DIP2C_HUMAN
ID DIP2C_HUMAN Reviewed; 1556 AA.
AC Q9Y2E4; B4DPI5; Q5SS78;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2003, sequence version 2.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Disco-interacting protein 2 homolog C;
DE Short=DIP2 homolog C;
GN Name=DIP2C; Synonyms=KIAA0934;
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 MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Kidney;
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 GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
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 [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-264, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [7]
RP VARIANTS [LARGE SCALE ANALYSIS] GLU-586; SER-622 AND MET-1264.
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., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y2E4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y2E4-2; Sequence=VSP_056898, VSP_056899, VSP_056900;
CC -!- SIMILARITY: Belongs to the DIP2 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA76778.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB023151; BAA76778.2; ALT_INIT; mRNA.
DR EMBL; AK298353; BAG60597.1; -; mRNA.
DR EMBL; AL358216; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL157709; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL359957; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL603831; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL669841; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC063313; AAH63313.1; -; mRNA.
DR CCDS; CCDS7054.1; -. [Q9Y2E4-1]
DR RefSeq; NP_055789.1; NM_014974.2. [Q9Y2E4-1]
DR AlphaFoldDB; Q9Y2E4; -.
DR SMR; Q9Y2E4; -.
DR BioGRID; 116631; 8.
DR IntAct; Q9Y2E4; 2.
DR STRING; 9606.ENSP00000280886; -.
DR CarbonylDB; Q9Y2E4; -.
DR iPTMnet; Q9Y2E4; -.
DR PhosphoSitePlus; Q9Y2E4; -.
DR BioMuta; DIP2C; -.
DR DMDM; 29429225; -.
DR EPD; Q9Y2E4; -.
DR jPOST; Q9Y2E4; -.
DR MassIVE; Q9Y2E4; -.
DR MaxQB; Q9Y2E4; -.
DR PaxDb; Q9Y2E4; -.
DR PeptideAtlas; Q9Y2E4; -.
DR PRIDE; Q9Y2E4; -.
DR ProteomicsDB; 4789; -.
DR ProteomicsDB; 85746; -. [Q9Y2E4-1]
DR Antibodypedia; 23712; 23 antibodies from 8 providers.
DR DNASU; 22982; -.
DR Ensembl; ENST00000280886.12; ENSP00000280886.6; ENSG00000151240.17. [Q9Y2E4-1]
DR GeneID; 22982; -.
DR KEGG; hsa:22982; -.
DR MANE-Select; ENST00000280886.12; ENSP00000280886.6; NM_014974.3; NP_055789.1.
DR UCSC; uc001ifp.4; human. [Q9Y2E4-1]
DR CTD; 22982; -.
DR DisGeNET; 22982; -.
DR GeneCards; DIP2C; -.
DR HGNC; HGNC:29150; DIP2C.
DR HPA; ENSG00000151240; Low tissue specificity.
DR MIM; 611380; gene.
DR neXtProt; NX_Q9Y2E4; -.
DR OpenTargets; ENSG00000151240; -.
DR PharmGKB; PA134961070; -.
DR VEuPathDB; HostDB:ENSG00000151240; -.
DR eggNOG; KOG3628; Eukaryota.
DR GeneTree; ENSGT00950000182997; -.
DR HOGENOM; CLU_001345_0_0_1; -.
DR InParanoid; Q9Y2E4; -.
DR OMA; TIMGMCK; -.
DR OrthoDB; 539697at2759; -.
DR PhylomeDB; Q9Y2E4; -.
DR TreeFam; TF312871; -.
DR PathwayCommons; Q9Y2E4; -.
DR SignaLink; Q9Y2E4; -.
DR BioGRID-ORCS; 22982; 8 hits in 1074 CRISPR screens.
DR ChiTaRS; DIP2C; human.
DR GenomeRNAi; 22982; -.
DR Pharos; Q9Y2E4; Tbio.
DR PRO; PR:Q9Y2E4; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9Y2E4; protein.
DR Bgee; ENSG00000151240; Expressed in cartilage tissue and 213 other tissues.
DR ExpressionAtlas; Q9Y2E4; baseline and differential.
DR Genevisible; Q9Y2E4; HS.
DR CDD; cd05905; Dip2; 2.
DR Gene3D; 3.30.300.30; -; 2.
DR Gene3D; 3.40.50.12780; -; 2.
DR InterPro; IPR045851; AMP-bd_C_sf.
DR InterPro; IPR000873; AMP-dep_Synth/Lig.
DR InterPro; IPR042099; ANL_N_sf.
DR InterPro; IPR037337; Dip2-like_dom.
DR InterPro; IPR010506; DMAP1-bd.
DR Pfam; PF00501; AMP-binding; 2.
DR Pfam; PF06464; DMAP_binding; 1.
DR SMART; SM01137; DMAP_binding; 1.
DR PROSITE; PS51912; DMAP1_BIND; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..1556
FT /note="Disco-interacting protein 2 homolog C"
FT /id="PRO_0000050782"
FT DOMAIN 7..120
FT /note="DMAP1-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01260"
FT REGION 47..157
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 170..189
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 77..112
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 117..157
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 170..187
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 264
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT VAR_SEQ 1..679
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056898"
FT VAR_SEQ 996..1050
FT /note="GAIANSLTCVQLHKRAEKIAVMLMERGHLQDGDHVALVYPPGIDLIAAFYGC
FT LYA -> VRRGAGLPWLLASRGLAWFLGALLLLSLNPFASVLWEFFLCFAILTETFVPR
FT DCF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056899"
FT VAR_SEQ 1051..1556
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056900"
FT VARIANT 586
FT /note="A -> E (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035905"
FT VARIANT 622
FT /note="G -> S (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs771008735)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035906"
FT VARIANT 1264
FT /note="V -> M (in a breast cancer sample; somatic mutation;
FT dbSNP:rs929297365)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035907"
SQ SEQUENCE 1556 AA; 170767 MW; E4CA7F0719C384EA CRC64;
MADRSLEGMA LPLEVRARLA ELELELSEGD ITQKGYEKKR SKLIGAYLPQ PPRVDQALPQ
ERRAPVTPSS ASRYHRRRSS GSRDERYRSD VHTEAVQAAL AKHKERKMAV PMPSKRRSLV
VQTSMDAYTP PDTSSGSEDE GSVQGDSQGT PTSSQGSINM EHWISQAIHG STTSTTSSSS
TQSGGSGAAH RLADVMAQTH IENHSAPPDV TTYTSEHSIQ VERPQGSTGS RTAPKYGNAE
LMETGDGVPV SSRVSAKIQQ LVNTLKRPKR PPLREFFVDD FEELLEVQQP DPNQPKPEGA
QMLAMRGEQL GVVTNWPPSL EAALQRWGTI SPKAPCLTTM DTNGKPLYIL TYGKLWTRSM
KVAYSILHKL GTKQEPMVRP GDRVALVFPN NDPAAFMAAF YGCLLAEVVP VPIEVPLTRK
DAGSQQIGFL LGSCGVTVAL TSDACHKGLP KSPTGEIPQF KGWPKLLWFV TESKHLSKPP
RDWFPHIKDA NNDTAYIEYK TCKDGSVLGV TVTRTALLTH CQALTQACGY TEAETIVNVL
DFKKDVGLWH GILTSVMNMM HVISIPYSLM KVNPLSWIQK VCQYKAKVAC VKSRDMHWAL
VAHRDQRDIN LSSLRMLIVA DGANPWSISS CDAFLNVFQS KGLRQEVICP CASSPEALTV
AIRRPTDDSN QPPGRGVLSM HGLTYGVIRV DSEEKLSVLT VQDVGLVMPG AIMCSVKPDG
VPQLCRTDEI GELCVCAVAT GTSYYGLSGM TKNTFEVFPM TSSGAPISEY PFIRTGLLGF
VGPGGLVFVV GKMDGLMVVS GRRHNADDIV ATALAVEPMK FVYRGRIAVF SVTVLHDERI
VIVAEQRPDS TEEDSFQWMS RVLQAIDSIH QVGVYCLALV PANTLPKTPL GGIHLSETKQ
LFLEGSLHPC NVLMCPHTCV TNLPKPRQKQ PEIGPASVMV GNLVSGKRIA QASGRDLGQI
EDNDQARKFL FLSEVLQWRA QTTPDHILYT LLNCRGAIAN SLTCVQLHKR AEKIAVMLME
RGHLQDGDHV ALVYPPGIDL IAAFYGCLYA GCVPITVRPP HPQNIATTLP TVKMIVEVSR
SACLMTTQLI CKLLRSREAA AAVDVRTWPL ILDTDDLPKK RPAQICKPCN PDTLAYLDFS
VSTTGMLAGV KMSHAATSAF CRSIKLQCEL YPSREVAICL DPYCGLGFVL WCLCSVYSGH
QSILIPPSEL ETNPALWLLA VSQYKVRDTF CSYSVMELCT KGLGSQTESL KARGLDLSRV
RTCVVVAEER PRIALTQSFS KLFKDLGLHP RAVSTSFGCR VNLAICLQGT SGPDPTTVYV
DMRALRHDRV RLVERGSPHS LPLMESGKIL PGVRIIIANP ETKGPLGDSH LGEIWVHSAH
NASGYFTIYG DESLQSDHFN SRLSFGDTQT IWARTGYLGF LRRTELTDAN GERHDALYVV
GALDEAMELR GMRYHPIDIE TSVIRAHKSV TECAVFTWTN LLVVVVELDG SEQEALDLVP
LVTNVVLEEH YLIVGVVVVV DIGVIPINSR GEKQRMHLRD GFLADQLDPI YVAYNM
