CUZD1 CUB and zona pellucida like domains 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CUZD1provided by HGNC
Official Full Name: CUB and zona pellucida like domains 1provided by HGNC
Primary source: HGNC:HGNC:17937
See related: Ensembl:ENSG00000138161 MIM:616644; AllianceGenome:HGNC:17937
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: ERG1; ERG-1; UO-44; ITMAP1
Summary: Predicted to be involved in trypsinogen activation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward pancreas (RPKM 310.9) See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (122832158..122845857, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (123707147..123720845, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (124591674..124605373, complement)

Chromosome 10 - NC_000010.11 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?

Association analysis of CUZD1 variants in European chronic pancreatitis patients.
Title: Association analysis of CUZD1 variants in European chronic pancreatitis patients.
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Title: Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Data suggest that overexpression of CUZD1, regulator of growth factor signaling pathways controlled by PRLR and STAT5, promotes tumorigenesis in mammary epithelial cells. (CUZD1 = CUB and zona pellucida-like domain-containing protein-1; PRLR = prolactin receptor; STAT5 = signal transducer and activator of transcription-5)
Title: Aberrantly high expression of the CUB and zona pellucida-like domain-containing protein 1 (CUZD1) in mammary epithelium leads to breast tumorigenesis.
This study describes the development of tools targeting CUZD1 protein, its tissue expression pattern and levels in several biological fluids. These new tools will facilitate future investigations aiming to delineate the role of CUZD1 in physiology and pathobiology.
Title: Generation of monoclonal antibodies and development of an immunofluorometric assay for the detection of CUZD1 in tissues and biological fluids.
Totals of 12.4% and 20.8% of Crohn's disease patients were positive for IgA/IgG type of anti-GP2 and anti-CUZD1, respectively. Positivity for anti-pancreatic autoantibodies predicted a faster progression towards complicated disease course.
Title: Rediscovery of the Anti-Pancreatic Antibodies and Evaluation of their Prognostic Value in a Prospective Clinical Cohort of Crohn's Patients: The Importance of Specific Target Antigens [GP2 and CUZD1].
CUZD1 appears to be one of the relatively few biomarkers that serve as both cancer biomarker and autoantigen of autoantibodies in an autoimmune disease unrelated to cancerous organs. (Review)
Title: CUZD1 and anti-CUZD1 antibodies as markers of cancer and inflammatory bowel diseases.
CUZD1 appears to be a highly promising novel serum biomarker for ovarian cancer diagnosis.
Title: CUB and zona pellucida-like domain-containing protein 1 (CUZD1): a novel serological biomarker for ovarian cancer.
human UO-44 gene expression may prove to be valuable pretreatment targets for antitumor therapy
Title: Silencing expression of UO-44 (CUZD1) using small interfering RNA sensitizes human ovarian cancer cells to cisplatin in vitro.

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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

NoName (e-PCR)
- UniSTS:481925

SHGC-57260 (e-PCR)
- UniSTS:83374

Readthrough FAM24B-CUZD1

Readthrough gene: FAM24B-CUZD1, Included gene: FAM24B

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in trypsinogen activation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in zymogen granule membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: CUB and zona pellucida-like domain-containing protein 1

Names: CUB and ZP domain-containing protein 1; estrogen regulated gene 1; transmembrane protein UO-44

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_022034.6 → NP_071317.2 CUB and zona pellucida-like domain-containing protein 1 precursor

See identical proteins and their annotated locations for NP_071317.2

Status: VALIDATED

Description

Transcript Variant: This variant (1), also known as UO-44D, represents the longer transcript and encodes the supported protein.

Source sequence(s)

AY260047

Consensus CDS

CCDS7631.1

UniProtKB/Swiss-Prot

A8K080, B2RN93, D3DRE5, Q7Z660, Q7Z661, Q86SG1, Q86UP5, Q86UP6, Q9HAR7

UniProtKB/TrEMBL

B4DUY8

Related

ENSP00000376540.1, ENST00000392790.6

Conserved Domains (3) summary

smart00042
Location:53 → 143

CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein

cd00041
Location:154 → 264

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00100
Location:277 → 517

Zona_pellucida; Zona pellucida-like domain

RNA

NR_037912.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2), also known as UO-44C, lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AY260049

Related

ENST00000368901.5