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Aliases for DLC1 Gene

Aliases for DLC1 Gene

  • DLC1 Rho GTPase Activating Protein 2 3 5
  • StAR-Related Lipid Transfer (START) Domain Containing 12 2 3
  • Rho-Type GTPase-Activating Protein 7 3 4
  • START Domain-Containing Protein 12 3 4
  • Deleted In Liver Cancer 1 Protein 3 4
  • ARHGAP7 3 4
  • STARD12 3 4
  • StAR-Related Lipid Transfer Protein 12 4
  • Deleted In Liver Cancer 1 Variant 2 3
  • Deleted In Liver Cancer Variant 4 3
  • Rho-GTPase-Activating Protein 7 3
  • Rho GTPase-Activating Protein 7 3
  • Deleted In Liver Cancer 1 2
  • P122-RhoGAP 3
  • HP Protein 4
  • KIAA1723 4
  • DLC-1 4
  • HP 3

External Ids for DLC1 Gene

Previous GeneCards Identifiers for DLC1 Gene

  • GC08M012717
  • GC08M012901
  • GC08M012951
  • GC08M012985
  • GC08M011483
  • GC08M012940

Summaries for DLC1 Gene

Entrez Gene Summary for DLC1 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 involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]

GeneCards Summary for DLC1 Gene

DLC1 (DLC1 Rho GTPase Activating Protein) is a Protein Coding gene. Diseases associated with DLC1 include Colorectal Cancer and Hepatocellular Carcinoma. Among its related pathways are G-protein signaling_Regulation of CDC42 activity and Regulation of RhoA activity. GO annotations related to this gene include GTPase activator activity and SH2 domain binding. An important paralog of this gene is STARD13.

UniProtKB/Swiss-Prot for DLC1 Gene

  • 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 biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality.

Gene Wiki entry for DLC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLC1 Gene

Genomics for DLC1 Gene

Regulatory Elements for DLC1 Gene

Enhancers for DLC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G013361 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.7 +236.7 236728 12.9 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF548 LOC101930149 DLC1 MTND4P7 GC08M013456
GH08G013245 1.5 Ensembl ENCODE dbSUPER 11.8 +357.2 357231 2.8 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 YY1 TCF12 GATA2 REST PPARG FAM66A DLC1 RPS3AP34 FAM86B2 GC08M013255 GC08M013094
GH08G013356 1.5 Ensembl ENCODE dbSUPER 11.4 +247.3 247256 2.3 FOXA2 ATF1 MLX ARID4B YY1 GATA2 FOS PPARG MIER3 RCOR2 DLC1 LOC101930149 MTND4P7 GC08M013456
GH08G013351 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.3 +251.0 250974 4.5 FOXA2 MLX ARID4B DMAP1 YY1 TCF12 GATA2 FOS PAF1 SP5 DLC1 LOC101930149 MTND4P7 GC08M013456
GH08G013264 2 FANTOM5 Ensembl ENCODE dbSUPER 7.8 +333.7 333701 13.4 FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 FOS LOC101930149 ENSG00000255122 RPS3AP34 DLC1 GC08M013255
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLC1 Gene

Chromosome:
8
Start:
13,083,361 bp from pter
End:
13,604,610 bp from pter
Size:
521,250 bases
Orientation:
Minus strand

Genomic View for DLC1 Gene

Genes around DLC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLC1 Gene

Proteins for DLC1 Gene

  • Protein details for DLC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QB1-RHG07_HUMAN
    Recommended name:
    Rho GTPase-activating protein 7
    Protein Accession:
    Q96QB1
    Secondary Accessions:
    • B4DR10
    • B8PTI0
    • E9PDZ8
    • E9PF76
    • E9PGY9
    • O14868
    • O43199
    • Q7Z5R8
    • Q86UC6
    • Q9C0E0
    • Q9H7A2

    Protein attributes for DLC1 Gene

    Size:
    1528 amino acids
    Molecular mass:
    170591 Da
    Quaternary structure:
    • Interacts with EF1A1, facilitates EF1A1 distribution to the membrane periphery and ruffles upon growth factor stimulation and suppresses cell migration.
    SequenceCaution:
    • Sequence=AAB81637.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB21814.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DLC1 Gene

    Alternative splice isoforms for DLC1 Gene

neXtProt entry for DLC1 Gene

Post-translational modifications for DLC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DLC1 Gene

Domains & Families for DLC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96QB1

UniProtKB/Swiss-Prot:

RHG07_HUMAN :
  • The SAM domain mediates interaction with EF1A1, and functions as an autoinhibitory regulator of RhoGAP Activity.
Domain:
  • The SAM domain mediates interaction with EF1A1, and functions as an autoinhibitory regulator of RhoGAP Activity.
  • The polybasic cluster is required for activation and mediates binding to phosphatidylinositol-4,5-bisphosphate (PI(4,5)P(2)) containing membranes.
genes like me logo Genes that share domains with DLC1: view

Function for DLC1 Gene

Molecular function for DLC1 Gene

GENATLAS Biochemistry:
gene deleted in liver cancer 1,ubiquitously expressed in normal tissues,homolog to rat RhoGAP (see TSG8D),not a target of 8pLOH in colorectal or ovarian tumors
UniProtKB/Swiss-Prot 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 biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality.

Gene Ontology (GO) - Molecular Function for DLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 16951145
GO:0008289 lipid binding IEA --
GO:0042169 SH2 domain binding IPI 17190795
genes like me logo Genes that share ontologies with DLC1: view
genes like me logo Genes that share phenotypes with DLC1: view

Human Phenotype Ontology for DLC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLC1 Gene

MGI Knock Outs for DLC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DLC1

CRISPR Products

miRNA for DLC1 Gene

miRTarBase miRNAs that target DLC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DLC1 Gene

Localization for DLC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLC1 Gene

Cytoplasm. Cell junction, focal adhesion. Membrane; Peripheral membrane protein. Note=Colocalizes with EF1A1 at actin-rich regions in the cell periphery.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLC1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for DLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17888903
GO:0005737 cytoplasm IDA,IEA 16951145
GO:0005829 cytosol TAS --
GO:0005901 caveola IDA 16951145
GO:0005925 focal adhesion IEA,IDA 16951145
genes like me logo Genes that share ontologies with DLC1: view

Pathways & Interactions for DLC1 Gene

genes like me logo Genes that share pathways with DLC1: view

Pathways by source for DLC1 Gene

1 GeneTex pathway for DLC1 Gene
1 BioSystems pathway for DLC1 Gene
1 GeneGo (Thomson Reuters) pathway for DLC1 Gene

SIGNOR curated interactions for DLC1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure ISS --
GO:0003007 heart morphogenesis ISS --
GO:0006915 apoptotic process IDA 17292327
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 17888903
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with DLC1: view

Drugs & Compounds for DLC1 Gene

No Compound Related Data Available

Transcripts for DLC1 Gene

Unigene Clusters for DLC1 Gene

Deleted in liver cancer 1:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: -
SP2:
SP3:
SP4: -
SP5: -
SP6: - - -
SP7:

ExUns: 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for DLC1 Gene

GeneLoc Exon Structure for
DLC1
ECgene alternative splicing isoforms for
DLC1

Expression for DLC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DLC1 Gene

Protein differential expression in normal tissues from HIPED for DLC1 Gene

This gene is overexpressed in Heart (64.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DLC1 Gene



Protein tissue co-expression partners for DLC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DLC1 Gene:

DLC1

SOURCE GeneReport for Unigene cluster for DLC1 Gene:

Hs.134296

mRNA Expression by UniProt/SwissProt for DLC1 Gene:

Q96QB1-RHG07_HUMAN
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.

Evidence on tissue expression from TISSUES for DLC1 Gene

  • Lung(4.7)
  • Nervous system(4.7)
  • Liver(4.4)
  • Muscle(4.2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DLC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • reproductive
  • urinary
Organs:
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
genes like me logo Genes that share expression patterns with DLC1: view

Primer Products

No data available for mRNA differential expression in normal tissues for DLC1 Gene

Orthologs for DLC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLC1 34 35
  • 98.88 (n)
dog
(Canis familiaris)
Mammalia DLC1 34 35
  • 89.87 (n)
cow
(Bos Taurus)
Mammalia DLC1 34 35
  • 89.13 (n)
rat
(Rattus norvegicus)
Mammalia Dlc1 34
  • 86.19 (n)
mouse
(Mus musculus)
Mammalia Dlc1 34 16 35
  • 83.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DLC1 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DLC1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLC1 34 35
  • 74.75 (n)
lizard
(Anolis carolinensis)
Reptilia DLC1 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlc1 34
  • 70.72 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC567965 34
  • 62.82 (n)
DLC1 35
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP88C 36
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea gei-1 36
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4228 34
Species where no ortholog for DLC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DLC1 Gene

ENSEMBL:
Gene Tree for DLC1 (if available)
TreeFam:
Gene Tree for DLC1 (if available)

Paralogs for DLC1 Gene

(3) SIMAP similar genes for DLC1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DLC1: view

Variants for DLC1 Gene

Sequence variations from dbSNP and Humsavar for DLC1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs121908500 Pathogenic 13,099,462(-) ACCGA(A/G)CCACA reference, missense
rs149472569 Uncertain significance 13,100,124(+) TCTGC(A/G)TGGAG reference, missense
rs759626631 Uncertain significance 13,085,816(+) TCACC(A/T)AGATT reference, missense
rs1000001983 -- 13,466,576(+) CGTCT(A/G)CCTAA intron-variant
rs1000005118 -- 13,413,805(+) CCTCC(C/T)AGCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DLC1 Gene

Variant ID Type Subtype PubMed ID
dgv11989n54 CNV loss 21841781
dgv11990n54 CNV loss 21841781
dgv1378e214 CNV loss 21293372
dgv2041e212 CNV loss 25503493
dgv2042e212 CNV loss 25503493
dgv2043e212 CNV loss 25503493
dgv7085n100 CNV loss 25217958
esv1980179 CNV deletion 18987734
esv2651648 CNV deletion 19546169
esv2667120 CNV deletion 23128226
esv2669734 CNV deletion 23128226
esv2676326 CNV deletion 23128226
esv2736632 CNV deletion 23290073
esv2736633 CNV deletion 23290073
esv2736634 CNV deletion 23290073
esv275220 CNV gain+loss 21479260
esv2752209 CNV loss 17911159
esv3307602 CNV mobile element insertion 20981092
esv3310474 CNV novel sequence insertion 20981092
esv3375116 CNV duplication 20981092
esv3378274 CNV insertion 20981092
esv3389149 CNV insertion 20981092
esv3543080 CNV deletion 23714750
esv3572536 CNV loss 25503493
esv3572537 CNV loss 25503493
esv3616298 CNV loss 21293372
esv3616299 CNV loss 21293372
esv3616300 CNV gain 21293372
esv3616301 CNV gain 21293372
esv3616302 CNV gain 21293372
esv3616305 CNV gain 21293372
esv3616307 CNV loss 21293372
esv3616308 CNV gain 21293372
esv3616309 CNV loss 21293372
esv3616310 CNV gain 21293372
esv3616311 CNV gain 21293372
esv3616312 CNV loss 21293372
esv3616313 CNV gain 21293372
esv3891343 CNV gain 25118596
nsv1022609 CNV loss 25217958
nsv1022834 CNV gain 25217958
nsv1032823 CNV gain 25217958
nsv1034465 CNV loss 25217958
nsv1076062 CNV deletion 25765185
nsv1117483 CNV tandem duplication 24896259
nsv1120557 CNV tandem duplication 24896259
nsv1124323 CNV deletion 24896259
nsv1129801 CNV tandem duplication 24896259
nsv1140893 CNV deletion 24896259
nsv1149502 CNV deletion 26484159
nsv397643 CNV deletion 16902084
nsv397741 CNV deletion 16902084
nsv465470 CNV loss 19166990
nsv465471 CNV loss 19166990
nsv465473 CNV loss 19166990
nsv470184 CNV loss 18288195
nsv476556 CNV novel sequence insertion 20440878
nsv516452 CNV loss 19592680
nsv516894 CNV gain 19592680
nsv517019 CNV gain+loss 19592680
nsv521822 CNV loss 19592680
nsv6084 CNV insertion 18451855
nsv6085 CNV insertion 18451855
nsv610411 CNV loss 21841781
nsv610412 CNV gain 21841781
nsv610413 CNV loss 21841781
nsv610414 CNV loss 21841781
nsv610415 CNV loss 21841781
nsv610420 CNV gain 21841781
nsv610421 CNV loss 21841781
nsv8290 CNV gain 18304495
nsv958466 CNV deletion 24416366

Variation tolerance for DLC1 Gene

Residual Variation Intolerance Score: 28.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.47; 71.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLC1 Gene

Human Gene Mutation Database (HGMD)
DLC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLC1 Gene

Disorders for DLC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DLC1 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer
  • colorectal cancer, somatic
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
- elite association - COSMIC cancer census association via MalaCards
Search DLC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DLC1

Genetic Association Database (GAD)
DLC1
Human Genome Epidemiology (HuGE) Navigator
DLC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLC1
genes like me logo Genes that share disorders with DLC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLC1 Gene

Publications for DLC1 Gene

  1. Cloning, characterization, and chromosomal localization of a gene frequently deleted in human liver cancer (DLC-1) homologous to rat RhoGAP. (PMID: 9605766) Yuan B.Z. … Popescu N.C. (Cancer Res. 1998) 2 3 4 22 64
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  3. A novel isoform of the 8p22 tumor suppressor gene DLC1 suppresses tumor growth and is frequently silenced in multiple common tumors. (PMID: 21217778) Low J.S. … Hsieh W.S. (Oncogene 2011) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for DLC1 Gene

  • Addgene plasmids for DLC1

Sources for DLC1 Gene

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