L10K_HUMAN
ID L10K_HUMAN Reviewed; 99 AA.
AC Q9UNZ5; B2R4J9;
DT 02-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Leydig cell tumor 10 kDa protein homolog;
GN Name=C19orf53; ORFNames=HSPC023;
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=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: May have a potential role in hypercalcemia of malignancy.
CC {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the UPF0390 family. {ECO:0000305}.
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DR EMBL; AF078852; AAD44484.1; -; mRNA.
DR EMBL; AK311855; BAG34796.1; -; mRNA.
DR EMBL; CH471106; EAW84372.1; -; Genomic_DNA.
DR EMBL; BC015465; AAH15465.1; -; mRNA.
DR CCDS; CCDS12298.1; -.
DR RefSeq; NP_054766.1; NM_014047.2.
DR AlphaFoldDB; Q9UNZ5; -.
DR BioGRID; 118798; 18.
DR DIP; DIP-61980N; -.
DR IntAct; Q9UNZ5; 11.
DR MINT; Q9UNZ5; -.
DR STRING; 9606.ENSP00000465432; -.
DR iPTMnet; Q9UNZ5; -.
DR PhosphoSitePlus; Q9UNZ5; -.
DR BioMuta; C19orf53; -.
DR DMDM; 17369716; -.
DR EPD; Q9UNZ5; -.
DR jPOST; Q9UNZ5; -.
DR MassIVE; Q9UNZ5; -.
DR MaxQB; Q9UNZ5; -.
DR PaxDb; Q9UNZ5; -.
DR PeptideAtlas; Q9UNZ5; -.
DR PRIDE; Q9UNZ5; -.
DR ProteomicsDB; 85350; -.
DR TopDownProteomics; Q9UNZ5; -.
DR Antibodypedia; 71794; 39 antibodies from 11 providers.
DR DNASU; 28974; -.
DR Ensembl; ENST00000588234.6; ENSP00000465432.1; ENSG00000104979.9.
DR GeneID; 28974; -.
DR KEGG; hsa:28974; -.
DR MANE-Select; ENST00000588234.6; ENSP00000465432.1; NM_014047.3; NP_054766.1.
DR UCSC; uc002mxg.4; human.
DR CTD; 28974; -.
DR DisGeNET; 28974; -.
DR GeneCards; C19orf53; -.
DR HGNC; HGNC:24991; C19orf53.
DR HPA; ENSG00000104979; Low tissue specificity.
DR neXtProt; NX_Q9UNZ5; -.
DR OpenTargets; ENSG00000104979; -.
DR PharmGKB; PA147358407; -.
DR VEuPathDB; HostDB:ENSG00000104979; -.
DR eggNOG; ENOG502S8BT; Eukaryota.
DR GeneTree; ENSGT00390000011740; -.
DR HOGENOM; CLU_182392_0_0_1; -.
DR InParanoid; Q9UNZ5; -.
DR OMA; ACRGPKK; -.
DR OrthoDB; 1629358at2759; -.
DR PhylomeDB; Q9UNZ5; -.
DR PathwayCommons; Q9UNZ5; -.
DR SignaLink; Q9UNZ5; -.
DR BioGRID-ORCS; 28974; 499 hits in 1058 CRISPR screens.
DR ChiTaRS; C19orf53; human.
DR GenomeRNAi; 28974; -.
DR Pharos; Q9UNZ5; Tdark.
DR PRO; PR:Q9UNZ5; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9UNZ5; protein.
DR Bgee; ENSG00000104979; Expressed in hindlimb stylopod muscle and 199 other tissues.
DR ExpressionAtlas; Q9UNZ5; baseline and differential.
DR Genevisible; Q9UNZ5; HS.
DR InterPro; IPR019034; UPF0390.
DR PANTHER; PTHR16967; PTHR16967; 1.
DR Pfam; PF09495; DUF2462; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..99
FT /note="Leydig cell tumor 10 kDa protein homolog"
FT /id="PRO_0000084343"
FT REGION 1..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 39
FT /note="K -> R (in dbSNP:rs10104)"
FT /id="VAR_053783"
SQ SEQUENCE 99 AA; 10577 MW; A5FDF26764BED659 CRC64;
MAQGQRKFQA HKPAKSKTAA AASEKNRGPR KGGRVIAPKK ARVVQQQKLK KNLEVGIRKK
IEHDVVMKAS SSLPKKLALL KAPAKKKGAA AATSSKTPS
