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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
49
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Carcinoma of colon Pathogenic rs121908500 RCV000006053
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 29608374
★☆☆☆☆
Found in Text Mining only
Acatalasia Acatalasia BEFREE 14556852
★☆☆☆☆
Found in Text Mining only
Activated Protein C Resistance Activated Protein C Resistance BEFREE 12571435
★☆☆☆☆
Found in Text Mining only
Acute Inflammatory Demyelinating Polyneuropathy Inflammatory Demyelinating Polyneuropathy BEFREE 29904402
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 28885000
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 22139079
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19101688
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer CGI_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27174913, 29363881
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 19801537
★☆☆☆☆
Found in Text Mining only