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DLC1 DLC1 Rho GTPase activating protein [ Homo sapiens (human) ]

Gene ID: 10395, updated on 8-Oct-2018

Summary

Official Symbol
DLC1provided by HGNC
Official Full Name
DLC1 Rho GTPase activating proteinprovided by HGNC
Primary source
HGNC:HGNC:2897
See related
Ensembl:ENSG00000164741 MIM:604258; Vega:OTTHUMG00000090825
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HP; ARHGAP7; STARD12; p122-RhoGAP
Summary
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]
Annotation information
Note: DLC1 (Gene ID: 10395) and DYNLL1 (Gene ID: 8655) share the DLC1 symbol/alias in common. DLC1 is sometimes used as an alternative name for dynein light chain LC8-type 1 (DYNLL1), which can be confused with the official symbol for DLC1 Rho GTPase activating protein (DLC1). [05 Jul 2018]
Expression
Broad expression in lung (RPKM 21.4), fat (RPKM 12.0) and 21 other tissues See more
Orthologs

Genomic context

See DLC1 in Genome Data Viewer
Location:
8p22
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (13083361..13604616, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12940870..13373167, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene regulator of solute carriers 1 pseudogene Neighboring gene tRNA methyltransferase 9B (putative) Neighboring gene RNA, U6 small nuclear 842, pseudogene Neighboring gene uncharacterized LOC101930149 Neighboring gene MT-ND4 pseudogene 7 Neighboring gene RNA, 5S ribosomal pseudogene 255 Neighboring gene nuclear transcription factor Y subunit gamma pseudogene Neighboring gene chromosome 8 open reading frame 48 Neighboring gene uncharacterized LOC102725080 Neighboring gene uncharacterized LOC107986916

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Carcinoma of colon
MedGen: C0699790 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
NHGRI GWA Catalog
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
NHGRI GWA Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RhoA activity, organism-specific biosystem
    Regulation of RhoA activity
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21120

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
GTPase activator activity TAS
Traceable Author Statement
more info
 
SH2 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
forebrain development ISS
Inferred from Sequence or Structural Similarity
more info
 
heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
hindbrain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of focal adhesion assembly IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of execution phase of apoptosis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
caveola IDA
Inferred from Direct Assay
more info
PubMed 
cortical actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
rho GTPase-activating protein 7
Names
Rho-GTPase-activating protein 7
START domain-containing protein 12
StAR-related lipid transfer (START) domain containing 12
deleted in liver cancer 1 protein
deleted in liver cancer 1 variant 2
deleted in liver cancer variant 4
epididymis secretory sperm binding protein
rho-type GTPase-activating protein 7

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_015998.2 RefSeqGene

    Range
    94686..526243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164271.1NP_001157743.1  rho GTPase-activating protein 7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains a distinct 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1. Variants 4, 7, 8, and 9 all encode the same isoform (4).
    Source sequence(s)
    AC015641, AF026219, AK289734, AK299049
    Consensus CDS
    CCDS55201.1
    UniProtKB/Swiss-Prot
    Q96QB1
    UniProtKB/TrEMBL
    A8K119
    Related
    ENSP00000428028.1, OTTHUMP00000225457, ENST00000520226.5, OTTHUMT00000361833
    Conserved Domains (2) summary
    cd08908
    Location:8041007
    START_STARD12-like; C-terminal lipid-binding START domain of mammalian STARD12 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain
    cd04375
    Location:561779
    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 ...
  2. NM_001316668.1NP_001303597.1  rho GTPase-activating protein 7 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate exon in place of the first 5 exons compared to variant 1. The resulting isoform (5) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB051510, AC015641, DA401187
    Consensus CDS
    CCDS83253.1
    UniProtKB/Swiss-Prot
    Q96QB1
    Related
    ENSP00000422595.2, OTTHUMP00000218772, ENST00000512044.6, OTTHUMT00000361830
    Conserved Domains (4) summary
    cd08908
    Location:9121115
    START_STARD12-like; C-terminal lipid-binding START domain of mammalian STARD12 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain
    cd09591
    Location:51110
    SAM_DLC1; SAM domain of DLC1 subfamily
    smart00454
    Location:51110
    SAM; Sterile alpha motif
    cd04375
    Location:669887
    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 ...
  3. NM_001348081.1NP_001335010.1  rho GTPase-activating protein 7 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 1, encodes isoform 1.
    Source sequence(s)
    AC015641, AC019270, AC022832, AC022844, AC106845
    Consensus CDS
    CCDS5989.1
    UniProtKB/Swiss-Prot
    Q96QB1
    Conserved Domains (3) summary
    cd08908
    Location:13151518
    START_STARD12-like; C-terminal lipid-binding START domain of mammalian STARD12 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain
    cd09591
    Location:454513
    SAM_DLC1; SAM domain of DLC1 subfamily
    cd04375
    Location:10721290
    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 ...
  4. NM_001348082.1NP_001335011.1  rho GTPase-activating protein 7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 4, 8, and 9, encodes isoform 4.
    Source sequence(s)
    AC015641, AC019270, AC022832, AC022844, AC106845
    Consensus CDS
    CCDS55201.1
    UniProtKB/Swiss-Prot
    Q96QB1
    Conserved Domains (2) summary
    cd08908
    Location:8041007
    START_STARD12-like; C-terminal lipid-binding START domain of mammalian STARD12 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain
    cd04375
    Location:561779
    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 ...
  5. NM_001348083.1NP_001335012.1  rho GTPase-activating protein 7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 4, 7, and 9, encodes isoform 4.
    Source sequence(s)
    AC015641, AC106845
    Consensus CDS
    CCDS55201.1
    UniProtKB/Swiss-Prot
    Q96QB1
    Conserved Domains (2) summary
    cd08908
    Location:8041007
    START_STARD12-like; C-terminal lipid-binding START domain of mammalian STARD12 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain
    cd04375
    Location:561779
    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 ...
  6. NM_001348084.1NP_001335013.1  rho GTPase-activating protein 7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 4, 7, and 8, encodes isoform 4.
    Source sequence(s)
    AC015641
    Consensus CDS
    CCDS55201.1
    UniProtKB/Swiss-Prot
    Q96QB1
    Conserved Domains (2) summary
    cd08908
    Location:8041007
    START_STARD12-like; C-terminal lipid-binding START domain of mammalian STARD12 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain
    cd04375
    Location:561779
    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 ...
  7. NM_006094.4NP_006085.2  rho GTPase-activating protein 7 isoform 2

    See identical proteins and their annotated locations for NP_006085.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR, lacks a portion of the 5' coding region, and represents use of an alternate promoter, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variant 2 represents the predominant transcript.
    Source sequence(s)
    AC015641, BC095415
    Consensus CDS
    CCDS5990.1
    UniProtKB/Swiss-Prot
    Q96QB1
    Related
    ENSP00000351797.2, OTTHUMP00000116052, ENST00000358919.6, OTTHUMT00000207634
    Conserved Domains (4) summary
    cd08908
    Location:8781081
    START_STARD12-like; C-terminal lipid-binding START domain of mammalian STARD12 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain
    cd09591
    Location:1776
    SAM_DLC1; SAM domain of DLC1 subfamily
    smart00454
    Location:1776
    SAM; Sterile alpha motif
    cd04375
    Location:635853
    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 ...
  8. NM_024767.3NP_079043.3  rho GTPase-activating protein 7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC022844, AC106845, BC049842, DA549448
    Consensus CDS
    CCDS5991.2
    UniProtKB/Swiss-Prot
    Q96QB1
    Related
    ENSP00000425878.1, OTTHUMP00000218771, ENST00000511869.1, OTTHUMT00000361829
  9. NM_182643.2NP_872584.2  rho GTPase-activating protein 7 isoform 1

    See identical proteins and their annotated locations for NP_872584.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variant 1 represents a transcript that is found in low abundance. Variants 1 and 6 both encode the same isoform (1).
    Source sequence(s)
    AB051510, AC015641, AC022844, BC054511, DA549448
    Consensus CDS
    CCDS5989.1
    UniProtKB/Swiss-Prot
    Q96QB1
    Related
    ENSP00000276297.4, OTTHUMP00000116050, ENST00000276297.8, OTTHUMT00000207632
    Conserved Domains (3) summary
    cd08908
    Location:13151518
    START_STARD12-like; C-terminal lipid-binding START domain of mammalian STARD12 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain
    cd09591
    Location:454513
    SAM_DLC1; SAM domain of DLC1 subfamily
    cd04375
    Location:10721290
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    13083361..13604616 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273374.1XP_005273431.1  rho GTPase-activating protein 7 isoform X1

    See identical proteins and their annotated locations for XP_005273431.1

    UniProtKB/Swiss-Prot
    Q96QB1
    Conserved Domains (3) summary
    cd08908
    Location:13151518
    START_STARD12-like; C-terminal lipid-binding START domain of mammalian STARD12 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain
    cd09591
    Location:454513
    SAM_DLC1; SAM domain of DLC1 subfamily
    cd04375
    Location:10721290
    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 ...

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p12 PATCHES

    Range
    6278954..6332532 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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