CC174_HUMAN
ID CC174_HUMAN Reviewed; 467 AA.
AC Q6PII3; Q96CS5;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 3.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Coiled-coil domain-containing protein 174;
GN Name=CCDC174; Synonyms=C3orf19;
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=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-197, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INVOLVEMENT IN
RP IHPMR.
RX PubMed=26358778; DOI=10.1093/hmg/ddv357;
RA Volodarsky M., Lichtig H., Leibson T., Sadaka Y., Kadir R., Perez Y.,
RA Liani-Leibson K., Gradstein L., Shaco-Levy R., Shorer Z., Frank D.,
RA Birk O.S.;
RT "CDC174, a novel component of the exon junction complex whose mutation
RT underlies a syndrome of hypotonia and psychomotor developmental delay.";
RL Hum. Mol. Genet. 24:6485-6491(2015).
CC -!- FUNCTION: Probably involved in neuronal development.
CC {ECO:0000269|PubMed:26358778}.
CC -!- INTERACTION:
CC Q6PII3; P09917: ALOX5; NbExp=3; IntAct=EBI-747830, EBI-79934;
CC Q6PII3; P38919: EIF4A3; NbExp=4; IntAct=EBI-747830, EBI-299104;
CC Q6PII3; P41227: NAA10; NbExp=3; IntAct=EBI-747830, EBI-747693;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26358778}. Note=In
CC the nucleus of neuroblastoma cells, it colocalizes with EIF4A3, a
CC component of exon junction complex. {ECO:0000269|PubMed:26358778}.
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:26358778}.
CC -!- DISEASE: Hypotonia, infantile, with psychomotor retardation (IHPMR)
CC [MIM:616816]: An autosomal recessive disorder characterized by
CC congenital axial hypotonia, weakness of the abducens nerve, psychomotor
CC developmental delay with brain ventriculomegaly, variable thinning of
CC corpus callosum and cardiac septal defects.
CC {ECO:0000269|PubMed:26358778}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AC090952; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC013999; AAH13999.2; -; mRNA.
DR EMBL; BC033897; AAH33897.2; -; mRNA.
DR CCDS; CCDS2620.2; -.
DR RefSeq; NP_057558.3; NM_016474.4.
DR AlphaFoldDB; Q6PII3; -.
DR SMR; Q6PII3; -.
DR BioGRID; 119402; 35.
DR IntAct; Q6PII3; 16.
DR STRING; 9606.ENSP00000373304; -.
DR iPTMnet; Q6PII3; -.
DR PhosphoSitePlus; Q6PII3; -.
DR BioMuta; CCDC174; -.
DR DMDM; 126302528; -.
DR EPD; Q6PII3; -.
DR jPOST; Q6PII3; -.
DR MassIVE; Q6PII3; -.
DR MaxQB; Q6PII3; -.
DR PaxDb; Q6PII3; -.
DR PeptideAtlas; Q6PII3; -.
DR PRIDE; Q6PII3; -.
DR ProteomicsDB; 67157; -.
DR Antibodypedia; 45072; 50 antibodies from 11 providers.
DR DNASU; 51244; -.
DR Ensembl; ENST00000383794.7; ENSP00000373304.3; ENSG00000154781.17.
DR GeneID; 51244; -.
DR KEGG; hsa:51244; -.
DR MANE-Select; ENST00000383794.7; ENSP00000373304.3; NM_016474.5; NP_057558.3.
DR UCSC; uc003byw.4; human.
DR CTD; 51244; -.
DR DisGeNET; 51244; -.
DR GeneCards; CCDC174; -.
DR HGNC; HGNC:28033; CCDC174.
DR HPA; ENSG00000154781; Low tissue specificity.
DR MalaCards; CCDC174; -.
DR MIM; 616735; gene.
DR MIM; 616816; phenotype.
DR neXtProt; NX_Q6PII3; -.
DR OpenTargets; ENSG00000154781; -.
DR Orphanet; 467176; Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome.
DR PharmGKB; PA134914840; -.
DR VEuPathDB; HostDB:ENSG00000154781; -.
DR eggNOG; ENOG502QWJ9; Eukaryota.
DR GeneTree; ENSGT00440000033958; -.
DR HOGENOM; CLU_037216_1_0_1; -.
DR InParanoid; Q6PII3; -.
DR OMA; DQMTKGD; -.
DR OrthoDB; 1585377at2759; -.
DR PhylomeDB; Q6PII3; -.
DR TreeFam; TF323679; -.
DR PathwayCommons; Q6PII3; -.
DR SignaLink; Q6PII3; -.
DR BioGRID-ORCS; 51244; 483 hits in 1094 CRISPR screens.
DR ChiTaRS; CCDC174; human.
DR GenomeRNAi; 51244; -.
DR Pharos; Q6PII3; Tdark.
DR PRO; PR:Q6PII3; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q6PII3; protein.
DR Bgee; ENSG00000154781; Expressed in calcaneal tendon and 173 other tissues.
DR ExpressionAtlas; Q6PII3; baseline and differential.
DR Genevisible; Q6PII3; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR InterPro; IPR025066; CCDC174-like.
DR PANTHER; PTHR15885; PTHR15885; 1.
DR Pfam; PF13300; DUF4078; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..467
FT /note="Coiled-coil domain-containing protein 174"
FT /id="PRO_0000251956"
FT REGION 40..77
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 124..162
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 299..363
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 378..453
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 63..99
FT /evidence="ECO:0000255"
FT COILED 267..309
FT /evidence="ECO:0000255"
FT COMPBIAS 48..62
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 63..77
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 124..143
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 306..321
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 346..363
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 400..434
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 197
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 436
FT /note="T -> M (in dbSNP:rs60239620)"
FT /id="VAR_061573"
FT CONFLICT 158
FT /note="P -> H (in Ref. 1; AAH33897)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 467 AA; 53958 MW; B106979B7AC37028 CRC64;
MDRRKKPLDV TASSLVDLKA ELFRKQEEFK QEKLLKDSGV FGKPKTTNKK PSIWSKQNVG
VSNRAEKDAE QKIEEQKTLD KAREKLEEKA KLYEKMTKGD FIDEEVEDMY LVDFTQKIID
KRKEMEASGA HRDSQKAGER DDDEENLPEG EIPPPQDPSE EWVDYVDSLG RSRRCMRKDL
PDLLEMDKNL QGRLFISPAN EKTLLSEDMR KELQRQQWEE EEREALKRPM GPVHYEDIRE
NEARQLGVGY FAFARDKELR NKQMKTLEML REQTTDQRTK RENIKEKRKA ILEARLAKLR
QKKMKKSKEG GTEEENRDGD VIGPLPPEPE AVPTPRPAAQ SSKVEVIVQE RKDTKPGVPH
IREWDRGKEF SFGYWSKRQS DLRAERDPEF APPSDYFVGQ KRTGFSSSQA WSRPGPAQSD
PGQCPDQSHG PSPEHTSPTP APDNPPQAPT VTFKTLDDMI SYYKQVT
