• Gene id: 57096

Gene Summary

• Gene Symbol: RPGRIP1   Gene   UCSC   Ensembl
• Aliases: CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
• Gene name: RPGR interacting protein 1
• Alternate names: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1, retinitis pigmentosa GTPase regulator interacting protein 1,
• Gene location: 14q11.2 (21287976: 21351315)     Exons: 25     NC_000014.9
• Gene summary(Entrez): This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by R
• OMIM: 605446

Protein Summary

• Protein general information: Q96KN7  
  • Name: X linked retinitis pigmentosa GTPase regulator interacting protein 1 (RPGR interacting protein 1)
  • Length: 1286  
  • Mass: 146682
  • Tissue specificity: Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments. {ECO
• Sequence:

  MSHLVDPTSGDLPVRDIDAIPLVLPASKGKNMKTQPPLSRMNREELEDSFFRLREDHMLVKELSWKQQDEIKRLR
  TTLLRLTAAGRDLRVAEEAAPLSETARRGQKAGWRQRLSMHQRPQMHRLQGHFHCVGPASPRRAQPRVQVGHRQL
  HTAGAPVPEKPKRGPRDRLSYTAPPSFKEHATNENRGEVASKPSELVSGSNSIISFSSVISMAKPIGLCMPNSAH
  IMASNTMQVEEPPKSPEKMWPKDENFEQRSSLECAQKAAELRASIKEKVELIRLKKLLHERNASLVMTKAQLTEV
  QEAYETLLQKNQGILSAAHEALLKQVNELRAELKEESKKAVSLKSQLEDVSILQMTLKEFQERVEDLEKERKLLN
  DNYDKLLESMLDSSDSSSQPHWSNELIAEQLQQQVSQLQDQLDAELEDKRKVLLELSREKAQNEDLKLEVTNILQ
  KHKQEVELLQNAATISQPPDRQSEPATHPAVLQENTQIEPSEPKNQEEKKLSQVLNELQVSHAETTLELEKTRDM
  LILQRKINVCYQEELEAMMTKADNDNRDHKEKLERLTRLLDLKNNRIKQLEGILRSHDLPTSEQLKDVAYGTRPL
  SLCLETLPAHGDEDKVDISLLHQGENLFELHIHQAFLTSAALAQAGDTQPTTFCTYSFYDFETHCTPLSVGPQPL
  YDFTSQYVMETDSLFLHYLQEASARLDIHQAMASEHSTLAAGWICFDRVLETVEKVHGLATLIGAGGEEFGVLEY
  WMRLRFPIKPSLQACNKRKKAQVYLSTDVLGGRKAQEEEFRSESWEPQNELWIEITKCCGLRSRWLGTQPSPYAV
  YRFFTFSDHDTAIIPASNNPYFRDQARFPVLVTSDLDHYLRREALSIHVFDDEDLEPGSYLGRARVPLLPLAKNE
  SIKGDFNLTDPAEKPNGSIQVQLDWKFPYIPPESFLKPEAQTKGKDTKDSSKISSEEEKASFPSQDQMASPEVPI
  EAGQYRSKRKPPHGGERKEKEHQVVSYSRRKHGKRIGVQGKNRMEYLSLNILNGNTPEQVNYTEWKFSETNSFIG
  DGFKNQHEEEEMTLSHSALKQKEPLHPVNDKESSEQGSEVSEAQTTDSDDVIVPPMSQKYPKADSEKMCIEIVSL
  AFYPEAEVMSDENIKQVYVEYKFYDLPLSETETPVSLRKPRAGEEIHFHFSKVIDLDPQEQQGRRRFLFDMLNGQ
  DPDQGHLKFTVVSDPLDEEKKECEEVGYAYLQLWQILESGRDILEQELDIVSPEDLATPIGRLKVSLQAAAVLHA
  IYKEMTEDLFS

• Structural information:
  • Protein Domains: (781..90-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR021656  IPR000008  IPR035892  IPR031134  IPR041091   IPR031139  
  • Prosite: PS50004
  • PDB: 4QAM
  • PDBsum: 4QAM
  • STRING: ENSP00000382895
• Other Databases: GeneCards:  RPGRIP1  Malacards:  RPGRIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0042462	eye photoreceptor cell development	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0120206	photoreceptor distal connecting cilium	IEA	cellular component
GO:0097730	non-motile cilium	IEA	cellular component
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005930	axoneme	IEA	cellular component
GO:0061351	neural precursor cell proliferation	IEA	biological process
GO:0042462	eye photoreceptor cell development	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Leber congenital amaurosis	KEGG:H00837
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Leber congenital amaurosis	KEGG:H00837
Retinitis pigmentosa	PMID:12920076
Leber hereditary optic neuropathy	PMID:11283794
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq