CL042_HUMAN
ID CL042_HUMAN Reviewed; 360 AA.
AC Q96LP6; Q49A64; Q4G0S2;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Uncharacterized protein C12orf42;
GN Name=C12orf42;
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] (ISOFORM 1), AND VARIANT ASP-11.
RC TISSUE=Testis;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANT
RP ASP-11.
RC TISSUE=Testis;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96LP6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96LP6-2; Sequence=VSP_022691;
CC Name=3;
CC IsoId=Q96LP6-3; Sequence=VSP_022692, VSP_022693;
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK058052; BAB71641.1; -; mRNA.
DR EMBL; AC084364; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090000; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC126176; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC039352; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC044617; AAH44617.1; -; mRNA.
DR EMBL; BC117392; AAI17393.1; -; mRNA.
DR EMBL; BC117394; AAI17395.1; -; mRNA.
DR CCDS; CCDS44963.1; -. [Q96LP6-1]
DR RefSeq; NP_001092806.1; NM_001099336.2. [Q96LP6-1]
DR RefSeq; NP_001265348.1; NM_001278419.1. [Q96LP6-2]
DR RefSeq; NP_001265349.1; NM_001278420.1. [Q96LP6-2]
DR RefSeq; NP_940923.2; NM_198521.3. [Q96LP6-1]
DR RefSeq; XP_011536594.1; XM_011538292.2. [Q96LP6-1]
DR RefSeq; XP_011536595.1; XM_011538293.2. [Q96LP6-1]
DR RefSeq; XP_016874765.1; XM_017019276.1. [Q96LP6-1]
DR AlphaFoldDB; Q96LP6; -.
DR STRING; 9606.ENSP00000367353; -.
DR iPTMnet; Q96LP6; -.
DR PhosphoSitePlus; Q96LP6; -.
DR BioMuta; C12orf42; -.
DR jPOST; Q96LP6; -.
DR PaxDb; Q96LP6; -.
DR PeptideAtlas; Q96LP6; -.
DR PRIDE; Q96LP6; -.
DR Antibodypedia; 30495; 61 antibodies from 14 providers.
DR DNASU; 374470; -.
DR Ensembl; ENST00000378113.7; ENSP00000367353.2; ENSG00000179088.16. [Q96LP6-1]
DR Ensembl; ENST00000547347.5; ENSP00000446908.1; ENSG00000179088.16. [Q96LP6-3]
DR Ensembl; ENST00000548883.6; ENSP00000447908.1; ENSG00000179088.16. [Q96LP6-1]
DR GeneID; 374470; -.
DR KEGG; hsa:374470; -.
DR MANE-Select; ENST00000548883.6; ENSP00000447908.1; NM_198521.5; NP_940923.2.
DR UCSC; uc001tjt.4; human. [Q96LP6-1]
DR CTD; 374470; -.
DR DisGeNET; 374470; -.
DR GeneCards; C12orf42; -.
DR HGNC; HGNC:24729; C12orf42.
DR HPA; ENSG00000179088; Tissue enriched (testis).
DR neXtProt; NX_Q96LP6; -.
DR OpenTargets; ENSG00000179088; -.
DR PharmGKB; PA143485372; -.
DR VEuPathDB; HostDB:ENSG00000179088; -.
DR eggNOG; ENOG502RVJS; Eukaryota.
DR GeneTree; ENSGT00390000015477; -.
DR HOGENOM; CLU_2440222_0_0_1; -.
DR InParanoid; Q96LP6; -.
DR OMA; LIFTVRQ; -.
DR PhylomeDB; Q96LP6; -.
DR TreeFam; TF338230; -.
DR PathwayCommons; Q96LP6; -.
DR BioGRID-ORCS; 374470; 9 hits in 1032 CRISPR screens.
DR ChiTaRS; C12orf42; human.
DR GenomeRNAi; 374470; -.
DR Pharos; Q96LP6; Tdark.
DR PRO; PR:Q96LP6; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96LP6; protein.
DR Bgee; ENSG00000179088; Expressed in sperm and 103 other tissues.
DR ExpressionAtlas; Q96LP6; baseline and differential.
DR Genevisible; Q96LP6; HS.
DR InterPro; IPR029288; DUF4607.
DR PANTHER; PTHR40708; PTHR40708; 1.
DR Pfam; PF15380; DUF4607; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..360
FT /note="Uncharacterized protein C12orf42"
FT /id="PRO_0000274274"
FT REGION 193..245
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 198..241
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..95
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022691"
FT VAR_SEQ 87..107
FT /note="VFPERTQNSMACKRLLHTCQY -> GSHHGQATQKLQGAMVLHLEE (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022692"
FT VAR_SEQ 108..360
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022693"
FT VARIANT 11
FT /note="E -> D (in dbSNP:rs10778257)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_030229"
FT VARIANT 182
FT /note="P -> R (in dbSNP:rs7484376)"
FT /id="VAR_030230"
FT CONFLICT 38
FT /note="A -> D (in Ref. 3; BC039352)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 360 AA; 39738 MW; 1935263A48633526 CRC64;
MSTVICMKQR EEEFLLTIRP FANRMQKSPC YIPIVSSATL WDRSTPSAKH IPCYERTSVP
CSRFINHMKN FSESPKFRSL HFLNFPVFPE RTQNSMACKR LLHTCQYIVP RCSVSTVSFD
EESYEEFRSS PAPSSETDEA PLIFTARGET EERARGAPKQ AWNSSFLEQL VKKPNWAHSV
NPVHLEAQGI HISRHTRPKG QPLSSPKKNS GSAARPSTAI GLCRRSQTPG ALQSTGPSNT
ELEPEERMAV PAGAQAHPDD IQSRLLGASG NPVGKGAVAM APEMLPKHPH TPRDRRPQAD
TSLHGNLAGA PLPLLAGAST HFPSKRLIKV CSSAPPRPTR RFHTVCSQAL SRPVVNAHLH
