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    RTBDN retbindin [ Homo sapiens (human) ]

    Gene ID: 83546, updated on 11-Jun-2021

    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
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    Genomic context

    See RTBDN in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12825482..12835428, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12936296..12946242, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated RNASEH2A regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element Neighboring gene thrombospondin type 1 domain containing 8 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

    Phenotypes

    Associated conditions

    Description Tests
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    GeneReviews: Not available

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

    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)

    1. NM_001080997.3NP_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
      Q9BSG5
      Related
      ENSP00000416375.1, ENST00000458671.6
      Conserved Domains (1) summary
      pfam03024
      Location:29183
      Folate_rec; Folate receptor family
    2. NM_001270440.2NP_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, ENST00000674343.2
      Conserved Domains (1) summary
      pfam03024
      Location:29183
      Folate_rec; Folate receptor family
    4. NM_001270442.2NP_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/Swiss-Prot
      Q9BSG5
      Conserved Domains (1) summary
      pfam03024
      Location:35189
      Folate_rec; Folate receptor family
    5. NM_001270443.2NP_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
      Q9BSG5
      Related
      ENSP00000376925.3, ENST00000393233.6
      Conserved Domains (1) summary
      pfam03024
      Location:29183
      Folate_rec; Folate receptor family
    6. NM_001270444.2NP_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
      Q9BSG5
      Related
      ENSP00000464869.1, ENST00000586969.5
      Conserved Domains (1) summary
      pfam03024
      Location:29183
      Folate_rec; Folate receptor family
    7. NM_001270445.2NP_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/Swiss-Prot
      Q9BSG5
      Related
      ENSP00000466382.1, ENST00000589681.5
      Conserved Domains (1) summary
      pfam03024
      Location:29177
      Folate_rec; Folate receptor family
    8. NM_031429.3NP_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/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 Updated Annotation Release 109.20210514

    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
      12825482..12835428 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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