Human Gene DLC1 (ENST00000276297.9_8) from GENCODE V47lift37
  Description: DLC1 Rho GTPase activating protein, transcript variant 1 (from RefSeq NM_182643.3)
Gencode Transcript: ENST00000276297.9_8
Gencode Gene: ENSG00000164741.15_16
Transcript (Including UTRs)
   Position: hg19 chr8:12,940,870-13,372,360 Size: 431,491 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr8:12,943,320-13,357,580 Size: 414,261 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:12,940,870-13,372,360)mRNA (may differ from genome)Protein (1528 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RHG07_HUMAN
DESCRIPTION: RecName: Full=Rho GTPase-activating protein 7; AltName: Full=Deleted in liver cancer 1 protein; Short=DLC-1; AltName: Full=HP protein; AltName: Full=Rho-type GTPase-activating protein 7; AltName: Full=START domain-containing protein 12; Short=StARD12; AltName: Full=StAR-related lipid transfer protein 12;
FUNCTION: Functions as a GTPase-activating protein specific for Rho and an activator of PLCD1 in vivo and induces morphological changes and detachment through cytoskeletal reorganization (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (Potential).
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.
SIMILARITY: Contains 1 Rho-GAP domain.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.
SIMILARITY: Contains 1 START domain.
SEQUENCE CAUTION: Sequence=AAB81637.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB21814.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DLC1
Diseases sorted by gene-association score: colorectal cancer* (234), colonic benign neoplasm* (97), hepatocellular carcinoma (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.01 RPKM in Adipose - Visceral (Omentum)
Total median expression: 319.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -97.50375-0.260 Picture PostScript Text
3' UTR -601.502450-0.246 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom
IPR001660 - SAM
IPR011510 - SAM_2
IPR023393 - START-like_dom
IPR002913 - START_lipid-bd

Pfam Domains:
PF00620 - RhoGAP domain
PF01852 - START domain
PF07647 - SAM domain (Sterile alpha motif)

SCOP Domains:
48350 - GTPase activation domain, GAP
48371 - ARM repeat
47769 - SAM/Pointed domain
55961 - Bet v1-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DKY - NMR MuPIT 2GYT - NMR MuPIT 2KAP - NMR MuPIT 2LOZ - NMR MuPIT 3KUQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96QB1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0042169 SH2 domain binding

Biological Process:
GO:0001843 neural tube closure
GO:0003007 heart morphogenesis
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007165 signal transduction
GO:0008285 negative regulation of cell proliferation
GO:0008360 regulation of cell shape
GO:0021575 hindbrain morphogenesis
GO:0030036 actin cytoskeleton organization
GO:0030336 negative regulation of cell migration
GO:0030900 forebrain development
GO:0032956 regulation of actin cytoskeleton organization
GO:0035023 regulation of Rho protein signal transduction
GO:0035024 negative regulation of Rho protein signal transduction
GO:0035307 positive regulation of protein dephosphorylation
GO:0043547 positive regulation of GTPase activity
GO:0048041 focal adhesion assembly
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051497 negative regulation of stress fiber assembly
GO:0051895 negative regulation of focal adhesion assembly
GO:1900119 positive regulation of execution phase of apoptosis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005901 caveola
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0030054 cell junction
GO:0030864 cortical actin cytoskeleton
GO:0032587 ruffle membrane


-  Descriptions from all associated GenBank mRNAs
  AB051510 - Homo sapiens KIAA1723 mRNA for KIAA1723 protein.
BC095415 - Homo sapiens cDNA clone IMAGE:30340100, containing frame-shift errors.
AK025544 - Homo sapiens cDNA: FLJ21891 fis, clone HEP03321, highly similar to AF026219 Homo sapiens HP protein (HP) mRNA.
BC054511 - Homo sapiens deleted in liver cancer 1, mRNA (cDNA clone MGC:60210 IMAGE:5240161), complete cds.
AF035119 - Homo sapiens deleted in liver cancer-1 (DLC-1) mRNA, complete cds.
GQ900913 - Homo sapiens clone HEL-T-25 epididymis secretory sperm binding protein mRNA, complete cds.
AK291682 - Homo sapiens cDNA FLJ78668 complete cds, highly similar to Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.
AF026219 - Homo sapiens HP protein (HP) mRNA, complete cds.
AK289734 - Homo sapiens cDNA FLJ76742 complete cds, highly similar to Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 2, mRNA.
EU832131 - Synthetic construct Homo sapiens clone HAIB:100067160; DKFZo008D0925 deleted in liver cancer 1 protein (DLC1) gene, encodes complete protein.
EU832224 - Synthetic construct Homo sapiens clone HAIB:100067253; DKFZo004D0926 deleted in liver cancer 1 protein (DLC1) gene, encodes complete protein.
AB384275 - Synthetic construct DNA, clone: pF1KSDA1723, Homo sapiens DLC1 gene for Rho GTPase-activating protein 7, complete cds, without stop codon, in Flexi system.
DQ092384 - Homo sapiens isolate 3 deleted in liver cancer 1 variant 2 (DLC1) mRNA, 5' UTR and partial cds.
DQ092383 - Homo sapiens isolate 2 deleted in liver cancer 1 variant 2 (DLC1) mRNA, 5' UTR and partial cds.
DQ092382 - Homo sapiens isolate 1 deleted in liver cancer 1 variant 2 (DLC1) mRNA, 5' UTR and partial cds.
AK024773 - Homo sapiens cDNA: FLJ21120 fis, clone CAS05691.
AK225098 - Homo sapiens mRNA for deleted in liver cancer 1 isoform 3 variant, clone: CAS05691.
BC049842 - Homo sapiens deleted in liver cancer 1, mRNA (cDNA clone IMAGE:5202674), complete cds.
KJ898202 - Synthetic construct Homo sapiens clone ccsbBroadEn_07596 DLC1 gene, encodes complete protein.
AK023128 - Homo sapiens cDNA FLJ13066 fis, clone NT2RP3001698.
AL117604 - Homo sapiens mRNA; cDNA DKFZp564M0763 (from clone DKFZp564M0763).
AK025733 - Homo sapiens cDNA: FLJ22080 fis, clone HEP13427, highly similar to AF026219 Homo sapiens HP protein (HP) mRNA.
AK299049 - Homo sapiens cDNA FLJ59738 complete cds, highly similar to Rho-GTPase-activating protein 7.
JD284166 - Sequence 265190 from Patent EP1572962.
JD450649 - Sequence 431673 from Patent EP1572962.
JD079941 - Sequence 60965 from Patent EP1572962.
JD095453 - Sequence 76477 from Patent EP1572962.
JD087875 - Sequence 68899 from Patent EP1572962.
JD501227 - Sequence 482251 from Patent EP1572962.
JD556920 - Sequence 537944 from Patent EP1572962.
JD173520 - Sequence 154544 from Patent EP1572962.
JD166897 - Sequence 147921 from Patent EP1572962.
JD507441 - Sequence 488465 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96QB1 (Reactome details) participates in the following event(s):

R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-194840 Rho GTPase cycle
R-HSA-194315 Signaling by Rho GTPases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ARHGAP7, B4DR10, B8PTI0, E9PDZ8, E9PF76, E9PGY9, ENST00000276297.1, ENST00000276297.2, ENST00000276297.3, ENST00000276297.4, ENST00000276297.5, ENST00000276297.6, ENST00000276297.7, ENST00000276297.8, KIAA1723, NM_182643, O14868, O43199, Q7Z5R8, Q86UC6, Q96QB1, Q9C0E0, Q9H7A2, RHG07_HUMAN, STARD12, uc317jkb.1, uc317jkb.2
UCSC ID: ENST00000276297.9_8
RefSeq Accession: NM_182643.3
Protein: Q96QB1 (aka RHG07_HUMAN or RHG7_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.