Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9UMX9

- S45A2_HUMAN

UniProt

Q9UMX9 - S45A2_HUMAN

Protein

Membrane-associated transporter protein

Gene

SLC45A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 2 (06 Mar 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

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

    GO - Biological processi

    1. developmental pigmentation Source: Ensembl
    2. melanin biosynthetic process Source: UniProtKB-KW
    3. response to stimulus Source: UniProtKB-KW
    4. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Melanin biosynthesis, Sensory transduction, Vision

    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
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:16472. SLC45A2.

    Subcellular locationi

    Melanosome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. melanosome membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421M → I in OCA4. 1 Publication
    VAR_067071
    Natural varianti58 – 581P → A in OCA4. 1 Publication
    VAR_022710
    Natural varianti58 – 581P → S in OCA4. 1 Publication
    VAR_022711
    Natural varianti64 – 641G → S in OCA4. 1 Publication
    VAR_067072
    Natural varianti157 – 1571D → N in OCA4. 3 Publications
    VAR_022712
    Natural varianti188 – 1881G → V in OCA4. 1 Publication
    VAR_022713
    Natural varianti202 – 2021W → C in OCA4. 1 Publication
    VAR_022714
    Natural varianti221 – 2211Missing in OCA4. 1 Publication
    VAR_022715
    Natural varianti302 – 3021T → S in OCA4. 1 Publication
    VAR_067073
    Natural varianti317 – 3171Y → C in OCA4. 1 Publication
    VAR_022717
    Natural varianti348 – 3481R → C in OCA4. 1 Publication
    VAR_067074
    Natural varianti361 – 3611L → P in OCA4. 1 Publication
    Corresponds to variant rs28939380 [ dbSNP | Ensembl ].
    VAR_022718
    Natural varianti477 – 4771A → T in OCA4. 1 Publication
    VAR_022719
    Natural varianti486 – 4861A → V in OCA4. 1 Publication
    VAR_022720

    Keywords - Diseasei

    Albinism, Disease mutation

    Organism-specific databases

    MIMi227240. phenotype.
    606574. phenotype.
    Orphaneti79435. Oculocutaneous albinism type 4.
    PharmGKBiPA134897756.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 530530Membrane-associated transporter proteinPRO_0000122517Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi356 – 3561N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9UMX9.
    PRIDEiQ9UMX9.

    PTM databases

    PhosphoSiteiQ9UMX9.

    Expressioni

    Tissue specificityi

    Expressed in most melanoma cell lines and melanocytes.

    Gene expression databases

    ArrayExpressiQ9UMX9.
    BgeeiQ9UMX9.
    CleanExiHS_AIM1.
    HS_SLC45A2.
    GenevestigatoriQ9UMX9.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000296589.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UMX9.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4646CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini68 – 681ExtracellularSequence Analysis
    Topological domaini90 – 11021CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini132 – 1387ExtracellularSequence Analysis
    Topological domaini160 – 18425CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini206 – 21611ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini238 – 31881CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini340 – 36627ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini388 – 39811CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini420 – 4256ExtracellularSequence Analysis
    Topological domaini447 – 47731CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini499 – 5046ExtracellularSequence Analysis
    Topological domaini526 – 5305CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei47 – 6721Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei69 – 8921Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei111 – 13121Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei139 – 15921Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei185 – 20521Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei217 – 23721Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei319 – 33921Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei367 – 38721Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei399 – 41921Helical; Name=9Sequence AnalysisAdd
    BLAST
    Transmembranei426 – 44621Helical; Name=10Sequence AnalysisAdd
    BLAST
    Transmembranei478 – 49821Helical; Name=11Sequence AnalysisAdd
    BLAST
    Transmembranei505 – 52521Helical; Name=12Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG317436.
    HOGENOMiHOG000128553.
    HOVERGENiHBG018570.
    InParanoidiQ9UMX9.
    KOiK15378.
    OMAiMGGNSGQ.
    OrthoDBiEOG7Z0JW6.
    PhylomeDBiQ9UMX9.
    TreeFamiTF325412.

    Family and domain databases

    InterProiIPR016196. MFS_dom_general_subst_transpt.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 2 hits.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    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

    MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA    50
    VEAAYVTPVL LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG 100
    RRRPYILTLG VMMLVGMALY LNGATVVAAL IANPRRKLVW AISVTMIGVV 150
    LFDFAADFID GPIKAYLFDV CSHQDKEKGL HYHALFTGFG GALGYLLGAI 200
    DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA PLTEVAKGIP 250
    PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA 300
    MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD 350
    PYSAHNSTEF LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL 400
    YFTGYLLFGL GTGFIGLFPN VYSTLVLCSL FGVMSSTLYT VPFNLITEYH 450
    REEEKERQQA PGGDPDNSVR GKGMDCATLT CMVQLAQILV GGGLGFLVNT 500
    AGTVVVVVIT ASAVALIGCC FVALFVRYVD 530
    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 AAH03597.1 differs from that shown. Reason: Frameshift at position 188.

    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421M → I in OCA4. 1 Publication
    VAR_067071
    Natural varianti58 – 581P → A in OCA4. 1 Publication
    VAR_022710
    Natural varianti58 – 581P → S in OCA4. 1 Publication
    VAR_022711
    Natural varianti64 – 641G → S in OCA4. 1 Publication
    VAR_067072
    Natural varianti157 – 1571D → N in OCA4. 3 Publications
    VAR_022712
    Natural varianti188 – 1881G → V in OCA4. 1 Publication
    VAR_022713
    Natural varianti202 – 2021W → C in OCA4. 1 Publication
    VAR_022714
    Natural varianti221 – 2211Missing in OCA4. 1 Publication
    VAR_022715
    Natural varianti272 – 2721E → K Associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians. 5 Publications
    Corresponds to variant rs26722 [ dbSNP | Ensembl ].
    VAR_022716
    Natural varianti302 – 3021T → S in OCA4. 1 Publication
    VAR_067073
    Natural varianti317 – 3171Y → C in OCA4. 1 Publication
    VAR_022717
    Natural varianti348 – 3481R → C in OCA4. 1 Publication
    VAR_067074
    Natural varianti361 – 3611L → P in OCA4. 1 Publication
    Corresponds to variant rs28939380 [ dbSNP | Ensembl ].
    VAR_022718
    Natural varianti374 – 3741L → F Common polymorphism; associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians. 9 Publications
    Corresponds to variant rs16891982 [ dbSNP | Ensembl ].
    VAR_012162
    Natural varianti477 – 4771A → T in OCA4. 1 Publication
    VAR_022719
    Natural varianti486 – 4861A → V in OCA4. 1 Publication
    VAR_022720
    Natural varianti500 – 5001T → P.1 Publication
    Corresponds to variant rs11568737 [ dbSNP | Ensembl ].
    VAR_022721
    Natural varianti507 – 5071V → L.2 Publications
    Corresponds to variant rs3733808 [ dbSNP | Ensembl ].
    VAR_022722

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei129 – 18759Missing in isoform 3. CuratedVSP_006296Add
    BLAST
    Alternative sequencei188 – 295108Missing in isoform 2. 1 PublicationVSP_006297Add
    BLAST
    Alternative sequencei386 – 40621YFQKV…FTGYL → CKSFSLLRMSSKSFWSSTTW I in isoform 2. 1 PublicationVSP_006298Add
    BLAST
    Alternative sequencei407 – 530124Missing in isoform 2. 1 PublicationVSP_006299Add
    BLAST
    Alternative sequencei457 – 4604RQQA → VCCH in isoform 4. 1 PublicationVSP_041220
    Alternative sequencei461 – 53070Missing in isoform 4. 1 PublicationVSP_041221Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_001012509.2.
    NP_057264.3. NM_016180.3.
    UniGeneiHs.278962.

    Genome annotation databases

    EnsembliENST00000296589; ENSP00000296589; ENSG00000164175. [Q9UMX9-1]
    ENST00000382102; ENSP00000371534; ENSG00000164175. [Q9UMX9-4]
    GeneIDi51151.
    KEGGihsa:51151.
    UCSCiuc003jid.3. human. [Q9UMX9-1]
    uc003jie.3. human. [Q9UMX9-4]

    Polymorphism databases

    DMDMi145572854.

    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS3901.1. [Q9UMX9-1 ]
    CCDS43308.1. [Q9UMX9-4 ]
    RefSeqi NP_001012527.1. NM_001012509.2.
    NP_057264.3. NM_016180.3.
    UniGenei Hs.278962.

    3D structure databases

    ProteinModelPortali Q9UMX9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000296589.

    Protein family/group databases

    TCDBi 2.A.2.4.9. the glycoside-pentoside-hexuronide (gph):cation symporter family.

    PTM databases

    PhosphoSitei Q9UMX9.

    Polymorphism databases

    DMDMi 145572854.

    Proteomic databases

    PaxDbi Q9UMX9.
    PRIDEi Q9UMX9.

    Protocols and materials databases

    DNASUi 51151.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296589 ; ENSP00000296589 ; ENSG00000164175 . [Q9UMX9-1 ]
    ENST00000382102 ; ENSP00000371534 ; ENSG00000164175 . [Q9UMX9-4 ]
    GeneIDi 51151.
    KEGGi hsa:51151.
    UCSCi uc003jid.3. human. [Q9UMX9-1 ]
    uc003jie.3. human. [Q9UMX9-4 ]

    Organism-specific databases

    CTDi 51151.
    GeneCardsi GC05M033981.
    GeneReviewsi SLC45A2.
    HGNCi HGNC:16472. SLC45A2.
    MIMi 227240. phenotype.
    606202. gene.
    606574. phenotype.
    neXtProti NX_Q9UMX9.
    Orphaneti 79435. Oculocutaneous albinism type 4.
    PharmGKBi PA134897756.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG317436.
    HOGENOMi HOG000128553.
    HOVERGENi HBG018570.
    InParanoidi Q9UMX9.
    KOi K15378.
    OMAi MGGNSGQ.
    OrthoDBi EOG7Z0JW6.
    PhylomeDBi Q9UMX9.
    TreeFami TF325412.

    Miscellaneous databases

    GeneWikii SLC45A2.
    GenomeRNAii 51151.
    NextBioi 54040.
    PROi Q9UMX9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UMX9.
    Bgeei Q9UMX9.
    CleanExi HS_AIM1.
    HS_SLC45A2.
    Genevestigatori Q9UMX9.

    Family and domain databases

    InterProi IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 2 hits.
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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. 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. 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.

    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: October 1, 2014
    This is version 123 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

    External Data

    Dasty 3