CC112_HUMAN
ID CC112_HUMAN Reviewed; 446 AA.
AC Q8NEF3; Q6A334;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Coiled-coil domain-containing protein 112;
DE AltName: Full=Mutated in bladder cancer protein 1;
GN Name=CCDC112; Synonyms=MBC1;
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 [MRNA] (ISOFORM 2).
RC TISSUE=Kidney;
RA Mueller A., Zhang C., Kovacs G.;
RT "Cloning and mutational analysis of genes from the chromosomal region
RT 5q22.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASN-341
RP AND GLY-354.
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 Q8NEF3; A1L4K1: FSD2; NbExp=3; IntAct=EBI-745040, EBI-5661036;
CC Q8NEF3; Q15323: KRT31; NbExp=3; IntAct=EBI-745040, EBI-948001;
CC Q8NEF3; Q6A162: KRT40; NbExp=3; IntAct=EBI-745040, EBI-10171697;
CC Q8NEF3; Q15025: TNIP1; NbExp=3; IntAct=EBI-745040, EBI-357849;
CC Q8NEF3-2; Q9Y2T1: AXIN2; NbExp=3; IntAct=EBI-12095166, EBI-4400025;
CC Q8NEF3-2; Q9BW66: CINP; NbExp=3; IntAct=EBI-12095166, EBI-739784;
CC Q8NEF3-2; P23508: MCC; NbExp=3; IntAct=EBI-12095166, EBI-307531;
CC Q8NEF3-2; P40222: TXLNA; NbExp=3; IntAct=EBI-12095166, EBI-359793;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NEF3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NEF3-2; Sequence=VSP_031624;
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DR EMBL; AJ580807; CAE45342.1; -; mRNA.
DR EMBL; CH471086; EAW48966.1; -; Genomic_DNA.
DR EMBL; BC031242; AAH31242.1; -; mRNA.
DR CCDS; CCDS34213.1; -. [Q8NEF3-2]
DR CCDS; CCDS4117.1; -. [Q8NEF3-1]
DR RefSeq; NP_001035530.1; NM_001040440.2. [Q8NEF3-2]
DR RefSeq; NP_689762.2; NM_152549.2. [Q8NEF3-1]
DR AlphaFoldDB; Q8NEF3; -.
DR SMR; Q8NEF3; -.
DR BioGRID; 127513; 26.
DR IntAct; Q8NEF3; 21.
DR STRING; 9606.ENSP00000368931; -.
DR iPTMnet; Q8NEF3; -.
DR PhosphoSitePlus; Q8NEF3; -.
DR BioMuta; CCDC112; -.
DR DMDM; 172045813; -.
DR EPD; Q8NEF3; -.
DR MassIVE; Q8NEF3; -.
DR MaxQB; Q8NEF3; -.
DR PaxDb; Q8NEF3; -.
DR PeptideAtlas; Q8NEF3; -.
DR PRIDE; Q8NEF3; -.
DR ProteomicsDB; 73157; -. [Q8NEF3-1]
DR ProteomicsDB; 73158; -. [Q8NEF3-2]
DR Antibodypedia; 25419; 151 antibodies from 19 providers.
DR DNASU; 153733; -.
DR Ensembl; ENST00000379611.10; ENSP00000368931.5; ENSG00000164221.13. [Q8NEF3-2]
DR Ensembl; ENST00000395557.4; ENSP00000378925.4; ENSG00000164221.13. [Q8NEF3-1]
DR Ensembl; ENST00000512261.5; ENSP00000423712.1; ENSG00000164221.13. [Q8NEF3-1]
DR GeneID; 153733; -.
DR KEGG; hsa:153733; -.
DR MANE-Select; ENST00000379611.10; ENSP00000368931.5; NM_001040440.3; NP_001035530.1. [Q8NEF3-2]
DR UCSC; uc003kqy.3; human. [Q8NEF3-1]
DR CTD; 153733; -.
DR DisGeNET; 153733; -.
DR GeneCards; CCDC112; -.
DR HGNC; HGNC:28599; CCDC112.
DR HPA; ENSG00000164221; Tissue enhanced (testis).
DR neXtProt; NX_Q8NEF3; -.
DR OpenTargets; ENSG00000164221; -.
DR PharmGKB; PA145008783; -.
DR VEuPathDB; HostDB:ENSG00000164221; -.
DR eggNOG; ENOG502QUHE; Eukaryota.
DR GeneTree; ENSGT00940000153988; -.
DR InParanoid; Q8NEF3; -.
DR OMA; AIPSWRQ; -.
DR OrthoDB; 1597123at2759; -.
DR PhylomeDB; Q8NEF3; -.
DR TreeFam; TF329583; -.
DR PathwayCommons; Q8NEF3; -.
DR SignaLink; Q8NEF3; -.
DR BioGRID-ORCS; 153733; 24 hits in 1081 CRISPR screens.
DR ChiTaRS; CCDC112; human.
DR GenomeRNAi; 153733; -.
DR Pharos; Q8NEF3; Tbio.
DR PRO; PR:Q8NEF3; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8NEF3; protein.
DR Bgee; ENSG00000164221; Expressed in cortical plate and 153 other tissues.
DR ExpressionAtlas; Q8NEF3; baseline and differential.
DR Genevisible; Q8NEF3; HS.
DR InterPro; IPR039902; CCDC148/CCDC112.
DR PANTHER; PTHR21549; PTHR21549; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..446
FT /note="Coiled-coil domain-containing protein 112"
FT /id="PRO_0000320160"
FT REGION 253..272
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 390..430
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 35..116
FT /evidence="ECO:0000255"
FT COILED 219..400
FT /evidence="ECO:0000255"
FT COMPBIAS 390..417
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MAALTTVVVAAAATAVAGAVAGAGAATGTGVGATPAPQQSDGCFSTS
FT GGIRPFHLQNWKQKVNQTKKAEFVRTAEKFKNQVINM (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_031624"
FT VARIANT 32
FT /note="H -> L (in dbSNP:rs34457718)"
FT /id="VAR_039147"
FT VARIANT 144
FT /note="S -> N (in dbSNP:rs34056787)"
FT /id="VAR_039148"
FT VARIANT 341
FT /note="K -> N (in dbSNP:rs17856922)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_039149"
FT VARIANT 354
FT /note="E -> G (in dbSNP:rs17852930)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_039150"
SQ SEQUENCE 446 AA; 53565 MW; BECB403C2B958EB1 CRC64;
MEKDKHSHFY NQKSDFRIEH SMLEELENKL IHSRKTERAK IQQQLAKIHN NVKKLQHQLK
DVKPTPDFVE KLREMMEEIE NAINTFKEEQ RLIYEELIKE EKTTNNELSA ISRKIDTWAL
GNSETEKAFR AISSKVPVDK VTPSTLPEEV LDFEKFLQQT GGRQGAWDDY DHQNFVKVRN
KHKGKPTFME EVLEHLPGKT QDEVQQHEKW YQKFLALEER KKESIQIWKT KKQQKREEIF
KLKEKADNTP VLFHNKQEDN QKQKEEQRKK QKLAVEAWKK QKSIEMSMKC ASQLKEEEEK
EKKHQKERQR QFKLKLLLES YTQQKKEQEE FLRLEKEIRE KAEKAEKRKN AADEISRFQE
RDLHKLELKI LDRQAKEDEK SQKQRRLAKL KEKVENNVSR DPSRLYKPTK GWEERTKKIG
PTGSGPLLHI PHRAIPTWRQ GIQRRV
