DBND1_HUMAN
ID DBND1_HUMAN Reviewed; 158 AA.
AC Q9H9R9; B4DQS3; Q69YT2; Q9BW25;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 16-JUN-2009, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Dysbindin domain-containing protein 1;
GN Name=DBNDD1;
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] (ISOFORMS 1 AND 3).
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=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Eye;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 122-158.
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-119, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=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 [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-95, 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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9H9R9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H9R9-2; Sequence=VSP_026214;
CC Name=3;
CC IsoId=Q9H9R9-3; Sequence=VSP_037541;
CC -!- SIMILARITY: Belongs to the dysbindin family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK022644; BAB14152.1; -; mRNA.
DR EMBL; AK298932; BAG61035.1; -; mRNA.
DR EMBL; AC092143; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000700; AAH00700.2; -; mRNA.
DR EMBL; AL713678; CAH10640.1; -; mRNA.
DR CCDS; CCDS10991.2; -. [Q9H9R9-2]
DR CCDS; CCDS42223.1; -. [Q9H9R9-1]
DR RefSeq; NP_001036075.1; NM_001042610.2. [Q9H9R9-1]
DR RefSeq; NP_001275637.1; NM_001288708.1.
DR RefSeq; NP_001275638.1; NM_001288709.1.
DR RefSeq; NP_076948.2; NM_024043.3. [Q9H9R9-2]
DR AlphaFoldDB; Q9H9R9; -.
DR BioGRID; 122478; 5.
DR IntAct; Q9H9R9; 1.
DR STRING; 9606.ENSP00000457625; -.
DR iPTMnet; Q9H9R9; -.
DR PhosphoSitePlus; Q9H9R9; -.
DR BioMuta; DBNDD1; -.
DR DMDM; 239938618; -.
DR EPD; Q9H9R9; -.
DR jPOST; Q9H9R9; -.
DR MassIVE; Q9H9R9; -.
DR PaxDb; Q9H9R9; -.
DR PeptideAtlas; Q9H9R9; -.
DR PRIDE; Q9H9R9; -.
DR ProteomicsDB; 81352; -. [Q9H9R9-1]
DR ProteomicsDB; 81353; -. [Q9H9R9-2]
DR ProteomicsDB; 81354; -. [Q9H9R9-3]
DR Antibodypedia; 51595; 23 antibodies from 11 providers.
DR DNASU; 79007; -.
DR Ensembl; ENST00000002501.11; ENSP00000002501.6; ENSG00000003249.15. [Q9H9R9-1]
DR Ensembl; ENST00000304733.8; ENSP00000306407.3; ENSG00000003249.15. [Q9H9R9-2]
DR GeneID; 79007; -.
DR KEGG; hsa:79007; -.
DR MANE-Select; ENST00000002501.11; ENSP00000002501.6; NM_001042610.3; NP_001036075.1.
DR UCSC; uc002fqe.2; human. [Q9H9R9-1]
DR CTD; 79007; -.
DR DisGeNET; 79007; -.
DR GeneCards; DBNDD1; -.
DR HGNC; HGNC:28455; DBNDD1.
DR HPA; ENSG00000003249; Tissue enhanced (brain, skeletal muscle).
DR neXtProt; NX_Q9H9R9; -.
DR OpenTargets; ENSG00000003249; -.
DR PharmGKB; PA144596443; -.
DR VEuPathDB; HostDB:ENSG00000003249; -.
DR eggNOG; ENOG502S0DA; Eukaryota.
DR GeneTree; ENSGT00390000018903; -.
DR HOGENOM; CLU_087637_0_0_1; -.
DR InParanoid; Q9H9R9; -.
DR OMA; CHSPTAE; -.
DR OrthoDB; 1524374at2759; -.
DR PhylomeDB; Q9H9R9; -.
DR PathwayCommons; Q9H9R9; -.
DR BioGRID-ORCS; 79007; 21 hits in 1072 CRISPR screens.
DR ChiTaRS; DBNDD1; human.
DR GenomeRNAi; 79007; -.
DR Pharos; Q9H9R9; Tdark.
DR PRO; PR:Q9H9R9; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9H9R9; protein.
DR Bgee; ENSG00000003249; Expressed in right frontal lobe and 114 other tissues.
DR ExpressionAtlas; Q9H9R9; baseline and differential.
DR Genevisible; Q9H9R9; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:InterPro.
DR GO; GO:0006469; P:negative regulation of protein kinase activity; IBA:GO_Central.
DR InterPro; IPR007531; Dysbindin.
DR PANTHER; PTHR16294; PTHR16294; 1.
DR Pfam; PF04440; Dysbindin; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..158
FT /note="Dysbindin domain-containing protein 1"
FT /id="PRO_0000292438"
FT REGION 1..50
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 93..158
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 95
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 119
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..11
FT /note="MEPPEGAGTGE -> MTQQWREVNEDREAVAQARSWQSLNLGDRDMGVSFIE
FT TALALSAARARRPLLTSHPPSRPFQPPKHTPSPPPAPRVNSRHPGRSVSLSLPSASQAP
FT PVPLASPEGRPHTVGAPHASTWKRTRGRQRARPPK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_037541"
FT VAR_SEQ 1..10
FT /note="MEPPEGAGTG -> MGETWKNICSTVRHGWWLRDHRMAGLPIPP (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026214"
FT CONFLICT 26
FT /note="P -> S (in Ref. 1; BAB14152)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 158 AA; 17042 MW; 498F80B5002A2C33 CRC64;
MEPPEGAGTG EIVKEAEVPQ AALGVPAQGT GDNGHTPVEE EVGGIPVPAP GLLQVTERRQ
PLSSVSSLEV HFDLLDLTEL TDMSDQELAE VFADSDDENL NTESPAGLHP LPRAGYLRSP
SWTRTRAEQS HEKQPLGDPE RQATVLDTFL TVERPQED
