Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6101
Gene name Gene Name - the full gene name approved by the HGNC.	RP1 axonemal microtubule associated
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RP1
Synonyms (NCBI Gene) Gene synonyms aliases	DCDC4A, ORP1
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q11.23-q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(71)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894082	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained, genic upstream transcript variant
rs104894083	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained, genic upstream transcript variant
rs118031911	C>T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, intron variant
rs142600056	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs146256526	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, intron variant
rs151316028	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, intron variant
rs180729424	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs186571865	T>C	Likely-benign, benign, likely-pathogenic, benign-likely-benign	Genic upstream transcript variant, intron variant
rs201493928	C>T	Pathogenic	Genic upstream transcript variant, stop gained, intron variant, coding sequence variant
rs398124220	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs527236105	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs527236106	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, intron variant
rs561075447	G>A	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, stop gained
rs750542962	CTCAA>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs753090404	T>-	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs755429480	C>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs760283610	->A	Pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs762951570	G>-	Likely-pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs765129639	AT>-	Likely-pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs769156393	C>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs769512989	->A	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant
rs769601671	T>-,TT	Pathogenic	Frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant
rs770659908	->C	Pathogenic	Frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant
rs775731489	C>A,G,T	Likely-pathogenic	Missense variant, stop gained, genic upstream transcript variant, intron variant, coding sequence variant
rs779334655	C>G	Pathogenic	Stop gained, genic upstream transcript variant, intron variant, coding sequence variant
rs786205589	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs794727640	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs797044735	->A	Pathogenic-likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs863223340	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs869320726	TAAAT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs869320727	AATA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs869320728	->TGAA	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs878853326	C>T	Pathogenic, likely-pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs878853327	G>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs878853328	C>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs878853329	GAAA>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs879399888	C>G,T	Likely-pathogenic	Stop gained, genic upstream transcript variant, missense variant, intron variant, coding sequence variant
rs886041040	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs1057518097	C>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1057524016	C>G	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, intron variant
rs1246397238	->GC	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1250214380	T>A,G	Likely-pathogenic	Stop gained, intron variant, genic upstream transcript variant, coding sequence variant
rs1278053918	ATAAG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant
rs1422250479	A>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1449723475	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554519533	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519538	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554519546	GATACTTTGTGAGG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554519554	->A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554519555	C>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519577	T>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519635	TT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554519651	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519662	T>AA	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519822	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554520068	G>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1563329888	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1563330595	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1563331742	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1585557752	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1585559122	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1585561400	CT>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1585563087	T>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1585563204	A>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1585563283	G>T	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585563328	GT>AA	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585563965	C>G	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585564175	CTTTGA>-	Pathogenic	Coding sequence variant, inframe indel, stop gained, intron variant, genic upstream transcript variant
rs1585564369	T>A	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585567204	G>T	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585569717	C>G	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018673	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
CREB1	Unknown	11593399

Show/Hide all(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	IDA	11773008
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	21148103
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	IEA
GO:0005875	Component	Microtubule associated complex	ISS
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10391211
GO:0007603	Process	Phototransduction, visible light	TAS	10391211
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0009416	Process	Response to light stimulus	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0032391	Component	Photoreceptor connecting cilium	IDA	11767049
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0035082	Process	Axoneme assembly	IBA
GO:0035082	Process	Axoneme assembly	IEA
GO:0035082	Process	Axoneme assembly	ISS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IBA
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	ISS
GO:0042461	Process	Photoreceptor cell development	IEA
GO:0042461	Process	Photoreceptor cell development	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IBA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0046548	Process	Retinal rod cell development	IEA
GO:0046548	Process	Retinal rod cell development	ISS
GO:0046549	Process	Retinal cone cell development	IEA
GO:0046549	Process	Retinal cone cell development	ISS
GO:0060041	Process	Retina development in camera-type eye	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0071482	Process	Cellular response to light stimulus	IEA
GO:0097542	Component	Ciliary tip	IEA
GO:0097733	Component	Photoreceptor cell cilium	IEA
GO:1902857	Process	Positive regulation of non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
603937	10263	ENSG00000104237

Protein

UniProt ID

P56715

Protein name

Oxygen-regulated protein 1 (Retinitis pigmentosa 1 protein) (Retinitis pigmentosa RP1 protein)

Protein function

Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and c

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03607	DCX	54 → 112	Doublecortin	Family
PF03607	DCX	171 → 227	Doublecortin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas.

Sequence

MSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSF
KSFDALLDNLSRKVPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKA
RRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPPRSLVVFRNGDPKTRRAVLLSRRVTQSF
EAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYDIQKYLLP
ARLPGISQRVYPKGNAKSESRKISTHMSSSSRSQIYSVSSEKTHNNDCYLDYSFVPEKYL
ALEKNDSQNLPIYPSEDDIEKSIIFNQDGTMTVEMKVRFRIKEEETIKWTTTVSKTGPSN
NDEKSEMSFPGRTESRSSGLKLAACSFSADVSPMERSSNQEGSLAEEINIQMTDQVAETC
SSASWENATVDTDIIQGTQDQAKHRFYRPPTPGLRRVRQKKSVIGSVTLVSETEVQEKMI
GQFSYSEERESGENKSEYHMFTHSCSKMSSVSNKPVLVQINNNDQMEESSLERKKENSLL
KSSAISAGVIEITSQKMLEMSHNNGLPSTISNNSIVEEDVVDCVVLDNKTGIKNFKTYGN
TNDRFSPISADATHFSSNNSGTDKNISEAPASEASSTVTARIDRLINEFAQCGLTKLPKN
EKKILSSVASKKKKKSRQQAINSRYQDGQLATKGILNKNERINTKGRITKEMIVQDSDSP
LKGGILCEEDLQKSDTVIESNTFCSKSNLNSTISKNFHRNKLNTTQNSKVQGLLTKRKSR
SLNKISLGAPKKREIGQRDKVFPHNESKYCKSTFENKSLFHVFNILEQKPKDFYAPQSQA
EVASGYLRGMAKKSLVSKVTDSHITLKSQKKRKGDKVKASAILSKQHATTRANSLASLKK
PDFPEAIAHHSIQNYIQSWLQNINPYPTLKPIKSAPVCRNETSVVNCSNNSFSGNDPHTN
SGKISNFVMESNKHITKIAGLTGDNLCKEGDKSFIANDTGEEDLHETQVGSLNDAYLVPL
HEHCTLSQSAINDHNTKSHIAAEKSGPEKKLVYQEINLARKRQSVEAAIQVDPIEEETPK
DLLPVLMLHQLQASVPGIHKTQNGVVQMPGSLAGVPFHSAICNSSTNLLLAWLLVLNLKG
SMNSFCQVDAHKATNKSSETLALLEILKHIAITEEADDLKAAVANLVESTTSHFGLSEKE
QDMVPIDLSANCSTVNIQSVPKCSENERTQGISSLDGGCSASEACAPEVCVLEVTCSPCE
MCTVNKAYSPKETCNPSDTFFPSDGYGVDQTSMNKACFLGEVCSLTDTVFSDKACAQKEN
HTYEGACPIDETYVPVNVCNTIDFLNSKENTYTDNLDSTEELERGDDIQKDLNILTDPEY
KNGFNTLVSHQNVSNLSSCGLCLSEKEAELDKKHSSLDDFENCSLRKFQDENAYTSFDME
EPRTSEEPGSITNSMTSSERNISELESFEELENHDTDIFNTVVNGGEQATEELIQEEVEA
SKTLELIDISSKNIMEEKRMNGIIYEIISKRLATPPSLDFCYDSKQNSEKETNEGETKMV
KMMVKTMETGSYSESSPDLKKCIKSPVTSDWSDYRPDSDSEQPYKTSSDDPNDSGELTQE
KEYNIGFVKRAIEKLYGKADIIKPSFFPGSTRKSQVCPYNSVEFQCSRKASLYDSEGQSF
GSSEQVSSSSSMLQEFQEERQDKCDVSAVRDNYCRGDIVEPGTKQNDDSRILTDIEEGVL
IDKGKWLLKENHLLRMSSENPGMCGNADTTSVDTLLDNNSSEVPYSHFGNLAPGPTMDEL
SSSELEELTQPLELKCNYFNMPHGSDSEPFHEDLLDVRNETCAKERIANHHTEEKGSHQS
ERVCTSVTHSFISAGNKVYPVSDDAIKNQPLPGSNMIHGTLQEADSLDKLYALCGQHCPI
LTVIIQPMNEEDRGFAYRKESDIENFLGFYLWMKIHPYLLQTDKNVFREENNKASMRQNL
IDNAIGDIFDQFYFSNTFDLMGKRRKQKRINFLGLEEEGNLKKFQPDLKERFCMNFLHTS
LLVVGNVDSNTQDLSGQTNEIFKAVDENNNLLNNRFQGSRTNLNQVVRENINCHYFFEML
GQACLLDICQVETSLNISNRNILELCMFEGENLFIWEEEDILNLTDLESSREQEDL

Sequence length

2156

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs1488237523, rs750542962, rs1585563283, rs878853327, rs1554519651, rs769512989, rs869320726, rs1806043158, rs561075447, rs1231321479, rs878853329, rs1230883512, rs886210482, rs878853328, rs1806057300 View all (33 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa 1, retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs869320726, rs1585563087, rs1554519533, rs1554519651, rs1805984836, rs561075447, rs1585569717, rs1278053918, rs1488237523, rs1250214380, rs1554519538, rs750542962, rs1585563328, rs1231321479, rs878853327 View all (47 more)	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Biliary Atresia	Biliary atresia	N/A	N/A	GWAS
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Intracranial Aneurysm	Intracranial aneurysm	N/A	N/A	GWAS
Leber Congenital Amaurosis	Leber congenital amaurosis 1	N/A	N/A	ClinVar
Multiple myeloma	Multiple myeloma	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Albinism	Associate	39596324
Amaurosis congenita of Leber type 1	Associate	33712029
Arthritis Rheumatoid	Stimulate	10366101
Atrophy	Associate	32565670
Autoimmune Diseases	Associate	7610041
Carcinoma Renal Cell	Associate	26061684
Cataract	Associate	37493686
Choroideremia	Associate	23940504
Ciliopathies	Associate	31253780, 39596324
Color Vision Defects	Associate	23940504
Cone Rod Dystrophies	Associate	22052604, 23940504, 25692139, 32565670
Crohn Disease	Associate	37493686
Disease	Associate	33712029
Emphysema	Associate	16504044
Emphysema	Inhibit	18295997
Ependymoma	Associate	31822682
Fundus Albipunctatus	Associate	32587456
Glioma	Associate	15460906
Intracranial Aneurysm	Associate	31250579
Leber Congenital Amaurosis	Associate	23940504, 31253780
Macular Degeneration	Associate	32565670, 34183725
Macular Edema	Associate	37648803
Malignant Teratocarcinosarcoma	Associate	31650822
Monosomy	Associate	21199755
Neoplasms	Associate	14514668, 31822682
Pancreatitis	Associate	23844040
Refsum Disease Infantile	Associate	27391102, 30718709
Retinal Diseases	Associate	10391212, 10484783, 32423767, 32565670, 40724865
Retinal Dystrophies	Associate	28761320, 29068140, 32565670, 33712029, 35205402, 39596324
Retinitis	Associate	11864893, 40724865
Retinitis Pigmentosa	Associate	10391212, 10484783, 11864893, 15994872, 16568030, 16597330, 16799052, 19339744, 20664799, 21347327, 22052604, 22110072, 23049240, 23077400, 23940504 View all (26 more)
Retinitis Pigmentosa	Stimulate	32098976
Spinal Cord Neoplasms	Associate	31822682
Stomach Neoplasms	Associate	29358861
Usher Syndromes	Associate	23940504

RP1 (RP1 axonemal microtubule associated)