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

Summary

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, Dec 2024]
Expression: Ubiquitous expression in fat (RPKM 26.2), endometrium (RPKM 21.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (53214099..53220634, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (53095535..53102070, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (53679771..53686306, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study performed yeast two-hybrid screening of the human proteome and found an uncharacterized protein encoded as open reading frame 123 in chromosome 1 (C1orf123) that can interact specifically with the heavy metal-associated domain of a copper chaperone for superoxide dismutase.
Title: Identification of a novel zinc-binding protein, C1orf123, as an interactor with a heavy metal-associated domain.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64517 (e-PCR)
- UniSTS:27149

D1S1890E (e-PCR)
- UniSTS:42356

SHGC-17418 (e-PCR)
- UniSTS:56561

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

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)

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)
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)
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

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