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

    Gene ID: 50768, updated on 9-Dec-2024

    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 alimentary system; central nervous system; heart; hemolymphoid system gland; 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
    NEW
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    Genomic context

    See Dlc1 in Genome Data Viewer
    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_000074.7Genomic Context describing neighboring genes Neighboring gene ubiquitin-conjugating enzyme E2E 1, UBC4/5 homolog pseudogene Neighboring gene tRNA methyltransferase 9B Neighboring gene STARR-seq mESC enhancer starr_21216 Neighboring gene STARR-seq mESC enhancer starr_21218 Neighboring gene STARR-seq mESC enhancer starr_21219 Neighboring gene STARR-seq mESC enhancer starr_21224 Neighboring gene predicted gene, 57789 Neighboring gene STARR-seq mESC enhancer starr_21231 Neighboring gene predicted gene, 53416 Neighboring gene predicted gene, 53415 Neighboring gene RIKEN cDNA G630064G18 gene Neighboring gene predicted gene, 39166 Neighboring gene expressed sequence AI429214

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (2) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21120

    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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_001194940.2NP_001181869.1  rho GTPase-activating protein 7 isoform 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:468527
      SAM_DLC1; SAM domain of DLC1 subfamily
      cd04375
      Location:10871305
      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:13301533
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
    2. NM_001194941.1NP_001181870.1  rho GTPase-activating protein 7 isoform 3

      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:51110
      SAM_DLC1; SAM domain of DLC1 subfamily
      smart00454
      Location:51110
      SAM; Sterile alpha motif
      cd04375
      Location:670888
      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:9131116
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
    3. NM_015802.3NP_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:1776
      SAM_DLC1; SAM domain of DLC1 subfamily
      smart00454
      Location:1776
      SAM; Sterile alpha motif
      cd04375
      Location:636854
      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:8791082
      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

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      37034893..37420343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      D5M8I5, E9PXD2
      Conserved Domains (3) summary
      cd09591
      Location:468527
      SAM_DLC1; SAM domain of DLC1 subfamily
      cd04375
      Location:10871305
      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:13301533
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
    2. XM_017312892.2XP_017168381.1  rho GTPase-activating protein 7 isoform X2

      UniProtKB/Swiss-Prot
      Q3TRX3, Q3UH75, Q8R541, Q9R0Z9
      Conserved Domains (2) summary
      cd04375
      Location:562780
      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:8051008
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
    3. XM_011242152.4XP_011240454.1  rho GTPase-activating protein 7 isoform X5

      UniProtKB/TrEMBL
      Q8C6U8
    4. XM_036154159.1XP_036010052.1  rho GTPase-activating protein 7 isoform X4

      UniProtKB/TrEMBL
      Q8C6U8
    5. XM_006509167.5XP_006509230.1  rho GTPase-activating protein 7 isoform X3

      UniProtKB/TrEMBL
      Q8C6U8
    6. XM_011242153.4XP_011240455.1  rho GTPase-activating protein 7 isoform X6

      UniProtKB/TrEMBL
      Q8C6U8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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.