ENSG00000164741


Homo sapiens

Features
Gene ID: ENSG00000164741
  
Biological name :DLC1
  
Synonyms : DLC1 / DLC1 Rho GTPase activating protein / Q96QB1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: p22
Gene start: 13083361
Gene end: 13604610
  
Corresponding Affymetrix probe sets: 210762_s_at (Human Genome U133 Plus 2.0 Array)   220511_s_at (Human Genome U133 Plus 2.0 Array)   220512_at (Human Genome U133 Plus 2.0 Array)   224822_at (Human Genome U133 Plus 2.0 Array)   242631_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429537
Ensembl peptide - ENSP00000428028
Ensembl peptide - ENSP00000473289
Ensembl peptide - ENSP00000488100
Ensembl peptide - ENSP00000276297
Ensembl peptide - ENSP00000321034
Ensembl peptide - ENSP00000351797
Ensembl peptide - ENSP00000422595
Ensembl peptide - ENSP00000425878
NCBI entrez gene - 10395     See in Manteia.
OMIM - 604258
RefSeq - XM_017012952
RefSeq - NM_001164271
RefSeq - NM_001316668
RefSeq - NM_001348081
RefSeq - NM_006094
RefSeq - NM_024767
RefSeq - NM_182643
RefSeq - XM_005273374
RefSeq - XM_017012951
RefSeq Peptide - NP_001157743
RefSeq Peptide - NP_001335010
RefSeq Peptide - NP_001335011
RefSeq Peptide - NP_001335012
RefSeq Peptide - NP_001335013
RefSeq Peptide - NP_006085
RefSeq Peptide - NP_079043
RefSeq Peptide - NP_872584
RefSeq Peptide - NP_001303597
swissprot - E5RI70
swissprot - Q96QB1
swissprot - R4GMP5
swissprot - A0A0J9YWS8
Ensembl - ENSG00000164741
  
Related genetic diseases (OMIM): 114500 - Colorectal cancer, somatic, 114500
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dlc1ENSDARG00000079317Danio rerio
 DLC1ENSGALG00000013715Gallus gallus
 Dlc1ENSMUSG00000031523Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Y3M8 / STARD13 / StAR related lipid transfer domain containing 13ENSG0000013312140
Q92502 / STARD8 / StAR related lipid transfer domain containing 8ENSG0000013005231
Q8N392 / ARHGAP18 / Rho GTPase activating protein 18ENSG000001463769
O43182 / ARHGAP6 / Rho GTPase activating protein 6ENSG000000476488
Q9P2N2 / ARHGAP28 / Rho GTPase activating protein 28ENSG000000887567
Q5TG30 / ARHGAP40 / Rho GTPase activating protein 40ENSG000001241437
Q6ZRI8 / ARHGAP36 / Rho GTPase activating protein 36ENSG000001472566
Q6P4F7 / ARHGAP11A / Rho GTPase activating protein 11AENSG000001988266
Q3KRB8 / ARHGAP11B / Rho GTPase activating protein 11BENSG000002850774
Q3KRB8 / AC091057.5 / Rho GTPase-activating protein 11B ENSG000002849064


Protein motifs (from Interpro)
Interpro ID Name
 IPR000198  Rho GTPase-activating protein domain
 IPR001660  Sterile alpha motif domain
 IPR002913  START domain
 IPR008936  Rho GTPase activation protein
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR023393  START-like domain superfamily
 IPR028854  Rho GTPase-activating protein 7


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure ISS
 biological_processGO:0003007 heart morphogenesis ISS
 biological_processGO:0006915 apoptotic process IDA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0021575 hindbrain morphogenesis ISS
 biological_processGO:0030036 actin cytoskeleton organization ISS
 biological_processGO:0030336 negative regulation of cell migration IMP
 biological_processGO:0030900 forebrain development ISS
 biological_processGO:0032956 regulation of actin cytoskeleton organization IMP
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0035024 negative regulation of Rho protein signal transduction IMP
 biological_processGO:0035307 positive regulation of protein dephosphorylation IDA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0048041 focal adhesion assembly ISS
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 biological_processGO:0051497 negative regulation of stress fiber assembly IDA
 biological_processGO:0051895 negative regulation of focal adhesion assembly IDA
 biological_processGO:1900119 positive regulation of execution phase of apoptosis IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005901 caveola IDA
 cellular_componentGO:0005925 focal adhesion IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030864 cortical actin cytoskeleton IDA
 cellular_componentGO:0032587 ruffle membrane IDA
 molecular_functionGO:0005096 GTPase activator activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0042169 SH2 domain binding IPI


Pathways (from Reactome)
Pathway description
Rho GTPase cycle


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0002891 Uterine leiomyosarcoma 
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 HP:0005584 Renal cell carcinoma "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators]
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 HP:0006716 Hereditary nonpolyposis colorectal carcinoma 
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 HP:0006740 Transitional cell carcinoma of the bladder 
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 HP:0006753 Increased gastric cancer 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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