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P58355

- S45A2_MOUSE

UniProt

P58355 - S45A2_MOUSE

Protein

Membrane-associated transporter protein

Gene

Slc45a2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (16 Nov 2001)
      Previous versions | rss
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    Functioni

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

    GO - Biological processi

    1. developmental pigmentation Source: MGI
    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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Membrane-associated transporter protein
    Alternative name(s):
    Melanoma antigen AIM1
    Short name:
    Protein AIM-1
    Protein underwhite
    Solute carrier family 45 member 2
    Gene namesi
    Name:Slc45a2
    Synonyms:Aim1, Matp, uw
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 15

    Organism-specific databases

    MGIiMGI:2153040. Slc45a2.

    Subcellular locationi

    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

    Defects in Slc45a2 are the cause of the UW-dbr phenotype that results in loss of nearly all pigmentation in the homozygous state.

    Keywords - Diseasei

    Albinism, Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 530530Membrane-associated transporter proteinPRO_0000122518Add
    BLAST

    Amino acid modifications

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

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PRIDEiP58355.

    PTM databases

    PhosphoSiteiP58355.

    Expressioni

    Tissue specificityi

    Melanocytes, eyes, kidney and uterus.

    Gene expression databases

    BgeeiP58355.
    CleanExiMM_SLC45A2.
    GenevestigatoriP58355.

    Interactioni

    Protein-protein interaction databases

    STRINGi10090.ENSMUSP00000022851.

    Structurei

    3D structure databases

    ProteinModelPortaliP58355.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4545CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini67 – 682ExtracellularSequence Analysis
    Topological domaini90 – 10516CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini127 – 13812ExtracellularSequence AnalysisAdd
    BLAST
    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
    Transmembranei46 – 6621Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei69 – 8921Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei106 – 12621Helical; 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.
    InParanoidiP58355.
    KOiK15378.
    OMAiMGGNSGQ.
    PhylomeDBiP58355.
    TreeFamiTF325412.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    P58355-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSGSNGPTDT HTYQSLAEDC PFGSVEQPKR STGRLVMHSM AMFGREFCYA    50
    VEAAYVTPVL LSVGLPKSLY SMVWLLSPIL GFLLQPVVGS ASDHCRARWG 100
    RRRPYILTLA IMMLLGMALY LNGDAVVSAL VANPRQKLIW AISITMVGVV 150
    LFDFSADFID GPIKAYLFDV CSHQDKEKGL HYHALFTGFG GALGYILGAI 200
    DWVHLDLGRL LGTEFQVMFF FSALVLILCF ITHLCSIPEA PLRDAATDPP 250
    SQQDPQGSSL SASGMHEYGS IEKVKNGGAD TEQPVQEWKN KKPSGQSQRT 300
    MSMKSLLRAL VNMPSHYRCL CVSHLIGWTA FLSNMLFFTD FMGQIVYHGD 350
    PYGAHNSTEF LIYERGVEVG CWGLCINSVF SSVYSYFQKA MVSYIGLKGL 400
    YFMGYLLFGL GTGFIGLFPN VYSTLVLCSM FGVMSSTLYT VPFNLIAEYH 450
    REEEKEKGQE APGGPDNQGR GKGVDCAALT CMVQLAQILV GGGLGFLVNM 500
    AGSVVVVVIT ASAVSLIGCC FVALFVRYVD 530
    Length:530
    Mass (Da):57,961
    Last modified:November 16, 2001 - v1
    Checksum:iF4EDEAD07916D9FC
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti153 – 1531D → N in UW-dbr. 1 Publication
    Natural varianti435 – 4351S → P in UW-dbr. 1 Publication

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF360357 mRNA. Translation: AAK81713.1.
    AK029155 mRNA. Translation: BAC26330.1.
    CCDSiCCDS27382.1.
    RefSeqiNP_444307.1. NM_053077.3.
    XP_006520111.1. XM_006520048.1.
    UniGeneiMm.138278.

    Genome annotation databases

    EnsembliENSMUST00000022851; ENSMUSP00000022851; ENSMUSG00000022243.
    GeneIDi22293.
    KEGGimmu:22293.
    UCSCiuc007vgx.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF360357 mRNA. Translation: AAK81713.1 .
    AK029155 mRNA. Translation: BAC26330.1 .
    CCDSi CCDS27382.1.
    RefSeqi NP_444307.1. NM_053077.3.
    XP_006520111.1. XM_006520048.1.
    UniGenei Mm.138278.

    3D structure databases

    ProteinModelPortali P58355.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 10090.ENSMUSP00000022851.

    PTM databases

    PhosphoSitei P58355.

    Proteomic databases

    PRIDEi P58355.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000022851 ; ENSMUSP00000022851 ; ENSMUSG00000022243 .
    GeneIDi 22293.
    KEGGi mmu:22293.
    UCSCi uc007vgx.1. mouse.

    Organism-specific databases

    CTDi 51151.
    MGIi MGI:2153040. Slc45a2.

    Phylogenomic databases

    eggNOGi NOG317436.
    HOGENOMi HOG000128553.
    HOVERGENi HBG018570.
    InParanoidi P58355.
    KOi K15378.
    OMAi MGGNSGQ.
    PhylomeDBi P58355.
    TreeFami TF325412.

    Miscellaneous databases

    ChiTaRSi SLC45A2. mouse.
    NextBioi 302439.
    PROi P58355.
    SOURCEi Search...

    Gene expression databases

    Bgeei P58355.
    CleanExi MM_SLC45A2.
    Genevestigatori P58355.

    Family and domain databases

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

    Publicationsi

    1. "Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka."
      Fukamachi S., Shimada A., Shima A.
      Nat. Genet. 28:381-385(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: ddY.
      Tissue: Eye, Kidney and Uterus.
    2. "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: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS UW-DBR ASN-153 AND PRO-435.
    3. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Skin.

    Entry informationi

    Entry nameiS45A2_MOUSE
    AccessioniPrimary (citable) accession number: P58355
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: November 16, 2001
    Last modified: October 1, 2014
    This is version 95 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3