C2D4D_HUMAN
ID C2D4D_HUMAN Reviewed; 353 AA.
AC B7Z1M9; B2RXG8;
DT 15-JUN-2010, integrated into UniProtKB/Swiss-Prot.
DT 15-JUN-2010, sequence version 2.
DT 03-AUG-2022, entry version 81.
DE RecName: Full=C2 calcium-dependent domain-containing protein 4D;
GN Name=C2CD4D; Synonyms=FAM148D;
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].
RC TISSUE=Cerebellum;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
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).
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DR EMBL; AK293673; BAH11565.1; -; mRNA.
DR EMBL; AL589765; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC157847; AAI57848.1; -; mRNA.
DR EMBL; BC171843; AAI71843.1; -; mRNA.
DR CCDS; CCDS44224.1; -.
DR RefSeq; NP_001129475.1; NM_001136003.1.
DR RefSeq; XP_011507357.1; XM_011509055.2.
DR RefSeq; XP_016855478.1; XM_016999989.1.
DR AlphaFoldDB; B7Z1M9; -.
DR SMR; B7Z1M9; -.
DR BioGRID; 937613; 1.
DR IntAct; B7Z1M9; 1.
DR STRING; 9606.ENSP00000389554; -.
DR iPTMnet; B7Z1M9; -.
DR PhosphoSitePlus; B7Z1M9; -.
DR BioMuta; C2CD4D; -.
DR PaxDb; B7Z1M9; -.
DR PeptideAtlas; B7Z1M9; -.
DR PRIDE; B7Z1M9; -.
DR ProteomicsDB; 6351; -.
DR Antibodypedia; 76708; 2 antibodies from 2 providers.
DR DNASU; 100191040; -.
DR Ensembl; ENST00000454109.1; ENSP00000389554.1; ENSG00000225556.1.
DR GeneID; 100191040; -.
DR KEGG; hsa:100191040; -.
DR UCSC; uc010pdq.2; human.
DR CTD; 100191040; -.
DR GeneCards; C2CD4D; -.
DR HGNC; HGNC:37210; C2CD4D.
DR HPA; ENSG00000225556; Tissue enhanced (brain, skin).
DR neXtProt; NX_B7Z1M9; -.
DR PharmGKB; PA165750504; -.
DR VEuPathDB; HostDB:ENSG00000225556; -.
DR eggNOG; KOG4216; Eukaryota.
DR GeneTree; ENSGT00940000163537; -.
DR HOGENOM; CLU_051964_0_0_1; -.
DR InParanoid; B7Z1M9; -.
DR OMA; CAFLPES; -.
DR OrthoDB; 1256488at2759; -.
DR PhylomeDB; B7Z1M9; -.
DR TreeFam; TF330989; -.
DR PathwayCommons; B7Z1M9; -.
DR BioGRID-ORCS; 100191040; 16 hits in 1057 CRISPR screens.
DR GenomeRNAi; 100191040; -.
DR Pharos; B7Z1M9; Tdark.
DR PRO; PR:B7Z1M9; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; B7Z1M9; protein.
DR Bgee; ENSG00000225556; Expressed in skin of leg and 83 other tissues.
DR Gene3D; 2.60.40.150; -; 1.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR043549; C2C4C/C2C4D.
DR PANTHER; PTHR46291; PTHR46291; 1.
DR Pfam; PF00168; C2; 1.
DR SMART; SM00239; C2; 1.
DR SUPFAM; SSF49562; SSF49562; 1.
DR PROSITE; PS50004; C2; 1.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..353
FT /note="C2 calcium-dependent domain-containing protein 4D"
FT /id="PRO_0000394960"
FT DOMAIN 217..343
FT /note="C2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 135..191
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 288
FT /note="E -> G (in Ref. 1; BAH11565)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 353 AA; 37583 MW; 890A6E57505B10A4 CRC64;
MWLLEKAGYK VGAAEPAARW APSGLFSKRR APGPPTSACP NVLTPDRIPQ FFIPPRLPDP
GGAVPAARRH VAGRGLPATC SLPHLAGREG WAFLPESPHT RRRESLFHGP PPAPAGGLPA
AQSRLHVSAP DLRLCRAPDS DTASSPDSSP FGSPRPGLGR RRVSRPHSLS PEKASSADTS
PHSPRRAGPP TPPLFHLDFL CCQLRPTRES VLRLGPRGGQ LRLSTEYQAG PGRLRLRLVS
AEGLPRPRSR PGSGGGGCCV VLRLRPRVRP REQQSRVVKC SANPIFNEDF FFDGLGPPDL
AARSLRAKVL DRGAGLRRDV LLGECETPLI ALLPPLGGGL GPGSSLAPTH LSL
