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Q9UMX9 (S45A2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Membrane-associated transporter protein
Alternative name(s):
Melanoma antigen AIM1
Short name=Protein AIM-1
Solute carrier family 45 member 2
Gene names
Name:SLC45A2
Synonyms:AIM1, MATP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length530 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Melanosome membrane; Multi-pass membrane protein Ref.4.

Tissue specificity

Expressed in most melanoma cell lines and melanocytes.

Polymorphism

Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM: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.

Involvement in disease

Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6 Ref.7 Ref.9 Ref.13

Sequence similarities

Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. [View classification]

Sequence caution

The sequence AAH03597.1 differs from that shown. Reason: Frameshift at position 188.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9UMX9-1)

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.
Isoform 2 (identifier: Q9UMX9-2)

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.
Isoform 3 (identifier: Q9UMX9-3)

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.
Isoform 4 (identifier: Q9UMX9-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 530530Membrane-associated transporter protein
PRO_0000122517

Regions

Topological domain1 – 4646Cytoplasmic Potential
Transmembrane47 – 6721Helical; Name=1; Potential
Topological domain681Extracellular Potential
Transmembrane69 – 8921Helical; Name=2; Potential
Topological domain90 – 11021Cytoplasmic Potential
Transmembrane111 – 13121Helical; Name=3; Potential
Topological domain132 – 1387Extracellular Potential
Transmembrane139 – 15921Helical; Name=4; Potential
Topological domain160 – 18425Cytoplasmic Potential
Transmembrane185 – 20521Helical; Name=5; Potential
Topological domain206 – 21611Extracellular Potential
Transmembrane217 – 23721Helical; Name=6; Potential
Topological domain238 – 31881Cytoplasmic Potential
Transmembrane319 – 33921Helical; Name=7; Potential
Topological domain340 – 36627Extracellular Potential
Transmembrane367 – 38721Helical; Name=8; Potential
Topological domain388 – 39811Cytoplasmic Potential
Transmembrane399 – 41921Helical; Name=9; Potential
Topological domain420 – 4256Extracellular Potential
Transmembrane426 – 44621Helical; Name=10; Potential
Topological domain447 – 47731Cytoplasmic Potential
Transmembrane478 – 49821Helical; Name=11; Potential
Topological domain499 – 5046Extracellular Potential
Transmembrane505 – 52521Helical; Name=12; Potential
Topological domain526 – 5305Cytoplasmic Potential

Amino acid modifications

Glycosylation3561N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence129 – 18759Missing in isoform 3.
VSP_006296
Alternative sequence188 – 295108Missing in isoform 2.
VSP_006297
Alternative sequence386 – 40621YFQKV…FTGYL → CKSFSLLRMSSKSFWSSTTW I in isoform 2.
VSP_006298
Alternative sequence407 – 530124Missing in isoform 2.
VSP_006299
Alternative sequence457 – 4604RQQA → VCCH in isoform 4.
VSP_041220
Alternative sequence461 – 53070Missing in isoform 4.
VSP_041221
Natural variant421M → I in OCA4. Ref.13
VAR_067071
Natural variant581P → A in OCA4. Ref.7
VAR_022710
Natural variant581P → S in OCA4. Ref.6
VAR_022711
Natural variant641G → S in OCA4. Ref.13
VAR_067072
Natural variant1571D → N in OCA4. Ref.6 Ref.9 Ref.13
VAR_022712
Natural variant1881G → V in OCA4. Ref.6
VAR_022713
Natural variant2021W → C in OCA4. Ref.7
VAR_022714
Natural variant2211Missing in OCA4. Ref.7
VAR_022715
Natural variant2721E → K Associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians. Ref.6 Ref.7 Ref.8 Ref.10 Ref.13
Corresponds to variant rs26722 [ dbSNP | Ensembl ].
VAR_022716
Natural variant3021T → S in OCA4. Ref.13
VAR_067073
Natural variant3171Y → C in OCA4. Ref.7
VAR_022717
Natural variant3481R → C in OCA4. Ref.13
VAR_067074
Natural variant3611L → P in OCA4. Ref.7
Corresponds to variant rs28939380 [ dbSNP | Ensembl ].
VAR_022718
Natural variant3741L → F Common polymorphism; associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians. Ref.1 Ref.3 Ref.5 Ref.7 Ref.8 Ref.10 Ref.11 Ref.12 Ref.13
Corresponds to variant rs16891982 [ dbSNP | Ensembl ].
VAR_012162
Natural variant4771A → T in OCA4. Ref.7
VAR_022719
Natural variant4861A → V in OCA4. Ref.7
VAR_022720
Natural variant5001T → P. Ref.6
Corresponds to variant rs11568737 [ dbSNP | Ensembl ].
VAR_022721
Natural variant5071V → L. Ref.6 Ref.8
Corresponds to variant rs3733808 [ dbSNP | Ensembl ].
VAR_022722

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (AIM-1a) [UniParc].

Last modified March 6, 2007. Version 2.
Checksum: 11AA45A24EC1B35B

FASTA53058,268
        10         20         30         40         50         60 
MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL 

        70         80         90        100        110        120 
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY 

       130        140        150        160        170        180 
LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL 

       190        200        210        220        230        240 
HYHALFTGFG GALGYLLGAI DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA 

       250        260        270        280        290        300 
PLTEVAKGIP PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA 

       310        320        330        340        350        360 
MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD PYSAHNSTEF 

       370        380        390        400        410        420 
LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL YFTGYLLFGL GTGFIGLFPN 

       430        440        450        460        470        480 
VYSTLVLCSL FGVMSSTLYT VPFNLITEYH REEEKERQQA PGGDPDNSVR GKGMDCATLT 

       490        500        510        520        530 
CMVQLAQILV GGGLGFLVNT AGTVVVVVIT ASAVALIGCC FVALFVRYVD 

« Hide

Isoform 2 (AIM-1b) [UniParc].

Checksum: 7287F068BADB65DE
Show »

FASTA29833,481
Isoform 3 (AIM-1c) [UniParc].

Checksum: 4C5632A7C7917BCE
Show »

FASTA47151,622
Isoform 4 [UniParc].

Checksum: 2C30B5DAE98C19BD
Show »

FASTA46051,200

References

« Hide 'large scale' references
[1]"Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells."
Harada M., Li Y.F., El-Gamil M., Rosenberg S.A., Robbins P.F.
Cancer Res. 61:1089-1094(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PHE-374.
Tissue: Melanoma.
[2]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), VARIANT PHE-374.
Tissue: Skin.
[4]"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."
Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F.
J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Melanoma.
[5]"Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4."
Newton J.M., Cohen-Barak O., Hagiwara N., Gardner J.M., Davisson M.T., King R.A., Brilliant M.H.
Am. J. Hum. Genet. 69:981-988(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHE-374, INVOLVEMENT IN OCA4.
[6]"Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan."
Inagaki K., Suzuki T., Shimizu H., Ishii N., Umezawa Y., Tada J., Kikuchi N., Takata M., Takamori K., Kishibe M., Tanaka M., Miyamura Y., Ito S., Tomita Y.
Am. J. Hum. Genet. 74:466-471(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OCA4 SER-58; ASN-157 AND VAL-188, VARIANTS LYS-272; PRO-500 AND LEU-507.
[7]"Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4."
Rundshagen U., Zuehlke C., Opitz S., Schwinger E., Kaesmann-Kellner B.
Hum. Mutat. 23:106-110(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OCA4 ALA-58; CYS-202; PHE-221 DEL; CYS-317; PRO-361; THR-477 AND VAL-486, VARIANTS LYS-272 AND PHE-374.
[8]"MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids."
Yuasa I., Umetsu K., Watanabe G., Nakamura H., Endoh M., Irizawa Y.
Int. J. Legal Med. 118:364-366(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LYS-272; PHE-374 AND LEU-507.
[9]"A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene."
Suzuki T., Inagaki K., Fukai K., Obana A., Lee S.-T., Tomita Y.
Br. J. Dermatol. 152:174-175(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OCA4 ASN-157.
[10]"Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation."
Graf J., Hodgson R., van Daal A.
Hum. Mutat. 25:278-284(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LYS-272 AND PHE-374.
[11]"Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis."
Yuasa I., Umetsu K., Harihara S., Kido A., Miyoshi A., Saitou N., Dashnyam B., Jin F., Lucotte G., Chattopadhyay P.K., Henke L., Henke J.
Ann. Hum. Genet. 70:802-811(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHE-374.
[12]"A genomewide association study of skin pigmentation in a South Asian population."
Stokowski R.P., Pant P.V.K., Dadd T., Fereday A., Hinds D.A., Jarman C., Filsell W., Ginger R.S., Green M.R., van der Ouderaa F.J., Cox D.R.
Am. J. Hum. Genet. 81:1119-1132(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHE-374, ASSOCIATION WITH SHEP5.
[13]"SLC45A2 variations in Indian oculocutaneous albinism patients."
Sengupta M., Chaki M., Arti N., Ray K.
Mol. Vis. 13:1406-1411(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OCA4 ILE-42; SER-64; ASN-157; SER-302 AND CYS-348, VARIANTS LYS-272 AND PHE-374.
+Additional computationally mapped references.

Web resources

Mutations of the MATP gene

Retina International's Scientific Newsletter

Albinism database (ADB)

SLC45A2 mutations

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001012527.1. NM_001012509.2.
NP_057264.3. NM_016180.3.
UniGeneHs.278962.

3D structure databases

ProteinModelPortalQ9UMX9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000296589.

Protein family/group databases

TCDB2.A.2.4.9. the glycoside-pentoside-hexuronide (gph):cation symporter family.

PTM databases

PhosphoSiteQ9UMX9.

Polymorphism databases

DMDM145572854.

Proteomic databases

PaxDbQ9UMX9.
PRIDEQ9UMX9.

Protocols and materials databases

DNASU51151.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296589; ENSP00000296589; ENSG00000164175. [Q9UMX9-1]
ENST00000342059; ENSP00000341014; ENSG00000164175. [Q9UMX9-3]
ENST00000382102; ENSP00000371534; ENSG00000164175. [Q9UMX9-4]
GeneID51151.
KEGGhsa:51151.
UCSCuc003jid.3. human. [Q9UMX9-1]
uc003jie.3. human. [Q9UMX9-4]

Organism-specific databases

CTD51151.
GeneCardsGC05M033981.
HGNCHGNC:16472. SLC45A2.
MIM227240. phenotype.
606202. gene.
606574. phenotype.
neXtProtNX_Q9UMX9.
Orphanet79435. Oculocutaneous albinism type 4.
PharmGKBPA134897756.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG317436.
HOGENOMHOG000128553.
HOVERGENHBG018570.
InParanoidQ9UMX9.
KOK15378.
OMAMGGNSGQ.
OrthoDBEOG7Z0JW6.
PhylomeDBQ9UMX9.
TreeFamTF325412.

Gene expression databases

ArrayExpressQ9UMX9.
BgeeQ9UMX9.
CleanExHS_AIM1.
HS_SLC45A2.
GenevestigatorQ9UMX9.

Family and domain databases

InterProIPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
SUPFAMSSF103473. SSF103473. 2 hits.
ProtoNetSearch...

Other

GeneWikiSLC45A2.
GenomeRNAi51151.
NextBio54040.
PROQ9UMX9.
SOURCESearch...

Entry information

Entry nameS45A2_HUMAN
AccessionPrimary (citable) accession number: Q9UMX9
Secondary accession number(s): Q6P2P0, Q9BTM3
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: March 6, 2007
Last modified: April 16, 2014
This is version 121 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM