RTBDN retbindin [Homo sapiens (human)] - Gene

Summary

Official Symbol: RTBDNprovided by HGNC
Official Full Name: retbindinprovided by HGNC
Primary source: HGNC:HGNC:30310
See related: Ensembl:ENSG00000132026 MIM:609553; AllianceGenome:HGNC:30310
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
Summary: This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
Expression: Biased expression in brain (RPKM 1.6), adrenal (RPKM 0.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12825482..12835428, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (12949999..12959945, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (12936296..12946242, complement)

Chromosome 19 - NC_000019.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Retbindin is capable of flavin binding. This characteristic can protect photoreceptors from flavin-sensitized light damage. Human retbindin in the culture media of a riboflavin-sensitized transgenic mouse cone cell line protected it from a 1-hour light-box exposure at 12,000 lux.
Title: Retbindin Is Capable of Protecting Photoreceptors from Flavin-Sensitized Light-Mediated Cell Death In Vitro.
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.

Submit: New GeneRIF Correction

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G42185 (e-PCR)
- UniSTS:105103

D19S914 (e-PCR)
- UniSTS:80300

RH99147 (e-PCR)
- UniSTS:84159

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables riboflavin binding	IBA Inferred from Biological aspect of Ancestor more info
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

Process	Evidence Code	Pubs
involved_in riboflavin transport	IEA Inferred from Electronic Annotation 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 extracellular region	IEA Inferred from Electronic Annotation more info
located_in interphotoreceptor matrix	IEA Inferred from Electronic Annotation more info

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_001080997.3 → NP_001074466.1 retbindin isoform 1 precursor

See identical proteins and their annotated locations for NP_001074466.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform (1). Variants 1, 6 and 7 encode the same isoform.

Source sequence(s)

AC020934, AY028917, BM708463, BU689643

Consensus CDS

CCDS45994.1

UniProtKB/Swiss-Prot

F1T0I8, Q9BSG5, Q9BWT5

UniProtKB/TrEMBL

K7EIS2

Related

ENSP00000416375.1, ENST00000458671.6

Conserved Domains (1) summary

pfam03024
Location:29 → 183

Folate_rec; Folate receptor family
NM_001270440.2 → NP_001257369.1 retbindin isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the UTRs and coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (3) that is shorter and has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AK093672, BU689643, CB140693

Consensus CDS

CCDS59356.1

UniProtKB/TrEMBL

K7ESG0

Related

ENSP00000468697.1, ENST00000589272.5

Conserved Domains (2) summary

pfam03024
Location:61 → 186

Folate_rec; Folate receptor family

pfam13900
Location:186 → 205

GVQW; Putative domain of unknown function
NM_001270441.2 → NP_001257370.2 retbindin isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 4, 6 and 7 encode the same isoform (1).

Source sequence(s)

AC020934

Consensus CDS

CCDS45994.1

UniProtKB/Swiss-Prot

F1T0I8, Q9BSG5, Q9BWT5

UniProtKB/TrEMBL

K7EIS2

Related

ENSP00000501410.1, ENST00000674343.2

Conserved Domains (1) summary

pfam03024
Location:29 → 183

Folate_rec; Folate receptor family
NM_001270442.2 → NP_001257371.1 retbindin isoform 5 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is longer than isoform 1.

Source sequence(s)

AB593122, AC020934, BG471112, BU689643

UniProtKB/TrEMBL

K7EIS2

Conserved Domains (1) summary

pfam03024
Location:35 → 189

Folate_rec; Folate receptor family
NM_001270443.2 → NP_001257372.1 retbindin isoform 1 precursor

See identical proteins and their annotated locations for NP_001257372.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1, 6 and 7 encode the same isoform (1).

Source sequence(s)

AC020934, BM688127, BU689643, EL946853

Consensus CDS

CCDS45994.1

UniProtKB/Swiss-Prot

F1T0I8, Q9BSG5, Q9BWT5

UniProtKB/TrEMBL

K7EIS2

Related

ENSP00000376925.3, ENST00000393233.6

Conserved Domains (1) summary

pfam03024
Location:29 → 183

Folate_rec; Folate receptor family
NM_001270444.2 → NP_001257373.1 retbindin isoform 1 precursor

See identical proteins and their annotated locations for NP_001257373.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1, 6 and 7 encode the same isoform (1).

Source sequence(s)

AB593122, AC020934, BM688006, BU689643, EL946853

Consensus CDS

CCDS45994.1

UniProtKB/Swiss-Prot

F1T0I8, Q9BSG5, Q9BWT5

UniProtKB/TrEMBL

K7EIS2

Related

ENSP00000464869.1, ENST00000586969.5

Conserved Domains (1) summary

pfam03024
Location:29 → 183

Folate_rec; Folate receptor family
NM_001270445.2 → NP_001257374.1 retbindin isoform 6 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.

Source sequence(s)

AB593122, AC020934, BQ639040, BU689643, EL946853

UniProtKB/TrEMBL

K7EIS2

Related

ENSP00000466382.1, ENST00000589681.5

Conserved Domains (1) summary

pfam03024
Location:29 → 177

Folate_rec; Folate receptor family
NM_031429.3 → NP_113617.1 retbindin isoform 2

See identical proteins and their annotated locations for NP_113617.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.

Source sequence(s)

BC005063, DB106146

Consensus CDS

CCDS12283.1

UniProtKB/TrEMBL

K7EIS2

Related

ENSP00000326253.4, ENST00000322912.9

Conserved Domains (1) summary

pfam03024
Location:61 → 215

Folate_rec; Folate receptor family