RP1L1 - RP1 like 1 Gene

Homo sapiens

Also known as OCMD; RP88; DCDC4B

Gene ID: 94137 | Gene type: protein coding

About RP1L1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:10,606,349-10,655,143 (from NCBI)

This gene has 2 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 7 phenotypes. Low expression observed in reference dataset.

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 which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]

RP1L1 Products(1)

mRNA	Protein	Name
NM_178857.6	NP_849188.4	retinitis pigmentosa 1-like 1 protein

RP1L1 Protein Structure

DCX

0
400
800
1200
1600
2000
2400 a.a.

Protein Preferred Names

Protein Names

retinitis pigmentosa 1-like 1 protein

doublecortin domain containing 4B

Related Diseases

Diseases

Alias

Occult Macular Dystrophy

OCMD	Omd
Dystrophy, Macular, Occult

Retinitis Pigmentosa 88

RP88	Retinitis Pigmentosa, Type 88

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Ulnar/Fibular Ray Defect And Brachydactyly

Ulnar/Fibula Ray Defect-Brachydactyly Syndrome

Morava-Mehes Syndrome

Retinitis Pigmentosa 1

RP1	Retinitis Pigmentosa-1
Retinitis Pigmentosa, Type 1

Retinitis

Cone-Rod Dystrophy 9

CORD9	Dystrophy, Cone-Rod, Type 9
Retinitis Pigmentosa 9

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Cone-Rod Dystrophy 20

CORD20

Dystrophy, Cone-Rod, Type 20

Retinitis Pigmentosa 74

RP74	Retinitis Pigmentosa, Type 74

Retinitis Pigmentosa 54

RP54	Retinitis Pigmentosa, Type 54

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

Scotoma

Enlarged Blind Spot	Scotoma Of Blind Spot Area
Blind Spot Area Scotoma	Enlarged Angioscotoma
Enlarged Paracaecal Scotoma	Generalized Visual Field Contraction Or Constriction
Sector Or Arcuate Visual Field Defects

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64	Retinal Dystrophy With Early Macular Involvement
CORD16	RP64

Stargardt Disease

Stargardt Disease 1	Stargardt Macular Dystrophy
Stargardt Disease-1	Juvenile Onset Macular Degeneration
Stargardt Macular Degeneration	Juvenile Macular Degeneration
Macular Dystrophy With Flecks, Type 1	Stgd
Fundus Flavimaculatus	Stargardt 1
Stargardts Disease

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Choroidal Dystrophy, Central Areolar, 1

Choroidal Sclerosis	Choroidal Dystrophy
Choroidal Dystrophy, Central Areolar	Cacd
Central Areolar Choroidal Dystrophy	CACD1
Choroidal Dystrophy, Central Areolar 1	Choroidal Dystrophy Central Areolar
Central Areolar Choroidal Sclerosis	Choroidal Degenerations
Areolar Atrophy Of The Macula	Partial Central Choroid Dystrophy
Degenerative Choroidopathy	Chorioretinal Degeneration
Hereditary Chorioretinal Degeneration	Hereditary Degeneration Of Choroid
Hereditary Choroidal Dystrophies	Generalised Choroidal Dystrophy
Hereditary Choroidopathy

Eye Degenerative Disease

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12139	RP1L1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RP1L1	VGNC	VGNC:56983
Mus musculus	RP1L1	MGD	MGI:2384303
Rattus norvegicus	RP1L1	RGD	RGD:1586886
Canis familiaris	RP1L1	VGNC	VGNC:45699
Felis catus	RP1L1	VGNC	VGNC:64725

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