965052EnsemblClinVar.1
Natural variantiVAR_000576267T → I in HOGA. 1 PublicationCorresponds to variant dbSNP:rs386833618EnsemblClinVar.1
Natural variantiVAR_000577270A → P in HOGA. Corresponds to variant dbSNP:rs121965041EnsemblClinVar.1
Natural variantiVAR_000578271R → K in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965042EnsemblClinVar.1
Natural variantiVAR_071927318E → K in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs386833621EnsemblClinVar.1
Natural variantiVAR_000579319H → Y in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965049EnsemblClinVar.1
Natural variantiVAR_000580332V → M in HOGA; loss of activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121965047EnsemblClinVar.1
Natural variantiVAR_000581353G → D in HOGA. 2 PublicationsCorresponds to variant dbSNP:rs121965053EnsemblClinVar.1
Natural variantiVAR_000582375G → A in HOGA. 1 PublicationCorresponds to variant dbSNP:rs121965045EnsemblClinVar.1
Natural variantiVAR_000583394C → R in HOGA. 2 PublicationsCorresponds to variant dbSNP:rs121965054EnsemblClinVar.1
Natural variantiVAR_071928394C → Y in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs386833597EnsemblClinVar.1
Natural variantiVAR_000584402L → P in HOGA; loss of activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121965043EnsemblClinVar.1
Natural variantiVAR_000585417P → L in HOGA; loss of activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121965044EnsemblClinVar.1
Natural variantiVAR_071929436I → N in HOGA; loss of activity and protein stability. 1 PublicationCorresponds to variant dbSNP:rs386833598EnsemblClinVar.1
Natural variantiVAR_000586437L → F in HOGA; no effect on activity and protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1800456EnsemblClinVar.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_0430851 – 138Missing in isoform 2. 2 PublicationsAdd BLAST138

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
M12267 mRNA Translation: AAA59956.1
M14963 mRNA Translation: AAA59959.1
Y07511 mRNA Translation: CAA68809.1
M23204 mRNA Translation: AAA36386.1
M23205 Genomic DNA No translation available.
M88760 Genomic DNA Translation: AAA59958.1 Sequence problems.
M29927 M29926 Genomic DNA Translation: AAA59957.1
AK296032 mRNA Translation: BAH12241.1
AK312561 mRNA Translation: BAG35458.1
AK315947 mRNA Translation: BAH14318.1
CR457045 mRNA Translation: CAG33326.1
CR749808 mRNA Translation: CAH18668.1
AL445237 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49271.1
CH471066 Genomic DNA Translation: EAW49272.1
BC000964 mRNA Translation: AAH00964.1
BC016928 mRNA Translation: AAH16928.1
S66418 mRNA Translation: AAB20298.1
S66421 mRNA Translation: AAB20297.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53586.1 [P04181-2]
CCDS7639.1 [P04181-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A30806, XNHUO
I55360

NCBI Reference Sequences

More...RefSeqi		NP_000265.1, NM_000274.3 [P04181-1]
NP_001165285.1, NM_001171814.1 [P04181-2]
NP_001309894.1, NM_001322965.1 [P04181-1]
NP_001309895.1, NM_001322966.1 [P04181-1]
NP_001309896.1, NM_001322967.1 [P04181-1]
NP_001309897.1, NM_001322968.1 [P04181-1]
NP_001309898.1, NM_001322969.1 [P04181-1]
NP_001309899.1, NM_001322970.1 [P04181-1]
NP_001309900.1, NM_001322971.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000368845; ENSP00000357838; ENSG00000065154 [P04181-1]
ENST00000539214; ENSP00000439042; ENSG00000065154 [P04181-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4942

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4942

UCSC genome browser

More...UCSCi		uc001lhp.4, human [P04181-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M12267 mRNA Translation: AAA59956.1
M14963 mRNA Translation: AAA59959.1
Y07511 mRNA Translation: CAA68809.1
M23204 mRNA Translation: AAA36386.1
M23205 Genomic DNA No translation available.
M88760 Genomic DNA Translation: AAA59958.1 Sequence problems.
M29927 M29926 Genomic DNA Translation: AAA59957.1
AK296032 mRNA Translation: BAH12241.1
AK312561 mRNA Translation: BAG35458.1
AK315947 mRNA Translation: BAH14318.1
CR457045 mRNA Translation: CAG33326.1
CR749808 mRNA Translation: CAH18668.1
AL445237 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49271.1
CH471066 Genomic DNA Translation: EAW49272.1
BC000964 mRNA Translation: AAH00964.1
BC016928 mRNA Translation: AAH16928.1
S66418 mRNA Translation: AAB20298.1
S66421 mRNA Translation: AAB20297.1
CCDSiCCDS53586.1 [P04181-2]
CCDS7639.1 [P04181-1]
PIRiA30806, XNHUO
I55360
RefSeqiNP_000265.1, NM_000274.3 [P04181-1]
NP_001165285.1, NM_001171814.1 [P04181-2]
NP_001309894.1, NM_001322965.1 [P04181-1]
NP_001309895.1, NM_001322966.1 [P04181-1]
NP_001309896.1, NM_001322967.1 [P04181-1]
NP_001309897.1, NM_001322968.1 [P04181-1]
NP_001309898.1, NM_001322969.1 [P04181-1]
NP_001309899.1, NM_001322970.1 [P04181-1]
NP_001309900.1, NM_001322971.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GBNX-ray2.30A/B/C38-439[»]
1OATX-ray2.50A/B/C1-439[»]
2BYJX-ray3.02A/B/C1-439[»]
2BYLX-ray2.15A/B/C1-439[»]
2CANX-ray2.30A/B/C38-439[»]
2OATX-ray1.95A/B/C1-439[»]
5VWOX-ray1.77A/B/C36-439[»]
6HX7X-ray1.80A/B/C26-439[»]
6OIAX-ray1.78A/B/C36-439[»]
6V8CX-ray1.90A/B/C36-439[»]
6V8DX-ray2.25A/B/C36-439[»]
7JX9X-ray1.96A/B/C36-439[»]
SMRiP04181
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110996, 127 interactors
IntActiP04181, 32 interactors
MINTiP04181
STRINGi9606.ENSP00000357838

Chemistry databases

BindingDBiP04181
ChEMBLiCHEMBL5954
DrugBankiDB02821, Canaline
DB02054, Gabaculine
DB00129, Ornithine
DB00114, Pyridoxal phosphate

PTM databases

CarbonylDBiP04181
iPTMnetiP04181
MetOSiteiP04181
PhosphoSitePlusiP04181
SwissPalmiP04181

Genetic variation databases

BioMutaiOAT
DMDMi129018

2D gel databases

REPRODUCTION-2DPAGEiIPI00022334

Proteomic databases

EPDiP04181
jPOSTiP04181
MassIVEiP04181
MaxQBiP04181
PaxDbiP04181
PeptideAtlasiP04181
PRIDEiP04181
ProteomicsDBi51672 [P04181-1]
51673 [P04181-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32371, 249 antibodies

The DNASU plasmid repository

More...DNASUi		4942

Genome annotation databases

EnsembliENST00000368845; ENSP00000357838; ENSG00000065154 [P04181-1]
ENST00000539214; ENSP00000439042; ENSG00000065154 [P04181-2]
GeneIDi4942
KEGGihsa:4942
UCSCiuc001lhp.4, human [P04181-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4942
DisGeNETi4942

GeneCards: human genes, protein and diseases

More...GeneCardsi		OAT
HGNCiHGNC:8091, OAT
HPAiENSG00000065154, Tissue enhanced (intestine)
MalaCardsiOAT
MIMi258870, phenotype
613349, gene
neXtProtiNX_P04181
OpenTargetsiENSG00000065154
Orphaneti414, Gyrate atrophy of choroid and retina
PharmGKBiPA31880
VEuPathDBiHostDB:ENSG00000065154.11

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1402, Eukaryota
GeneTreeiENSGT00630000089895
HOGENOMiCLU_016922_10_3_1
InParanoidiP04181
OMAiDVFPRFA
PhylomeDBiP04181
TreeFamiTF105720

Enzyme and pathway databases

UniPathwayiUPA00098;UER00358
BioCyciMetaCyc:HS00832-MONOMER
BRENDAi2.6.1.13, 2681
PathwayCommonsiP04181
ReactomeiR-HSA-8964539, Glutamate and glutamine metabolism
SABIO-RKiP04181
SIGNORiP04181

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4942, 6 hits in 996 CRISPR screens

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

More...ChiTaRSi		OAT, human
EvolutionaryTraceiP04181

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

More...GenomeRNAii		4942
PharosiP04181, Tchem

Protein Ontology

More...PROi		PR:P04181
RNActiP04181, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000065154, Expressed in jejunal mucosa and 248 other tissues
ExpressionAtlasiP04181, baseline and differential
GenevisibleiP04181, HS

Family and domain databases

CDDicd00610, OAT_like, 1 hit
Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 1 hit
InterProiView protein in InterPro
IPR005814, Aminotrans_3
IPR010164, Orn_aminotrans
IPR015424, PyrdxlP-dep_Trfase
IPR015422, PyrdxlP-dep_Trfase_dom1
IPR015421, PyrdxlP-dep_Trfase_major
PfamiView protein in Pfam
PF00202, Aminotran_3, 1 hit
PIRSFiPIRSF000521, Transaminase_4ab_Lys_Orn, 1 hit
SUPFAMiSSF53383, SSF53383, 1 hit
TIGRFAMsiTIGR01885, Orn_aminotrans, 1 hit
PROSITEiView protein in PROSITE
PS00600, AA_TRANSFER_CLASS_3, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiOAT_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: P04181
Secondary accession number(s): D3DRF0
, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 1987
Last sequence update: March 20, 1987
Last modified: June 2, 2021
This is version 230 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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