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    ROGDI rogdi homolog [ Homo sapiens (human) ]

    Gene ID: 79641, updated on 5-Aug-2018

    Summary

    Official Symbol
    ROGDIprovided by HGNC
    Official Full Name
    rogdi homologprovided by HGNC
    Primary source
    HGNC:HGNC:29478
    See related
    Ensembl:ENSG00000067836 MIM:614574; Vega:OTTHUMG00000129479
    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
    Also known as
    KTZS
    Summary
    This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in brain (RPKM 26.0), bone marrow (RPKM 23.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See ROGDI in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (4796962..4802950, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4846963..4852951, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chromosome 16 open reading frame 71 Neighboring gene zinc finger protein 500 Neighboring gene septin 12 Neighboring gene small integral membrane protein 22 Neighboring gene glyoxylate reductase 1 homolog Neighboring gene ubinuclein 1 Neighboring gene uncharacterized LOC105371064 Neighboring gene periplakin

    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 Jun 15 11:32:44 2016

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22386

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
     
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein rogdi homolog
    Names
    leucine zipper domain protein

    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.

    Genomic

    1. NG_032174.1 RefSeqGene

      Range
      5001..10989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_455

    mRNA and Protein(s)

    1. NM_024589.2NP_078865.1  protein rogdi homolog

      See identical proteins and their annotated locations for NP_078865.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AA740842, AC020663, BC012901
      Consensus CDS
      CCDS10523.1
      UniProtKB/Swiss-Prot
      Q9GZN7
      Related
      ENSP00000322832.5, OTTHUMP00000159854, ENST00000322048.11, OTTHUMT00000251643
      Conserved Domains (1) summary
      pfam10259
      Location:18276
      Rogdi_lz; Rogdi leucine zipper containing protein

    RNA

    1. NR_046480.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA740842, AC020663, AK098348
      Related
      ENST00000587843.5, OTTHUMT00000434563

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

      Range
      4796962..4802950 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006720948.4XP_006721011.1  protein rogdi homolog isoform X2

      Conserved Domains (1) summary
      pfam10259
      Location:1193
      Rogdi_lz; Rogdi leucine zipper containing protein
    2. XM_006720947.4XP_006721010.1  protein rogdi homolog isoform X1

      See identical proteins and their annotated locations for XP_006721010.1

      Conserved Domains (1) summary
      pfam10259
      Location:18283
      Rogdi_lz; Rogdi leucine zipper containing protein
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