Aliases for ZNHIT6 Gene

Aliases for ZNHIT6 Gene

  • Zinc Finger HIT-Type Containing 6 2 3 5
  • BCD1 2 3 4
  • Serologically Defined Breast Cancer Antigen NY-BR-75 3 4
  • Zinc Finger HIT Domain-Containing Protein 6 3 4
  • Box C/D SnoRNA Protein 1 3 4
  • Zinc Finger, HIT Type 6 2 3
  • C1orf181 3 4
  • NY-BR-75 2 3
  • Box C/D SnoRNA Essential 1 Homolog (S. Cerevisiae) 2
  • Chromosome 1 Open Reading Frame 181 2
  • Box C/D SnoRNA Essential 1 Homolog 3
  • FLJ20729 2
  • ZNHIT6 5

External Ids for ZNHIT6 Gene

Previous HGNC Symbols for ZNHIT6 Gene

  • C1orf181

Previous GeneCards Identifiers for ZNHIT6 Gene

  • GC01M085891
  • GC01M086118
  • GC01M084225

Summaries for ZNHIT6 Gene

GeneCards Summary for ZNHIT6 Gene

ZNHIT6 (Zinc Finger HIT-Type Containing 6) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include identical protein binding and enzyme binding.

UniProtKB/Swiss-Prot Summary for ZNHIT6 Gene

  • Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis.

Additional gene information for ZNHIT6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNHIT6 Gene

Genomics for ZNHIT6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNHIT6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNHIT6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNHIT6

Top Transcription factor binding sites by QIAGEN in the ZNHIT6 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • E47
  • E4BP4
  • FOXO1
  • FOXO1a
  • HEN1
  • HSF2
  • Tal-1

Genomic Locations for ZNHIT6 Gene

Genomic Locations for ZNHIT6 Gene
chr1:85,649,417-85,708,458
(GRCh38/hg38)
Size:
59,042 bases
Orientation:
Minus strand
chr1:86,115,106-86,174,116
(GRCh37/hg19)
Size:
59,011 bases
Orientation:
Minus strand

Genomic View for ZNHIT6 Gene

Genes around ZNHIT6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNHIT6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNHIT6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNHIT6 Gene

Proteins for ZNHIT6 Gene

  • Protein details for ZNHIT6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWK9-BCD1_HUMAN
    Recommended name:
    Box C/D snoRNA protein 1
    Protein Accession:
    Q9NWK9
    Secondary Accessions:
    • B2RBA1
    • B4DP13
    • D3DT20
    • Q9H278
    • Q9H3X3
    • Q9NWN0

    Protein attributes for ZNHIT6 Gene

    Size:
    470 amino acids
    Molecular mass:
    53918 Da
    Quaternary structure:
    • Interacts with FBL, SNU13, NOP58, NUFIP1, RUVBL1, RUVBL2 and TAF9 (PubMed:17636026). Interacts (via HIT-type zinc finger) with the RUVBL1/RUVBL2 complex in the presence of ADP (PubMed:28561026).
    SequenceCaution:
    • Sequence=AAG48263.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA91349.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ZNHIT6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNHIT6 Gene

Post-translational modifications for ZNHIT6 Gene

  • Ubiquitination at Lys229, Lys362, and Lys424
  • Modification sites at PhosphoSitePlus

Other Protein References for ZNHIT6 Gene

No data available for DME Specific Peptides for ZNHIT6 Gene

Domains & Families for ZNHIT6 Gene

Gene Families for ZNHIT6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ZNHIT6 Gene

InterPro:
Blocks:
  • HIT Zn-finger
ProtoNet:

Suggested Antigen Peptide Sequences for ZNHIT6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56607 (B4DP13_HUMAN)
  • Zinc finger HIT domain-containing protein 6 (BCD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NWK9

UniProtKB/Swiss-Prot:

BCD1_HUMAN :
  • Belongs to the BCD1 family.
Family:
  • Belongs to the BCD1 family.
genes like me logo Genes that share domains with ZNHIT6: view

Function for ZNHIT6 Gene

Molecular function for ZNHIT6 Gene

UniProtKB/Swiss-Prot Function:
Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis.

Phenotypes From GWAS Catalog for ZNHIT6 Gene

Gene Ontology (GO) - Molecular Function for ZNHIT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001094 TFIID-class transcription factor complex binding IPI 17636026
GO:0005515 protein binding IPI 17636026
GO:0019899 enzyme binding IPI 23382074
GO:0042802 identical protein binding IPI 17636026
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNHIT6: view
genes like me logo Genes that share phenotypes with ZNHIT6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNHIT6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNHIT6 Gene

Localization for ZNHIT6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNHIT6 gene
Compartment Confidence
extracellular 4
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZNHIT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0070062 extracellular exosome HDA 19056867
GO:0070761 pre-snoRNP complex IBA,IDA 17636026
genes like me logo Genes that share ontologies with ZNHIT6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ZNHIT6 Gene

Pathways & Interactions for ZNHIT6 Gene

PathCards logo

SuperPathways for ZNHIT6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNHIT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0000492 box C/D snoRNP assembly IMP 17636026
GO:0042254 ribosome biogenesis IEA --
GO:0048254 snoRNA localization IBA,IMP 17636026
GO:0051259 protein complex oligomerization IMP 17636026
genes like me logo Genes that share ontologies with ZNHIT6: view

No data available for Pathways by source and SIGNOR curated interactions for ZNHIT6 Gene

Drugs & Compounds for ZNHIT6 Gene

No Compound Related Data Available

Transcripts for ZNHIT6 Gene

mRNA/cDNA for ZNHIT6 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNHIT6

Alternative Splicing Database (ASD) splice patterns (SP) for ZNHIT6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2:

Relevant External Links for ZNHIT6 Gene

GeneLoc Exon Structure for
ZNHIT6

Expression for ZNHIT6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNHIT6 Gene

Protein differential expression in normal tissues from HIPED for ZNHIT6 Gene

This gene is overexpressed in Lung (43.3), Liver (13.9), and Fetal Liver (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNHIT6 Gene



Protein tissue co-expression partners for ZNHIT6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNHIT6

SOURCE GeneReport for Unigene cluster for ZNHIT6 Gene:

Hs.5111

Evidence on tissue expression from TISSUES for ZNHIT6 Gene

  • Liver(4.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with ZNHIT6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNHIT6 Gene

Orthologs for ZNHIT6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ZNHIT6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNHIT6 30 31
  • 99.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZNHIT6 30 31
  • 86.02 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNHIT6 30 31
  • 84.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Znhit6 30 17 31
  • 79.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Znhit6 30
  • 77.95 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ZNHIT6 31
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZNHIT6 30 31
  • 68.87 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZNHIT6 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia znhit6 30
  • 64.8 (n)
Str.6177 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25224 30
Zebrafish
(Danio rerio)
Actinopterygii ZNHIT6 31
  • 33 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004678 30
  • 50 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1463 30 31
  • 44.35 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea zhit-3 31
  • 16 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BCD1 31 33
  • 18 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.448 31
  • 31 (a)
OneToMany
-- 31
  • 27 (a)
OneToMany
Species where no ortholog for ZNHIT6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ZNHIT6 Gene

ENSEMBL:
Gene Tree for ZNHIT6 (if available)
TreeFam:
Gene Tree for ZNHIT6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNHIT6: view image

Paralogs for ZNHIT6 Gene

No data available for Paralogs for ZNHIT6 Gene

Variants for ZNHIT6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNHIT6 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
VAR_035721 A colorectal cancer sample p.Leu455His
rs17399721 - p.Gly9Arg

Additional dbSNP identifiers (rs#s) for ZNHIT6 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNHIT6 Gene

Variant ID Type Subtype PubMed ID
nsv506942 OTHER sequence alteration 20534489
nsv509369 CNV insertion 20534489

Variation tolerance for ZNHIT6 Gene

Residual Variation Intolerance Score: 63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNHIT6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNHIT6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNHIT6 Gene

Disorders for ZNHIT6 Gene

Additional Disease Information for ZNHIT6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for ZNHIT6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZNHIT6 Gene

Publications for ZNHIT6 Gene

  1. Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression. (PMID: 12747765) Scanlan MJ … Old LJ (Cancer immunity 2001) 2 3 4
  2. R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein. (PMID: 28561026) Cloutier P … Coulombe B (Nature communications 2017) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. A dynamic scaffold of pre-snoRNP factors facilitates human box C/D snoRNP assembly. (PMID: 17636026) McKeegan KS … Watkins NJ (Molecular and cellular biology 2007) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for ZNHIT6 Gene

Sources for ZNHIT6 Gene