Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10395
Gene name Gene Name - the full gene name approved by the HGNC.
DLC1 Rho GTPase activating protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DLC1
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGAP7, HP, STARD12, p122-RhoGAP
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes inv
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908500 T>C Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs1303000329 G>A,T Risk-factor Missense variant, intron variant, 5 prime UTR variant, genic downstream transcript variant, coding sequence variant
rs1563593163 G>A Risk-factor Stop gained, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005042 hsa-let-7b-5p Microarray 17699775
MIRT021186 hsa-miR-186-5p Sequencing 20371350
MIRT031720 hsa-miR-16-5p Sequencing 20371350
MIRT032148 hsa-let-7d-5p Sequencing 20371350
MIRT050541 hsa-miR-20a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001843 Process Neural tube closure ISS
GO:0003007 Process Heart morphogenesis ISS
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005096 Function GTPase activator activity IDA 17932950
GO:0005096 Function GTPase activator activity IDA 17932950
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604258 2897 ENSG00000164741
Protein
UniProt ID Q96QB1
Protein name Rho GTPase-activating protein 7 (Deleted in liver cancer 1 protein) (DLC-1) (HP protein) (Rho-type GTPase-activating protein 7) (START domain-containing protein 12) (StARD12) (StAR-related lipid transfer protein 12)
Protein function Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in
PDB 2DKY , 2GYT , 2KAP , 2LOZ , 3KUQ , 5FZT , 7TPB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07647 SAM_2 452 513 SAM domain (Sterile alpha motif) Domain
PF00620 RhoGAP 1092 1242 RhoGAP domain Domain
PF01852 START 1323 1522 START domain Domain
Tissue specificity TISSUE SPECIFICITY: Highest level of expression in the spleen, with rather lower levels in prostate, testis, ovary, small intestine and colon, but none in the thymus.
Sequence
MSVAIRKRSWEEHVTHWMGQPFNSDDRNTACHHGLVADSLQASMEKDATLNVDRKEKCVS
LPDCCHGSELRDFPGRPMGHLSKDVDENDSHEGEDQFLSLEASTETLVHVSDEDNNADLC
LTDDKQVLNTQGQKTSGQHMIQGAGSLEKALPIIQSNQVSSNSWGIAGETELALVKESGE
RKVTDSISKSLELCNEISLSEIKDAPKVNAVDTLNVKDIAPEKQLLNSAVIAQQRRKPDP
PKDENERSTCNVVQNEFLDTPCTNRGLPLLKTDFGSCLLQPPSCPNGMSAENGLEKSGFS
QHQNKSPPKVKAEDGMQCLQLKETLATQEPTDNQVRLRKRKEIREDRDRARLDSMVLLIM
KLDQLDQDIENALSTSSSPSGTPTNLRRHVPDLESGSESGADTISVNQTRVNLSSDTEST
DLPSSTPVANSGTKPKTTAIQGISEKEKAEIEAKEACDWLRATGFPQYAQLYEDFLFPID
ISLVKREHDFLDRDAIEALCRRLNTLNKCAVMK
LEISPHRKRSDDSDEDEPCAISGKWTF
QRDSKRWSRLEEFDVFSPKQDLVPGSPDDSHPKDGPSPGGTLMDLSERQEVSSVRSLSST
GSLPSHAPPSEDAATPRTNSVISVCSSSNLAGNDDSFGSLPSPKELSSFSFSMKGHEKTA
KSKTRSLLKRMESLKLKSSHHSKHKAPSKLGLIISGPILQEGMDEEKLKQLNCVEISALN
GNRINVPMVRKRSVSNSTQTSSSSSQSETSSAVSTPSPVTRTRSLSACNKRVGMYLEGFD
PFNQSTFNNVVEQNFKNRESYPEDTVFYIPEDHKPGTFPKALTNGSFSPSGNNGSVNWRT
GSFHGPGHISLRRENSSDSPKELKRRNSSSSMSSRLSIYDNVPGSILYSSSGDLADLENE
DIFPELDDILYHVKGMQRIVNQWSEKFSDEGDSDSALDSVSPCPSSPKQIHLDVDNDRTT
PSDLDSTGNSLNEPEEPSEIPERRDSGVGASLTRSNRHRLRWHSFQSSHRPSLNSVSLQI
NCQSVAQMNLLQKYSLLKLTALLEKYTPSNKHGFSWAVPKFMKRIKVPDYKDRSVFGVPL
TVNVQRTGQPLPQSIQQAMRYLRNHCLDQVGLFRKSGVKSRIQALRQMNEGAIDCVNYEG
QSAYDVADMLKQYFRDLPEPLMTNKLSETFLQIYQYVPKDQRLQAIKAAIMLLPDENREV
LQTLLYFLSDVTAAVKENQMTPTNLAVCLAPSLFHLNTLKRE
NSSPRVMQRKQSLGKPDQ
KDLNENLAATQGLAHMIAECKKLFQVPEEMSRCRNSYTEQELKPLTLEALGHLGNDDSAD
YQHFLQDCVDGLFKEVKEKFKGWVSYSTSEQAELSYKKVSEGPPLRLWRSVIEVPAVPEE
ILKRLLKEQHLWDVDLLDSKVIEILDSQTEIYQYVQNSMAPHPARDYVVLRTWRTNLPKG
ACALLLTSVDHDRAPVVGVRVNVLLSRYLIEPCGPGKSKLTYMCRVDLRGHMPEWYTKSF
GHLCAAEVVKIRDSFSNQNTET
KDTKSR
Sequence length 1528
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Colorectal neoplasms Colorectal Neoplasms rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
26401016
Hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal carcinoma rs267607957, rs886044911, rs1064793185, rs144567652
Unknown
Disease term Disease name Evidence References Source
Colorectal Cancer colorectal cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GenCC, CBGDA
Congenital heart defects congenital heart defects, multiple types GenCC
Bipolar Disorder Bipolar Disorder GWAS
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Associations from Text Mining
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 17965626
Adenocarcinoma Associate 23509688
Adenocarcinoma of Lung Associate 23639940, 25242053, 32741804, 33612479, 33754907, 35029906, 35238419, 37790851
Adenocarcinoma of Lung Inhibit 27174913, 33678109
Adenoma Inhibit 23509688
Ascites Associate 23988121
Atherosclerosis Stimulate 30231995
Breast Neoplasms Associate 12759748, 17418982, 22799310, 25425654, 30278072, 31110002, 35322810
Breast Neoplasms Inhibit 27174913
Burkitt Lymphoma Associate 17965626