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Q9UMX9

- S45A2_HUMAN

UniProt

Q9UMX9 - S45A2_HUMAN

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Protein

Membrane-associated transporter protein

Gene

SLC45A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9UMX9.
CleanExiHS_AIM1.
HS_SLC45A2.
ExpressionAtlasiQ9UMX9. baseline.
GenevestigatoriQ9UMX9.

Interactioni

Protein-protein interaction databases

BioGridi119335. 1 interaction.
STRINGi9606.ENSP00000296589.

Structurei

3D structure databases

ProteinModelPortaliQ9UMX9.
SMRiQ9UMX9. Positions 371-418.
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.
GeneTreeiENSGT00390000018882.
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

        10         20         30         40         50
MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA
60 70 80 90 100
VEAAYVTPVL LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG
110 120 130 140 150
RRRPYILTLG VMMLVGMALY LNGATVVAAL IANPRRKLVW AISVTMIGVV
160 170 180 190 200
LFDFAADFID GPIKAYLFDV CSHQDKEKGL HYHALFTGFG GALGYLLGAI
210 220 230 240 250
DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA PLTEVAKGIP
260 270 280 290 300
PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA
310 320 330 340 350
MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD
360 370 380 390 400
PYSAHNSTEF LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL
410 420 430 440 450
YFTGYLLFGL GTGFIGLFPN VYSTLVLCSL FGVMSSTLYT VPFNLITEYH
460 470 480 490 500
REEEKERQQA PGGDPDNSVR GKGMDCATLT CMVQLAQILV GGGLGFLVNT
510 520 530
AGTVVVVVIT ASAVALIGCC FVALFVRYVD
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_001284346.1. NM_001297417.1.
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_001284346.1. NM_001297417.1.
NP_057264.3. NM_016180.3.
UniGenei Hs.278962.

3D structure databases

ProteinModelPortali Q9UMX9.
SMRi Q9UMX9. Positions 371-418.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119335. 1 interaction.
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.
GeneTreei ENSGT00390000018882.
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

Bgeei Q9UMX9.
CleanExi HS_AIM1.
HS_SLC45A2.
ExpressionAtlasi Q9UMX9. baseline.
Genevestigatori Q9UMX9.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 124 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