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

Gene ID: 54680, updated on 23-Nov-2021

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
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Genomic context

See ZNHIT6 in Genome Data Viewer
Location:
1p22.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (85649417..85708458, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (86115100..86174116, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3870 Neighboring gene uncharacterized LOC107985057 Neighboring gene uncharacterized LOC112268231 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
enables ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables TFIID-class transcription factor complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in box C/D snoRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in box C/D snoRNP assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in 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 
involved_in protein complex oligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in snoRNA localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in snoRNA localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of pre-snoRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of 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)

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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_001170670.2NP_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 Updated Annotation Release 109.20211119

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

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