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

Gene ID: 10395, updated on 26-Nov-2024

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; AllianceGenome:HGNC:2897
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
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Genomic context

See DLC1 in Genome Data Viewer
Location:
8p22
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (13083361..13604620, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (13349832..13871204, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12940870..13462129, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12915937-12916437 Neighboring gene RNA, U6 small nuclear 842, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:12947375-12948574 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:12957644-12958023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12962666-12963312 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:12965381-12965880 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12980176-12980808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12980809-12981441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12982170-12982670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12982671-12983171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18957 Neighboring gene uncharacterized LOC101930149 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:13223844-13225043 Neighboring gene MT-ND4 pseudogene 7 Neighboring gene uncharacterized LOC124901890 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101206 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 zinc finger protein 654 pseudogene

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Colorectal cancer
MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables GTPase activator activity TAS
Traceable Author Statement
more info
 
enables SH2 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables lipid binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in forebrain development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hindbrain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of focal adhesion assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of execution phase of apoptosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in caveola IDA
Inferred from Direct Assay
more info
PubMed 
located_in cortical actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
is_active_in focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
is_active_in membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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
epididymis secretory sperm binding protein
rho-type GTPase-activating protein 7

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.

Genomic

  1. NG_015998.2 RefSeqGene

    Range
    94755..526245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164271.2NP_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/TrEMBL
    A0AAG2U1V2
    Related
    ENSP00000428028.1, ENST00000520226.5
    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_001316668.2NP_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/TrEMBL
    A0AAG2U1V2
    Related
    ENSP00000422595.2, ENST00000512044.6
    Conserved Domains (3) 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
    cd04375
    Location:669887
    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 ...
  3. NM_001348081.2NP_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
    B4DR10, B8PTI0, E9PDZ8, E9PF76, E9PGY9, O14868, O43199, Q7Z5R8, Q86UC6, Q96QB1, Q9C0E0, Q9H7A2
    UniProtKB/TrEMBL
    A8K6L7
    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_001348082.2NP_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/TrEMBL
    A0AAG2U1V2
    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/TrEMBL
    A0AAG2U1V2
    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_001348084.2NP_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/TrEMBL
    A0AAG2U1V2
    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_001413124.1NP_001400053.1  rho GTPase-activating protein 7 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC015641, AC019270, AC022844, AC106845
    UniProtKB/Swiss-Prot
    B4DR10, B8PTI0, E9PDZ8, E9PF76, E9PGY9, O14868, O43199, Q7Z5R8, Q86UC6, Q96QB1, Q9C0E0, Q9H7A2
  8. NM_001413125.1NP_001400054.1  rho GTPase-activating protein 7 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC019270, AC022844, AC106845
  9. NM_001413126.1NP_001400055.1  rho GTPase-activating protein 7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC015641, AC106845
  10. NM_001413127.1NP_001400056.1  rho GTPase-activating protein 7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC015641, AC106845
  11. NM_001413128.1NP_001400057.1  rho GTPase-activating protein 7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC015641, AC106845
  12. NM_001413129.1NP_001400058.1  rho GTPase-activating protein 7 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC015641, AC106845
  13. NM_001413130.1NP_001400059.1  rho GTPase-activating protein 7 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC015641, AC106845
  14. NM_001413131.1NP_001400060.1  rho GTPase-activating protein 7 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC015641, AC106845
  15. NM_001413132.1NP_001400061.1  rho GTPase-activating protein 7 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC015641, AC106845
  16. NM_001413133.1NP_001400062.1  rho GTPase-activating protein 7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC015641, AC106845
  17. NM_001413134.1NP_001400063.1  rho GTPase-activating protein 7 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC106845
  18. NM_001413135.1NP_001400064.1  rho GTPase-activating protein 7 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC015641
  19. NM_001413136.1NP_001400065.1  rho GTPase-activating protein 7 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC015641
  20. NM_001413137.1NP_001400066.1  rho GTPase-activating protein 7 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC015641
  21. NM_001413138.1NP_001400067.1  rho GTPase-activating protein 7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC015641
  22. NM_001413139.1NP_001400068.1  rho GTPase-activating protein 7 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC015641
  23. NM_001413140.1NP_001400069.1  rho GTPase-activating protein 7 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC015641
  24. NM_006094.5NP_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/TrEMBL
    A0AAG2UXB5, A8K119
    Related
    ENSP00000351797.2, ENST00000358919.6
    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 ...
  25. NM_024767.5NP_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, ENST00000511869.1
  26. NM_182643.3NP_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
    B4DR10, B8PTI0, E9PDZ8, E9PF76, E9PGY9, O14868, O43199, Q7Z5R8, Q86UC6, Q96QB1, Q9C0E0, Q9H7A2
    UniProtKB/TrEMBL
    A8K6L7
    Related
    ENSP00000276297.4, ENST00000276297.9
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    13083361..13604620 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    6278952..6332884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    13349832..13871204 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)