ID FEM1C_HUMAN Reviewed; 617 AA. AC Q96JP0; B2RE47; Q8N3V8; Q9H704; Q9NPL6; Q9NPL9; DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot. DT 01-DEC-2001, sequence version 1. DT 02-NOV-2010, entry version 74. DE RecName: Full=Protein fem-1 homolog C; DE Short=FEM1c; DE AltName: Full=FEM1-gamma; GN Name=FEM1C; Synonyms=KIAA1785; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY. RC TISSUE=Cartilage; RX PubMed=11733146; DOI=10.1016/S0378-1119(01)00756-9; RA Krakow D., Sebald E., King L.M., Cohn D.H.; RT "Identification of human FEM1A, the ortholog of a C. elegans sex- RT differentiation gene."; RL Gene 279:213-219(2001). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY. RC TISSUE=Testis; RX MEDLINE=22890068; PubMed=14527725; DOI=10.1016/S0378-1119(03)00712-1; RA Ventura-Holman T., Lu D., Si X., Izevbigie E.B., Maher J.F.; RT "The Fem1c genes: conserved members of the Fem1 gene family in RT vertebrates."; RL Gene 314:133-139(2003). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain; RX MEDLINE=21245130; PubMed=11347906; DOI=10.1093/dnares/8.2.85; RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XX. RT The complete sequences of 100 new cDNA clones from brain which code RT for large proteins in vitro."; RL DNA Res. 8:85-95(2001). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Colon, and Trachea; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-271 AND 301-617. RG The European IMAGE consortium; RL Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases. RN [8] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 279-617. RC TISSUE=Skeletal muscle; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [9] RP VARIANTS [LARGE SCALE ANALYSIS] ASN-434 AND ASN-462. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., RA Vogelstein B., Kinzler K.W., Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal RT cancers."; RL Science 314:268-274(2006). CC -!- FUNCTION: Probable component of an E3 ubiquitin-protein ligase CC complex, in which it may act as a substrate recognition subunit CC (By similarity). CC -!- PATHWAY: Protein modification; protein ubiquitination. CC -!- SUBUNIT: Component of some E3 ubiquitin-protein ligase complex (By CC similarity). CC -!- SUBCELLULAR LOCATION: Cytoplasm (By similarity). CC -!- TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, CC cardiac tissue, skeletal muscle and testis. Expressed at lower CC levels in other tissues, including cartilage. CC -!- SIMILARITY: Belongs to the fem-1 family. CC -!- SIMILARITY: Contains 9 ANK repeats. CC -!- SIMILARITY: Contains 2 TPR repeats. CC -!- CAUTION: Was initially thought to be the ortholog of mouse FEM1A CC (PubMed:11733146). CC -!- SEQUENCE CAUTION: CC Sequence=BAB15096.1; Type=Erroneous initiation; 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; AF391093; AAL37627.1; -; mRNA. DR EMBL; AY249188; AAO64429.1; -; mRNA. DR EMBL; AB058688; BAB47414.1; -; mRNA. DR EMBL; AK025265; BAB15096.1; ALT_INIT; mRNA. DR EMBL; AK315803; BAG38144.1; -; mRNA. DR EMBL; CH471086; EAW48963.1; -; Genomic_DNA. DR EMBL; BC028369; AAH28369.1; -; mRNA. DR EMBL; AL365409; CAB96953.1; -; mRNA. DR EMBL; AL365415; CAB96957.1; -; mRNA. DR EMBL; AL831817; CAD38531.1; -; mRNA. DR IPI; IPI00064238; -. DR RefSeq; NP_064562.1; -. DR UniGene; Hs.47367; -. DR HSSP; Q8TDY4; 2B0O. DR ProteinModelPortal; Q96JP0; -. DR SMR; Q96JP0; 5-235, 481-577. DR PRIDE; Q96JP0; -. DR Ensembl; ENST00000274457; ENSP00000274457; ENSG00000145780. DR GeneID; 56929; -. DR KEGG; hsa:56929; -. DR UCSC; uc003krb.1; human. DR CTD; 56929; -. DR GeneCards; GC05M114884; -. DR H-InvDB; HIX0005102; -. DR HGNC; HGNC:16933; FEM1C. DR MIM; 608767; gene. DR PharmGKB; PA134891999; -. DR eggNOG; prNOG12095; -. DR HOGENOM; HBG315645; -. DR HOVERGEN; HBG057774; -. DR InParanoid; Q96JP0; -. DR OMA; KYWKRAM; -. DR OrthoDB; EOG9PVRJ1; -. DR PhylomeDB; Q96JP0; -. DR NextBio; 62467; -. DR ArrayExpress; Q96JP0; -. DR Bgee; Q96JP0; -. DR CleanEx; HS_FEM1C; -. DR Genevestigator; Q96JP0; -. DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell. DR InterPro; IPR002110; Ankyrin_rpt. DR InterPro; IPR020683; Ankyrin_rpt-contain_dom. DR Gene3D; G3DSA:1.25.40.20; ANK; 5. DR Pfam; PF00023; Ank; 6. DR SMART; SM00248; ANK; 9. DR SUPFAM; SSF48403; ANK; 2. DR PROSITE; PS50297; ANK_REP_REGION; 2. DR PROSITE; PS50088; ANK_REPEAT; 7. DR PROSITE; PS50005; TPR; FALSE_NEG. DR PROSITE; PS50293; TPR_REGION; FALSE_NEG. PE 2: Evidence at transcript level; KW ANK repeat; Complete proteome; Cytoplasm; Polymorphism; Repeat; KW TPR repeat; Ubl conjugation pathway. FT CHAIN 1 617 Protein fem-1 homolog C. FT /FTId=PRO_0000324536. FT REPEAT 2 31 ANK 1. FT REPEAT 40 70 ANK 2. FT REPEAT 82 111 ANK 3. FT REPEAT 115 144 ANK 4. FT REPEAT 148 177 ANK 5. FT REPEAT 181 210 ANK 6. FT REPEAT 213 242 ANK 7. FT REPEAT 245 279 TPR 1. FT REPEAT 338 371 TPR 2. FT REPEAT 481 523 ANK 8. FT REPEAT 527 556 ANK 9. FT VARIANT 434 434 D -> N (in a breast cancer sample; FT somatic mutation). FT /FTId=VAR_039810. FT VARIANT 462 462 D -> N (in a breast cancer sample; FT somatic mutation). FT /FTId=VAR_039811. SQ SEQUENCE 617 AA; 68673 MW; 6218B3963C486369 CRC64; MDLKTAVFNA ARDGKLRLLT KLLASKSKEE VSSLISEKTN GATPLLMAAR YGHLDMVEFL LEQCSASIEV GGSVNFDGET IEGAPPLWAA SAAGHLKVVQ SLLNHGASVN NTTLTNSTPL RAACFDGHLE IVKYLVEHKA DLEVSNRHGH TCLMISCYKG HKEIAQYLLE KGADVNRKSV KGNTALHDCA ESGSLDIMKM LLMYCAKMEK DGYGMTPLLS ASVTGHTNIV DFLTHHAQTS KTERINALEL LGATFVDKKR DLLGALKYWK KAMNMRYSDR TNIISKPVPQ TLIMAYDYAK EVNSAEELEG LIADPDEMRM QALLIRERIL GPSHPDTSYY IRYRGAVYAD SGNFKRCINL WKYALDMQQS NLDPLSPMTA SSLLSFAELF SFMLQDRAKG LLGTTVTFDD LMGILCKSVL EIERAIKQTQ CPADPLQLNK ALSIILHLIC LLEKVPCTLE QDHFKKQTIY RFLKLHPRGK NNFSPLHLAV DKNTTCVGRY PVCKFPSLQV TAILIECGAD VNVRDSDDNS PLHIAALNNH PDIMNLLIKS GAHFDATNLH KQTASDLLDE KEIAKNLIQP INHTTLQCLA ARVIVNHRIY YKGHIPEKLE TFVSLHR //