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Aliases for ZPLD1 Gene

Aliases for ZPLD1 Gene

  • Zona Pellucida Like Domain Containing 1 2 3 5
  • ZP Domain-Containing Protein 1 3 4
  • Cupulin 3 4
  • Zona Pellucida-Like Domain-Containing Protein 1 3

External Ids for ZPLD1 Gene

Previous GeneCards Identifiers for ZPLD1 Gene

  • GC03P103637
  • GC03P103303
  • GC03P101818
  • GC03P099524

Summaries for ZPLD1 Gene

GeneCards Summary for ZPLD1 Gene

ZPLD1 (Zona Pellucida Like Domain Containing 1) is a Protein Coding gene. Diseases associated with ZPLD1 include Cerebral Cavernous Malformations. An important paralog of this gene is TECTB.

UniProtKB/Swiss-Prot for ZPLD1 Gene

  • Glycoprotein which is a component of the gelatinous extracellular matrix in the cupulae of the vestibular organ.

Additional gene information for ZPLD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZPLD1 Gene

Genomics for ZPLD1 Gene

GeneHancer (GH) Regulatory Elements for ZPLD1 Gene

Promoters and enhancers for ZPLD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I101935 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -160.0 -160047 8.1 HDGF ATF1 PKNOX1 SMAD1 FEZF1 IRF4 ELK1 FOS ATF7 RUNX3 LINC02085 NFKBIZ ZPLD1 NXPE3 SENP7 ZBTB11-AS1 ZBTB11 GC03M101929
GH03I101901 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -196.5 -196487 2.3 ATF1 INSM2 SIN3A BATF BRCA1 ZEB1 ZNF335 ZNF366 ATF7 ETV6 NFKBIZ ZPLD1 NXPE3 GC03M101929 GC03P101864
GH03I101898 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -200.0 -200019 1.7 PKNOX1 BMI1 KLF5 IRF4 RFX5 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 NFKBIZ ZPLD1 ZBTB11-AS1 NXPE3 ZBTB11 GC03M101929 GC03P101864
GH03I102122 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 14.1 +25.3 25252 3 MAX CEBPG RAD21 RFX5 POLR2A HNF4G DEK NFE2L2 CHD2 TCF7L2 ZPLD1 GC03M102109 LOC101929411
GH03I102188 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +93.4 93405 8.1 PKNOX1 FOXA2 MAX FEZF1 BATF RAD21 ZNF121 NFE2 RXRA ELF1 ZPLD1 NFKBIZ GC03P102210 GC03P102209 PIR36108 LOC101929411
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZPLD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZPLD1 gene promoter:

Genomic Locations for ZPLD1 Gene

Genomic Locations for ZPLD1 Gene
380,598 bases
Plus strand

Genomic View for ZPLD1 Gene

Genes around ZPLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZPLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZPLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZPLD1 Gene

Proteins for ZPLD1 Gene

  • Protein details for ZPLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zona pellucida-like domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q49AS1
    • Q8WU36

    Protein attributes for ZPLD1 Gene

    415 amino acids
    Molecular mass:
    45530 Da
    Quaternary structure:
    No Data Available
    • Sequence=EAW79766.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ZPLD1 Gene


neXtProt entry for ZPLD1 Gene

Post-translational modifications for ZPLD1 Gene

  • Proteolytically cleaved before the transmembrane segment to yield the secreted form found in the extracellular matrix of the cupula.
  • Glycosylation at isoforms=2121 and isoforms=2164
  • Modification sites at PhosphoSitePlus

Other Protein References for ZPLD1 Gene

No data available for DME Specific Peptides for ZPLD1 Gene

Domains & Families for ZPLD1 Gene

Gene Families for ZPLD1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ZPLD1 Gene


Suggested Antigen Peptide Sequences for ZPLD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ZPLD1: view

No data available for UniProtKB/Swiss-Prot for ZPLD1 Gene

Function for ZPLD1 Gene

Molecular function for ZPLD1 Gene

UniProtKB/Swiss-Prot Function:
Glycoprotein which is a component of the gelatinous extracellular matrix in the cupulae of the vestibular organ.

Phenotypes From GWAS Catalog for ZPLD1 Gene

genes like me logo Genes that share phenotypes with ZPLD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ZPLD1

miRNA for ZPLD1 Gene

miRTarBase miRNAs that target ZPLD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZPLD1 Gene

Localization for ZPLD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZPLD1 Gene

Zona pellucida-like domain-containing protein 1: Cytoplasmic vesicle membrane; Single-pass type I membrane protein.
Zona pellucida-like domain-containing protein 1, secreted form: Secreted, extracellular space, extracellular matrix.

Subcellular locations from

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 ZPLD1 gene
Compartment Confidence
extracellular 4
plasma membrane 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZPLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with ZPLD1: view

Pathways & Interactions for ZPLD1 Gene

SuperPathways for ZPLD1 Gene

No Data Available

Interacting Proteins for ZPLD1 Gene

Selected Interacting proteins: Q8TCW7-ZPLD1_HUMAN for ZPLD1 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for ZPLD1 Gene


No data available for Pathways by source and SIGNOR curated interactions for ZPLD1 Gene

Drugs & Compounds for ZPLD1 Gene

No Compound Related Data Available

Transcripts for ZPLD1 Gene

mRNA/cDNA for ZPLD1 Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ZPLD1 Gene

Zona pellucida-like domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZPLD1 Gene

No ASD Table

Relevant External Links for ZPLD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ZPLD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZPLD1 Gene

mRNA differential expression in normal tissues according to GTEx for ZPLD1 Gene

This gene is overexpressed in Kidney - Cortex (x8.3) and Testis (x5.0).

NURSA nuclear receptor signaling pathways regulating expression of ZPLD1 Gene:


SOURCE GeneReport for Unigene cluster for ZPLD1 Gene:


mRNA Expression by UniProt/SwissProt for ZPLD1 Gene:

Tissue specificity: Detected in placenta, kidney, lung, pancreas and at very low level in other tissues.

Evidence on tissue expression from TISSUES for ZPLD1 Gene

  • Eye(4)
genes like me logo Genes that share expression patterns with ZPLD1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZPLD1 Gene

Orthologs for ZPLD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZPLD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZPLD1 33 34
  • 99.12 (n)
(Canis familiaris)
Mammalia ZPLD1 33 34
  • 92.53 (n)
(Monodelphis domestica)
Mammalia ZPLD1 34
  • 91 (a)
(Rattus norvegicus)
Mammalia Zpld1 33
  • 90.78 (n)
(Bos Taurus)
Mammalia ZPLD1 33 34
  • 90.76 (n)
(Mus musculus)
Mammalia Zpld1 33 16 34
  • 87.63 (n)
(Ornithorhynchus anatinus)
Mammalia ZPLD1 34
  • 87 (a)
(Gallus gallus)
Aves ZPLD1 33 34
  • 81.34 (n)
(Anolis carolinensis)
Reptilia ZPLD1 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732051 33
  • 46.15 (n)
(Danio rerio)
Actinopterygii zpld1b 34
  • 69 (a)
zpld1a 33 34
  • 67.4 (n)
Species where no ortholog for ZPLD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ZPLD1 Gene

Gene Tree for ZPLD1 (if available)
Gene Tree for ZPLD1 (if available)

Paralogs for ZPLD1 Gene

Paralogs for ZPLD1 Gene

genes like me logo Genes that share paralogs with ZPLD1: view

Variants for ZPLD1 Gene

Sequence variations from dbSNP and Humsavar for ZPLD1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000023602 -- 102,445,523(+) T/A/G intron_variant
rs1000023668 -- 102,408,865(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000060112 -- 102,395,722(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000075740 -- 102,388,455(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000081226 -- 102,446,620(+) G/ intron_variant

Variation tolerance for ZPLD1 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.13; 87.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZPLD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ZPLD1 Gene

Disorders for ZPLD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZPLD1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebral cavernous malformations
  • ccm
- elite association - COSMIC cancer census association via MalaCards
Search ZPLD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZPLD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZPLD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZPLD1 Gene

Publications for ZPLD1 Gene

  1. ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. (PMID: 18632209) Gianfrancesco F … Squitieri F (Neuroscience 2008) 2 3 4 58
  2. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PMID: 21490949) Sim X … Tai ES (PLoS genetics 2011) 3 44 58
  3. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. (PMID: 20950786) Glessner JT … Grant SF (American journal of human genetics 2010) 3 44 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. (PMID: 23192594) Velez Edwards DR … Edwards TL (Human genetics 2013) 3 58

Products for ZPLD1 Gene

Sources for ZPLD1 Gene

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