• Gene id: 57589

Gene Summary

• Gene Symbol: RIC1   Gene   UCSC   Ensembl
• Aliases: CATIFA, CIP150, KIAA1432, bA207C16.1
• Gene name: RIC1 homolog, RAB6A GEF complex partner 1
• Alternate names: RAB6A-GEF complex partner protein 1, RAB6A GEF complex partner 1, connexin 43-interacting protein 150 kDa, connexin-43-interacting protein of 150 kDa, protein RIC1 homolog,
• Gene location: 9p24.1 (5629029: 5778632)     Exons: 28     NC_000009.12
• OMIM: 610354

Protein Summary

• Protein general information: Q4ADV7  
  • Name: RAB6A GEF complex partner protein 1 (Connexin 43 interacting protein of 150 kDa) (Protein RIC1 homolog)
  • Length: 1423  
  • Mass: 159301
  • Tissue specificity: Present in kidney and various cell lines (at protein level). Widely expressed at low level. {ECO
• Sequence:

  MYFLSGWPKRLLCPLGSPAEAPFHVQSDPQRAFFAVLAAARLSIWYSRPSVLIVTYKEPAKSSTQFGSYKQAEWR
  PDSTMIAVSTANGYILFFHITSTRGDKYLYEPVYPKGSPQMKGTPHFKEEQCAPALNLEMRKILDLQAPIMSLQS
  VLEDLLVATSDGLLHLIHWEGMTNGRKAINLCTVPFSVDLQSSRVGSFLGFTDVHIRDMEYCATLDGFAVVFNDG
  KVGFITPVSSRFTAEQLHGVWPQDVVDGTCVAVNNKYRLMAFGCVSGSVQVYTIDNSTGAMLLSHKLELTAKQYP
  DIWNKTGAVKLMRWSPDNSVVIVTWEYGGLSLWSVFGAQLICTLGGDFAYRSDGTKKDPLKINSMSWGAEGYHLW
  VISGFGSQNTEIESDLRSVVKQPSILLFQFIKSVLTVNPCMSNQEQVLLQGEDRLYLNCGEASQTQNPRSSSTHS
  EHKPSREKSPFADGGLESQGLSTLLGHRHWHVVQISSTYLESNWPIRFSAIDKLGQNIAVVGKFGFAHYSLLTKK
  WKLFGNITQEQNMIVTGGLAWWNDFMVLACYNINDRQEELRVYLRTSNLDNAFAHVTKAQAETLLLSVFQDMVIV
  FRADCSICLYSIERKSDGPNTTAGIQVLQEVSMSRYIPHPFLVVSVTLTSVSTENGITLKMPQQARGAESIMLNL
  AGQLIMMQRDRSGPQIREKDSNPNNQRKLLPFCPPVVLAQSVENVWTTCRANKQKRHLLEALWLSCGGAGMKVWL
  PLFPRDHRKPHSFLSQRIMLPFHINIYPLAVLFEDALVLGAVNDTLLYDSLYTRNNAREQLEVLFPFCVVERTSQ
  IYLHHILRQLLVRNLGEQALLLAQSCATLPYFPHVLELMLHEVLEEEATSREPIPDPLLPTVAKFITEFPLFLQT
  VVHCARKTEYALWNYLFAAVGNPKDLFEECLMAQDLDTAASYLIILQNMEVPAVSRQHATLLFNTALEQGKWDLC
  RHMIRFLKAIGSGESETPPSTPTAQEPSSSGGFEFFRNRSISLSQSAENVPASKFSLQKTLSMPSGPSGKRWSKD
  SDCAENMYIDMMLWRHARRLLEDVRLKDLGCFAAQLGFELISWLCKERTRAARVDNFVIALKRLHKDFLWPLPII
  PASSISSPFKNGKYRTVGEQLLKSQSADPFLNLEMDAGISNIQRSQSWLSNIGPTHHEIDTASSHGPQMQDAFLS
  PLSNKGDECSIGSATDLTESSSMVDGDWTMVDENFSTLSLTQSELEHISMELASKGPHKSQVQLRYLLHIFMEAG
  CLDWCIVIGLILRESSIINQILVITQSSEVDGEMLQNIKTGLHAVDRWASTDCPGYKPFLNIIKPQLQKLSEITE
  EQVQPDAFQPITMGKTPEQTSPRAEESRGSSSHGSIPQGEVGSSNMVSRKEEDTAQAEEEEPFQDGTYDCSVS

• Structural information:
  • Interpro: IPR009771  IPR040096  IPR015943  IPR036322  
  • STRING: ENSP00000416696
• Other Databases: GeneCards:  RIC1  Malacards:  RIC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042147	retrograde transport, endosome to Golgi	IBA	biological process
GO:0034066	RIC1-RGP1 guanyl-nucleotide exchange factor complex	IBA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0000139	Golgi membrane	IBA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0034066	RIC1-RGP1 guanyl-nucleotide exchange factor complex	IDA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0003330	regulation of extracellular matrix constituent secretion	IMP	biological process
GO:1904888	cranial skeletal system development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:1903363	negative regulation of cellular protein catabolic process	IMP	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0034066	RIC1-RGP1 guanyl-nucleotide exchange factor complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq