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    ZER1 zyg-11 related cell cycle regulator [ Homo sapiens (human) ]

    Gene ID: 10444, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ZER1provided by HGNC
    Official Full Name
    zyg-11 related cell cycle regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:30960
    See related
    Ensembl:ENSG00000160445 MIM:617764; AllianceGenome:HGNC:30960
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZYG; C9orf60; ZYG11BL
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 20.9), testis (RPKM 20.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q34.11
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128729786..128772486, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140934550..140977266, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131492065..131534765, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131475223-131475724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131475725-131476224 Neighboring gene RNA, 7SL, cytoplasmic 560, pseudogene Neighboring gene protein kinase N3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131491015-131491846 Neighboring gene ZDHHC12 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131491847-131492678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131494472-131494972 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131494973-131495473 Neighboring gene zinc finger DHHC-type palmitoyltransferase 12 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124902282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131534571-131535297 Neighboring gene CRISPRi-validated cis-regulatory element chr9.3033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20352 Neighboring gene TBC1 domain family member 13 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131574071-131574244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131581177-131581742 Neighboring gene KYAT1-SPOUT1 readthrough Neighboring gene SPOUT domain containing methyltransferase 1 Neighboring gene endonuclease G

    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. Meiotic human sperm cells express a leucine-rich homologue of Caenorhabditis elegans early embryogenesis gene, Zyg-11. Féral C, et al. Mol Hum Reprod, 2001 Dec. PMID 11719588, Free PMC Article
    2. A glycine-specific N-degron pathway mediates the quality control of protein N-myristoylation. Timms RT, et al. Science, 2019 Jul 5. PMID 31273098, Free PMC Article
    3. Molecular basis for recognition of Gly/N-degrons by CRL2(ZYG11B) and CRL2(ZER1). Yan X, et al. Mol Cell, 2021 Aug 19. PMID 34214466
    4. The Caenorhabditis elegans cell-cycle regulator ZYG-11 defines a conserved family of CUL-2 complex components. Vasudevan S, et al. EMBO Rep, 2007 Mar. PMID 17304241, Free PMC Article
    5. Characterization of Cullin-box sequences that direct recruitment of Cul2-Rbx1 and Cul5-Rbx2 modules to Elongin BC-based ubiquitin ligases. Mahrour N, et al. J Biol Chem, 2008 Mar 21. PMID 18187417

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular basis for recognition of Gly/N-degrons by CRL2(ZYG11B) and CRL2(ZER1).
      Title: Molecular basis for recognition of Gly/N-degrons by CRL2(ZYG11B) and CRL2(ZER1).
    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

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    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

    Homology

    Clone Names

    • RP11-545E17.4

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein quality control for misfolded or incompletely synthesized proteins IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein zer-1 homolog
    Names
    ZYG homolog
    zer-1 homolog
    zyg-11 homolog B-like protein
    zyg11b-like protein

    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_001375954.1 → NP_001362883.1  protein zer-1 homolog isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL441992
      Consensus CDS
      CCDS6910.1
      UniProtKB/Swiss-Prot
      O00156, Q5T272, Q5T273, Q7Z7L7
      UniProtKB/TrEMBL
      B2RC26
      Conserved Domains (3) summary
      sd00033
      Location:281 → 324
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:82 → 104
      LRR_AMN1; leucine-rich repeat [structural motif]
      sd00043
      Location:562 → 600
      ARM; armadillo repeat [structural motif]

    2. NM_001375955.1 → NP_001362884.1  protein zer-1 homolog isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL441992
      Consensus CDS
      CCDS6910.1
      UniProtKB/Swiss-Prot
      O00156, Q5T272, Q5T273, Q7Z7L7
      UniProtKB/TrEMBL
      B2RC26
      Conserved Domains (3) summary
      sd00033
      Location:281 → 324
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:82 → 104
      LRR_AMN1; leucine-rich repeat [structural motif]
      sd00043
      Location:562 → 600
      ARM; armadillo repeat [structural motif]

    3. NM_001375956.1 → NP_001362885.1  protein zer-1 homolog isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL441992
      Consensus CDS
      CCDS6910.1
      UniProtKB/Swiss-Prot
      O00156, Q5T272, Q5T273, Q7Z7L7
      UniProtKB/TrEMBL
      B2RC26
      Conserved Domains (3) summary
      sd00033
      Location:281 → 324
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:82 → 104
      LRR_AMN1; leucine-rich repeat [structural motif]
      sd00043
      Location:562 → 600
      ARM; armadillo repeat [structural motif]

    4. NM_001375957.1 → NP_001362886.1  protein zer-1 homolog isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL441992
      UniProtKB/TrEMBL
      B2RC26
      Conserved Domains (3) summary
      sd00033
      Location:281 → 324
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:82 → 104
      LRR_AMN1; leucine-rich repeat [structural motif]
      sd00043
      Location:560 → 598
      ARM; armadillo repeat [structural motif]

    5. NM_001375958.1 → NP_001362887.1  protein zer-1 homolog isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL441992
      UniProtKB/TrEMBL
      B2RC26
      Conserved Domains (3) summary
      sd00033
      Location:281 → 324
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:82 → 104
      LRR_AMN1; leucine-rich repeat [structural motif]
      sd00043
      Location:560 → 598
      ARM; armadillo repeat [structural motif]

    6. NM_001375959.1 → NP_001362888.1  protein zer-1 homolog isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL441992
      UniProtKB/TrEMBL
      B2RC26
      Conserved Domains (2) summary
      sd00033
      Location:281 → 324
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:82 → 104
      LRR_AMN1; leucine-rich repeat [structural motif]

    7. NM_006336.4 → NP_006327.2  protein zer-1 homolog isoform 1

      See identical proteins and their annotated locations for NP_006327.2

      Status: REVIEWED

      Source sequence(s)
      AL441992
      Consensus CDS
      CCDS6910.1
      UniProtKB/Swiss-Prot
      O00156, Q5T272, Q5T273, Q7Z7L7
      UniProtKB/TrEMBL
      B2RC26
      Related
      ENSP00000291900.2, ENST00000291900.7
      Conserved Domains (3) summary
      sd00033
      Location:281 → 324
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:82 → 104
      LRR_AMN1; leucine-rich repeat [structural motif]
      sd00043
      Location:562 → 600
      ARM; armadillo repeat [structural motif]

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      128729786..128772486 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014188.2 → XP_016869677.1  protein zer-1 homolog isoform X1

      UniProtKB/TrEMBL
      B2RC26
      Conserved Domains (3) summary
      sd00033
      Location:281 → 324
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:82 → 104
      LRR_AMN1; leucine-rich repeat [structural motif]
      sd00043
      Location:560 → 598
      ARM; armadillo repeat [structural motif]

    2. XM_017014187.3 → XP_016869676.1  protein zer-1 homolog isoform X1

      UniProtKB/TrEMBL
      B2RC26
      Conserved Domains (3) summary
      sd00033
      Location:281 → 324
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:82 → 104
      LRR_AMN1; leucine-rich repeat [structural motif]
      sd00043
      Location:560 → 598
      ARM; armadillo repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140934550..140977266 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361708.1 → XP_054217683.1  protein zer-1 homolog isoform X1

    2. XM_054361707.1 → XP_054217682.1  protein zer-1 homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z7L7.1 GenPept UniProtKB/Swiss-Prot:Q7Z7L7

    Gene LinkOut

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

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