Format

Send to:

Choose Destination
    • Showing Current items.

    ZNHIT6 zinc finger HIT-type containing 6 [ Homo sapiens (human) ]

    Gene ID: 54680, updated on 17-Jun-2019

    Summary

    Official Symbol
    ZNHIT6provided by HGNC
    Official Full Name
    zinc finger HIT-type containing 6provided by HGNC
    Primary source
    HGNC:HGNC:26089
    See related
    Ensembl:ENSG00000117174
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCD1; C1orf181; NY-BR-75
    Expression
    Ubiquitous expression in lymph node (RPKM 2.7), endometrium (RPKM 2.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See ZNHIT6 in Genome Data Viewer
    Location:
    1p22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (85649417..85708458, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (86115106..86174116, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985057 Neighboring gene uncharacterized LOC112268231 Neighboring gene cellular communication network factor 1 Neighboring gene uncharacterized LOC105378823 Neighboring gene collagen type XXIV alpha 1 chain Neighboring gene RNA, 5S ribosomal pseudogene 51

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ12602, FLJ20729, FLJ20760, MGC131963

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    TFIID-class transcription factor complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    box C/D snoRNP assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    box C/D snoRNP assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein complex oligomerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    snoRNA localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    snoRNA localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    pre-snoRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    pre-snoRNP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    box C/D snoRNA protein 1
    Names
    box C/D snoRNA essential 1 homolog
    serologically defined breast cancer antigen NY-BR-75
    zinc finger HIT domain-containing protein 6
    zinc finger, HIT type 6

    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_001170670.1NP_001164141.1  box C/D snoRNA protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001164141.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC092807, AK298149, BQ777734
      Consensus CDS
      CCDS53338.1
      UniProtKB/Swiss-Prot
      Q9NWK9
      Related
      ENSP00000414344.2, ENST00000431532.6
      Conserved Domains (1) summary
      pfam04438
      Location:178207
      zf-HIT; HIT zinc finger
    2. NM_017953.4NP_060423.3  box C/D snoRNA protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060423.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC092807, BC026236, BQ777734, DB169943
      Consensus CDS
      CCDS707.1
      UniProtKB/Swiss-Prot
      Q9NWK9
      Related
      ENSP00000359606.3, ENST00000370574.4
      Conserved Domains (1) summary
      pfam04438
      Location:217246
      zf-HIT; HIT zinc finger

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      85649417..85708458 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447736.1XP_024303504.1  box C/D snoRNA protein 1 isoform X2

      Conserved Domains (1) summary
      pfam04438
      Location:217246
      zf-HIT; HIT zinc finger
    2. XM_011541614.3XP_011539916.1  box C/D snoRNA protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011539916.1

      Conserved Domains (1) summary
      pfam04438
      Location:217246
      zf-HIT; HIT zinc finger

    RNA

    1. XR_001737244.2 RNA Sequence

    2. XR_001737245.2 RNA Sequence

    Support Center