LRMDA_HUMAN
ID LRMDA_HUMAN Reviewed; 198 AA.
AC Q9H2I8; B1AVW6;
DT 26-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Leucine-rich melanocyte differentiation-associated protein {ECO:0000305};
GN Name=LRMDA {ECO:0000312|HGNC:HGNC:23405}; ORFNames=C10orf11, CDA017;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pheochromocytoma;
RA Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.;
RT "A novel gene expressed in human pheochromocytoma.";
RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Platelet;
RX PubMed=18088087; DOI=10.1021/pr0704130;
RA Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J.,
RA Schuetz C., Walter U., Gambaryan S., Sickmann A.;
RT "Phosphoproteome of resting human platelets.";
RL J. Proteome Res. 7:526-534(2008).
RN [5]
RP FUNCTION, TISSUE SPECIFICITY, AND INVOLVEMENT IN OCA7.
RX PubMed=23395477; DOI=10.1016/j.ajhg.2013.01.006;
RA Groenskov K., Dooley C.M., Oestergaard E., Kelsh R.N., Hansen L.,
RA Levesque M.P., Vilhelmsen K., Moellgaard K., Stemple D.L., Rosenberg T.;
RT "Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-
RT recessive albinism.";
RL Am. J. Hum. Genet. 92:415-421(2013).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Required for melanocyte differentiation.
CC {ECO:0000269|PubMed:23395477}.
CC -!- TISSUE SPECIFICITY: In the embryo, expressed in melanoblasts. In the
CC fetus, expressed in melanocytes. Not detected in retinal pigment
CC epithelial cells. {ECO:0000269|PubMed:23395477}.
CC -!- DISEASE: Albinism, oculocutaneous, 7 (OCA7) [MIM:615179]: A disorder of
CC pigmentation characterized by reduced biosynthesis of melanin in the
CC skin, hair and eyes. Patients show reduced or lacking pigmentation
CC associated with classic albinism ocular abnormalities, including
CC decreased visual acuity, macular hypoplasia, optic dysplasia, atypical
CC choroidal vessels, and nystagmus. {ECO:0000269|PubMed:23395477}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
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DR EMBL; AF267860; AAG44729.1; -; mRNA.
DR EMBL; AC012047; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC013286; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC024603; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL731568; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471083; EAW54585.1; -; Genomic_DNA.
DR CCDS; CCDS7351.1; -.
DR RefSeq; NP_114413.1; NM_032024.4.
DR AlphaFoldDB; Q9H2I8; -.
DR SMR; Q9H2I8; -.
DR BioGRID; 123821; 5.
DR STRING; 9606.ENSP00000361577; -.
DR iPTMnet; Q9H2I8; -.
DR PhosphoSitePlus; Q9H2I8; -.
DR BioMuta; LRMDA; -.
DR DMDM; 46576650; -.
DR EPD; Q9H2I8; -.
DR jPOST; Q9H2I8; -.
DR MassIVE; Q9H2I8; -.
DR MaxQB; Q9H2I8; -.
DR PaxDb; Q9H2I8; -.
DR PeptideAtlas; Q9H2I8; -.
DR PRIDE; Q9H2I8; -.
DR ProteomicsDB; 80553; -.
DR Antibodypedia; 64297; 9 antibodies from 5 providers.
DR DNASU; 83938; -.
DR Ensembl; ENST00000372499.5; ENSP00000361577.1; ENSG00000148655.15.
DR GeneID; 83938; -.
DR KEGG; hsa:83938; -.
DR UCSC; uc001jxi.4; human.
DR CTD; 83938; -.
DR DisGeNET; 83938; -.
DR GeneCards; LRMDA; -.
DR HGNC; HGNC:23405; LRMDA.
DR HPA; ENSG00000148655; Tissue enhanced (adrenal gland, epididymis).
DR MalaCards; LRMDA; -.
DR MIM; 614537; gene.
DR MIM; 615179; phenotype.
DR neXtProt; NX_Q9H2I8; -.
DR OpenTargets; ENSG00000148655; -.
DR Orphanet; 352745; Oculocutaneous albinism type 7.
DR PharmGKB; PA134899373; -.
DR VEuPathDB; HostDB:ENSG00000148655; -.
DR eggNOG; KOG1644; Eukaryota.
DR GeneTree; ENSGT00940000153289; -.
DR HOGENOM; CLU_075145_2_0_1; -.
DR InParanoid; Q9H2I8; -.
DR OrthoDB; 1133053at2759; -.
DR PhylomeDB; Q9H2I8; -.
DR TreeFam; TF328882; -.
DR PathwayCommons; Q9H2I8; -.
DR BioGRID-ORCS; 83938; 12 hits in 1018 CRISPR screens.
DR ChiTaRS; C10orf11; human.
DR GenomeRNAi; 83938; -.
DR Pharos; Q9H2I8; Tdark.
DR PRO; PR:Q9H2I8; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9H2I8; protein.
DR Bgee; ENSG00000148655; Expressed in calcaneal tendon and 143 other tissues.
DR ExpressionAtlas; Q9H2I8; baseline and differential.
DR Genevisible; Q9H2I8; HS.
DR GO; GO:0030318; P:melanocyte differentiation; IMP:UniProtKB.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR043313; LRMDA.
DR InterPro; IPR032675; LRR_dom_sf.
DR PANTHER; PTHR46282; PTHR46282; 1.
DR PROSITE; PS51450; LRR; 3.
PE 1: Evidence at protein level;
KW Albinism; Differentiation; Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..198
FT /note="Leucine-rich melanocyte differentiation-associated
FT protein"
FT /id="PRO_0000089781"
FT REPEAT 2..22
FT /note="LRR 1"
FT REPEAT 26..47
FT /note="LRR 2"
FT REPEAT 48..69
FT /note="LRR 3"
FT REPEAT 75..95
FT /note="LRR 4"
FT DOMAIN 96..134
FT /note="LRRCT"
FT VARIANT 153
FT /note="S -> F (in dbSNP:rs35349706)"
FT /id="VAR_033686"
SQ SEQUENCE 198 AA; 22568 MW; 46C5A791B179AEDF CRC64;
MEKYLSLSGN HSSNKRSLEG LSAFRSLEEL ILDNNQLGDD LVLPGLPRLH TLTLNKNRIT
DLENLLDHLA EVTPALEYLS LLGNVACPNE LVSLEKDEED YKRYRCFVLY KLPNLKFLDA
QKVTRQEREE ALVRGVFMKV VKPKASSEDV ASSPERHYTP LPSASRELTS HQGVLGKCRY
VYYGKNSEGN RFIRDDQL
