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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	94137
Gene name	RP1 like 1
Gene symbol	RP1L1
Synonyms (NCBI Gene)	DCDC4BOCMDRP88
Chromosome	8
Chromosome location	8p23.1
Summary	This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of whi

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138816053	->A	Benign, conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant
rs187433303	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201810499	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs202082944	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267607017	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607018	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377269054	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs387907367	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs527236107	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs748984657	G>T	Pathogenic	Missense variant, coding sequence variant
rs756996764	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs767562322	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs771427543	->A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant
rs773440242	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs781490139	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs986853401	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1045490638	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1585959862	G>A	Pathogenic	Coding sequence variant, stop gained
rs1585963931	->AACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCT	Pathogenic	Coding sequence variant, inframe insertion

Show/Hide all (37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017889	hsa-miR-335-5p	Microarray	18185580
MIRT051113	hsa-miR-16-5p	CLASH	23622248
MIRT441710	hsa-miR-4428	PAR-CLIP	22100165
MIRT441708	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT441709	hsa-miR-1909-5p	PAR-CLIP	22100165
MIRT441706	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441710	hsa-miR-4428	PAR-CLIP	22100165
MIRT441708	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT441709	hsa-miR-1909-5p	PAR-CLIP	22100165
MIRT441706	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441710	hsa-miR-4428	PAR-CLIP	22100165
MIRT441708	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT441709	hsa-miR-1909-5p	PAR-CLIP	22100165
MIRT441706	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441710	hsa-miR-4428	PAR-CLIP	22100165
MIRT441708	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT441709	hsa-miR-1909-5p	PAR-CLIP	22100165
MIRT441706	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT1315310	hsa-miR-495	CLIP-seq
MIRT1315311	hsa-miR-570	CLIP-seq
MIRT1315312	hsa-miR-621	CLIP-seq
MIRT2318228	hsa-miR-1184	CLIP-seq
MIRT2318229	hsa-miR-1205	CLIP-seq
MIRT2318230	hsa-miR-146a	CLIP-seq
MIRT2318231	hsa-miR-146b-5p	CLIP-seq
MIRT2318232	hsa-miR-219-1-3p	CLIP-seq
MIRT2318233	hsa-miR-3158-5p	CLIP-seq
MIRT2318234	hsa-miR-3166	CLIP-seq
MIRT2318235	hsa-miR-3194-3p	CLIP-seq
MIRT2318236	hsa-miR-3198	CLIP-seq
MIRT2318237	hsa-miR-4309	CLIP-seq
MIRT2318238	hsa-miR-4653-3p	CLIP-seq
MIRT2318239	hsa-miR-4771	CLIP-seq
MIRT1315310	hsa-miR-495	CLIP-seq
MIRT2318240	hsa-miR-580	CLIP-seq
MIRT2318241	hsa-miR-589	CLIP-seq
MIRT2318242	hsa-miR-760	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	ISS
GO:0007601	Process	Visual perception	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0035082	Process	Axoneme assembly	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IBA
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	IMP	23281133
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0060041	Process	Retina development in camera-type eye	IBA

MIM	HGNC	e!Ensembl
608581	15946	ENSG00000183638

Q8IWN7

Protein name

Retinitis pigmentosa 1-like 1 protein

Protein function

Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03607	DCX	52 → 110	Doublecortin	Family
PF03607	DCX	169 → 225	Doublecortin	Family

Tissue specificity

TISSUE SPECIFICITY: Retinal-specific; expressed in photoreceptor.

Sequence

MNSTPRNAQAPSHRECFLPSVARTPSVTKVTPAKKITFLKRGDPRFAGVRLAVHQRAFKT
FSALMDELSQRVPLSFGVRSVTTPRGLHSLSALEQLEDGGCYLCSDKKPPKTPSGPGRPQ
ERNPTAQQLRDVEGQREAPGTSSSRKSLKTPRRILLIKNMDPRLQQTVVLSHRNTRNLAA
FLGKASDLLRFPVKQLYTTSGKKVDSLQALLHSPSVLVCAGHEAFRTPAMKNARRSEAET
LSGLTSRNKNGSWGPKTKPSVIHSRSPPGSTPRLPERPGPSNPPVGPAPGRHPQDTPAQS
GPLVAGDDMKKKVRMNEDGSLSVEMKVRFHLVGEDTLLWSRRMGRASALTAASGEDPVLG
EVDPLCCVWEGYPWGFSEPGVWGPRPCRVGCREVFGRGGQPGPKYEIWTNPLHASQGERV
AARKRWGLAQHVRCSGLWGHGTAGRERCSQDSASPASSTGLPEGSEPESSCCPRTPEDGV
DSASPSAQIGAERKAGGSLGEDPGLCIDGAGLGGPEQGGRLTPRARSEEGASSDSSASTG
SHEGSSEWGGRPQGCPGKARAETSQQEASEGGDPASPALSLSSLRSDDLQAETQGQGTEQ
ATGAAVTREPLVLGLSCSWDSEGASSTPSTCTSSQQGQRRHRSRASAMSSPSSPGLGRVA
PRGHPRHSHYRKDTHSPLDSSVTKQVPRPPERRRACQDGSVPRYSGSSSSTRTQASGNLR
PPSSGSLPSQDLLGTSSATVTPAVHSDFVSGVSPHNAPSAGWAGDAGSRTCSPAPIPPHT
SDSCSKSGAASLGEEARDTPQPSSPLVLQVGRPEQGAVGPHRSHCCSQPGTQPAQEAQRG
PSPEASWLCGRYCPTPPRGRPCPQRRSSSCGSTGSSHQSTARGPGGSPQEGTRQPGPTPS
PGPNSGASRRSSASQGAGSRGLSEEKTLRSGGGPQGQEEASGVSPSSLPRSSPEAVVREW
LDNIPEEPILMTYELADETTGAAGGGLRGPEVDPGDDHSLEGLGEPAQAGQQSLEGDPGQ
DPEPEGALLGSSDTGPQSGEGVPQGAAPEGVSEAPAEAGADREAPAGCRVSLRALPGRVS
ASTQIMRALMGSKQGRPSSVPEVSRPMARRLSCSAGALITCLASLQLFEEDLGSPASKVR
FKDSPRYQELLSISKDLWPGCDVGEDQLDSGLWELTWSQALPDLGSHAMTENFTPTSSSG
VDISSGSGGSGESSVPCAMDGTLVTQGTELPLKTSNQRPDSRTYESPGDLENQQQCCFPT
FLNARACACATNEDEAERDSEEQRASSNLEQLAENTVQEEVQLEETKEGTEGEGLQEEAV
QLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEG
PEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAE
PCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAA
ERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAEL
QQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFS
ERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATR
GPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGV
DEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISER
GETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDA
QEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETE
SVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEAL
EVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGE
TQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEG
VEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPE
SEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEE
AQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPP
PSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKA
TRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF

Sequence length

2400

Interactions

View interactions

1025

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Pathogenic	rs1585963931	RCV001257840
Occult macular dystrophy	Likely pathogenic; Pathogenic	rs267607017, rs371886218, rs1797772026	RCV000002277 RCV002489719 RCV001283766
Optic atrophy	Likely pathogenic; Pathogenic	rs267607017	RCV004814802
Retinal dystrophy	Likely pathogenic; Pathogenic	rs267607017, rs1250273464, rs767002915, rs752436391, rs1797840556, rs78127667, rs2117206210, rs2486317956, rs749294164, rs763759470, rs1797868307, rs749460193, rs371886218, rs1797910388	RCV001074376 RCV003891218 RCV003891225 RCV003891243 RCV003889385 RCV003889407 RCV003889419 RCV003889430 RCV003889435 RCV001075432 RCV001073976 RCV001075576 RCV001073663 RCV001074910
Retinitis pigmentosa 88	Likely pathogenic; Pathogenic	rs1797899160, rs760478436, rs777475406, rs755599243, rs267601690, rs267607017, rs387907367, rs1585959862, rs748984657, rs1585963931, rs749460193, rs371886218	RCV001352980 RCV001352996 RCV001376184 RCV001591847 RCV002225214 RCV001197672 RCV000043522 RCV001027883 RCV001027884 RCV001027885 RCV001593256 RCV002489719
RP1L1-related disorder	Likely pathogenic	rs902876049, rs2486300886	RCV003412168 RCV003408403

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs79329877, rs73662876	RCV005899293 RCV005899283
Clear cell carcinoma of kidney	Benign	rs115126172, rs79329877	RCV005899288 RCV005899294
Colon adenocarcinoma	Benign; Likely benign	rs151260617	RCV005899275
Epidermolysis bullosa simplex with nail dystrophy	Uncertain significance	rs775016366	RCV001089664
Gastric cancer	Benign; Likely benign	rs115126172, rs151260617	RCV005899289 RCV005899279
Hepatocellular carcinoma	Benign	rs368140961, rs190077685	RCV005899282 RCV005908824
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs151260617	RCV005899278
Malignant tumor of esophagus	Benign; Likely benign	rs79329877, rs151260617	RCV005899292 RCV005899277
Malignant tumor of urinary bladder	Benign; Likely benign	rs151260617	RCV005899276
Melanoma	Benign; Likely benign	rs151260617	RCV005899281
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs115126172, rs151260617, rs73662876	RCV005899290 RCV005899280 RCV005899284
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Uncertain significance	rs527236107, rs377269054	RCV000132695 RCV000132696
See cases	Conflicting classifications of pathogenicity	rs1797825562	RCV004584423
Stargardt disease	Likely benign	rs200854148	RCV000844931
Thymoma	Benign	rs115126172, rs79329877	RCV005899291 RCV005899295
Thyroid cancer, nonmedullary, 1	Benign	rs73662876	RCV005899286
Ulnar/fibula ray defect-brachydactyly syndrome	Benign; Likely benign	rs773440242	RCV000256389
Uterine carcinosarcoma	Benign	rs73662876	RCV005899285
Uterine corpus endometrial carcinoma	Benign	rs73662876	RCV005899287

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	38243319
Cone Dystrophy	Associate	25692141
Cone Rod Dystrophies	Associate	29555955
Disease	Associate	31028767, 32707201, 34994768, 38265784
Eye Diseases Hereditary	Associate	36729443
Genetic Diseases Inborn	Associate	38098057
Leber Congenital Amaurosis	Associate	33879469
Macular Degeneration	Associate	22605915, 28473427, 31028767, 32707201, 32940107, 34994768, 38265784
Neoplasms	Associate	38095640, 38243319
Optic Disk Drusen	Associate	39865650
Pancreatic Neoplasms	Associate	38095640
Retinal Diseases	Associate	36161854, 38098057
Retinitis Pigmentosa	Associate	32749464, 38417719
Scotoma	Associate	34994768
Stomach Neoplasms	Associate	26330360
Teratoma	Associate	36289533
Vision Disorders	Associate	32940107, 38265784

RP1L1 (RP1 like 1)