• Gene id: 26130

Gene Summary

• Gene Symbol: GAPVD1   Gene   UCSC   Ensembl
• Aliases: GAPEX5, GAPex-5, RAP6
• Gene name: GTPase activating protein and VPS9 domains 1
• Alternate names: GTPase-activating protein and VPS9 domain-containing protein 1, Rab5 exchange factor, Rab5-activating protein 6,
• Gene location: 9q33.3 (125261793: 125367206)     Exons: 32     NC_000009.12
• OMIM: 611714

Protein Summary

• Protein general information: Q14C86  
  • Name: GTPase activating protein and VPS9 domain containing protein 1 (GAPex 5) (Rab5 activating protein 6)
  • Length: 1478  
  • Mass: 164980
• Sequence:

  MVKLDIHTLAHHLKQERLYVNSEKQLIQRLNADVLKTAEKLYRTAWIAKQQRINLDRLIITSAEASPAECCQHAK
  ILEDTQFVDGYKQLGFQETAYGEFLSRLRENPRLIASSLVAGEKLNQENTQSVIYTVFTSLYGNCIMQEDESYLL
  QVLRYLIEFELKESDNPRRLLRRGTCAFSILFKLFSEGLFSAKLFLTATLHEPIMQLLVEDEDHLETDPNKLIER
  FSPSQQEKLFGEKGSDRFRQKVQEMVESNEAKLVALVNKFIGYLKQNTYCFPHSLRWIVSQMYKTLSCVDRLEVG
  EVRAMCTDLLLACFICPAVVNPEQYGIISDAPINEVARFNLMQVGRLLQQLAMTGSEEGDPRTKSSLGKFDKSCV
  AAFLDVVIGGRAVETPPLSSVNLLEGLSRTVVYITYSQLITLVNFMKSVMSGDQLREDRMALDNLLANLPPAKPG
  KSSSLEMTPYNTPQLSPATTPANKKNRLPIATRSRSRTNMLMDLHMDHEGSSQETIQEVQPEEVLVISLGTGPQL
  TPGMMSENEVLNMQLSDGGQGDVPVDENKLHGKPDKTLRFSLCSDNLEGISEGPSNRSNSVSSLDLEGESVSELG
  AGPSGSNGVEALQLLEHEQATTQDNLDDKLRKFEIRDMMGLTDDRDISETVSETWSTDVLGSDFDPNIDEDRLQE
  IAGAAAENMLGSLLCLPGSGSVLLDPCTGSTISETTSEAWSVEVLPSDSEAPDLKQEERLQELESCSGLGSTSDD
  TDVREVSSRPSTPGLSVVSGISATSEDIPNKIEDLRSECSSDFGGKDSVTSPDMDEITHGAHQLTSPPSQSESLL
  AMFDPLSSHEGASAVVRPKVHYARPSHPPPDPPILEGAVGGNEARLPNFGSHVLTPAEMEAFKQRHSYPERLVRS
  RSSDIVSSVRRPMSDPSWNRRPGNEERELPPAAAIGATSLVAAPHSSSSSPSKDSSRGETEERKDSDDEKSDRNR
  PWWRKRFVSAMPKAPIPFRKKEKQEKDKDDLGPDRFSTLTDDPSPRLSAQAQVAEDILDKYRNAIKRTSPSDGAM
  ANYESTGDNHDRDLSSKLLYHSDKEVMGDGESAHDSPRDEALQNISADDLPDSASQAAHPQDSAFSYRDAKKKLR
  LALCSADSVAFPVLTHSTRNGLPDHTDPEDNEIVCFLKVQIAEAINLQDKNLMAQLQETMRCVCRFDNRTCRKLL
  ASIAEDYRKRAPYIAYLTRCRQGLQTTQAHLERLLQRVLRDKEVANRYFTTVCVRLLLESKEKKIREFIQDFQKL
  TAADDKTAQVEDFLQFLYGAMAQDVIWQNASEEQLQDAQLAIERSVMNRIFKLAFYPNQDGDILRDQVLHEHIQR
  LSKVVTANHRALQIPEVYLREAPWPSAQSEIRTISAYKTPRDKVQCILRMCSTIMNLLSLANEDSVPGADDFVPV
  LVFVLIKANPPCLLSTVQYISSFYASCLSGEESYWWMQFTAAVEFIKTIDDRK

• Structural information:
  • Protein Domains: (131..35-)
    (/note="Ras-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00167-)
    (1338..147-)
    (/note="VPS9-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00550"-)
  • Interpro: IPR041545  IPR001936  IPR008936  IPR003123  IPR037191  
  • Prosite: PS50018 PS51205
  • STRING: ENSP00000377664
• Other Databases: GeneCards:  GAPVD1  Malacards:  GAPVD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0051223	regulation of protein transport	IEA	biological process
GO:0032794	GTPase activating protein binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0051223	regulation of protein transport	IMP	biological process
GO:0032794	GTPase activating protein binding	IMP	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IMP	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray