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    CZIB CXXC motif containing zinc binding protein [ Homo sapiens (human) ]

    Gene ID: 54987, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CZIBprovided by HGNC
    Official Full Name
    CXXC motif containing zinc binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:26059
    See related
    Ensembl:ENSG00000162384 AllianceGenome:HGNC:26059
    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
    C1orf123
    Summary
    Enables zinc ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 26.2), endometrium (RPKM 21.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    1p32.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (53214099..53220634, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (53095535..53102070, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53679771..53686306, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 1 member 7 Neighboring gene uncharacterized LOC105379783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53580852-53581834 Neighboring gene VISTA enhancer hs2585 Neighboring gene uncharacterized LOC105378724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 902 Neighboring gene MPRA-validated peak232 silencer Neighboring gene carnitine palmitoyltransferase 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:53685707-53686208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 904 Neighboring gene carnitine palmitoyltransferase 2 Neighboring gene CZIB divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:53703843-53704484 Neighboring gene mago homolog, exon junction complex subunit Neighboring gene MAGOH divergent transcript Neighboring gene LDL receptor related protein 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Cloning, expression, purification, crystallization and X-ray crystallographic analysis of recombinant human C1ORF123 protein. Rahaman SN, et al. Acta Crystallogr F Struct Biol Commun, 2016 Mar. PMID 26919524, Free PMC Article
    2. Integrated genomics and proteomics of the Torpedo californica electric organ: concordance with the mammalian neuromuscular junction. Mate SE, et al. Skelet Muscle, 2011 May 4. PMID 21798097, Free PMC Article
    3. Identification of a novel zinc-binding protein, C1orf123, as an interactor with a heavy metal-associated domain. Furukawa Y, et al. PLoS One, 2018. PMID 30260988, Free PMC Article
    4. Crystal structure and functional analysis of human C1ORF123. A Rahaman SN, et al. PeerJ, 2018. PMID 30280012, Free PMC Article
    5. Agrin has a pathological role in the progression of oral cancer. Rivera C, et al. Br J Cancer, 2018 Jun. PMID 29872149, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MAGOH

    Homology

    Clone Names

    • FLJ20580

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    CXXC motif containing zinc binding protein
    Names
    UPF0587 protein C1orf123

    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_001304759.2 → NP_001291688.1  CXXC motif containing zinc binding protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK000587, BC010908, BI603716, DA305789
      UniProtKB/Swiss-Prot
      Q9NWV4
      Conserved Domains (1) summary
      pfam05907
      Location:6 → 138
      DUF866; Eukaryotic protein of unknown function (DUF866)

    2. NM_001304760.2 → NP_001291689.1  CXXC motif containing zinc binding protein isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' end compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK000587, BC010908, BE889129, DA305789
      UniProtKB/Swiss-Prot
      Q9NWV4
      Conserved Domains (1) summary
      pfam05907
      Location:3 → 110
      DUF866; Eukaryotic protein of unknown function (DUF866)

    3. NM_017887.3 → NP_060357.1  CXXC motif containing zinc binding protein isoform 1

      See identical proteins and their annotated locations for NP_060357.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK000587, BC010908, DA305789
      Consensus CDS
      CCDS576.1
      UniProtKB/Swiss-Prot
      Q9NWV4
      Related
      ENSP00000294360.4, ENST00000294360.5
      Conserved Domains (1) summary
      pfam05907
      Location:6 → 157
      DUF866; Eukaryotic protein of unknown function (DUF866)

    RNA

    1. NR_130897.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks the 3' and middle exons and retains intronic sequence at its 3' end compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL606760, DA305789, DA394291

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      53214099..53220634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      53095535..53102070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWV4.1 GenPept UniProtKB/Swiss-Prot:Q9NWV4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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