SLC45A2

Solute carrier family 45, member 2

Identifiers

SLC45A2; 1A1; AIM1; MATP; SHEP5

External IDs

OMIM: 606202 MGI: 2153040 HomoloGene: 9412 GeneCards: SLC45A2 Gene

Gene Ontology
Cellular component	• integral to membrane • melanosome membrane
Biological process	• visual perception • melanin biosynthetic process • developmental pigmentation • response to stimulus
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 5:
33.94 – 33.98 Mb

Chr 15:
11 – 11.03 Mb

PubMed search

[1]

[2]

Membrane-associated transporter protein (MATP) also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1 is a protein that in humans is encoded by the SLC45A2 gene.^[1]^[2]^[3]

1 Function
2 See also
3 References
4 External links
5 Further reading

Function [edit]

SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. A similar sequence gene in medaka, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.^[3]

In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.^[4]^[5]

SLC45A2 has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker (AIM) for determining Sri Lankan from European ancestry.^[6]

References [edit]

^ Nakayama K, Fukamachi S, Kimura H, Koda Y, Soemantri A, Ishida T (Mar 2002). "Distinctive distribution of AIM1 polymorphism among major human populations with different skin color". J Hum Genet 47 (2): 92–4. doi:10.1007/s100380200007. PMID 11916009.
^ Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH (Oct 2001). "Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4". Am J Hum Genet 69 (5): 981–8. doi:10.1086/324340. PMC 1274374. PMID 11574907.
^ ^a ^b "Entrez Gene: SLC45A2 solute carrier family 45, member 2".
^ Du J, Fisher DE (2002). "Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF". J. Biol. Chem. 277 (1): 402–6. doi:10.1074/jbc.M110229200. PMID 11700328.
^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
^ Soejama, Mikiko; Koda, Yoshida (2006), Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2

External links [edit]

GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4

Further reading [edit]

Harada M, Li YF, El-Gamil M et al. (2001). "Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells". Cancer Res. 61 (3): 1089–94. PMID 11221837.
Fukamachi S, Shimada A, Shima A (2001). "Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka". Nat. Genet. 28 (4): 381–5. doi:10.1038/ng584. PMID 11479596.
Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Rundshagen U, Zühlke C, Opitz S et al. (2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Hum. Mutat. 23 (2): 106–10. doi:10.1002/humu.10311. PMID 14722913.
Inagaki K, Suzuki T, Shimizu H et al. (2004). "Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan". Am. J. Hum. Genet. 74 (3): 466–71. doi:10.1086/382195. PMC 1182260. PMID 14961451.
Yuasa I, Umetsu K, Watanabe G et al. (2005). "MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids". Int. J. Legal Med. 118 (6): 364–6. doi:10.1007/s00414-004-0490-z. PMID 15455243.
Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Suzuki T, Inagaki K, Fukai K et al. (2005). "A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene". Br. J. Dermatol. 152 (1): 174–5. doi:10.1111/j.1365-2133.2005.06403.x. PMID 15656822.
Graf J, Hodgson R, van Daal A (2006). "Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation". Hum. Mutat. 25 (3): 278–84. doi:10.1002/humu.20143. PMID 15714523.
Soejima M, Koda Y (2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2". Int. J. Legal Med. 121 (1): 36–9. doi:10.1007/s00414-006-0112-z. PMID 16847698.
Lezirovitz K, Nicastro FS, Pardono E et al. (2006). "Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?". J. Hum. Genet. 51 (8): 716–20. doi:10.1007/s10038-006-0003-7. PMID 16868655.
Chi A, Valencia JC, Hu ZZ et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res. 5 (11): 3135–44. doi:10.1021/pr060363j. PMID 17081065.
Zühlke C, Criée C, Gemoll T et al. (2007). "Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population". Pigment Cell Res. 20 (3): 225–7. doi:10.1111/j.1600-0749.2007.00377.x. PMID 17516931.
Sengupta M, Chaki M, Arti N, Ray K (2007). "SLC45A2 variations in Indian oculocutaneous albinism patients". Mol. Vis. 13: 1406–11. PMID 17768386.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Membrane proteins, carrier proteins: membrane transport proteins solute carrier (TC 2A)

By group

SLC1–10

(1) high affinity glutamate and neutral amino-acid transporter (SLC1A1, 2, 3, 4, 5, 6, 7)

(2) facilitative GLUT transporter (SLC2A1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14)

(3) heavy subunits of heterodimeric amino-acid transporters (SLC3A1, 2)

(4) bicarbonate transporter (SLC4A1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11)

(5) sodium glucose cotransporter (SLC5A1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)

(6) sodium- and chloride- dependent sodium:neurotransmitter symporters (SLC6A1, SLC6A2, SLC6A3, SLC6A4, SLC6A5, SLC6A6, SLC6A7, SLC6A8, SLC6A9, SLC6A10, SLC6A11, SLC6A12, SLC6A13, SLC6A14, SLC6A15, SLC6A16, SLC6A17, SLC6A18, SLC6A19, SLC6A20)

(7) cationic amino-acid transporter/glycoprotein-associated (SLC7A1, SLC7A2, SLC7A3, SLC7A4) glycoprotein-associated/light or catalytic subunits of heterodimeric amino-acid transporters (SLC7A5, SLC7A6, SLC7A7, SLC7A8, SLC7A9, SLC7A10, SLC7A11, SLC7A13, SLC7A14)

(8) Na+/Ca2+ exchanger (SLC8A1, SLC8A2, SLC8A3)

(9) Na+/H+ exchanger (SLC9A1, SLC9A2, SLC9A3, SLC9A4, SLC9A5, SLC9A6, SLC9A7, SLC9A8, SLC9A9, SLC9A10, SLC9A11)

(10) sodium bile salt cotransport (SLC10A1, SLC10A2, SLC10A3, SLC10A4, SLC10A5, SLC10A6, SLC10A7); 10A1 · 10A2 · 10A3 · 10A7

SLC11–20

(11) proton coupled metal ion transporter (SLC11A1, SLC11A2) 11A3

(12) electroneutral cation-Cl cotransporter (SLC12A1, SLC12A1, SLC12A2, SLC12A3, SLC12A4, SLC12A5, SLC12A6, SLC12A7, SLC12A8, SLC12A9)

(13) human Na+-sulfate/carboxylate cotransporter (SLC13A1, SLC13A2, SLC13A3, SLC13A4, SLC13A5)

(14) urea transporter (SLC14A1, SLC14A2)

(15) proton oligopeptide cotransporter (SLC15A1, SLC15A2, SLC15A3, SLC15A4)

(16) monocarboxylate transporter (SLC16A1, SLC16A2, SLC16A3, SLC16A4, SLC16A5, SLC16A6, SLC16A7, SLC16A8, SLC16A9, SLC16A10, SLC16A11, SLC16A12, SLC16A13, SLC16A14)

(17) vesicular glutamate transporter (SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC17A5, SLC17A6, SLC17A7, SLC17A8, SLC17A9)

(18) vesicular amine transporter (SLC18A1, SLC18A2, SLC18A3)

(19) folate/thiamine transporter (SLC19A1, SLC19A2, SLC19A3)

(20) type III Na+-phosphate cotransporter (SLC20A1, SLC20A2)

SLC21–30

(21) organic anion transporting (SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B4, SLCO1C1) (SLCO2A1, SLCO2B1) (SLCO3A1) (SLCO4A1, SLCO4C1) (SLCO5A1) (SLCO6A1)

(22) organic cation/anion/zwitterion transporter (SLC22A1, SLC22A2, SLC22A3, SLC22A4, SLC22A5, SLC22A6, SLC22A7, SLC22A8, SLC22A9, SLC22A10, SLC22A11, SLC22A12, SLC22A13, SLC22A14, SLC22A15, SLC22A16, SLC22A17, SLC22A18, SLC22A19, SLC22A20)

(23) Na+-dependent ascorbic acid transporter (SLC23A1, SLC23A2, SLC23A3, SLC23A4)

(24) Na+/(Ca2+-K+) exchanger (SLC24A1, SLC24A2, SLC24A3, SLC24A4, SLC24A5, SLC24A6)

(25) mitochondrial carrier (SLC25A1, SLC25A2, SLC25A3, SLC25A4, SLC25A5, SLC25A6, SLC25A7, SLC25A8, SLC25A9, SLC25A10, SLC25A11, SLC25A12, SLC25A13, SLC25A14, SLC25A15, SLC25A16, SLC25A17, SLC25A18, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A23, SLC25A24, SLC25A25, SLC25A26, SLC25A27, SLC25A28, SLC25A29, SLC25A30, SLC25A31, SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A36, SLC25A37, SLC25A38, SLC25A39, SLC25A40, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46)

(26) multifunctional anion exchanger (SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A7, SLC26A8, SLC26A9, SLC26A10, SLC26A11)

(27) fatty acid transport proteins (SLC27A1, SLC27A2, SLC27A3, SLC27A4, SLC27A5, SLC27A6)

(28) Na+-coupled nucleoside transport (SLC28A1, SLC28A2, SLC28A3

(29) facilitative nucleoside transporter (SLC29A1, SLC29A2, SLC29A3, SLC29A4)

(30) zinc efflux (SLC30A1, SLC30A2, SLC30A3, SLC30A4, SLC30A5, SLC30A6, SLC30A7, SLC30A8, SLC30A9, SLC30A10)

SLC31–40

(31) copper transporter (SLC31A1)

(32) vesicular inhibitory amino-acid transporter (SLC32A1)

(33) Acetyl-CoA transporter (SLC33A1)

(34) type II Na+-phosphate cotransporter (SLC34A1, SLC34A2, SLC34A3)

(35) nucleoside-sugar transporter (SLC35A1, SLC35A2, SLC35A3, SLC35A4, SLC35A5) (SLC35B1, SLC35B2, SLC35B3, SLC35B4) (SLC35C1, SLC35C2) (SLC35D1, SLC35D2, SLC35D3) (SLC35E1, SLC35E2, SLC35E3, SLC35E4)

(36) proton-coupled amino-acid transporter (SLC36A1, SLC36A2, SLC36A3, SLC36A4)36A2 ·

(37) sugar-phosphate/phosphate exchanger (SLC37A1, SLC37A2, SLC37A3, SLC37A4)

(38) System A & N, sodium-coupled neutral amino-acid transporter (SLC38A1, SLC38A2, SLC38A3, SLC38A4, SLC38A5, SLC38A6, SLC38A10)

(39) metal ion transporter (SLC39A1, SLC39A2, SLC39A3, SLC39A4, SLC39A5, SLC39A6, SLC39A7, SLC39A8, SLC39A9, SLC39A10, SLC39A11, SLC39A12, SLC39A13, SLC39A14)

(40) basolateral iron transporter (SLC40A1)

SLC41–48

(41) MgtE-like magnesium transporter (SLC41A1, SLC41A2, SLC41A3)

(42) Ammonia transporter (RhAG, RhBG, RhCG)

(43) Na+-independent, system-L like amino-acid transporter (SLC43A1, SLC43A2, SLC43A3)

(44) Choline-like transporter (SLC44A1, SLC44A2, SLC44A3, SLC44A4, SLC44A5)

(45) Putative sugar transporter (SLC45A1, SLC45A2, SLC54A3, SLC45A4)

(46) Folate transporter (SLC46A1, SLC46A2)

(47) multidrug and toxin extrusion (SLC47A1, SLC47A2)

(48) Heme transporter

SLCO1–4

O1A2 · O1B1 · O1B3 · O2B1 · O431 · O4A1

Ion pumps

Symporter, Cotransporter	Na+/K+/2Cl- - Na/Pi3 - Na+/Cl- - Na/glucose - Na+/I- - Cl-/K+ (4, 5)

Antiporter (exchanger)	Na+/H+ - Na+/Ca2+ (Na+/(Ca2+-K+)) - Cl-/HCO3- (Band 3) - Cl-formate exchanger - Cl-oxalate exchanger

see also solute carrier disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr

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Contents

Function [edit]

See also [edit]

References [edit]

External links [edit]

Further reading [edit]