This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012] See more...

Aliases for ZER1 Gene

Aliases for ZER1 Gene

  • Zyg-11 Related Cell Cycle Regulator 2 3 5
  • ZYG 2 3 4
  • Zyg-11 Homolog B-Like Protein 3 4
  • Protein Zer-1 Homolog 3 4
  • Zyg11b-Like Protein 3 4
  • C9orf60 3 4
  • ZYG11BL 3 4
  • Hzyg 2 4
  • Chromosome 9 Open Reading Frame 60 2
  • Zyg-11 Homolog B (C. Elegans)-Like 2
  • Zer-1 Homolog (C. Elegans) 2
  • Zer-1 Homolog 3
  • ZYG Homolog 3
  • ZER1 5

External Ids for ZER1 Gene

Previous HGNC Symbols for ZER1 Gene

  • C9orf60
  • ZYG11BL

Previous GeneCards Identifiers for ZER1 Gene

  • GC09M130532
  • GC09M131492
  • GC09M101101

Summaries for ZER1 Gene

Entrez Gene Summary for ZER1 Gene

  • This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]

GeneCards Summary for ZER1 Gene

ZER1 (Zyg-11 Related Cell Cycle Regulator) is a Protein Coding gene. Diseases associated with ZER1 include De Quervain Disease and Photokeratitis. Gene Ontology (GO) annotations related to this gene include binding and ubiquitin-protein transferase activity. An important paralog of this gene is ZYG11B.

UniProtKB/Swiss-Prot Summary for ZER1 Gene

  • Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC (PubMed:17304241, PubMed:31273098). Acts redudantly with ZYG11B to target substrates bearing N-terminal glycine degrons for proteasomal degradation (PubMed:33093214). Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation (PubMed:31273098).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZER1 Gene

Genomics for ZER1 Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around ZER1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZER1

Top Transcription factor binding sites by QIAGEN in the ZER1 gene promoter:
  • CBF-A
  • CBF-B
  • CP1A
  • E47
  • HSF2
  • NF-Y
  • NF-YA
  • NF-YB
  • Tal-1beta
  • YY1

Genomic Locations for ZER1 Gene

Latest Assembly
chr9:128,729,786-128,772,486
(GRCh38/hg38)
Size:
42,701 bases
Orientation:
Minus strand

Previous Assembly
chr9:131,492,065-131,534,765
(GRCh37/hg19 by Entrez Gene)
Size:
42,701 bases
Orientation:
Minus strand

chr9:131,492,065-131,534,693
(GRCh37/hg19 by Ensembl)
Size:
42,629 bases
Orientation:
Minus strand

Genomic View for ZER1 Gene

Genes around ZER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZER1 Gene

Proteins for ZER1 Gene

  • Protein details for ZER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z7L7-ZER1_HUMAN
    Recommended name:
    Protein zer-1 homolog
    Protein Accession:
    Q7Z7L7
    Secondary Accessions:
    • O00156
    • Q5T272
    • Q5T273

    Protein attributes for ZER1 Gene

    Size:
    766 amino acids
    Molecular mass:
    88169 Da
    Quaternary structure:
    • Interacts with the ELOC-ELOB/Elongin BC complex. Part of an E3 ubiquitin ligase complex including ZER1, CUL2 and Elongin BC.

neXtProt entry for ZER1 Gene

Post-translational modifications for ZER1 Gene

  • Ubiquitination at Lys31, Lys119, and Lys323
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZER1 Gene

Domains & Families for ZER1 Gene

Gene Families for ZER1 Gene

Protein Domains for ZER1 Gene

InterPro:
Blocks:
  • Armadillo repeat

Suggested Antigen Peptide Sequences for ZER1 Gene

GenScript: Design optimal peptide antigens:
  • ZER1 protein (Q05BR7_HUMAN)
  • Zyg-11 homolog B-like protein (ZER1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z7L7

UniProtKB/Swiss-Prot:

ZER1_HUMAN :
  • Belongs to the zyg-11 family.
Family:
  • Belongs to the zyg-11 family.
genes like me logo Genes that share domains with ZER1: view

Function for ZER1 Gene

Molecular function for ZER1 Gene

UniProtKB/Swiss-Prot Function:
Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC (PubMed:17304241, PubMed:31273098). Acts redudantly with ZYG11B to target substrates bearing N-terminal glycine degrons for proteasomal degradation (PubMed:33093214). Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation (PubMed:31273098).

Phenotypes From GWAS Catalog for ZER1 Gene

Gene Ontology (GO) - Molecular Function for ZER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ZER1: view
genes like me logo Genes that share phenotypes with ZER1: view

miRNA for ZER1 Gene

miRTarBase miRNAs that target ZER1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZER1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZER1 Gene

Localization for ZER1 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 ZER1 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
plasma membrane 1
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031462 Cul2-RING ubiquitin ligase complex IEA,IDA 17304241
genes like me logo Genes that share ontologies with ZER1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ZER1 Gene

Pathways & Interactions for ZER1 Gene

PathCards logo

SuperPathways for ZER1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins IMP 31273098
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 31273098
genes like me logo Genes that share ontologies with ZER1: view

No data available for Pathways by source and SIGNOR curated interactions for ZER1 Gene

Drugs & Compounds for ZER1 Gene

No Compound Related Data Available

Transcripts for ZER1 Gene

mRNA/cDNA for ZER1 Gene

7 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 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 ZER1

Alternative Splicing Database (ASD) splice patterns (SP) for ZER1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18
SP1:
SP2:
SP3:
SP4: - - -
SP5: - -
SP6: -

Relevant External Links for ZER1 Gene

GeneLoc Exon Structure for
ZER1

Expression for ZER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZER1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZER1 Gene

This gene is overexpressed in Frontal cortex (10.1) and Salivary gland (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZER1 Gene



Protein tissue co-expression partners for ZER1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZER1

SOURCE GeneReport for Unigene cluster for ZER1 Gene:

Hs.147950

mRNA Expression by UniProt/SwissProt for ZER1 Gene:

Q7Z7L7-ZER1_HUMAN
Tissue specificity: Expressed in testis, spermatocytes and spermatids (at protein level). Expressed in spermatocytes, spermatids, prostate, skeletal muscle, ovary, small intestine, heart, brain and pancreas.

Evidence on tissue expression from TISSUES for ZER1 Gene

  • Nervous system(4.2)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with ZER1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZER1 Gene

Orthologs for ZER1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZER1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZER1 29 30
  • 99.61 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZER1 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ZER1 29 30
  • 92.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZER1 29 30
  • 92.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zer1 29
  • 89.38 (n)
Mouse
(Mus musculus)
Mammalia Zer1 29 16 30
  • 89.25 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZER1 30
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZER1 29 30
  • 80.68 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zer1 29
  • 75.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69020 29
Zebrafish
(Danio rerio)
Actinopterygii zer1 29 30
  • 70.38 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6570 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG12084 29 30
  • 52.07 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005961 29
  • 51.16 (n)
Worm
(Caenorhabditis elegans)
Secernentea zer-1 29 30
  • 48.11 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 29 (a)
OneToOne
Species where no ortholog for ZER1 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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 ZER1 Gene

ENSEMBL:
Gene Tree for ZER1 (if available)
TreeFam:
Gene Tree for ZER1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZER1: view image
Alliance of Genome Resources:
Additional Orthologs for ZER1

Paralogs for ZER1 Gene

Paralogs for ZER1 Gene

genes like me logo Genes that share paralogs with ZER1: view

Variants for ZER1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZER1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs13299702 -- p.Thr539Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZER1 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 ZER1 Gene

Variant ID Type Subtype PubMed ID
dgv1510e214 CNV loss 21293372
esv3621816 CNV gain 21293372
nsv1139368 CNV deletion 24896259
nsv615411 CNV loss 21841781
nsv615412 CNV loss 21841781
nsv951777 CNV deletion 24416366

Variation tolerance for ZER1 Gene

Residual Variation Intolerance Score: 14.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZER1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZER1
Leiden Open Variation Database (LOVD)
ZER1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZER1 Gene

Disorders for ZER1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZER1 Gene - From: COP

Disorder Aliases PubMed IDs
de quervain disease
  • radial styloid tenosynovitis
photokeratitis
lip cancer
  • malignant neoplasm of commissure of lip
- elite association - COSMIC cancer census association via MalaCards
Search ZER1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZER1

genes like me logo Genes that share disorders with ZER1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZER1 Gene

Publications for ZER1 Gene

  1. Meiotic human sperm cells express a leucine-rich homologue of Caenorhabditis elegans early embryogenesis gene, Zyg-11. (PMID: 11719588) Féral C … Guellaën G (Molecular human reproduction 2001) 2 3 4 22
  2. A glycine-specific N-degron pathway mediates the quality control of protein N-myristoylation. (PMID: 31273098) Timms RT … Elledge SJ (Science (New York, N.Y.) 2019) 3 4
  3. The Caenorhabditis elegans cell-cycle regulator ZYG-11 defines a conserved family of CUL-2 complex components. (PMID: 17304241) Vasudevan S … Kipreos ET (EMBO reports 2007) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ZER1 Gene

Sources for ZER1 Gene