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Protein

Membrane-associated transporter protein

Gene

SLC45A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Melanin biosynthesis, Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164175-MONOMER.
ReactomeiR-HSA-5662702. Melanin biosynthesis.

Protein family/group databases

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

Names & Taxonomyi

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
Gene namesi
Name:SLC45A2
Synonyms:AIM1, MATP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:16472. SLC45A2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 46CytoplasmicSequence analysisAdd BLAST46
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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Albinism, oculocutaneous, 4 (OCA4)8 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.
See also OMIM:606574
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06707142M → I in OCA4. 1 Publication1
Natural variantiVAR_02271058P → A in OCA4. 1 Publication1
Natural variantiVAR_02271158P → S in OCA4. 1 Publication1
Natural variantiVAR_07260260L → R in OCA4. 1 Publication1
Natural variantiVAR_06707264G → S in OCA4. 1 Publication1
Natural variantiVAR_073166110G → R in OCA4. 1 PublicationCorresponds to variant rs762813061dbSNPEnsembl.1
Natural variantiVAR_073167151L → P in OCA4. 1 Publication1
Natural variantiVAR_022712157D → N in OCA4. 4 PublicationsCorresponds to variant rs121912621dbSNPEnsembl.1
Natural variantiVAR_073168160D → H in OCA4. 1 Publication1
Natural variantiVAR_022713188G → V in OCA4. 1 Publication1
Natural variantiVAR_022714202W → C in OCA4. 1 PublicationCorresponds to variant rs146802593dbSNPEnsembl.1
Natural variantiVAR_022715221Missing in OCA4. 1 Publication1
Natural variantiVAR_073169233H → Q in OCA4. 1 Publication1
Natural variantiVAR_022716272E → K Associated with SHEP5 and OCA4; significantly associated with dark hair, skin and eye color in Caucasians; in malignant melanoma; strong protective effect for melanoma risk. 7 PublicationsCorresponds to variant rs26722dbSNPEnsembl.1
Natural variantiVAR_067073302T → S in OCA4. 1 PublicationCorresponds to variant rs553073635dbSNPEnsembl.1
Natural variantiVAR_022717317Y → C in OCA4. 1 Publication1
Natural variantiVAR_067074348R → C in OCA4. 1 PublicationCorresponds to variant rs372465070dbSNPEnsembl.1
Natural variantiVAR_073170349G → R in OCA4. 1 PublicationCorresponds to variant rs146930801dbSNPEnsembl.1
Natural variantiVAR_022718361L → P in OCA4. 1 PublicationCorresponds to variant rs28939380dbSNPEnsembl.1
Natural variantiVAR_073171368E → K in OCA4. 1 Publication1
Natural variantiVAR_073172418F → L in OCA4. 1 PublicationCorresponds to variant rs144503724dbSNPEnsembl.1
Natural variantiVAR_022719477A → T in OCA4. 1 Publication1
Natural variantiVAR_022720486A → V in OCA4. 1 PublicationCorresponds to variant rs121912620dbSNPEnsembl.1

Keywords - Diseasei

Albinism, Disease mutation

Organism-specific databases

DisGeNETi51151.
MalaCardsiSLC45A2.
MIMi227240. phenotype.
606574. phenotype.
OpenTargetsiENSG00000164175.
Orphaneti79435. Oculocutaneous albinism type 4.
PharmGKBiPA134897756.

Polymorphism and mutation databases

BioMutaiSLC45A2.
DMDMi145572854.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001225171 – 530Membrane-associated transporter proteinAdd BLAST530

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi356N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9UMX9.
PeptideAtlasiQ9UMX9.
PRIDEiQ9UMX9.

PTM databases

iPTMnetiQ9UMX9.
PhosphoSitePlusiQ9UMX9.

Expressioni

Tissue specificityi

Expressed in most melanoma cell lines and melanocytes.

Gene expression databases

BgeeiENSG00000164175.
CleanExiHS_AIM1.
HS_SLC45A2.
ExpressionAtlasiQ9UMX9. baseline and differential.
GenevisibleiQ9UMX9. HS.

Interactioni

Protein-protein interaction databases

BioGridi119335. 12 interactors.
STRINGi9606.ENSP00000296589.

Structurei

3D structure databases

ProteinModelPortaliQ9UMX9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0637. Eukaryota.
ENOG410XPTR. LUCA.
GeneTreeiENSGT00390000018882.
HOGENOMiHOG000128553.
HOVERGENiHBG018570.
InParanoidiQ9UMX9.
KOiK15378.
OMAiTSFGVMS.
OrthoDBiEOG091G05H5.
PhylomeDBiQ9UMX9.
TreeFamiTF325412.

Family and domain databases

InterProiIPR020846. MFS_dom.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 2 hits.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9UMX9-1) [UniParc]FASTAAdd to basket
Also known as: AIM-1a

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
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

Sequence cautioni

The sequence AAH03597 differs from that shown. Reason: Frameshift at position 188.Curated

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 Publication1
Natural variantiVAR_02271158P → S in OCA4. 1 Publication1
Natural variantiVAR_07260260L → R in OCA4. 1 Publication1
Natural variantiVAR_06707264G → S in OCA4. 1 Publication1
Natural variantiVAR_073166110G → R in OCA4. 1 PublicationCorresponds to variant rs762813061dbSNPEnsembl.1
Natural variantiVAR_073167151L → P in OCA4. 1 Publication1
Natural variantiVAR_022712157D → N in OCA4. 4 PublicationsCorresponds to variant rs121912621dbSNPEnsembl.1
Natural variantiVAR_073168160D → H in OCA4. 1 Publication1
Natural variantiVAR_022713188G → V in OCA4. 1 Publication1
Natural variantiVAR_022714202W → C in OCA4. 1 PublicationCorresponds to variant rs146802593dbSNPEnsembl.1
Natural variantiVAR_022715221Missing in OCA4. 1 Publication1
Natural variantiVAR_073169233H → Q in OCA4. 1 Publication1
Natural variantiVAR_022716272E → K Associated with SHEP5 and OCA4; significantly associated with dark hair, skin and eye color in Caucasians; in malignant melanoma; strong protective effect for melanoma risk. 7 PublicationsCorresponds to variant rs26722dbSNPEnsembl.1
Natural variantiVAR_067073302T → S in OCA4. 1 PublicationCorresponds to variant rs553073635dbSNPEnsembl.1
Natural variantiVAR_022717317Y → C in OCA4. 1 Publication1
Natural variantiVAR_067074348R → C in OCA4. 1 PublicationCorresponds to variant rs372465070dbSNPEnsembl.1
Natural variantiVAR_073170349G → R in OCA4. 1 PublicationCorresponds to variant rs146930801dbSNPEnsembl.1
Natural variantiVAR_022718361L → P in OCA4. 1 PublicationCorresponds to variant rs28939380dbSNPEnsembl.1
Natural variantiVAR_073171368E → K in OCA4. 1 Publication1
Natural variantiVAR_012162374L → F Common polymorphism; associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians; in malignant melanoma; strong protective effect for melanoma risk. 11 PublicationsCorresponds to variant rs16891982dbSNPEnsembl.1
Natural variantiVAR_073172418F → L in OCA4. 1 PublicationCorresponds to variant rs144503724dbSNPEnsembl.1
Natural variantiVAR_022719477A → T in OCA4. 1 Publication1
Natural variantiVAR_022720486A → V in OCA4. 1 PublicationCorresponds to variant rs121912620dbSNPEnsembl.1
Natural variantiVAR_022721500T → P.1 PublicationCorresponds to variant rs11568737dbSNPEnsembl.1
Natural variantiVAR_022722507V → L.2 PublicationsCorresponds to variant rs3733808dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.
NP_001284346.2. NM_001297417.2.
NP_057264.3. NM_016180.4.
UniGeneiHs.278962.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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.
NP_001284346.2. NM_001297417.2.
NP_057264.3. NM_016180.4.
UniGeneiHs.278962.

3D structure databases

ProteinModelPortaliQ9UMX9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119335. 12 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.

Protocols and materials databases

DNASUi51151.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51151.
DisGeNETi51151.
GeneCardsiSLC45A2.
GeneReviewsiSLC45A2.
HGNCiHGNC:16472. SLC45A2.
MalaCardsiSLC45A2.
MIMi227240. phenotype.
606202. gene.
606574. phenotype.
neXtProtiNX_Q9UMX9.
OpenTargetsiENSG00000164175.
Orphaneti79435. Oculocutaneous albinism type 4.
PharmGKBiPA134897756.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0637. Eukaryota.
ENOG410XPTR. LUCA.
GeneTreeiENSGT00390000018882.
HOGENOMiHOG000128553.
HOVERGENiHBG018570.
InParanoidiQ9UMX9.
KOiK15378.
OMAiTSFGVMS.
OrthoDBiEOG091G05H5.
PhylomeDBiQ9UMX9.
TreeFamiTF325412.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164175-MONOMER.
ReactomeiR-HSA-5662702. Melanin biosynthesis.

Miscellaneous databases

GeneWikiiSLC45A2.
GenomeRNAii51151.
PROiQ9UMX9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164175.
CleanExiHS_AIM1.
HS_SLC45A2.
ExpressionAtlasiQ9UMX9. baseline and differential.
GenevisibleiQ9UMX9. HS.

Family and domain databases

InterProiIPR020846. MFS_dom.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiS45A2_HUMAN
AccessioniPrimary (citable) accession number: Q9UMX9
Secondary accession number(s): Q6P2P0, Q9BTM3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: March 6, 2007
Last modified: November 30, 2016
This is version 143 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.