DCBD1_HUMAN
ID DCBD1_HUMAN Reviewed; 715 AA.
AC Q8N8Z6; Q5H992; Q8IYK5; Q8N7L9; Q96NH2;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Discoidin, CUB and LCCL domain-containing protein 1;
DE Flags: Precursor;
GN Name=DCBLD1;
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=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=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-614, 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).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N8Z6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N8Z6-2; Sequence=VSP_040221, VSP_040222;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04663.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC05258.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK098194; BAC05258.1; ALT_INIT; mRNA.
DR EMBL; AK095973; BAC04663.1; ALT_FRAME; mRNA.
DR EMBL; AL132671; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z85999; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC035671; AAH35671.1; -; mRNA.
DR CCDS; CCDS34522.1; -. [Q8N8Z6-2]
DR RefSeq; NP_775945.1; NM_173674.2. [Q8N8Z6-2]
DR AlphaFoldDB; Q8N8Z6; -.
DR SMR; Q8N8Z6; -.
DR BioGRID; 130203; 31.
DR IntAct; Q8N8Z6; 8.
DR MINT; Q8N8Z6; -.
DR STRING; 9606.ENSP00000296955; -.
DR GlyGen; Q8N8Z6; 6 sites.
DR iPTMnet; Q8N8Z6; -.
DR PhosphoSitePlus; Q8N8Z6; -.
DR SwissPalm; Q8N8Z6; -.
DR BioMuta; DCBLD1; -.
DR DMDM; 50400555; -.
DR EPD; Q8N8Z6; -.
DR jPOST; Q8N8Z6; -.
DR MassIVE; Q8N8Z6; -.
DR MaxQB; Q8N8Z6; -.
DR PaxDb; Q8N8Z6; -.
DR PeptideAtlas; Q8N8Z6; -.
DR PRIDE; Q8N8Z6; -.
DR ProteomicsDB; 72477; -. [Q8N8Z6-1]
DR ProteomicsDB; 72478; -. [Q8N8Z6-2]
DR Antibodypedia; 46584; 21 antibodies from 10 providers.
DR DNASU; 285761; -.
DR Ensembl; ENST00000296955.12; ENSP00000296955.8; ENSG00000164465.19. [Q8N8Z6-2]
DR Ensembl; ENST00000338728.10; ENSP00000342422.6; ENSG00000164465.19. [Q8N8Z6-1]
DR GeneID; 285761; -.
DR KEGG; hsa:285761; -.
DR MANE-Select; ENST00000338728.10; ENSP00000342422.6; NM_001366458.2; NP_001353387.1.
DR UCSC; uc003pxs.4; human. [Q8N8Z6-1]
DR CTD; 285761; -.
DR DisGeNET; 285761; -.
DR GeneCards; DCBLD1; -.
DR HGNC; HGNC:21479; DCBLD1.
DR HPA; ENSG00000164465; Low tissue specificity.
DR neXtProt; NX_Q8N8Z6; -.
DR OpenTargets; ENSG00000164465; -.
DR PharmGKB; PA134903108; -.
DR VEuPathDB; HostDB:ENSG00000164465; -.
DR eggNOG; ENOG502QW5E; Eukaryota.
DR GeneTree; ENSGT00940000157334; -.
DR HOGENOM; CLU_016654_3_0_1; -.
DR InParanoid; Q8N8Z6; -.
DR OMA; SEFENHY; -.
DR OrthoDB; 317808at2759; -.
DR PhylomeDB; Q8N8Z6; -.
DR PathwayCommons; Q8N8Z6; -.
DR SignaLink; Q8N8Z6; -.
DR BioGRID-ORCS; 285761; 14 hits in 1083 CRISPR screens.
DR ChiTaRS; DCBLD1; human.
DR GenomeRNAi; 285761; -.
DR Pharos; Q8N8Z6; Tbio.
DR PRO; PR:Q8N8Z6; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8N8Z6; protein.
DR Bgee; ENSG00000164465; Expressed in secondary oocyte and 145 other tissues.
DR ExpressionAtlas; Q8N8Z6; baseline and differential.
DR Genevisible; Q8N8Z6; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0038023; F:signaling receptor activity; IBA:GO_Central.
DR CDD; cd00041; CUB; 1.
DR CDD; cd00057; FA58C; 1.
DR Gene3D; 2.170.130.20; -; 1.
DR Gene3D; 2.60.120.290; -; 1.
DR InterPro; IPR000859; CUB_dom.
DR InterPro; IPR000421; FA58C.
DR InterPro; IPR008979; Galactose-bd-like_sf.
DR InterPro; IPR004043; LCCL.
DR InterPro; IPR036609; LCCL_sf.
DR InterPro; IPR035914; Sperma_CUB_dom_sf.
DR Pfam; PF00431; CUB; 1.
DR Pfam; PF00754; F5_F8_type_C; 1.
DR Pfam; PF03815; LCCL; 1.
DR SMART; SM00042; CUB; 1.
DR SMART; SM00231; FA58C; 1.
DR SMART; SM00603; LCCL; 1.
DR SUPFAM; SSF49785; SSF49785; 1.
DR SUPFAM; SSF49854; SSF49854; 1.
DR SUPFAM; SSF69848; SSF69848; 1.
DR PROSITE; PS01180; CUB; 1.
DR PROSITE; PS01285; FA58C_1; 1.
DR PROSITE; PS50022; FA58C_3; 1.
DR PROSITE; PS50820; LCCL; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Membrane;
KW Phosphoprotein; Reference proteome; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..34
FT /evidence="ECO:0000255"
FT CHAIN 35..715
FT /note="Discoidin, CUB and LCCL domain-containing protein 1"
FT /id="PRO_0000021076"
FT TOPO_DOM 35..459
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 460..480
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 481..715
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 41..150
FT /note="CUB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00059"
FT DOMAIN 152..248
FT /note="LCCL"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00123"
FT DOMAIN 248..412
FT /note="F5/8 type C"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081"
FT REGION 278..312
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 619..702
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 278..307
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 677..702
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 513
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9D4J3"
FT MOD_RES 614
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CARBOHYD 64
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 124
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 277
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 351
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 418
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 455
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 41..68
FT /evidence="ECO:0000250"
FT DISULFID 94..112
FT /evidence="ECO:0000250"
FT DISULFID 158..174
FT /evidence="ECO:0000250"
FT DISULFID 178..200
FT /evidence="ECO:0000250"
FT VAR_SEQ 539
FT /note="D -> G (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040221"
FT VAR_SEQ 540..715
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040222"
FT CONFLICT 57
FT /note="N -> D (in Ref. 1; BAC04663)"
FT /evidence="ECO:0000305"
FT CONFLICT 369
FT /note="F -> L (in Ref. 1; BAC05258)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 715 AA; 77920 MW; F8724D094F66EF2E CRC64;
MVPGARGGGA LARAAGRGLL ALLLAVSAPL RLQAEELGDG CGHLVTYQDS GTMTSKNYPG
TYPNHTVCEK TITVPKGKRL ILRLGDLDIE SQTCASDYLL FTSSSDQYGP YCGSMTVPKE
LLLNTSEVTV RFESGSHISG RGFLLTYASS DHPDLITCLE RASHYLKTEY SKFCPAGCRD
VAGDISGNMV DGYRDTSLLC KAAIHAGIIA DELGGQISVL QRKGISRYEG ILANGVLSRD
GSLSDKRFLF TSNGCSRSLS FEPDGQIRAS SSWQSVNESG DQVHWSPGQA RLQDQGPSWA
SGDSSNNHKP REWLEIDLGE KKKITGIRTT GSTQSNFNFY VKSFVMNFKN NNSKWKTYKG
IVNNEEKVFQ GNSNFRDPVQ NNFIPPIVAR YVRVVPQTWH QRIALKVELI GCQITQGNDS
LVWRKTSQST SVSTKKEDET ITRPIPSEET STGINITTVA IPLVLLVVLV FAGMGIFAAF
RKKKKKGSPY GSAEAQKTDC WKQIKYPFAR HQSAEFTISY DNEKEMTQKL DLITSDMADY
QQPLMIGTGT VTRKGSTFRP MDTDAEEAGV STDAGGHYDC PQRAGRHEYA LPLAPPEPEY
ATPIVERHVL RAHTFSAQSG YRVPGPQPGH KHSLSSGGFS PVAGVGAQDG DYQRPHSAQP
ADRGYDRPKA VSALATESGH PDSQKPPTHP GTSDSYSAPR DCLTPLNQTA MTALL