rpgrip1l RPGRIP1 like [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: rpgrip1lprovided by ZNC
Official Full Name: RPGRIP1 likeprovided by ZNC
Primary source: ZFIN:ZDB-GENE-081104-81
See related: Ensembl:ENSDARG00000051754 AllianceGenome:ZFIN:ZDB-GENE-081104-81
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: si:ch1073-301i20.1
Summary: Acts upstream of or within embryonic pattern specification. Predicted to be located in cilium. Predicted to be active in photoreceptor connecting cilium. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 7; Meckel syndrome 5; anencephaly; retinitis pigmentosa 3; and vascular dementia. Orthologous to human RPGRIP1L (RPGRIP1 like). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 25

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	25	NC_007136.7 (36045072..36081733)
105	previous assembly	GRCz10 (GCF_000002035.5)	25	NC_007136.6 (35540133..35576794)

Chromosome 25 - NC_007136.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within embryonic pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinal rod cell development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
is_active_in photoreceptor connecting cilium	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein fantom

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001246660.2 → NP_001233589.2 protein fantom

Status: VALIDATED

Source sequence(s)

CU302251, CU928055

UniProtKB/TrEMBL

A0A8M1NZ98, E7F4E7, G1K2W7

Related

ENSDARP00000107198.3, ENSDART00000126326.5

Conserved Domains (5) summary

cd00030
Location:777 → 876

C2; C2 domain

COG4942
Location:21 → 316

EnvC; Septal ring factor EnvC, activator of murein hydrolases AmiA and AmiB [Cell cycle control, cell division, chromosome partitioning]

pfam00261
Location:204 → 438

Tropomyosin; Tropomyosin

pfam11618
Location:591 → 730

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam17082
Location:116 → 244

Spc29; Spindle Pole Component 29