Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 164 (11 Dec 2019)
Sequence version 2 (06 Mar 2007)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Membrane-associated transporter protein

Gene

SLC45A2

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

Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity).By similarity

<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

GO - Biological processi

<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 processMelanin biosynthesis, Sensory transduction, Vision

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5662702 Melanin biosynthesis

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.2.4.9 the glycoside-pentoside-hexuronide (gph):cation symporter 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_and_taxonomy_section">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:
Membrane-associated transporter protein
Alternative name(s):
Melanoma antigen AIM1
Short name:
Protein AIM-1
Solute carrier family 45 member 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SLC45A2
Synonyms:AIM1, MATP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000164175.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16472 SLC45A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606202 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UMX9

<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_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 46CytoplasmicSequence analysisAdd BLAST46
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei47 – 67Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini68ExtracellularSequence analysis1
Transmembranei69 – 89Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini90 – 110CytoplasmicSequence analysisAdd BLAST21
Transmembranei111 – 131Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini132 – 138ExtracellularSequence analysis7
Transmembranei139 – 159Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini160 – 184CytoplasmicSequence analysisAdd BLAST25
Transmembranei185 – 205Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini206 – 216ExtracellularSequence analysisAdd BLAST11
Transmembranei217 – 237Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini238 – 318CytoplasmicSequence analysisAdd BLAST81
Transmembranei319 – 339Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini340 – 366ExtracellularSequence analysisAdd BLAST27
Transmembranei367 – 387Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini388 – 398CytoplasmicSequence analysisAdd BLAST11
Transmembranei399 – 419Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini420 – 425ExtracellularSequence analysis6
Transmembranei426 – 446Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini447 – 477CytoplasmicSequence analysisAdd BLAST31
Transmembranei478 – 498Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini499 – 504ExtracellularSequence analysis6
Transmembranei505 – 525Helical; Name=12Sequence analysisAdd BLAST21
Topological domaini526 – 530CytoplasmicSequence analysis5

Keywords - Cellular componenti

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

Albinism, oculocutaneous, 4 (OCA4)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.
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_06707142M → I in OCA4. 1 Publication1
Natural variantiVAR_02271058P → A in OCA4. 1 PublicationCorresponds to variant dbSNP:rs1290584600Ensembl.1
Natural variantiVAR_02271158P → S in OCA4. 1 Publication1
Natural variantiVAR_07260260L → R in OCA4. 1 PublicationCorresponds to variant dbSNP:rs925113610Ensembl.1
Natural variantiVAR_06707264G → S in OCA4. 1 Publication1
Natural variantiVAR_073166110G → R in OCA4. 1 PublicationCorresponds to variant dbSNP:rs762813061Ensembl.1
Natural variantiVAR_073167151L → P in OCA4. 1 Publication1
Natural variantiVAR_022712157D → N in OCA4. 4 PublicationsCorresponds to variant dbSNP:rs121912621EnsemblClinVar.1
Natural variantiVAR_073168160D → H in OCA4. 1 PublicationCorresponds to variant dbSNP:rs760780597Ensembl.1
Natural variantiVAR_022713188G → V in OCA4. 1 Publication1
Natural variantiVAR_022714202W → C in OCA4. 1 PublicationCorresponds to variant dbSNP:rs146802593EnsemblClinVar.1
Natural variantiVAR_022715221Missing in OCA4. 1 Publication1
Natural variantiVAR_073169233H → Q in OCA4. 1 Publication1
Natural variantiVAR_067073302T → S in OCA4. 1 PublicationCorresponds to variant dbSNP:rs553073635Ensembl.1
Natural variantiVAR_022717317Y → C in OCA4. 1 Publication1
Natural variantiVAR_067074348R → C in OCA4. 1 PublicationCorresponds to variant dbSNP:rs372465070Ensembl.1
Natural variantiVAR_073170349G → R in OCA4. 1 PublicationCorresponds to variant dbSNP:rs146930801Ensembl.1
Natural variantiVAR_022718361L → P in OCA4. 1 PublicationCorresponds to variant dbSNP:rs121912619EnsemblClinVar.1
Natural variantiVAR_073171368E → K in OCA4. 1 PublicationCorresponds to variant dbSNP:rs1307137184Ensembl.1
Natural variantiVAR_073172418F → L in OCA4. 1 PublicationCorresponds to variant dbSNP:rs144503724Ensembl.1
Natural variantiVAR_022719477A → T in OCA4. 1 PublicationCorresponds to variant dbSNP:rs1352999116Ensembl.1
Natural variantiVAR_022720486A → V in OCA4. 1 PublicationCorresponds to variant dbSNP:rs121912620EnsemblClinVar.1

Keywords - Diseasei

Albinism, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
51151

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

More...
GeneReviewsi
SLC45A2

MalaCards human disease database

More...
MalaCardsi
SLC45A2
MIMi227240 phenotype
606574 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164175

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

More...
Orphaneti
79435 Oculocutaneous albinism type 4

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134897756

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UMX9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC45A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
145572854

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001225171 – 530Membrane-associated transporter proteinAdd BLAST530

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi356N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q9UMX9

PeptideAtlas

More...
PeptideAtlasi
Q9UMX9

PRoteomics IDEntifications database

More...
PRIDEi
Q9UMX9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85224 [Q9UMX9-1]
85225 [Q9UMX9-2]
85226 [Q9UMX9-3]
85227 [Q9UMX9-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UMX9

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

More...
PhosphoSitePlusi
Q9UMX9

<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

Expressed in most melanoma cell lines and melanocytes.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164175 Expressed in 57 organ(s), highest expression level in pigmented layer of retina

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UMX9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UMX9 HS

<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
119335, 16 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000296589

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9UMX9 protein

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0637 Eukaryota
ENOG410XPTR LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182914

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000128553

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UMX9

KEGG Orthology (KO)

More...
KOi
K15378

Identification of Orthologs from Complete Genome Data

More...
OMAi
VSMEPFR

Database of Orthologous Groups

More...
OrthoDBi
1230185at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UMX9

TreeFam database of animal gene trees

More...
TreeFami
TF325412

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036259 MFS_trans_sf

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473 SSF103473, 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_length">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 describes 4 <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
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UMX9-1) [UniParc]FASTAAdd to basket
Also known as: AIM-1a

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
MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA
60 70 80 90 100
VEAAYVTPVL LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG
110 120 130 140 150
RRRPYILTLG VMMLVGMALY LNGATVVAAL IANPRRKLVW AISVTMIGVV
160 170 180 190 200
LFDFAADFID GPIKAYLFDV CSHQDKEKGL HYHALFTGFG GALGYLLGAI
210 220 230 240 250
DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA PLTEVAKGIP
260 270 280 290 300
PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA
310 320 330 340 350
MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD
360 370 380 390 400
PYSAHNSTEF LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL
410 420 430 440 450
YFTGYLLFGL GTGFIGLFPN VYSTLVLCSL FGVMSSTLYT VPFNLITEYH
460 470 480 490 500
REEEKERQQA PGGDPDNSVR GKGMDCATLT CMVQLAQILV GGGLGFLVNT
510 520 530
AGTVVVVVIT ASAVALIGCC FVALFVRYVD
Length:530
Mass (Da):58,268
Last modified:March 6, 2007 - v2
<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:i11AA45A24EC1B35B
GO
Isoform 2 (identifier: Q9UMX9-2) [UniParc]FASTAAdd to basket
Also known as: AIM-1b

The sequence of this isoform differs from the canonical sequence as follows:
     188-295: Missing.
     386-406: YFQKVLVSYIGLKGLYFTGYL → CKSFSLLRMSSKSFWSSTTWI
     407-530: Missing.

Show »
Length:298
Mass (Da):33,481
Checksum:i7287F068BADB65DE
GO
Isoform 3 (identifier: Q9UMX9-3) [UniParc]FASTAAdd to basket
Also known as: AIM-1c

The sequence of this isoform differs from the canonical sequence as follows:
     129-187: Missing.

Show »
Length:471
Mass (Da):51,622
Checksum:i4C5632A7C7917BCE
GO
Isoform 4 (identifier: Q9UMX9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     457-460: RQQA → VCCH
     461-530: Missing.

Show »
Length:460
Mass (Da):51,200
Checksum:i2C30B5DAE98C19BD
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RGY6D6RGY6_HUMAN
Membrane-associated transporter pro...
SLC45A2
243Annotation 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>
D6RBP8D6RBP8_HUMAN
Membrane-associated transporter pro...
SLC45A2
246Annotation 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>
A0A0G2JQI6A0A0G2JQI6_HUMAN
Membrane-associated transporter pro...
SLC45A2
164Annotation 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>
A0A0G2JSD6A0A0G2JSD6_HUMAN
Membrane-associated transporter pro...
SLC45A2
234Annotation 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>
A0A0G2JSC7A0A0G2JSC7_HUMAN
Membrane-associated transporter pro...
SLC45A2
125Annotation 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>
A0A0G2JQN1A0A0G2JQN1_HUMAN
Membrane-associated transporter pro...
SLC45A2
56Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH03597 differs from that shown. Reason: Frameshift.Curated

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIMi:227240]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06707142M → I in OCA4. 1 Publication1
Natural variantiVAR_02271058P → A in OCA4. 1 PublicationCorresponds to variant dbSNP:rs1290584600Ensembl.1
Natural variantiVAR_02271158P → S in OCA4. 1 Publication1
Natural variantiVAR_07260260L → R in OCA4. 1 PublicationCorresponds to variant dbSNP:rs925113610Ensembl.1
Natural variantiVAR_06707264G → S in OCA4. 1 Publication1
Natural variantiVAR_073166110G → R in OCA4. 1 PublicationCorresponds to variant dbSNP:rs762813061Ensembl.1
Natural variantiVAR_073167151L → P in OCA4. 1 Publication1
Natural variantiVAR_022712157D → N in OCA4. 4 PublicationsCorresponds to variant dbSNP:rs121912621EnsemblClinVar.1
Natural variantiVAR_073168160D → H in OCA4. 1 PublicationCorresponds to variant dbSNP:rs760780597Ensembl.1
Natural variantiVAR_022713188G → V in OCA4. 1 Publication1
Natural variantiVAR_022714202W → C in OCA4. 1 PublicationCorresponds to variant dbSNP:rs146802593EnsemblClinVar.1
Natural variantiVAR_022715221Missing in OCA4. 1 Publication1
Natural variantiVAR_073169233H → Q in OCA4. 1 Publication1
Natural variantiVAR_022716272E → K Polymorphism; associated with variability of hair, eye and skin pigmentation; in Caucasians associated with dark hair, skin and eye color; strong protective effect for melanoma risk. 7 PublicationsCorresponds to variant dbSNP:rs26722EnsemblClinVar.1
Natural variantiVAR_067073302T → S in OCA4. 1 PublicationCorresponds to variant dbSNP:rs553073635Ensembl.1
Natural variantiVAR_022717317Y → C in OCA4. 1 Publication1
Natural variantiVAR_067074348R → C in OCA4. 1 PublicationCorresponds to variant dbSNP:rs372465070Ensembl.1
Natural variantiVAR_073170349G → R in OCA4. 1 PublicationCorresponds to variant dbSNP:rs146930801Ensembl.1
Natural variantiVAR_022718361L → P in OCA4. 1 PublicationCorresponds to variant dbSNP:rs121912619EnsemblClinVar.1
Natural variantiVAR_073171368E → K in OCA4. 1 PublicationCorresponds to variant dbSNP:rs1307137184Ensembl.1
Natural variantiVAR_012162374L → F Common polymorphism; associated with variability of hair, eye and skin pigmentation; in Caucasians associated with dark hair, skin and eye color; strong protective effect for melanoma risk. 11 PublicationsCorresponds to variant dbSNP:rs16891982EnsemblClinVar.1
Natural variantiVAR_073172418F → L in OCA4. 1 PublicationCorresponds to variant dbSNP:rs144503724Ensembl.1
Natural variantiVAR_022719477A → T in OCA4. 1 PublicationCorresponds to variant dbSNP:rs1352999116Ensembl.1
Natural variantiVAR_022720486A → V in OCA4. 1 PublicationCorresponds to variant dbSNP:rs121912620EnsemblClinVar.1
Natural variantiVAR_022721500T → P1 PublicationCorresponds to variant dbSNP:rs11568737Ensembl.1
Natural variantiVAR_022722507V → L2 PublicationsCorresponds to variant dbSNP:rs3733808Ensembl.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_006296129 – 187Missing in isoform 3. CuratedAdd BLAST59
Alternative sequenceiVSP_006297188 – 295Missing in isoform 2. 1 PublicationAdd BLAST108
Alternative sequenceiVSP_006298386 – 406YFQKV…FTGYL → CKSFSLLRMSSKSFWSSTTW I in isoform 2. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_006299407 – 530Missing in isoform 2. 1 PublicationAdd BLAST124
Alternative sequenceiVSP_041220457 – 460RQQA → VCCH in isoform 4. 1 Publication4
Alternative sequenceiVSP_041221461 – 530Missing in isoform 4. 1 PublicationAdd BLAST70

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
AF172849 mRNA Translation: AAD51812.1
AC139777 Genomic DNA No translation available.
AC139783 Genomic DNA No translation available.
BC003597 mRNA Translation: AAH03597.1 Frameshift.
BC064405 mRNA Translation: AAH64405.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3901.1 [Q9UMX9-1]
CCDS43308.1 [Q9UMX9-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001012527.1, NM_001012509.3 [Q9UMX9-4]
NP_001284346.2, NM_001297417.2
NP_057264.3, NM_016180.4 [Q9UMX9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000296589; ENSP00000296589; ENSG00000164175 [Q9UMX9-1]
ENST00000382102; ENSP00000371534; ENSG00000164175 [Q9UMX9-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51151

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51151

UCSC genome browser

More...
UCSCi
uc003jid.4 human [Q9UMX9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the MATP gene

Retina International's Scientific Newsletter

Albinism database (ADB)

SLC45A2 mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF172849 mRNA Translation: AAD51812.1
AC139777 Genomic DNA No translation available.
AC139783 Genomic DNA No translation available.
BC003597 mRNA Translation: AAH03597.1 Frameshift.
BC064405 mRNA Translation: AAH64405.1
CCDSiCCDS3901.1 [Q9UMX9-1]
CCDS43308.1 [Q9UMX9-4]
RefSeqiNP_001012527.1, NM_001012509.3 [Q9UMX9-4]
NP_001284346.2, NM_001297417.2
NP_057264.3, NM_016180.4 [Q9UMX9-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi119335, 16 interactors
STRINGi9606.ENSP00000296589

Protein family/group databases

TCDBi2.A.2.4.9 the glycoside-pentoside-hexuronide (gph):cation symporter family

PTM databases

iPTMnetiQ9UMX9
PhosphoSitePlusiQ9UMX9

Polymorphism and mutation databases

BioMutaiSLC45A2
DMDMi145572854

Proteomic databases

PaxDbiQ9UMX9
PeptideAtlasiQ9UMX9
PRIDEiQ9UMX9
ProteomicsDBi85224 [Q9UMX9-1]
85225 [Q9UMX9-2]
85226 [Q9UMX9-3]
85227 [Q9UMX9-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
51151

Genome annotation databases

EnsembliENST00000296589; ENSP00000296589; ENSG00000164175 [Q9UMX9-1]
ENST00000382102; ENSP00000371534; ENSG00000164175 [Q9UMX9-4]
GeneIDi51151
KEGGihsa:51151
UCSCiuc003jid.4 human [Q9UMX9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51151
DisGeNETi51151
EuPathDBiHostDB:ENSG00000164175.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC45A2
GeneReviewsiSLC45A2
HGNCiHGNC:16472 SLC45A2
MalaCardsiSLC45A2
MIMi227240 phenotype
606202 gene
606574 phenotype
neXtProtiNX_Q9UMX9
OpenTargetsiENSG00000164175
Orphaneti79435 Oculocutaneous albinism type 4
PharmGKBiPA134897756

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0637 Eukaryota
ENOG410XPTR LUCA
GeneTreeiENSGT00950000182914
HOGENOMiHOG000128553
InParanoidiQ9UMX9
KOiK15378
OMAiVSMEPFR
OrthoDBi1230185at2759
PhylomeDBiQ9UMX9
TreeFamiTF325412

Enzyme and pathway databases

ReactomeiR-HSA-5662702 Melanin biosynthesis

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SLC45A2

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

More...
GenomeRNAii
51151
PharosiQ9UMX9 Tbio

Protein Ontology

More...
PROi
PR:Q9UMX9
RNActiQ9UMX9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164175 Expressed in 57 organ(s), highest expression level in pigmented layer of retina
ExpressionAtlasiQ9UMX9 baseline and differential
GenevisibleiQ9UMX9 HS

Family and domain databases

InterProiView protein in InterPro
IPR036259 MFS_trans_sf
SUPFAMiSSF103473 SSF103473, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiS45A2_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: Q9UMX9
Secondary accession number(s): Q6P2P0, Q9BTM3
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: March 6, 2007
Last modified: December 11, 2019
This is version 164 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again