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2.A.2.4.9
Solute carrier family 45, member 2, Slc45A2, also called melanocyte-restricted antigen or melanoma antigen, PatP, Aim-1 or Aim1.  Transports sucrose with protons, possibly into vesicular structures that contain melanin.  Found in skin and hair; involved in pigmentation (Bartölke et al. 2014).  Defects give rise to oculocutaneous albinism (Meyer et al. 2011). One such mutation in dogs, G493D in TMS 11, gives rise to albinisms (Wijesena and Schmutz 2015). OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the solute carrier family 45, member 2 (SLC45A2) gene, and many mutations in this human gene have been identified (Inagaki et al. 2006; Tóth et al. 2017).

Accession Number:Q9UMX9
Protein Name:Membrane-associated transporter protein
Length:530
Molecular Weight:58268.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Melanosome membrane1 / Multi-pass membrane protein2
Substrate Sucrose

Cross database links:

Genevestigator: Q9UMX9 Q9UMX9
eggNOG: NOG317436 NOG317436
HEGENOM: HOG000128553 HOG000128553
Entrez Gene ID: 51151   
KEGG: hsa:51151    hsa:51151   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0033162 C:melanosome membrane
GO:0042438 P:melanin biosynthetic process
GO:0050896 P:response to stimulus
GO:0007601 P:visual perception
GO:0048066 P:developmental pigmentation

References (26)

[1] “Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells.”  Harada M.et.al.   11221837
[2] “The DNA sequence and comparative analysis of human chromosome 5.”  Schmutz J.et.al.   15372022
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.”  Chi A.et.al.   17081065
[5] “Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.”  Newton J.M.et.al.   11574907
[6] “Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.”  Inagaki K.et.al.   14961451
[7] “Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.”  Rundshagen U.et.al.   14722913
[8] “MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids.”  Yuasa I.et.al.   15455243
[9] “A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.”  Suzuki T.et.al.   15656822
[10] “Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.”  Graf J.et.al.   15714523
[11] “Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis.”  Yuasa I.et.al.   17044855
[12] “A genomewide association study of skin pigmentation in a South Asian population.”  Stokowski R.P.et.al.   17999355
[13] “SLC45A2 variations in Indian oculocutaneous albinism patients.”  Sengupta M.et.al.   17768386
[14] “Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells.”  Harada M.et.al.   11221837
[15] “The DNA sequence and comparative analysis of human chromosome 5.”  Schmutz J.et.al.   15372022
[16] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[17] “Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.”  Chi A.et.al.   17081065
[18] “Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.”  Newton J.M.et.al.   11574907
[19] “Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.”  Inagaki K.et.al.   14961451
[20] “Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.”  Rundshagen U.et.al.   14722913
[21] “MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids.”  Yuasa I.et.al.   15455243
[22] “A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.”  Suzuki T.et.al.   15656822
[23] “Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.”  Graf J.et.al.   15714523
[24] “Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis.”  Yuasa I.et.al.   17044855
[25] “A genomewide association study of skin pigmentation in a South Asian population.”  Stokowski R.P.et.al.   17999355
[26] “SLC45A2 variations in Indian oculocutaneous albinism patients.”  Sengupta M.et.al.   17768386

External Searches:

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  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL 
61:	LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY 
121:	LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL 
181:	HYHALFTGFG GALGYLLGAI DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA 
241:	PLTEVAKGIP PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA 
301:	MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD PYSAHNSTEF 
361:	LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL YFTGYLLFGL GTGFIGLFPN 
421:	VYSTLVLCSL FGVMSSTLYT VPFNLITEYH REEEKERQQA PGGDPDNSVR GKGMDCATLT 
481:	CMVQLAQILV GGGLGFLVNT AGTVVVVVIT ASAVALIGCC FVALFVRYVD