Aliases for CZIB Gene

Aliases for CZIB Gene

  • CXXC Motif Containing Zinc Binding Protein 2 3 4 5
  • UPF0587 Protein C1orf123 3 4
  • C1orf123 3 4
  • Chromosome 1 Open Reading Frame 123 2
  • FLJ20580 2
  • CZIB 5

External Ids for CZIB Gene

Previous HGNC Symbols for CZIB Gene

  • C1orf123

Summaries for CZIB Gene

GeneCards Summary for CZIB Gene

CZIB (CXXC Motif Containing Zinc Binding Protein) is a Protein Coding gene.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CZIB Gene

Genomics for CZIB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CZIB 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 CZIB on the GeneHancer Hub at the UCSC Golden Path

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

Genomic Locations for CZIB Gene

Latest Assembly
chr1:53,214,099-53,220,634
(GRCh38/hg38)
Size:
6,536 bases
Orientation:
Minus strand

Previous Assembly
chr1:53,679,771-53,686,306
(GRCh37/hg19 by Entrez Gene)
Size:
6,536 bases
Orientation:
Minus strand

chr1:53,679,771-53,686,289
(GRCh37/hg19 by Ensembl)
Size:
6,519 bases
Orientation:
Minus strand

Genomic View for CZIB Gene

Genes around CZIB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CZIB Gene

Proteins for CZIB Gene

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

    Protein Symbol:
    Q9NWV4-CZIB_HUMAN
    Recommended name:
    CXXC motif containing zinc binding protein
    Protein Accession:
    Q9NWV4

    Protein attributes for CZIB Gene

    Size:
    160 amino acids
    Molecular mass:
    18048 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CZIB Gene

neXtProt entry for CZIB Gene

Post-translational modifications for CZIB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CZIB Gene

No data available for DME Specific Peptides for CZIB Gene

Domains & Families for CZIB Gene

Gene Families for CZIB Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CZIB Gene

Suggested Antigen Peptide Sequences for CZIB Gene

GenScript: Design optimal peptide antigens:
  • UPF0587 protein C1orf123 (CA123_HUMAN)
  • Chromosome 1 open reading frame 123, isoform CRA_a (D3DQ38_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NWV4

UniProtKB/Swiss-Prot:

CZIB_HUMAN :
  • The N-terminal and the C-terminal half of the protein have a very similar 3D-structure, suggesting they arose from duplication (PubMed:30280012). Requires a bound zinc ion for normal folding and solubility (PubMed:30260988).
  • Belongs to the UPF0587 family.
Domain:
  • The N-terminal and the C-terminal half of the protein have a very similar 3D-structure, suggesting they arose from duplication (PubMed:30280012). Requires a bound zinc ion for normal folding and solubility (PubMed:30260988).
Family:
  • Belongs to the UPF0587 family.
genes like me logo Genes that share domains with CZIB: view

Function for CZIB Gene

Phenotypes From GWAS Catalog for CZIB Gene

Gene Ontology (GO) - Molecular Function for CZIB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 30260988
GO:0008270 zinc ion binding IBA,IDA 30260988
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CZIB: view
genes like me logo Genes that share phenotypes with CZIB: view

Inhibitory RNAs for research

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

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

Localization for CZIB 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 CZIB gene
Compartment Confidence
cytosol 3
extracellular 2
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitotic spindle (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CZIB Gene

Pathways & Interactions for CZIB Gene

PathCards logo

SuperPathways for CZIB Gene

No Data Available

Gene Ontology (GO) - Biological Process for CZIB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CZIB: view

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

Drugs & Compounds for CZIB Gene

No Compound Related Data Available

Transcripts for CZIB Gene

mRNA/cDNA for CZIB Gene

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

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for CZIB Gene

GeneLoc Exon Structure for
CZIB

Expression for CZIB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

SOURCE GeneReport for Unigene cluster for CZIB Gene:

Hs.525391

Evidence on tissue expression from TISSUES for CZIB Gene

  • Nervous system(4.7)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with CZIB: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CZIB Gene

Orthologs for CZIB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CZIB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1H1orf123 29
  • 100 (n)
-- 30
  • 100 (a)
OneToMany
-- 30
  • 99 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia C3H1orf123 29 30
  • 91.67 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia 0610037L13Rik 29 30
  • 91.56 (n)
OneToOne
Czib 16
Dog
(Canis familiaris)
Mammalia C5H1orf123 29
  • 91.25 (n)
C1orf123 30
  • 75 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1559786 29
  • 90.21 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia C1orf123 30
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C1orf123 30
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C1orf123 30
  • 84 (a)
OneToOne
C8H1ORF123 29
  • 79.58 (n)
Lizard
(Anolis carolinensis)
Reptilia C1orf123 30
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100497300 29
  • 75 (n)
Zebrafish
(Danio rerio)
Actinopterygii C2H1orf123 30
  • 82 (a)
OneToOne
si:ch211-284b7.3 29
  • 74.79 (n)
Dr.23495 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10583 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG4646 29 30
  • 55.49 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003919 29
  • 54.09 (n)
Worm
(Caenorhabditis elegans)
Secernentea F46B6.12 29 30
  • 55.27 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10153g 29
  • 46 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL238W 29
  • 43.61 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YCR090C 29
  • 43.01 (n)
-- 32
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G32930 29
  • 50.85 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0565600 29
  • 52.69 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08505 29
  • 51.9 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2D10.03c 29
  • 49.54 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 48 (a)
OneToOne
Species where no ortholog for CZIB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CZIB Gene

ENSEMBL:
Gene Tree for CZIB (if available)
TreeFam:
Gene Tree for CZIB (if available)
Alliance of Genome Resources:
Additional Orthologs for CZIB

Paralogs for CZIB Gene

Pseudogenes.org Pseudogenes for CZIB Gene

genes like me logo Genes that share paralogs with CZIB: view

No data available for Paralogs for CZIB Gene

Variants for CZIB Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1056438 Benign: Carnitine palmitoyltransferase II deficiency 53,214,206(-) T/C
NM_017887.3(CZIB):c.*453A>G
THREE_PRIME_UTR
rs14829 Likely Benign: Carnitine palmitoyltransferase II deficiency 53,214,202(-) G/T
NM_017887.3(CZIB):c.*457C>A
THREE_PRIME_UTR
rs886046411 Uncertain Significance: Carnitine palmitoyltransferase II deficiency 53,214,194(-) T/TGAA
NM_017887.3(CZIB):c.*462_*464dup
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CZIB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2422213 CNV duplication 17116639
nsv1001535 CNV gain 25217958
nsv829871 CNV loss 17160897

Variation tolerance for CZIB Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CZIB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CZIB
Leiden Open Variation Database (LOVD)
CZIB

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

Disorders for CZIB Gene

Additional Disease Information for CZIB

No disorders were found for CZIB Gene.

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

Publications for CZIB Gene

  1. Identification of a novel zinc-binding protein, C1orf123, as an interactor with a heavy metal-associated domain. (PMID: 30260988) Furukawa Y … Shiro Y (PloS one 2018) 2 3 4
  2. Crystal structure and functional analysis of human C1ORF123. (PMID: 30280012) A Rahaman SN … Ng CL (PeerJ 2018) 2 3 4
  3. Cloning, expression, purification, crystallization and X-ray crystallographic analysis of recombinant human C1ORF123 protein. (PMID: 26919524) Rahaman SN … Ng CL (Acta crystallographica. Section F, Structural biology communications 2016) 2 3 4
  4. Integrated genomics and proteomics of the Torpedo californica electric organ: concordance with the mammalian neuromuscular junction. (PMID: 21798097) Mate SE … Hoffman EP (Skeletal muscle 2011) 2 3
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for CZIB Gene

Sources for CZIB Gene