CE112_HUMAN
ID CE112_HUMAN Reviewed; 955 AA.
AC Q8N8E3; Q6PIB5; Q8NCR4; Q8NFR4;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2006, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Centrosomal protein of 112 kDa;
DE Short=Cep112;
DE AltName: Full=Coiled-coil domain-containing protein 46;
GN Name=CEP112; Synonyms=CCDC46;
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 GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1-562 (ISOFORM 1).
RC TISSUE=Testis, and 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-567 (ISOFORM 1), AND VARIANT
RP GLU-551.
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 322-955 (ISOFORM 1).
RC TISSUE=Lung;
RA Zan Q., Guo J.H., Yu L.;
RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION.
RX PubMed=21399614; DOI=10.1038/emboj.2011.63;
RA Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I.,
RA Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M.,
RA Hyman A.A., Andersen J.S.;
RT "Novel asymmetrically localizing components of human centrosomes identified
RT by complementary proteomics methods.";
RL EMBO J. 30:1520-1535(2011).
RN [6]
RP VARIANTS SPGF44 166-ARG--ARG-955 DEL; TRP-692 AND CYS-702, CHARACTERIZATION
RP OF VARIANT SPGF44 166-ARG--ARG-955 DEL, AND INVOLVEMENT IN SPGF44.
RX PubMed=31654588; DOI=10.1111/cge.13662;
RA Sha Y., Wang X., Yuan J., Zhu X., Su Z., Zhang X., Xu X., Wei X.;
RT "Loss-of-function mutations in centrosomal protein 112 is associated with
RT human acephalic spermatozoa phenotype.";
RL Clin. Genet. 97:321-328(2020).
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000250}. Note=Localizes around spindle poles
CC in some cells. {ECO:0000269|PubMed:21399614}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N8E3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N8E3-2; Sequence=VSP_018338, VSP_018339;
CC -!- DISEASE: Spermatogenic failure 44 (SPGF44) [MIM:619044]: An autosomal
CC recessive infertility disorder caused by spermatogenesis defects and
CC characterized by the presence of acephalic spermatozoa in the semen of
CC affected individuals. {ECO:0000269|PubMed:31654588}. Note=The disease
CC may be caused by variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH37991.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 563.; Evidence={ECO:0000305};
CC Sequence=AAM49719.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AC004805; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105028; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006440; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC007716; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC087302; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006120; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029524; AAH29524.1; -; mRNA.
DR EMBL; BC037991; AAH37991.1; ALT_SEQ; mRNA.
DR EMBL; AK096929; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AF458591; AAM49719.1; ALT_INIT; mRNA.
DR CCDS; CCDS32710.1; -. [Q8N8E3-1]
DR CCDS; CCDS32711.1; -. [Q8N8E3-2]
DR RefSeq; NP_001032402.1; NM_001037325.2. [Q8N8E3-2]
DR RefSeq; NP_001186094.1; NM_001199165.2. [Q8N8E3-1]
DR RefSeq; XP_011522763.1; XM_011524461.2.
DR AlphaFoldDB; Q8N8E3; -.
DR BioGRID; 128362; 24.
DR IntAct; Q8N8E3; 11.
DR MINT; Q8N8E3; -.
DR STRING; 9606.ENSP00000376522; -.
DR GlyGen; Q8N8E3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N8E3; -.
DR PhosphoSitePlus; Q8N8E3; -.
DR BioMuta; CEP112; -.
DR DMDM; 97045680; -.
DR EPD; Q8N8E3; -.
DR jPOST; Q8N8E3; -.
DR MassIVE; Q8N8E3; -.
DR MaxQB; Q8N8E3; -.
DR PaxDb; Q8N8E3; -.
DR PeptideAtlas; Q8N8E3; -.
DR PRIDE; Q8N8E3; -.
DR ProteomicsDB; 72410; -. [Q8N8E3-1]
DR ProteomicsDB; 72411; -. [Q8N8E3-2]
DR Antibodypedia; 19170; 132 antibodies from 24 providers.
DR DNASU; 201134; -.
DR Ensembl; ENST00000317442.12; ENSP00000320592.5; ENSG00000154240.17. [Q8N8E3-2]
DR Ensembl; ENST00000392769.6; ENSP00000376522.2; ENSG00000154240.17. [Q8N8E3-1]
DR Ensembl; ENST00000535342.7; ENSP00000442784.2; ENSG00000154240.17. [Q8N8E3-1]
DR GeneID; 201134; -.
DR KEGG; hsa:201134; -.
DR MANE-Select; ENST00000535342.7; ENSP00000442784.2; NM_001199165.4; NP_001186094.1.
DR UCSC; uc002jfk.4; human. [Q8N8E3-1]
DR CTD; 201134; -.
DR DisGeNET; 201134; -.
DR GeneCards; CEP112; -.
DR HGNC; HGNC:28514; CEP112.
DR HPA; ENSG00000154240; Tissue enhanced (testis).
DR MalaCards; CEP112; -.
DR MIM; 618980; gene.
DR MIM; 619044; phenotype.
DR neXtProt; NX_Q8N8E3; -.
DR OpenTargets; ENSG00000154240; -.
DR PharmGKB; PA142672163; -.
DR VEuPathDB; HostDB:ENSG00000154240; -.
DR eggNOG; ENOG502QQAE; Eukaryota.
DR GeneTree; ENSGT00390000006544; -.
DR HOGENOM; CLU_131263_0_0_1; -.
DR InParanoid; Q8N8E3; -.
DR OMA; WEKRLHD; -.
DR OrthoDB; 319542at2759; -.
DR PhylomeDB; Q8N8E3; -.
DR TreeFam; TF328995; -.
DR PathwayCommons; Q8N8E3; -.
DR SignaLink; Q8N8E3; -.
DR BioGRID-ORCS; 201134; 12 hits in 1071 CRISPR screens.
DR ChiTaRS; CEP112; human.
DR GenomeRNAi; 201134; -.
DR Pharos; Q8N8E3; Tbio.
DR PRO; PR:Q8N8E3; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8N8E3; protein.
DR Bgee; ENSG00000154240; Expressed in sperm and 175 other tissues.
DR ExpressionAtlas; Q8N8E3; baseline and differential.
DR Genevisible; Q8N8E3; HS.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0060077; C:inhibitory synapse; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
DR GO; GO:0097120; P:receptor localization to synapse; IEA:Ensembl.
DR InterPro; IPR027831; DUF4485.
DR Pfam; PF14846; DUF4485; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Cytoskeleton;
KW Disease variant; Reference proteome.
FT CHAIN 1..955
FT /note="Centrosomal protein of 112 kDa"
FT /id="PRO_0000234508"
FT COILED 277..954
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..744
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_018338"
FT VAR_SEQ 745..797
FT /note="KQQLVELGLLREEEKQRATREHEIVVNKLKAESEKMKIELKKTHAAETEMTL
FT E -> MWASLSLDHPSAKENQALRLIEMREENGNVPKTEQAGSLKPLRDTGKSNLKEK
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_018339"
FT VARIANT 166..955
FT /note="Missing (in SPGF44; no protein detected in patient
FT cells)"
FT /evidence="ECO:0000269|PubMed:31654588"
FT /id="VAR_084997"
FT VARIANT 551
FT /note="K -> E (in dbSNP:rs17704679)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_050752"
FT VARIANT 692
FT /note="R -> W (in SPGF44; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31654588"
FT /id="VAR_084998"
FT VARIANT 702
FT /note="R -> C (in SPGF44; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31654588"
FT /id="VAR_084999"
FT CONFLICT 449
FT /note="C -> S (in Ref. 4; AAM49719)"
FT /evidence="ECO:0000305"
FT CONFLICT 623
FT /note="E -> K (in Ref. 4; AAM49719)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 955 AA; 112749 MW; 534B56635FD41406 CRC64;
MEVGSEEEKW EKLDAEFDHF VVDMKPFVLK LPHRTERQRC ALWIRKLCEP SGTGAGIMGR
KNRNLYAKLL LHMLKRGALE GPFTHRPEPG TLKILPSYMS IYFDEPNPAR AKGSSPEGLP
AWVLGELETS EHKLNESWKL SSGEDNTLVQ SPTDVYSREQ YTGKLRVRSH SLSPTHREDG
QNITPKICEV YSKKSPVSLD DSDIEARLNS WNLGIENPRY LRQKPIPVSL MTPKFSLRKS
SSFHDDHFLS RIREKELDMK TKMMEAKFHE EKLKLQQKHD ADVQKILERK NNEIEELKTL
YRSKQHETEE TIRKLEKKVQ TLIRDCQVIR ETKEDQIAEL KKICEQSTES LNNDWEKKLH
NAVAEMEQEK FDLQKQHTEN IQELLEDTNV RLNKMESEYM AQTQSTNHMI KELEARVQQL
TGEAENSNLQ RQKLIQEKAE LERCYQITCS ELQEVKARRN TLHKEKDHLV NDYEQNMKLL
QTKYDADINL LKQEHALSAS KASSMIEELE QNVCQLKQQL QESELQRKQQ LRDQENKFQM
EKSHLKHIYE KKAHDLQSEL DKGKEDTQKK IHKFEEALKE KEEQLTRVTE VQRLQAQQAD
AALEEFKRQV ELNSEKVYAE MKEQMEKVEA DLTRSKSLRE KQSKEFLWQL EDIRQRYEQQ
IVELKLEHEQ EKTHLLQQHN AEKDSLVRDH EREIENLEKQ LRAANMEHEN QIQEFKKRDA
QVIADMEAQV HKLREELINV NSQRKQQLVE LGLLREEEKQ RATREHEIVV NKLKAESEKM
KIELKKTHAA ETEMTLEKAN SKLKQIEKEY TQKLAKSSQI IAELQTTISS LKEENSQQQL
AAERRLQDVR QKFEDEKKQL IRDNDQAIKV LQDELENRSN QVRCAEKKLQ HKELESQEQI
TYIRQEYETK LKGLMPASLR QELEDTISSL KSQVNFLQKR ASILQEELTT YQGRR
