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UniProtKB - Q9Y619 (ORNT1_HUMAN)

Entry version 181 (02 Jun 2021)
Sequence version 1 (01 Nov 1999)
Previous versions | rss
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Protein

Mitochondrial ornithine transporter 1

Gene

SLC25A15

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

Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline (PubMed:12807890).

The stoichiometry is close to 1:1 (By similarity).

By similarity1 Publication

<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

Biological processTransport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y619

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-70635, Urea cycle

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q9Y619

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.29.19.2, the mitochondrial carrier (mc) family

<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:
Mitochondrial ornithine transporter 1
Alternative name(s):
Solute carrier family 25 member 15
<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:SLC25A15
Synonyms:ORC11 Publication, ORNT1
ORF Names:SP1855
<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 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10985, SLC25A15

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603861, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y619

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000102743.14

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei5 – 25Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei68 – 88Helical; Name=2Sequence analysisAdd BLAST21
Transmembranei110 – 130Helical; Name=3Sequence analysisAdd BLAST21
Transmembranei168 – 188Helical; Name=4Sequence analysisAdd BLAST21
Transmembranei207 – 227Helical; Name=5Sequence analysisAdd BLAST21
Transmembranei237 – 257Helical; Name=6Sequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner 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

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS)8 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs.
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_01275727G → E in HHHS. 1 PublicationCorresponds to variant dbSNP:rs1208994024Ensembl.1
Natural variantiVAR_01275827G → R in HHHS; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 4 PublicationsCorresponds to variant dbSNP:rs104894430EnsemblClinVar.1
Natural variantiVAR_05894837M → R in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908533EnsemblClinVar.1
Natural variantiVAR_05894970A → L in HHHS; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064793683EnsemblClinVar.1
Natural variantiVAR_05895071L → Q in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908534EnsemblClinVar.1
Natural variantiVAR_058951113G → C in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs199894905EnsemblClinVar.1
Natural variantiVAR_012759126P → R in HHHS. 1 Publication1
Natural variantiVAR_012760180E → K in HHHS. 1 PublicationCorresponds to variant dbSNP:rs104894424EnsemblClinVar.1
Natural variantiVAR_058952188F → L in HHHS. 1 PublicationCorresponds to variant dbSNP:rs141028076EnsemblClinVar.1
Natural variantiVAR_012761188Missing in HHHS; maintains a residual transport activity of 10%. 4 PublicationsCorresponds to variant dbSNP:rs202247803Ensembl.1
Natural variantiVAR_012762190G → D in HHHS; maintains a residual transport activity of 35%. 3 PublicationsCorresponds to variant dbSNP:rs202247804EnsemblClinVar.1
Natural variantiVAR_058953216G → S in HHHS. 1 PublicationCorresponds to variant dbSNP:rs1417167600Ensembl.1
Natural variantiVAR_058954272T → I in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908535EnsemblClinVar.1
Natural variantiVAR_058955273M → K in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs202247808Ensembl.1
Natural variantiVAR_012764275R → Q in HHHS. 3 PublicationsCorresponds to variant dbSNP:rs104894431EnsemblClinVar.1
Natural variantiVAR_058956283L → F in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs202247809EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		10166

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

More...GeneReviewsi		SLC25A15

MalaCards human disease database

More...MalaCardsi		SLC25A15
MIMi238970, phenotype

Open Targets

More...OpenTargetsi		ENSG00000102743

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

More...Orphaneti		415, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35861

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y619, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00129, Ornithine

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC25A15

Domain mapping of disease mutations (DMDM)

More...DMDMi		20139303

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000906501 – 301Mitochondrial ornithine transporter 1Add BLAST301

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y619

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y619

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y619

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9Y619

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

More...PaxDbi		Q9Y619

PeptideAtlas

More...PeptideAtlasi		Q9Y619

PRoteomics IDEntifications database

More...PRIDEi		Q9Y619

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86587

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y619

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

More...PhosphoSitePlusi		Q9Y619

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9Y619

<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

Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000102743, Expressed in pancreas and 125 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y619, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y619, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000102743, Group enriched (intestine, liver, pancreas)

<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		115468, 24 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y619, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000342267

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y619, 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

3D structure databases

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

More...SMRi		Q9Y619

Database of comparative protein structure models

More...ModBasei		Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati7 – 91Solcar 1Add BLAST85
Repeati104 – 197Solcar 2Add BLAST94
Repeati207 – 293Solcar 3Add BLAST87

<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 mitochondrial carrier (TC 2.A.29) family. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0763, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00730000110966

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_015166_16_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y619

Identification of Orthologs from Complete Genome Data

More...OMAi		RGFWHGQ

Database of Orthologous Groups

More...OrthoDBi		1072378at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y619

TreeFam database of animal gene trees

More...TreeFami		TF314880

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.50.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR018108, Mitochondrial_sb/sol_carrier
IPR023395, Mt_carrier_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00153, Mito_carr, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF103506, SSF103506, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50920, SOLCAR, 3 hits

<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>Sequence (1+)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.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9Y619-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKSNPAIQAA IDLTAGAAGG TACVLTGQPF DTMKVKMQTF PDLYRGLTDC 
        60         70         80         90        100
CLKTYSQVGF RGFYKGTSPA LIANIAENSV LFMCYGFCQQ VVRKVAGLDK 
       110        120        130        140        150
QAKLSDLQNA AAGSFASAFA ALVLCPTELV KCRLQTMYEM ETSGKIAKSQ 
       160        170        180        190        200
NTVWSVIKSI LRKDGPLGFY HGLSSTLLRE VPGYFFFFGG YELSRSFFAS 
       210        220        230        240        250
GRSKDELGPV PLMLSGGVGG ICLWLAVYPV DCIKSRIQVL SMSGKQAGFI 
       260        270        280        290        300
RTFINVVKNE GITALYSGLK PTMIRAFPAN GALFLAYEYS RKLMMNQLEA 

Y
Length:301
Mass (Da):32,736
Last modified:November 1, 1999 - 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:i34436A15B105DC53
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5VZD9Q5VZD9_HUMAN
Mitochondrial ornithine transporter...
SLC25A15
133Annotation 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>
F2Z354F2Z354_HUMAN
Mitochondrial ornithine transporter...
SLC25A15
57Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01275727G → E in HHHS. 1 PublicationCorresponds to variant dbSNP:rs1208994024Ensembl.1
Natural variantiVAR_01275827G → R in HHHS; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline. 4 PublicationsCorresponds to variant dbSNP:rs104894430EnsemblClinVar.1
Natural variantiVAR_05894837M → R in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908533EnsemblClinVar.1
Natural variantiVAR_05894970A → L in HHHS; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064793683EnsemblClinVar.1
Natural variantiVAR_05895071L → Q in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908534EnsemblClinVar.1
Natural variantiVAR_058951113G → C in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs199894905EnsemblClinVar.1
Natural variantiVAR_012759126P → R in HHHS. 1 Publication1
Natural variantiVAR_012760180E → K in HHHS. 1 PublicationCorresponds to variant dbSNP:rs104894424EnsemblClinVar.1
Natural variantiVAR_058952188F → L in HHHS. 1 PublicationCorresponds to variant dbSNP:rs141028076EnsemblClinVar.1
Natural variantiVAR_012761188Missing in HHHS; maintains a residual transport activity of 10%. 4 PublicationsCorresponds to variant dbSNP:rs202247803Ensembl.1
Natural variantiVAR_012762190G → D in HHHS; maintains a residual transport activity of 35%. 3 PublicationsCorresponds to variant dbSNP:rs202247804EnsemblClinVar.1
Natural variantiVAR_058953216G → S in HHHS. 1 PublicationCorresponds to variant dbSNP:rs1417167600Ensembl.1
Natural variantiVAR_012763254I → L. Corresponds to variant dbSNP:rs17849654EnsemblClinVar.1
Natural variantiVAR_058954272T → I in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs121908535EnsemblClinVar.1
Natural variantiVAR_058955273M → K in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 2 PublicationsCorresponds to variant dbSNP:rs202247808Ensembl.1
Natural variantiVAR_012764275R → Q in HHHS. 3 PublicationsCorresponds to variant dbSNP:rs104894431EnsemblClinVar.1
Natural variantiVAR_058956283L → F in HHHS; exhibits very low transport activity despite normal insertion in the liposomal membrane. 1 PublicationCorresponds to variant dbSNP:rs202247809EnsemblClinVar.1

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
AF112968 mRNA Translation: AAD45238.1
AJ309943 Genomic DNA Translation: CAC83972.1
AF177333 mRNA Translation: AAG17977.1
AL161614 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08630.1
BC002702 mRNA Translation: AAH02702.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9373.1

NCBI Reference Sequences

More...RefSeqi		NP_055067.1, NM_014252.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000338625; ENSP00000342267; ENSG00000102743

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10166

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10166

UCSC genome browser

More...UCSCi		uc001uxn.4, human

<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
AF112968 mRNA Translation: AAD45238.1
AJ309943 Genomic DNA Translation: CAC83972.1
AF177333 mRNA Translation: AAG17977.1
AL161614 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08630.1
BC002702 mRNA Translation: AAH02702.1
CCDSiCCDS9373.1
RefSeqiNP_055067.1, NM_014252.3

3D structure databases

SMRiQ9Y619
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi115468, 24 interactors
IntActiQ9Y619, 10 interactors
STRINGi9606.ENSP00000342267

Chemistry databases

DrugBankiDB00129, Ornithine

Protein family/group databases

TCDBi2.A.29.19.2, the mitochondrial carrier (mc) family

PTM databases

iPTMnetiQ9Y619
PhosphoSitePlusiQ9Y619
SwissPalmiQ9Y619

Genetic variation databases

BioMutaiSLC25A15
DMDMi20139303

Proteomic databases

EPDiQ9Y619
jPOSTiQ9Y619
MassIVEiQ9Y619
MaxQBiQ9Y619
PaxDbiQ9Y619
PeptideAtlasiQ9Y619
PRIDEiQ9Y619
ProteomicsDBi86587

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		42171, 74 antibodies

The DNASU plasmid repository

More...DNASUi		10166

Genome annotation databases

EnsembliENST00000338625; ENSP00000342267; ENSG00000102743
GeneIDi10166
KEGGihsa:10166
UCSCiuc001uxn.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10166
DisGeNETi10166

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC25A15
GeneReviewsiSLC25A15
HGNCiHGNC:10985, SLC25A15
HPAiENSG00000102743, Group enriched (intestine, liver, pancreas)
MalaCardsiSLC25A15
MIMi238970, phenotype
603861, gene
neXtProtiNX_Q9Y619
OpenTargetsiENSG00000102743
Orphaneti415, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
PharmGKBiPA35861
VEuPathDBiHostDB:ENSG00000102743.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0763, Eukaryota
GeneTreeiENSGT00730000110966
HOGENOMiCLU_015166_16_3_1
InParanoidiQ9Y619
OMAiRGFWHGQ
OrthoDBi1072378at2759
PhylomeDBiQ9Y619
TreeFamiTF314880

Enzyme and pathway databases

PathwayCommonsiQ9Y619
ReactomeiR-HSA-70635, Urea cycle
SABIO-RKiQ9Y619

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10166, 7 hits in 995 CRISPR screens

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

More...ChiTaRSi		SLC25A15, human

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

More...GenomeRNAii		10166
PharosiQ9Y619, Tbio

Protein Ontology

More...PROi		PR:Q9Y619
RNActiQ9Y619, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000102743, Expressed in pancreas and 125 other tissues
ExpressionAtlasiQ9Y619, baseline and differential
GenevisibleiQ9Y619, HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR018108, Mitochondrial_sb/sol_carrier
IPR023395, Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153, Mito_carr, 3 hits
SUPFAMiSSF103506, SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920, SOLCAR, 3 hits

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 nameiORNT1_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: Q9Y619
Secondary accession number(s): Q5VZD8, Q9HC45
<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: February 11, 2002
Last sequence update: November 1, 1999
Last modified: June 2, 2021
This is version 181 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

Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: 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. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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