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RTBDN retbindin [ Homo sapiens (human) ]

Gene ID: 83546, updated on 1-Aug-2020

Summary

Official Symbol
RTBDNprovided by HGNC
Official Full Name
retbindinprovided by HGNC
Primary source
HGNC:HGNC:30310
See related
Ensembl:ENSG00000132026 MIM:609553
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

Genomic context

See RTBDN in Genome Data Viewer
Location:
19p13.13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12825477..12835428, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12936291..12946242, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated RNASEH2A regulatory element Neighboring gene peroxiredoxin 2 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element Neighboring gene ribonuclease H2 subunit A Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element Neighboring gene uncharacterized LOC105372281 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element Neighboring gene microtubule associated serine/threonine kinase 1 Neighboring gene CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element Neighboring gene microRNA 6794

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36353

Gene Ontology Provided by GOA

Function Evidence Code Pubs
riboflavin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
riboflavin transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
riboflavin transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
anchored component of external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interphotoreceptor matrix IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001080997.2NP_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)
    AY028917, BM708463, BU689643
    Consensus CDS
    CCDS45994.1
    UniProtKB/Swiss-Prot
    Q9BSG5
    Related
    ENSP00000416375.1, ENST00000458671.6
    Conserved Domains (1) summary
    pfam03024
    Location:29183
    Folate_rec; Folate receptor family
  2. NM_001270440.1NP_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, Q8N210
    Related
    ENSP00000468697.1, ENST00000589272.5
    Conserved Domains (2) summary
    pfam03024
    Location:61186
    Folate_rec; Folate receptor family
    pfam13900
    Location:186205
    GVQW; Putative domain of unknown function
  3. NM_001270441.2NP_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
    CCDS59355.1
    Related
    ENSP00000501410.1, ENST00000674343.1
    Conserved Domains (1) summary
    pfam03024
    Location:29183
    Folate_rec; Folate receptor family
  4. NM_001270442.1NP_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, BG471112, BU689643
    UniProtKB/Swiss-Prot
    Q9BSG5
    Conserved Domains (1) summary
    pfam03024
    Location:35189
    Folate_rec; Folate receptor family
  5. NM_001270443.1NP_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)
    BM688127, BU689643, EL946853
    Consensus CDS
    CCDS45994.1
    UniProtKB/Swiss-Prot
    Q9BSG5
    Related
    ENSP00000376925.3, ENST00000393233.6
    Conserved Domains (1) summary
    pfam03024
    Location:29183
    Folate_rec; Folate receptor family
  6. NM_001270444.1NP_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, BM688006, BU689643, EL946853
    Consensus CDS
    CCDS45994.1
    UniProtKB/Swiss-Prot
    Q9BSG5
    Related
    ENSP00000464869.1, ENST00000586969.5
    Conserved Domains (1) summary
    pfam03024
    Location:29183
    Folate_rec; Folate receptor family
  7. NM_001270445.1NP_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, BQ639040, BU689643, EL946853
    UniProtKB/Swiss-Prot
    Q9BSG5
    Related
    ENSP00000466382.1, ENST00000589681.5
    Conserved Domains (1) summary
    pfam03024
    Location:29177
    Folate_rec; Folate receptor family
  8. NM_031429.2NP_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, BU689643, DB106146
    Consensus CDS
    CCDS12283.1
    UniProtKB/Swiss-Prot
    Q9BSG5
    Related
    ENSP00000326253.4, ENST00000322912.9
    Conserved Domains (1) summary
    pfam03024
    Location:61215
    Folate_rec; Folate receptor family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    12825477..12835428 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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