• Gene id: 10395

Gene Summary

• Gene Symbol: DLC1   Gene   UCSC   Ensembl
• Aliases: ARHGAP7, HP, STARD12, p122-RhoGAP
• Gene name: DLC1 Rho GTPase activating protein
• Alternate names: rho GTPase-activating protein 7, 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 varia,
• Gene location: 8p22 (44213470: 44220672)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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 inv
• OMIM: 604258

Protein Summary

• Protein general information: Q96QB1  
  • Name: Rho GTPase activating protein 7 (Deleted in liver cancer 1 protein) (DLC 1) (HP protein) (Rho type GTPase activating protein 7) (START domain containing protein 12) (StARD12) (StAR related lipid transfer protein 12)
  • Length: 1528  
  • Mass: 170591
  • 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.
• Sequence:

  MSVAIRKRSWEEHVTHWMGQPFNSDDRNTACHHGLVADSLQASMEKDATLNVDRKEKCVSLPDCCHGSELRDFPG
  RPMGHLSKDVDENDSHEGEDQFLSLEASTETLVHVSDEDNNADLCLTDDKQVLNTQGQKTSGQHMIQGAGSLEKA
  LPIIQSNQVSSNSWGIAGETELALVKESGERKVTDSISKSLELCNEISLSEIKDAPKVNAVDTLNVKDIAPEKQL
  LNSAVIAQQRRKPDPPKDENERSTCNVVQNEFLDTPCTNRGLPLLKTDFGSCLLQPPSCPNGMSAENGLEKSGFS
  QHQNKSPPKVKAEDGMQCLQLKETLATQEPTDNQVRLRKRKEIREDRDRARLDSMVLLIMKLDQLDQDIENALST
  SSSPSGTPTNLRRHVPDLESGSESGADTISVNQTRVNLSSDTESTDLPSSTPVANSGTKPKTTAIQGISEKEKAE
  IEAKEACDWLRATGFPQYAQLYEDFLFPIDISLVKREHDFLDRDAIEALCRRLNTLNKCAVMKLEISPHRKRSDD
  SDEDEPCAISGKWTFQRDSKRWSRLEEFDVFSPKQDLVPGSPDDSHPKDGPSPGGTLMDLSERQEVSSVRSLSST
  GSLPSHAPPSEDAATPRTNSVISVCSSSNLAGNDDSFGSLPSPKELSSFSFSMKGHEKTAKSKTRSLLKRMESLK
  LKSSHHSKHKAPSKLGLIISGPILQEGMDEEKLKQLNCVEISALNGNRINVPMVRKRSVSNSTQTSSSSSQSETS
  SAVSTPSPVTRTRSLSACNKRVGMYLEGFDPFNQSTFNNVVEQNFKNRESYPEDTVFYIPEDHKPGTFPKALTNG
  SFSPSGNNGSVNWRTGSFHGPGHISLRRENSSDSPKELKRRNSSSSMSSRLSIYDNVPGSILYSSSGDLADLENE
  DIFPELDDILYHVKGMQRIVNQWSEKFSDEGDSDSALDSVSPCPSSPKQIHLDVDNDRTTPSDLDSTGNSLNEPE
  EPSEIPERRDSGVGASLTRSNRHRLRWHSFQSSHRPSLNSVSLQINCQSVAQMNLLQKYSLLKLTALLEKYTPSN
  KHGFSWAVPKFMKRIKVPDYKDRSVFGVPLTVNVQRTGQPLPQSIQQAMRYLRNHCLDQVGLFRKSGVKSRIQAL
  RQMNEGAIDCVNYEGQSAYDVADMLKQYFRDLPEPLMTNKLSETFLQIYQYVPKDQRLQAIKAAIMLLPDENREV
  LQTLLYFLSDVTAAVKENQMTPTNLAVCLAPSLFHLNTLKRENSSPRVMQRKQSLGKPDQKDLNENLAATQGLAH
  MIAECKKLFQVPEEMSRCRNSYTEQELKPLTLEALGHLGNDDSADYQHFLQDCVDGLFKEVKEKFKGWVSYSTSE
  QAELSYKKVSEGPPLRLWRSVIEVPAVPEEILKRLLKEQHLWDVDLLDSKVIEILDSQTEIYQYVQNSMAPHPAR
  DYVVLRTWRTNLPKGACALLLTSVDHDRAPVVGVRVNVLLSRYLIEPCGPGKSKLTYMCRVDLRGHMPEWYTKSF
  GHLCAAEVVKIRDSFSNQNTETKDTKSR

• Structural information:
  • Protein Domains: (448..51-)
    (/note="SAM-)
    (1078..128-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172-)
    (1314..152-)
    (/note="START-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00197"-)
  • Interpro: IPR028854  IPR008936  IPR000198  IPR001660  IPR013761   IPR023393  IPR002913  
  • Prosite: PS50238 PS50848
  • PDB: 2DKY 2GYT 2KAP 2LOZ 3KUQ 5FZT
  • PDBsum: 2DKY 2GYT 2KAP 2LOZ 3KUQ 5FZT
  • DIP: 56928
  • STRING: ENSP00000276297
• Other Databases: GeneCards:  DLC1  Malacards:  DLC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0045121	membrane raft	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005925	focal adhesion	IBA	cellular component
GO:0035023	regulation of Rho protein signal transduction	IBA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0035023	regulation of Rho protein signal transduction	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0051497	negative regulation of stress fiber assembly	IDA	biological process
GO:0035307	positive regulation of protein dephosphorylation	IDA	biological process
GO:0006915	apoptotic process	IDA	biological process
GO:0005925	focal adhesion	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	NOT|molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0005901	caveola	IDA	cellular component
GO:1900119	positive regulation of execution phase of apoptosis	IDA	biological process
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0030864	cortical actin cytoskeleton	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0051895	negative regulation of focal adhesion assembly	IDA	biological process
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0032587	ruffle membrane	IDA	cellular component
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0035024	negative regulation of Rho protein signal transduction	IMP	biological process
GO:0030900	forebrain development	ISS	biological process
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0048041	focal adhesion assembly	ISS	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003007	heart morphogenesis	ISS	biological process
GO:0001843	neural tube closure	ISS	biological process
GO:0021575	hindbrain morphogenesis	ISS	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq