Gene Gene information from NCBI Gene database.
Entrez ID 10395
Gene name DLC1 Rho GTPase activating protein
Gene symbol DLC1
Synonyms (NCBI Gene)
ARHGAP7HPSTARD12p122-RhoGAP
Chromosome 8
Chromosome location 8p22
Summary 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.
3
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.
665
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
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
GO:0005096 Function GTPase activator activity IDA 17932950
GO:0005096 Function GTPase activator activity IMP 17888903
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604258 2897 ENSG00000164741
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
141
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Carcinoma of colon Pathogenic rs121908500 RCV000006053
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs182143157, rs76713924, rs190871521 RCV005915396
RCV005915783
RCV005925147
Colorectal cancer Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs200102232, rs139415835, rs377127652, rs138749997, rs143324598, rs377159911, rs759392511, rs774305707, rs199759496, rs748100448, rs777832666, rs371098007, rs139778805, rs145626397, rs779873981
View all (48 more)
RCV002506827
RCV002479776
RCV005038423
RCV002499994
RCV002486958
RCV005045252
RCV005045296
RCV005050744
RCV005045328
RCV005045342
RCV005045322
RCV005045350
RCV005050758
RCV005044958
RCV005044964
RCV005050637
RCV005045038
RCV005045056
RCV005045066
RCV005045115
RCV005045106
RCV005045109
RCV005045110
RCV005045119
RCV005045143
RCV005034537
RCV005045151
RCV005045382
RCV005047325
RCV005047341
RCV005047363
RCV005047391
RCV005047392
RCV005036633
RCV005047400
RCV005047454
RCV005047489
RCV005047496
RCV005047501
RCV005051298
RCV005047658
RCV005036905
RCV005047725
RCV005051360
RCV005047782
RCV005047781
RCV005047788
RCV005047789
RCV005040596
RCV005040597
RCV005040632
RCV005051423
RCV005051424
RCV005040633
RCV005033946
RCV002481573
RCV002475986
RCV002479114
RCV002505474
RCV002505317
RCV002502751
RCV002502773
RCV002495508
DLC1-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs200102232, rs73551600, rs143324598, rs140340878, rs377159911, rs371098007, rs544799456, rs774305707, rs748100448, rs199980849, rs139251311, rs376046492, rs746295250, rs150090193, rs142253103
View all (36 more)
RCV003941134
RCV003968736
RCV003958882
RCV003951302
RCV004753622
RCV003943777
RCV003963642
RCV004753628
RCV003410122
RCV003961144
RCV003926460
RCV004753596
RCV003916627
RCV003418657
RCV003961216
RCV003916631
RCV003943637
RCV003943639
RCV003961312
RCV003418663
RCV003963494
RCV003916683
RCV003943681
RCV003973609
RCV003984314
RCV003930023
RCV003396979
RCV003919046
RCV003393077
RCV003391659
RCV003414329
RCV003410791
RCV003420984
RCV003946716
RCV003893465
RCV003929650
RCV003981666
RCV003902171
RCV003901768
RCV003892249
RCV003899200
RCV003942050
RCV003944174
RCV003954933
RCV003949584
RCV003934768
RCV003947296
RCV003963822
RCV003960758
RCV003950633
RCV003958255
RCV003970373
Familial cancer of breast Uncertain significance rs149295187 RCV005926565
Associations from Text MiningDisease associations identified through Pubtator
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