C10_HUMAN
ID C10_HUMAN Reviewed; 126 AA.
AC Q99622; B2R4Q6;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1997, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Protein C10;
GN Name=C12orf57; Synonyms=C10;
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 [GENOMIC DNA].
RC TISSUE=Brain;
RX PubMed=9074930; DOI=10.1101/gr.7.3.268;
RA Ansari-Lari M.A., Shen Y., Muzny D.M., Lee W., Gibbs R.A.;
RT "Large-scale sequencing in human chromosome 12p13: experimental and
RT computational gene structure determination.";
RL Genome Res. 7:268-280(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Thymus;
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
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 ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [6]
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).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22223895; DOI=10.1074/mcp.m111.015131;
RA Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T.,
RA Giglione C.;
RT "Comparative large-scale characterisation of plant vs. mammal proteins
RT reveals similar and idiosyncratic N-alpha acetylation features.";
RL Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
RN [8]
RP INVOLVEMENT IN TEMTYS, FUNCTION, SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=23453666; DOI=10.1016/j.ajhg.2013.02.004;
RA Akizu N., Shembesh N.M., Ben-Omran T., Bastaki L., Al-Tawari A., Zaki M.S.,
RA Koul R., Spencer E., Rosti R.O., Scott E., Nickerson E., Gabriel S.,
RA da Gente G., Li J., Deardorff M.A., Conlin L.K., Horton M.A., Zackai E.H.,
RA Sherr E.H., Gleeson J.G.;
RT "Whole-exome sequencing identifies mutated c12orf57 in recessive corpus
RT callosum hypoplasia.";
RL Am. J. Hum. Genet. 92:392-400(2013).
RN [9]
RP INVOLVEMENT IN TEMTYS.
RX PubMed=23633300; DOI=10.1002/ajmg.a.35850;
RA Salih M.A., Tzschach A., Oystreck D.T., Hassan H.H., Aldrees A.,
RA Elmalik S.A., El Khashab H.Y., Wienker T.F., Abu-Amero K.K., Bosley T.M.;
RT "A newly recognized autosomal recessive syndrome affecting neurologic
RT function and vision.";
RL Am. J. Med. Genet. A 161:1207-1213(2013).
RN [10]
RP VARIANT TEMTYS GLN-51.
RX PubMed=23453665; DOI=10.1016/j.ajhg.2013.01.008;
RA Zahrani F., Aldahmesh M.A., Alshammari M.J., Al-Hazzaa S.A., Alkuraya F.S.;
RT "Mutations in c12orf57 cause a syndromic form of colobomatous
RT microphthalmia.";
RL Am. J. Hum. Genet. 92:387-391(2013).
CC -!- FUNCTION: In brain, may be required for corpus callosum development.
CC {ECO:0000269|PubMed:23453666}.
CC -!- INTERACTION:
CC Q99622; Q8NFD2: ANKK1; NbExp=3; IntAct=EBI-2808472, EBI-13280688;
CC Q99622; P51460: INSL3; NbExp=3; IntAct=EBI-2808472, EBI-12919766;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23453666}.
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed, with higher expression in
CC lung and fetal brain. {ECO:0000269|PubMed:23453666}.
CC -!- DISEASE: Temtamy syndrome (TEMTYS) [MIM:218340]: An autosomal recessive
CC syndrome characterized by intellectual disability, variable
CC craniofacial dysmorphism, ocular coloboma, seizures, and brain
CC abnormalities, including abnormalities of the corpus callosum and
CC thalamus. {ECO:0000269|PubMed:23453665, ECO:0000269|PubMed:23453666,
CC ECO:0000269|PubMed:23633300}. Note=The disease is caused by variants
CC affecting the gene represented in this entry. A variant resulting in a
CC GUG start codon may be able to produce some protein because of a
CC consensus Kozak sequence, although less efficiently than the wild type.
CC This would explain the phenotypic variability observed.
CC -!- SIMILARITY: Belongs to the UPF0456 family. {ECO:0000305}.
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DR EMBL; U47924; AAB51329.1; -; Genomic_DNA.
DR EMBL; AK311912; BAG34853.1; -; mRNA.
DR EMBL; CH471116; EAW88705.1; -; Genomic_DNA.
DR EMBL; BC009925; AAH09925.1; -; mRNA.
DR CCDS; CCDS8571.1; -.
DR RefSeq; NP_001288763.1; NM_001301834.1.
DR RefSeq; NP_612434.1; NM_138425.3.
DR AlphaFoldDB; Q99622; -.
DR SMR; Q99622; -.
DR BioGRID; 125237; 34.
DR IntAct; Q99622; 7.
DR STRING; 9606.ENSP00000229281; -.
DR iPTMnet; Q99622; -.
DR PhosphoSitePlus; Q99622; -.
DR BioMuta; C12orf57; -.
DR EPD; Q99622; -.
DR jPOST; Q99622; -.
DR MassIVE; Q99622; -.
DR MaxQB; Q99622; -.
DR PaxDb; Q99622; -.
DR PeptideAtlas; Q99622; -.
DR PRIDE; Q99622; -.
DR ProteomicsDB; 78363; -.
DR TopDownProteomics; Q99622; -.
DR Antibodypedia; 22799; 50 antibodies from 12 providers.
DR DNASU; 113246; -.
DR Ensembl; ENST00000229281.6; ENSP00000229281.5; ENSG00000111678.11.
DR Ensembl; ENST00000545581.5; ENSP00000440602.1; ENSG00000111678.11.
DR GeneID; 113246; -.
DR KEGG; hsa:113246; -.
DR MANE-Select; ENST00000229281.6; ENSP00000229281.5; NM_138425.4; NP_612434.1.
DR UCSC; uc001qrz.4; human.
DR CTD; 113246; -.
DR DisGeNET; 113246; -.
DR GeneCards; C12orf57; -.
DR HGNC; HGNC:29521; C12orf57.
DR HPA; ENSG00000111678; Low tissue specificity.
DR MalaCards; C12orf57; -.
DR MIM; 218340; phenotype.
DR MIM; 615140; gene.
DR neXtProt; NX_Q99622; -.
DR OpenTargets; ENSG00000111678; -.
DR Orphanet; 1777; Temtamy syndrome.
DR PharmGKB; PA143485386; -.
DR VEuPathDB; HostDB:ENSG00000111678; -.
DR eggNOG; ENOG502S2W0; Eukaryota.
DR GeneTree; ENSGT00390000005242; -.
DR HOGENOM; CLU_144250_1_0_1; -.
DR InParanoid; Q99622; -.
DR OMA; GNDMMKM; -.
DR OrthoDB; 1599659at2759; -.
DR PhylomeDB; Q99622; -.
DR TreeFam; TF323852; -.
DR PathwayCommons; Q99622; -.
DR SignaLink; Q99622; -.
DR BioGRID-ORCS; 113246; 15 hits in 1055 CRISPR screens.
DR ChiTaRS; C12orf57; human.
DR GenomeRNAi; 113246; -.
DR Pharos; Q99622; Tbio.
DR PRO; PR:Q99622; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q99622; protein.
DR Bgee; ENSG00000111678; Expressed in thymus and 102 other tissues.
DR ExpressionAtlas; Q99622; baseline and differential.
DR Genevisible; Q99622; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0048593; P:camera-type eye morphogenesis; IMP:UniProtKB.
DR GO; GO:0050890; P:cognition; IMP:UniProtKB.
DR GO; GO:0021540; P:corpus callosum morphogenesis; IMP:UniProtKB.
DR GO; GO:0009791; P:post-embryonic development; IMP:UniProtKB.
DR GO; GO:0036343; P:psychomotor behavior; IMP:UniProtKB.
DR GO; GO:0014819; P:regulation of skeletal muscle contraction; IMP:UniProtKB.
DR GO; GO:0021678; P:third ventricle development; IMP:UniProtKB.
DR InterPro; IPR026317; P_C10.
DR PANTHER; PTHR13463; PTHR13463; 1.
DR Pfam; PF14974; P_C10; 1.
PE 1: Evidence at protein level;
KW Acetylation; Cytoplasm; Disease variant; Intellectual disability;
KW Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:19413330,
FT ECO:0007744|PubMed:22223895"
FT CHAIN 2..126
FT /note="Protein C10"
FT /id="PRO_0000065034"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:19413330,
FT ECO:0007744|PubMed:22223895"
FT VARIANT 51
FT /note="L -> Q (in TEMTYS; dbSNP:rs587776955)"
FT /evidence="ECO:0000269|PubMed:23453665"
FT /id="VAR_069774"
SQ SEQUENCE 126 AA; 13178 MW; 111588346C63FC17 CRC64;
MASASTQPAA LSAEQAKVVL AEVIQAFSAP ENAVRMDEAR DNACNDMGKM LQFVLPVATQ
IQQEVIKAYG FSCDGEGVLK FARLVKSYEA QDPEIASLSG KLKALFLPPM TLPPHGPAAG
GSVAAS
