RP1L1 RP1 like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RP1L1provided by HGNC
Official Full Name: RP1 like 1provided by HGNC
Primary source: HGNC:HGNC:15946
See related: Ensembl:ENSG00000183638 MIM:608581; AllianceGenome:HGNC:15946
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OCMD; RP88; DCDC4B
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8p23.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (10606349..10655143, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (9083816..9132787)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (10463859..10512653, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Research progress of RP1L1 gene in disease.
Title: Research progress of RP1L1 gene in disease.
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.
Title: Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.
RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration.
Title: RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration.
A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.
Title: A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.
Homozygous loss-of-function mutations in RP1L1 gene is associated with retinitis pigmentosa.
Title: Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.
Two recurrent RP1L1 variants are related to occult macular dystrophy in the Chinese population.
Title: Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.
Autosomal dominant occult macular dystrophy (OCMD) phenotype showed consistent clinical findings including classical microstructural changes on SD-OCT. An important hallmark of RP1L1-related OCMD is the dominant family history with reduced penetrance.
Title: Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
the presence of pathogenic RP1L1 variants is significantly associated with characteristic abnormalities of the photoreceptor layer in the macular region (e.g., blurring of the ellipsoid zone [EZ] and absence of the interdigitation zone
Title: Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy.
We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci.
Title: Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
A unique motif including six amino acids (1196-1201) downstream of the doublecortin domain could be a hot spot for RP1L1 pathogenic variants. The significant association of the morphologic phenotypes and genotypes indicates that there are two types of pathophysiology underlying the occult macular dysfunction syndrome
Title: Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Occult macular dystrophy MedGen: C3150833 OMIM: 613587 GeneReviews: Not available	not available
Retinitis pigmentosa 88 MedGen: C5394208 OMIM: 618826 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G42365 (e-PCR)
- UniSTS:94223

G42658 (e-PCR)
- UniSTS:94558

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in photoreceptor cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina development in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in photoreceptor connecting cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor outer segment	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: retinitis pigmentosa 1-like 1 protein

Names: doublecortin domain containing 4B; retinitis pigmentosa 1 like 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028035.1 RefSeqGene

Range

4965..53759

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_178857.6 → NP_849188.4 retinitis pigmentosa 1-like 1 protein

Status: REVIEWED

Source sequence(s)

AC104964, AC105001

Consensus CDS

CCDS43708.1

UniProtKB/Swiss-Prot

A6NKC6, Q86SQ1, Q8IWN7, Q8IWN8, Q8IWN9, Q8IWP0, Q8IWP1, Q8IWP2

UniProtKB/TrEMBL

A0AAG2UWS8

Related

ENSP00000371923.3, ENST00000382483.4

Conserved Domains (4) summary

cd01617
Location:34 → 111

DCX; Ubiquitin-like domain of DCX

cl00155
Location:152 → 226

UBQ; Ubiquitin-like proteins

cl27511
Location:2020 → 2260

Na_Ca_ex; Sodium/calcium exchanger protein

cl28033
Location:561 → 904

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region