Dlc1 deleted in liver cancer 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dlc1provided by MGI
Official Full Name: deleted in liver cancer 1provided by MGI
Primary source: MGI:MGI:1354949
See related: Ensembl:ENSMUSG00000031523 AllianceGenome:MGI:1354949
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HP; dlc-1; Arhgap7; STARD12; A730069N07Rik
Summary: Predicted to enable several functions, including GTPase activator activity; SH2 domain binding activity; and phospholipase binding activity. Acts upstream of or within several processes, including actin cytoskeleton organization; focal adhesion assembly; and nervous system development. Predicted to be located in several cellular components, including actin cytoskeleton; caveola; and ruffle membrane. Predicted to be active in focal adhesion and membrane raft. Is expressed in several structures, including central nervous system; heart; hemolymphoid system gland; neural ectoderm; and placenta. Human ortholog(s) of this gene implicated in colorectal cancer. Orthologous to human DLC1 (DLC1 Rho GTPase activating protein). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in lung adult (RPKM 9.5), subcutaneous fat pad adult (RPKM 8.0) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A4; 8 23.05 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (37034893..37420343, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (36567739..36953184, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

talin unfolding determines DLC1 downstream signalling and, consequently, cell mechanics.
Title: Mechanotransduction in talin through the interaction of the R8 domain with DLC1.
Low DLC1 expression is associated with Angiosarcoma.
Title: Effects of DLC1 Deficiency on Endothelial Cell Contact Growth Inhibition and Angiosarcoma Progression.
DLC-1 has a positive regulatory role in endothelial cell angiogenesis.
Title: Down-regulation of DLC1 in endothelial cells compromises the angiogenesis process.
studies demonstrate that TNS1 binds to DLC1 and fine-tunes its RhoGAP activity toward RhoA and that the TNS1-DLC1-RhoA signaling axis is critical in regulating cellular functions that lead to angiogenesis
Title: Tensin1 positively regulates RhoA activity through its interaction with DLC1.
Loss of expression of only Dlc1 isoform 2 may be sufficient for the development of thymic tumors and metastasis.
Title: The role of Dlc1 isoform 2 in K-Ras2(G12D) induced thymic cancer.
Several genes and biochemical activities collaborate with the inactivation of DLC1 to give rise to cell transformation in MEFs, and the identified genes are relevant to human tumors with low DLC1 expression.
Title: Inactivation of the Dlc1 gene cooperates with downregulation of p15INK4b and p16Ink4a, leading to neoplastic transformation and poor prognosis in human cancer.
The Dlc1 deficient cells showed altered cytoskeleton structure, increased RhoA activity and cellular migration.
Title: Identification and characterization of Dlc1 isoforms in the mouse and study of the biological function of a single gene trapped isoform.
Our data validate DLC1 as a potent tumor suppressor gene and suggest that its loss creates a dependence on the RhoA pathway that may be targeted therapeutically.
Title: DLC1 is a chromosome 8p tumor suppressor whose loss promotes hepatocellular carcinoma.
DLC-1-/- embryos had defects in the neural tube, brain, heart, and placenta
Title: DLC-1, a Rho GTPase-activating protein with tumor suppressor function, is essential for embryonic development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8Mit97 (e-PCR), detects polymorphism
- UniSTS:131643

Arhgap7 (e-PCR), detects polymorphism
- UniSTS:239185

D8Mit226 (e-PCR), detects polymorphism
- UniSTS:131436

AW742331 (e-PCR)
- UniSTS:208267

BE199599 (e-PCR)
- UniSTS:208268

AW743025 (e-PCR)
- UniSTS:208269

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables GTPase activator activity	ISO Inferred from Sequence Orthology more info
enables SH2 domain binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phospholipase binding	ISO Inferred from Sequence Orthology more info
enables vinculin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hindbrain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Rho protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of focal adhesion assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of execution phase of apoptosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell shape	ISO Inferred from Sequence Orthology more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in actin filament	ISO Inferred from Sequence Orthology more info
located_in caveola	ISO Inferred from Sequence Orthology more info
located_in cortical actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in membrane raft	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in ruffle membrane	ISO Inferred from Sequence Orthology more info
located_in stress fiber	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: rho GTPase-activating protein 7

Names: START domain-containing protein 12; p122-RhoGAP; rho-type GTPase-activating protein 7; stAR-related lipid transfer protein 12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001194940.2 → NP_001181869.1 rho GTPase-activating protein 7 isoform 1

See identical proteins and their annotated locations for NP_001181869.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC138593, AC158349, AC168051, BE199599, HM008381

Consensus CDS

CCDS57617.1

UniProtKB/TrEMBL

D5M8I5, E9PXD2

Related

ENSMUSP00000132812.3, ENSMUST00000163663.3

Conserved Domains (3) summary

cd09591
Location:468 → 527

SAM_DLC1; SAM domain of DLC1 subfamily

cd04375
Location:1087 → 1305

RhoGAP_DLC1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of DLC1-like proteins. DLC1 shows in vitro GAP activity towards RhoA and CDC42. Beside its C-terminal GAP domain, DLC1 also contains a SAM (sterile alpha motif) and a START ...

cl14643
Location:1330 → 1533

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
NM_001194941.1 → NP_001181870.1 rho GTPase-activating protein 7 isoform 3

See identical proteins and their annotated locations for NP_001181870.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC103378, AK147539, BE199599

Consensus CDS

CCDS57616.1

UniProtKB/Swiss-Prot

Q3TRX3, Q3UH75, Q8R541, Q9R0Z9

UniProtKB/TrEMBL

A0A0R4J171

Related

ENSMUSP00000096425.4, ENSMUST00000098826.10

Conserved Domains (4) summary

cd09591
Location:51 → 110

SAM_DLC1; SAM domain of DLC1 subfamily

smart00454
Location:51 → 110

SAM; Sterile alpha motif

cd04375
Location:670 → 888

RhoGAP_DLC1; RhoGAP_DLC1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of DLC1-like proteins. DLC1 shows in vitro GAP activity towards RhoA and CDC42. Beside its C-terminal GAP domain, DLC1 also contains a SAM (sterile alpha motif) and a ...

cl14643
Location:913 → 1116

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
NM_015802.3 → NP_056617.2 rho GTPase-activating protein 7 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC138593, AK147539, AK162413, BE199599

Consensus CDS

CCDS40322.1

UniProtKB/Swiss-Prot

Q3TRX3, Q3UH75, Q8R541, Q9R0Z9

UniProtKB/TrEMBL

E9QKB1

Related

ENSMUSP00000033923.8, ENSMUST00000033923.14

Conserved Domains (4) summary

cd09591
Location:17 → 76

SAM_DLC1; SAM domain of DLC1 subfamily

smart00454
Location:17 → 76

SAM; Sterile alpha motif

cd04375
Location:636 → 854

RhoGAP_DLC1; RhoGAP_DLC1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of DLC1-like proteins. DLC1 shows in vitro GAP activity towards RhoA and CDC42. Beside its C-terminal GAP domain, DLC1 also contains a SAM (sterile alpha motif) and a ...

cl14643
Location:879 → 1082

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

37034893..37420343 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006509166.5 → XP_006509229.1 rho GTPase-activating protein 7 isoform X1

See identical proteins and their annotated locations for XP_006509229.1

UniProtKB/TrEMBL

D5M8I5, E9PXD2

Conserved Domains (3) summary

cd09591
Location:468 → 527

SAM_DLC1; SAM domain of DLC1 subfamily

cd04375
Location:1087 → 1305

RhoGAP_DLC1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of DLC1-like proteins. DLC1 shows in vitro GAP activity towards RhoA and CDC42. Beside its C-terminal GAP domain, DLC1 also contains a SAM (sterile alpha motif) and a START ...

cl14643
Location:1330 → 1533

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
XM_017312892.2 → XP_017168381.1 rho GTPase-activating protein 7 isoform X2

UniProtKB/Swiss-Prot

Q3TRX3, Q3UH75, Q8R541, Q9R0Z9

Conserved Domains (2) summary

cd04375
Location:562 → 780

RhoGAP_DLC1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of DLC1-like proteins. DLC1 shows in vitro GAP activity towards RhoA and CDC42. Beside its C-terminal GAP domain, DLC1 also contains a SAM (sterile alpha motif) and a START ...

cl14643
Location:805 → 1008

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
XM_011242152.4 → XP_011240454.1 rho GTPase-activating protein 7 isoform X5

UniProtKB/TrEMBL

Q8C6U8
XM_036154159.1 → XP_036010052.1 rho GTPase-activating protein 7 isoform X4

UniProtKB/TrEMBL

Q8C6U8
XM_006509167.5 → XP_006509230.1 rho GTPase-activating protein 7 isoform X3

UniProtKB/TrEMBL

Q8C6U8
XM_011242153.4 → XP_011240455.1 rho GTPase-activating protein 7 isoform X6

UniProtKB/TrEMBL

Q8C6U8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178735.3: Suppressed sequence

Description

NM_178735.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the transcript retains intronic sequence at its 3' end.