• Gene id: 6101

Gene Summary

• Gene Symbol: RP1   Gene   UCSC   Ensembl
• Aliases: DCDC4A, ORP1
• Gene name: RP1 axonemal microtubule associated
• Alternate names: oxygen-regulated protein 1, doublecortin domain containing 4A, retinitis pigmentosa 1 (autosomal dominant), retinitis pigmentosa 1 protein, retinitis pigmentosa RP1 protein,
• Gene location: 8q11.23-q12.1 (125143527: 124942607)     Exons: 21     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated prote
• OMIM: 603937

Protein Summary

• Protein general information: P56715  
  • Name: Oxygen regulated protein 1 (Retinitis pigmentosa 1 protein) (Retinitis pigmentosa RP1 protein)
  • Length: 2156  
  • Mass: 240661
  • Tissue specificity: Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas.
• Sequence:

  MSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNLSRKVP
  LPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMP
  RPPRSLVVFRNGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGRE
  PFKPGNYDIQKYLLPARLPGISQRVYPKGNAKSESRKISTHMSSSSRSQIYSVSSEKTHNNDCYLDYSFVPEKYL
  ALEKNDSQNLPIYPSEDDIEKSIIFNQDGTMTVEMKVRFRIKEEETIKWTTTVSKTGPSNNDEKSEMSFPGRTES
  RSSGLKLAACSFSADVSPMERSSNQEGSLAEEINIQMTDQVAETCSSASWENATVDTDIIQGTQDQAKHRFYRPP
  TPGLRRVRQKKSVIGSVTLVSETEVQEKMIGQFSYSEERESGENKSEYHMFTHSCSKMSSVSNKPVLVQINNNDQ
  MEESSLERKKENSLLKSSAISAGVIEITSQKMLEMSHNNGLPSTISNNSIVEEDVVDCVVLDNKTGIKNFKTYGN
  TNDRFSPISADATHFSSNNSGTDKNISEAPASEASSTVTARIDRLINEFAQCGLTKLPKNEKKILSSVASKKKKK
  SRQQAINSRYQDGQLATKGILNKNERINTKGRITKEMIVQDSDSPLKGGILCEEDLQKSDTVIESNTFCSKSNLN
  STISKNFHRNKLNTTQNSKVQGLLTKRKSRSLNKISLGAPKKREIGQRDKVFPHNESKYCKSTFENKSLFHVFNI
  LEQKPKDFYAPQSQAEVASGYLRGMAKKSLVSKVTDSHITLKSQKKRKGDKVKASAILSKQHATTRANSLASLKK
  PDFPEAIAHHSIQNYIQSWLQNINPYPTLKPIKSAPVCRNETSVVNCSNNSFSGNDPHTNSGKISNFVMESNKHI
  TKIAGLTGDNLCKEGDKSFIANDTGEEDLHETQVGSLNDAYLVPLHEHCTLSQSAINDHNTKSHIAAEKSGPEKK
  LVYQEINLARKRQSVEAAIQVDPIEEETPKDLLPVLMLHQLQASVPGIHKTQNGVVQMPGSLAGVPFHSAICNSS
  TNLLLAWLLVLNLKGSMNSFCQVDAHKATNKSSETLALLEILKHIAITEEADDLKAAVANLVESTTSHFGLSEKE
  QDMVPIDLSANCSTVNIQSVPKCSENERTQGISSLDGGCSASEACAPEVCVLEVTCSPCEMCTVNKAYSPKETCN
  PSDTFFPSDGYGVDQTSMNKACFLGEVCSLTDTVFSDKACAQKENHTYEGACPIDETYVPVNVCNTIDFLNSKEN
  TYTDNLDSTEELERGDDIQKDLNILTDPEYKNGFNTLVSHQNVSNLSSCGLCLSEKEAELDKKHSSLDDFENCSL
  RKFQDENAYTSFDMEEPRTSEEPGSITNSMTSSERNISELESFEELENHDTDIFNTVVNGGEQATEELIQEEVEA
  SKTLELIDISSKNIMEEKRMNGIIYEIISKRLATPPSLDFCYDSKQNSEKETNEGETKMVKMMVKTMETGSYSES
  SPDLKKCIKSPVTSDWSDYRPDSDSEQPYKTSSDDPNDSGELTQEKEYNIGFVKRAIEKLYGKADIIKPSFFPGS
  TRKSQVCPYNSVEFQCSRKASLYDSEGQSFGSSEQVSSSSSMLQEFQEERQDKCDVSAVRDNYCRGDIVEPGTKQ
  NDDSRILTDIEEGVLIDKGKWLLKENHLLRMSSENPGMCGNADTTSVDTLLDNNSSEVPYSHFGNLAPGPTMDEL
  SSSELEELTQPLELKCNYFNMPHGSDSEPFHEDLLDVRNETCAKERIANHHTEEKGSHQSERVCTSVTHSFISAG
  NKVYPVSDDAIKNQPLPGSNMIHGTLQEADSLDKLYALCGQHCPILTVIIQPMNEEDRGFAYRKESDIENFLGFY
  LWMKIHPYLLQTDKNVFREENNKASMRQNLIDNAIGDIFDQFYFSNTFDLMGKRRKQKRINFLGLEEEGNLKKFQ
  PDLKERFCMNFLHTSLLVVGNVDSNTQDLSGQTNEIFKAVDENNNLLNNRFQGSRTNLNQVVRENINCHYFFEML
  GQACLLDICQVETSLNISNRNILELCMFEGENLFIWEEEDILNLTDLESSREQEDL

• Structural information:
  • Protein Domains: (36..11-)
    (/note="Doublecortin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00072-)
    (154..23-)
    (/note="Doublecortin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00072"-)
  • Interpro: IPR003533  IPR036572  IPR040163  
  • Prosite: PS50309
  • STRING: ENSP00000220676
• Other Databases: GeneCards:  RP1  Malacards:  RP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060041	retina development in camera-type eye	IBA	biological process
GO:0042461	photoreceptor cell development	IBA	biological process
GO:0005930	axoneme	IBA	cellular component
GO:0035082	axoneme assembly	IBA	biological process
GO:0046548	retinal rod cell development	ISS	biological process
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0042461	photoreceptor cell development	ISS	biological process
GO:0035845	photoreceptor cell outer segment organization	ISS	biological process
GO:0008017	microtubule binding	ISS	molecular function
GO:0046549	retinal cone cell development	ISS	biological process
GO:0035082	axoneme assembly	ISS	biological process
GO:0005875	microtubule associated complex	ISS	cellular component
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005874	microtubule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007603	phototransduction, visible light	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0032391	photoreceptor connecting cilium	IDA	cellular component
GO:0097733	photoreceptor cell cilium	IEA	cellular component
GO:0071482	cellular response to light stimulus	IEA	biological process
GO:0060042	retina morphogenesis in camera-type eye	IEA	biological process
GO:0046549	retinal cone cell development	IEA	biological process
GO:0035082	axoneme assembly	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005875	microtubule associated complex	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:1902857	positive regulation of non-motile cilium assembly	IEA	biological process
GO:0097542	ciliary tip	IEA	cellular component
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0046548	retinal rod cell development	IEA	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0042461	photoreceptor cell development	IEA	biological process
GO:0035845	photoreceptor cell outer segment organization	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0005930	axoneme	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
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)