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    ZPLD1 zona pellucida like domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 131368, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZPLD1provided by HGNC
    Official Full Name
    zona pellucida like domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:27022
    See related
    Ensembl:ENSG00000170044 MIM:615915; AllianceGenome:HGNC:27022
    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
    Summary
    Predicted to act upstream of or within vestibular reflex. Predicted to be located in cytoplasmic vesicle membrane and extracellular region. Predicted to be active in cell surface and extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in gall bladder (RPKM 1.4), duodenum (RPKM 0.4) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZPLD1 in Genome Data Viewer
    Location:
    3q12.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (102385144..102479841)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (105100434..105195138)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (102153859..102198685)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929411 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:101913549-101914748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20188 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:102017651-102018850 Neighboring gene uncharacterized LOC107986105 Neighboring gene NANOG hESC enhancer GRCh37_chr3:102058061-102058569 Neighboring gene Sharpr-MPRA regulatory region 11515 Neighboring gene uncharacterized LOC105374016 Neighboring gene uncharacterized LOC107986106 Neighboring gene VISTA enhancer hs1469 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:102406508-102407028 Neighboring gene uncharacterized LOC105374017

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. Gianfrancesco F, et al. Neuroscience, 2008 Aug 13. PMID 18632209
    2. Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy. Kobayashi D, et al. Mol Pain, 2013 Jul 8. PMID 23834954, Free PMC Article
    3. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. Glessner JT, et al. Am J Hum Genet, 2010 Nov 12. PMID 20950786, Free PMC Article
    4. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. Sim X, et al. PLoS Genet, 2011 Apr. PMID 21490949, Free PMC Article
    5. Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. Velez Edwards DR, et al. Hum Genet, 2013 Mar. PMID 23192594, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. associations revealed between genetic polymorphisms located in the flanking region of the ARID1B genes and hypoesthesia
      Title: Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide study reveals copy number variants exclusive to childhood obesity cases.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    4. this protein may be part of the complex signaling pathway implicated in cerebral cavernous malformation formation
      Title: ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.
    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
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
    EBI GWAS Catalog
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in vestibular reflex IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zona pellucida-like domain-containing protein 1
    Names
    ZP domain-containing protein 1
    cupulin

    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_001329788.2 → NP_001316717.1  zona pellucida-like domain-containing protein 1 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC069529, AY090780, BC143817
      Consensus CDS
      CCDS87115.1
      UniProtKB/Swiss-Prot
      Q49AS1, Q8TCW7, Q8WU36
      Related
      ENSP00000418253.1, ENST00000466937.2
      Conserved Domains (2) summary
      smart00241
      Location:44 → 314
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:176 → 314
      Zona_pellucida; Zona pellucida-like domain

    2. NM_175056.2 → NP_778226.1  zona pellucida-like domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_778226.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AY090780
      Consensus CDS
      CCDS2947.1
      UniProtKB/Swiss-Prot
      Q8TCW7
      Related
      ENSP00000307801.1, ENST00000306176.5
      Conserved Domains (2) summary
      smart00241
      Location:60 → 330
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:192 → 330
      Zona_pellucida; Zona pellucida-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      102385144..102479841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005703.1 → XP_016861192.1  zona pellucida-like domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AS1, Q8TCW7, Q8WU36
      Related
      ENSP00000420265.1, ENST00000491959.5
      Conserved Domains (2) summary
      smart00241
      Location:44 → 314
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:176 → 314
      Zona_pellucida; Zona pellucida-like domain

    2. XM_017005704.1 → XP_016861193.1  zona pellucida-like domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AS1, Q8TCW7, Q8WU36
      Conserved Domains (2) summary
      smart00241
      Location:44 → 314
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:176 → 314
      Zona_pellucida; Zona pellucida-like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      105100434..105195138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345211.1 → XP_054201186.1  zona pellucida-like domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AS1, Q8TCW7, Q8WU36

    2. XM_054345212.1 → XP_054201187.1  zona pellucida-like domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AS1, Q8TCW7, Q8WU36
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TCW7.2 GenPept UniProtKB/Swiss-Prot:Q8TCW7

    Gene LinkOut

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

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