Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1793
Gene name Gene Name - the full gene name approved by the HGNC.	Dedicator of cytokinesis 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DOCK1
Synonyms (NCBI Gene) Gene synonyms aliases	DOCK180, ced5
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q26.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencin

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SNP ID	Visualize variation	Clinical significance	Consequence
rs767858333	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047082	hsa-miR-183-5p	CLASH	23622248
MIRT038422	hsa-miR-296-3p	CLASH	23622248
MIRT054619	hsa-miR-155-5p	Immunocytochemistry, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24604078
MIRT574169	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT574168	hsa-miR-4455	PAR-CLIP	20371350
MIRT574167	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT574169	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT574168	hsa-miR-4455	PAR-CLIP	20371350
MIRT574167	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT942782	hsa-miR-105	CLIP-seq
MIRT942783	hsa-miR-1228	CLIP-seq
MIRT942784	hsa-miR-1271	CLIP-seq
MIRT942785	hsa-miR-1273f	CLIP-seq
MIRT942786	hsa-miR-1287	CLIP-seq
MIRT942787	hsa-miR-182	CLIP-seq
MIRT942788	hsa-miR-186	CLIP-seq
MIRT942789	hsa-miR-224	CLIP-seq
MIRT942790	hsa-miR-31	CLIP-seq
MIRT942791	hsa-miR-3150a-3p	CLIP-seq
MIRT942792	hsa-miR-3173-3p	CLIP-seq
MIRT942793	hsa-miR-3175	CLIP-seq
MIRT942794	hsa-miR-3184	CLIP-seq
MIRT942795	hsa-miR-3652	CLIP-seq
MIRT942796	hsa-miR-423-5p	CLIP-seq
MIRT942797	hsa-miR-4257	CLIP-seq
MIRT942798	hsa-miR-4430	CLIP-seq
MIRT942799	hsa-miR-4432	CLIP-seq
MIRT942800	hsa-miR-4492	CLIP-seq
MIRT942801	hsa-miR-4498	CLIP-seq
MIRT942802	hsa-miR-450b-5p	CLIP-seq
MIRT942803	hsa-miR-4688	CLIP-seq
MIRT942804	hsa-miR-4696	CLIP-seq
MIRT942805	hsa-miR-4714-5p	CLIP-seq
MIRT942806	hsa-miR-4728-5p	CLIP-seq
MIRT942807	hsa-miR-4779	CLIP-seq
MIRT942808	hsa-miR-486-3p	CLIP-seq
MIRT942809	hsa-miR-518a-5p	CLIP-seq
MIRT942810	hsa-miR-527	CLIP-seq
MIRT942811	hsa-miR-579	CLIP-seq
MIRT942812	hsa-miR-603	CLIP-seq
MIRT942813	hsa-miR-606	CLIP-seq
MIRT942814	hsa-miR-711	CLIP-seq
MIRT942815	hsa-miR-762	CLIP-seq
MIRT942816	hsa-miR-939	CLIP-seq
MIRT942817	hsa-miR-96	CLIP-seq
MIRT942811	hsa-miR-579	CLIP-seq
MIRT2387058	hsa-miR-4742-3p	CLIP-seq
MIRT942811	hsa-miR-579	CLIP-seq
MIRT2387059	hsa-miR-587	CLIP-seq
MIRT2387060	hsa-miR-630	CLIP-seq
MIRT2387061	hsa-miR-664	CLIP-seq
MIRT2518617	hsa-miR-1224-3p	CLIP-seq
MIRT2518618	hsa-miR-146a	CLIP-seq
MIRT2518619	hsa-miR-146b-5p	CLIP-seq
MIRT2518620	hsa-miR-3200-3p	CLIP-seq
MIRT2518621	hsa-miR-3680	CLIP-seq
MIRT942797	hsa-miR-4257	CLIP-seq
MIRT2518622	hsa-miR-4484	CLIP-seq
MIRT2518623	hsa-miR-4509	CLIP-seq
MIRT2518624	hsa-miR-4710	CLIP-seq
MIRT942805	hsa-miR-4714-5p	CLIP-seq
MIRT2518625	hsa-miR-4717-5p	CLIP-seq
MIRT2518626	hsa-miR-4753-5p	CLIP-seq
MIRT2518627	hsa-miR-4792	CLIP-seq
MIRT2518628	hsa-miR-483-3p	CLIP-seq
MIRT2518629	hsa-miR-548an	CLIP-seq
MIRT2518630	hsa-miR-589	CLIP-seq
MIRT942812	hsa-miR-603	CLIP-seq
MIRT942813	hsa-miR-606	CLIP-seq
MIRT942814	hsa-miR-711	CLIP-seq
MIRT2518617	hsa-miR-1224-3p	CLIP-seq
MIRT2518620	hsa-miR-3200-3p	CLIP-seq
MIRT942797	hsa-miR-4257	CLIP-seq
MIRT942805	hsa-miR-4714-5p	CLIP-seq
MIRT942812	hsa-miR-603	CLIP-seq
MIRT942813	hsa-miR-606	CLIP-seq
MIRT942814	hsa-miR-711	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
PTTG1	Activation	22081074

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	12134158
GO:0005096	Function	GTPase activator activity	TAS	9808620
GO:0005515	Function	Protein binding	IPI	12134158, 15247908, 15723800, 17474147, 17515907, 18768751, 19118547, 20936779, 28514442, 31980649, 32203420
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	17515907
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006911	Process	Phagocytosis, engulfment	TAS	9548255
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	TAS	8661160
GO:0007229	Process	Integrin-mediated signaling pathway	TAS	9808620
GO:0007264	Process	Small GTPase mediated signal transduction	IEA
GO:0007596	Process	Blood coagulation	TAS
GO:0010634	Process	Positive regulation of epithelial cell migration	IMP	19004829
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0017124	Function	SH3 domain binding	IEA
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IDA	12134158
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IMP	19004829

MIM	HGNC	e!Ensembl
601403	2987	ENSG00000150760

Protein

UniProt ID

Q14185

Protein name

Dedicator of cytokinesis protein 1 (180 kDa protein downstream of CRK) (DOCK180)

Protein function

Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:1900482

PDB

3L4C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00018	SH3_1	15 → 62	SH3 domain	Domain
PF16172	DOCK_N	72 → 416	DOCK N-terminus	Family
PF14429	DOCK-C2	421 → 618	C2 domain in Dock180 and Zizimin proteins	Domain
PF06920	DHR-2	1111 → 1610	Dock homology region 2	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in placenta, lung, kidney, pancreas and ovary. Expressed at intermediate level in thymus, testes and colon.

Sequence

MTRWVPTKREEKYGVAFYNYDARGADELSLQIGDTVHILETYEGWYRGYTLRKKSKKGIF
PASYIHLKEAIVEGKGQHETVIPGDLPLIQEVTTTLREWSTIWRQLYVQDNREMFRSVRH
MIYDLIEWRSQILSGTLPQDELKELKKKVTAKIDYGNRILDLDLVVRDEDGNILDPELTS
TISLFRAHEIASKQVEERLQEEKSQKQNIDINRQAKFAATPSLALFVNLKNVVCKIGEDA
EVLMSLYDPVESKFISENYLVRWSSSGLPKDIDRLHNLRAVFTDLGSKDLKREKISFVCQ
IVRVGRMELRDNNTRKLTSGLRRPFGVAVMDVTDIINGKVDDEDKQHFIPFQPVAGENDF
LQTVINKVIAAKEVNHKGQGLWVTLKLLPGDIHQIRKEFPHLVDRTTAVARKTGFPEIIM
PGDVRNDIYVTLVQGDFDKGSKTTAKNVEVTVSVYDEDGKRLEHVIFPGAGDEAISEYKS
VIYYQVKQPRWFETVKVAIPIEDVNRSHLRFTFRHRSSQDSKDKSEKIFALAFVKLMRYD
GTTLRDGEHDLIVYKAEAKKLEDAATYLSLPSTKAELEEKGHSATGKSMQSLGSCTISKD
SFQISTLVCSTKLTQNVDLLGLLKWRSNTSLLQQNLRQLMKVDGGEVVKFLQDTLDALFN
IMMENSESETFDTLVFDALVFIIGLIADRKFQHFNPVLETYIKKHFSATLAYTKLTKVLK
NYVDGAEKPGVNEQLYKAMKALESIFKFIVRSRILFNQLYENKGEADFVESLLQLFRSIN
DMMSSMSDQTVRVKGAALKYLPTIVNDVKLVFDPKELSKMFTEFILNVPMGLLTIQKLYC
LIEIVHSDLFTQHDCREILLPMMTDQLKYHLERQEDLEACCQLLSHILEVLYRKDVGPTQ
RHVQIIMEKLLRTVNRTVISMGRDSELIGNFVACMTAILRQMEDYHYAHLIKTFGKMRTD
VVDFLMETFIMFKNLIGKNVYPFDWVIMNMVQNKVFLRAINQYADMLNKKFLDQANFELQ
LWNNYFHLAVAFLTQESLQLENFSSAKRAKILNKYGDMRRQIGFEIRDMWYNLGQHKIKF
IPEMVGPILEMTLIPETELRKATIPIFFDMMQCEFHSTRSFQMFENEIITKLDHEVEGGR
GDEQYKVLFDKILLEHCRKHKYLAKTGETFVKLVVRLMERLLDYRTIMHDENKENRMSCT
VNVLNFYKEIEREEMYIRYLYKLCDLHKECDNYTEAAYTLLLHAKLLKWSEDVCVAHLTQ
RDGYQATTQGQLKEQLYQEIIHYFDKGKMWEEAIALGKELAEQYENEMFDYEQLSELLKK
QAQFYENIVKVIRPKPDYFAVGYYGQGFPTFLRGKVFIYRGKEYERREDFEARLLTQFPN
AEKMKTTSPPGDDIKNSPGQYIQCFTVKPKLDLPPKFHRPVSEQIVSFYRVNEVQRFEYS
RPIRKGEKNPDNEFANMWIERTIYTTAYKLPGILRWFEVKSVFMVEISPLENAIETMQLT
NDKINSMVQQHLDDPSLPINPLSMLLNGIVDPAVMGGFANYEKAFFTDRYLQEHPEAHEK
IEKLKDLIAWQIPFLAEGIRIHGDKVTEALRPFHERMEACFKQLKEKVEKEYGVRIMPSS
LDDRRGSRPRSMVRSFTMPSSSRPLSVASVSSLSSDSTPSRPGSDGFALEPLLPKKMHSR
SQDKLDKDDLEKEKKDKKKEKRNSKHQEIFEKEFKPTDISLQQSEAVILSETISPLRPQR
PKSQVMNVIGSERRFSVSPSSPSSQQTPPPVTPRAKLSFSMQSSLELNGMTGADVADVPP
PLPLKGSVADYGNLMENQDLLGSPTPPPPPPHQRHLPPPLPSKTPPPPPPKTTRKQASVD
SGIVQ

Sequence length

1865

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis Focal adhesion Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton Bacterial invasion of epithelial cells Shigellosis Yersinia infection		Regulation of actin dynamics for phagocytic cup formation DCC mediated attractive signaling VEGFA-VEGFR2 Pathway PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases FCGR3A-mediated phagocytosis Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Duchenne muscular dystrophy	Muscular Dystrophy, Duchenne	rs128625226, rs128625227, rs128625228, rs128625229, rs2147483647, rs104894787, rs128625230, rs128626234, rs201366610, rs267606770, rs128626235, rs128626231, rs146071084, rs128626232, rs104894788 View all (641 more)	30014611
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	18332221, 20829512, 18591431, 17765544, 17670792, 26527617, 27662902, 25022758, 18820033, 3372592

Show/Hide Unknown Diseases (11)

Disease term	Disease name	Evidence	References	Source
Unknown
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		28044437	ClinVar
Schizophrenia	Schizophrenia			GWAS
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis			GWAS
Moyamoya Disease	Moyamoya Disease			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome			GWAS
Astrocytoma	Astrocytoma			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Insomnia	Insomnia			GWAS
Alzheimer disease	Alzheimer disease			GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	34440432
Breast Neoplasms	Associate	23591873, 25332238, 29432733
Carcinogenesis	Associate	21698158, 22323579, 32626999, 36718103
Carcinoma Adenoid Cystic	Associate	21692051
Carcinoma Hepatocellular	Associate	34184075
Carcinoma Renal Cell	Associate	32626999
Chromosome 10q26 Deletion Syndrome	Associate	39976347
Cognition Disorders	Associate	39976347
Colorectal Neoplasms	Associate	33685455
Gastrointestinal Neoplasms	Associate	28044437
Glioblastoma	Associate	22323579, 28487380, 30108175
Heart Failure	Associate	34572079
Ichthyosis prematurity syndrome	Stimulate	29693144
Intellectual Disability	Associate	33335013
Leukemia Myeloid Acute	Associate	33658535, 38077322
Melanoma	Associate	29432733
Melanoma Cutaneous Malignant	Associate	27914105
Mental Disorders	Associate	33335013
Neoplasm Metastasis	Associate	33685455
Neoplasms	Inhibit	18459162
Neoplasms	Associate	29432733, 30108175
Obesity	Associate	25772781
Otitis Media	Associate	24499112
Ovarian Neoplasms	Associate	20237902, 24819662
Pulmonary Disease Chronic Obstructive	Associate	28044437
Squamous Cell Carcinoma of Head and Neck	Associate	29286141
Stomach Neoplasms	Associate	21698158, 24260584

DOCK1 (dedicator of cytokinesis 1)