CL040_HUMAN
ID CL040_HUMAN Reviewed; 652 AA.
AC Q86WS4; B7WNU1; Q8IXY6; Q8N818; V9HW02;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 19-SEP-2006, sequence version 3.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Uncharacterized protein C12orf40;
GN Name=C12orf40;
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 3).
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 MRNA] (ISOFORM 3).
RC TISSUE=Epididymis;
RA Li J.Y., Wang H.Y., Liu F.J., Liu J.;
RL Submitted (APR-2008) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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 -!- INTERACTION:
CC Q86WS4; P63167: DYNLL1; NbExp=3; IntAct=EBI-10286004, EBI-349105;
CC Q86WS4; Q96FJ2: DYNLL2; NbExp=4; IntAct=EBI-10286004, EBI-742371;
CC Q86WS4; P61968: LMO4; NbExp=3; IntAct=EBI-10286004, EBI-2798728;
CC Q86WS4; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-10286004, EBI-398874;
CC Q86WS4; O14787-2: TNPO2; NbExp=3; IntAct=EBI-10286004, EBI-12076664;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q86WS4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86WS4-2; Sequence=VSP_035084, VSP_035085;
CC Name=3; Synonyms=HEL-206;
CC IsoId=Q86WS4-3; Sequence=VSP_035082, VSP_035083, VSP_035086;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH38754.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK097445; BAC05057.1; -; mRNA.
DR EMBL; EU668334; ACF94487.1; -; mRNA.
DR EMBL; AC125491; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC038754; AAH38754.2; ALT_INIT; mRNA.
DR EMBL; BC048120; AAH48120.3; -; mRNA.
DR CCDS; CCDS41770.1; -. [Q86WS4-1]
DR CCDS; CCDS81681.1; -. [Q86WS4-2]
DR RefSeq; NP_001026918.2; NM_001031748.3. [Q86WS4-1]
DR RefSeq; NP_001306176.1; NM_001319247.1. [Q86WS4-2]
DR AlphaFoldDB; Q86WS4; -.
DR SMR; Q86WS4; -.
DR BioGRID; 129571; 6.
DR IntAct; Q86WS4; 5.
DR STRING; 9606.ENSP00000317671; -.
DR iPTMnet; Q86WS4; -.
DR PhosphoSitePlus; Q86WS4; -.
DR BioMuta; C12orf40; -.
DR DMDM; 121944433; -.
DR MassIVE; Q86WS4; -.
DR PaxDb; Q86WS4; -.
DR PeptideAtlas; Q86WS4; -.
DR PRIDE; Q86WS4; -.
DR ProteomicsDB; 70196; -. [Q86WS4-1]
DR ProteomicsDB; 70197; -. [Q86WS4-2]
DR ProteomicsDB; 70198; -. [Q86WS4-3]
DR Antibodypedia; 24929; 72 antibodies from 15 providers.
DR DNASU; 283461; -.
DR Ensembl; ENST00000324616.9; ENSP00000317671.5; ENSG00000180116.15. [Q86WS4-1]
DR Ensembl; ENST00000405531.7; ENSP00000383897.3; ENSG00000180116.15. [Q86WS4-2]
DR Ensembl; ENST00000468200.2; ENSP00000473371.1; ENSG00000180116.15. [Q86WS4-3]
DR GeneID; 283461; -.
DR KEGG; hsa:283461; -.
DR MANE-Select; ENST00000324616.9; ENSP00000317671.5; NM_001031748.4; NP_001026918.2.
DR UCSC; uc001rmc.5; human. [Q86WS4-1]
DR CTD; 283461; -.
DR GeneCards; C12orf40; -.
DR HGNC; HGNC:26846; C12orf40.
DR HPA; ENSG00000180116; Tissue enriched (testis).
DR neXtProt; NX_Q86WS4; -.
DR OpenTargets; ENSG00000180116; -.
DR PharmGKB; PA143485370; -.
DR VEuPathDB; HostDB:ENSG00000180116; -.
DR eggNOG; ENOG502S59G; Eukaryota.
DR GeneTree; ENSGT00390000002848; -.
DR HOGENOM; CLU_052127_0_0_1; -.
DR InParanoid; Q86WS4; -.
DR OMA; ERCSGNI; -.
DR OrthoDB; 625360at2759; -.
DR PhylomeDB; Q86WS4; -.
DR TreeFam; TF336354; -.
DR PathwayCommons; Q86WS4; -.
DR SignaLink; Q86WS4; -.
DR BioGRID-ORCS; 283461; 22 hits in 1038 CRISPR screens.
DR ChiTaRS; C12orf40; human.
DR GenomeRNAi; 283461; -.
DR Pharos; Q86WS4; Tdark.
DR PRO; PR:Q86WS4; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q86WS4; protein.
DR Bgee; ENSG00000180116; Expressed in secondary oocyte and 20 other tissues.
DR ExpressionAtlas; Q86WS4; baseline and differential.
DR Genevisible; Q86WS4; HS.
DR InterPro; IPR027883; DUF4552.
DR PANTHER; PTHR35158; PTHR35158; 1.
DR Pfam; PF15089; DUF4552; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..652
FT /note="Uncharacterized protein C12orf40"
FT /id="PRO_0000348051"
FT REGION 363..434
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 469..506
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 373..390
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 399..416
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 417..434
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 469..503
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..77
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_035082"
FT VAR_SEQ 429..471
FT /note="MGNIPSEELHSKQSWDFGLDEILMEEGGIYSLKSKRISTKKIS -> IWCTK
FT CSEFKVIFTLIHYVLMLNLFLKSLRTAFQAFLNNDLQL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_035083"
FT VAR_SEQ 471..477
FT /note="SLDSAQS -> CQYNCIS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035084"
FT VAR_SEQ 472..652
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_035086"
FT VAR_SEQ 478..652
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035085"
FT VARIANT 13
FT /note="I -> L (in dbSNP:rs58302581)"
FT /id="VAR_061610"
SQ SEQUENCE 652 AA; 74505 MW; DBE494C3C183E77C CRC64;
MNWVGGSRSR VLIKQERRKQ KEYFEKHRLK SKMKSLGVLS PVKNSAVSLD ILNLYMVNQI
SCKKKIPETV RKPTHVNMNR DIKMPLRKHN LELTMSPHCV PSKLCLDDTE TNVNCQRLSS
KEDLGPVQSQ GMDSYSMLHP QFSKIENCSF TPSSFSVELP SNRHISKLNF TSGIAPTPQK
LAYEKKQNDQ RSTVNCSDSL LSKLNKSQDV FSPSHKTTRF GTLFERLNSL GNRNLLTKSP
AVIMDEDCRS TDEIRQSDYI TEKHSIQHIW GKNGKEVSNF LEDVNQSTPN LLSENCDSFV
SQNMINVLNI DEQRIKKTFN KCDYDSMGDT CVVTSSDKNH VTDRCIRNIF TVPELTFSNS
TLNKTSYPEK CQPNKKYQRE YNKNERNDLS TSFENDYYPS SSERKEKFEN DYQEKTPQKS
IQKYPANSMG NIPSEELHSK QSWDFGLDEI LMEEGGIYSL KSKRISTKKI SLDSAQSSRS
TSYSPRPTDS CFSSSSDLPS EDEDQISQQI EDSNRMTIKT KEKMNNFYVE RMAKLSGDRI
VKNDDKIHKQ NENFYQFSVK NNTDQFPQLQ CNSAHILQNK TNDNCVLQAA RCDAGIQTES
ESVMEEKLDV AIQCDLISKC TCRSDVSLCN LERCSGNIKA DTTGGQEIHK NN
