Rtbdn retbindin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rtbdnprovided by MGI
Official Full Name: retbindinprovided by MGI
Primary source: MGI:MGI:2443686
See related: Ensembl:ENSMUSG00000048617 AllianceGenome:MGI:2443686
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rtbnd; A330096I21Rik
Summary: Enables riboflavin binding activity. Located in external side of plasma membrane and interphotoreceptor matrix. Is expressed in central nervous system; liver; metanephros; and retina nuclear layer. Orthologous to human RTBDN (retbindin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E18 (RPKM 2.5), CNS E14 (RPKM 1.8) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C3; 8 41.37 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (85672880..85683235)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (84946991..84956606)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Retbindin mediates light-damage in mouse retina while its absence leads to premature retinal aging.
Title: Retbindin mediates light-damage in mouse retina while its absence leads to premature retinal aging.
Absence of retbindin blocks glycolytic flux, disrupts metabolic homeostasis, and leads to photoreceptor degeneration.
Title: Absence of retbindin blocks glycolytic flux, disrupts metabolic homeostasis, and leads to photoreceptor degeneration.
Retbindin ablation causes a retinal phenotype characterized by time- and dose-dependent declines in rod and cone photoreceptor functions as early as 120 days of age. Whereas minor retinal ultrastructural defects were observed at all ages examined, a significant decline occurred in photoreceptor nuclei at 240 days of age ( approximately 36.8% rods and approximately 19.9% cones).
Title: Ablation of the riboflavin-binding protein retbindin reduces flavin levels and leads to progressive and dose-dependent degeneration of rods and cones.
Data suggest Retbindin as a possible flavin binding protein in the neural retina.
Title: The Potential Role of Flavins and Retbindin in Retinal Function and Homeostasis.
retbindin is an excellent candidate for binding retinal flavins and possibly participating in their transport from the extracellular space to the photoreceptors.
Title: Retbindin is an extracellular riboflavin-binding protein found at the photoreceptor/retinal pigment epithelium interface.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables riboflavin binding	IBA Inferred from Biological aspect of Ancestor more info
enables riboflavin binding	IDA Inferred from Direct Assay more info	PubMed
enables riboflavin transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in interphotoreceptor matrix	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: retbindin

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_001357326.1 → NP_001344255.1 retbindin precursor

Status: VALIDATED

Source sequence(s)

AY527276, CD742502

Consensus CDS

CCDS22485.1

UniProtKB/Swiss-Prot

Q6T898, Q8QZY4

Related

ENSMUSP00000105362.3, ENSMUST00000109740.9

Conserved Domains (1) summary

pfam03024
Location:83 → 203

Folate_rec; Folate receptor family
NM_001357328.1 → NP_001344257.1 retbindin precursor

Status: VALIDATED

Source sequence(s)

AC161765, AC163703

Consensus CDS

CCDS22485.1

UniProtKB/Swiss-Prot

Q6T898, Q8QZY4

Conserved Domains (1) summary

pfam03024
Location:83 → 203

Folate_rec; Folate receptor family
NM_144929.3 → NP_659178.1 retbindin precursor

Status: VALIDATED

Source sequence(s)

AY527275, CD742502

Consensus CDS

CCDS22485.1

UniProtKB/Swiss-Prot

Q6T898, Q8QZY4

Related

ENSMUSP00000070558.8, ENSMUST00000067472.14

Conserved Domains (1) summary

pfam03024
Location:83 → 203

Folate_rec; Folate receptor family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

85672880..85683235

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036153960.1 → XP_036009853.1 retbindin isoform X1

UniProtKB/Swiss-Prot

Q6T898, Q8QZY4

Related

ENSMUSP00000113982.2, ENSMUST00000121880.8

Conserved Domains (1) summary

pfam03024
Location:83 → 203

Folate_rec; Folate receptor family