Aliases for ZPLD1 Gene

Aliases for ZPLD1 Gene

  • Zona Pellucida Like Domain Containing 1 2 3 5
  • Zona Pellucida-Like Domain-Containing Protein 1 3 4
  • ZP Domain-Containing Protein 1 3 4
  • Cupulin 3 4
  • ZPLD1 5

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 and Exudative Vitreoretinopathy 3. An important paralog of this gene is TECTB.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ZPLD1 Gene

Genomics for ZPLD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZPLD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J102224 Promoter/Enhancer 0.7 EPDnew dbSUPER 610.1 +125.4 125393 0.1 CTCF ZNF217 ZPLD1 ENSG00000249474 NFKBIZ RPL24 piR-43109-001 lnc-NFKBIZ-6 piR-31937-136
GH03J101936 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -159.8 -159841 7.7 PRDM10 ZNF629 LEF1 BACH1 JUND STAT3 PRDM1 MTA2 RELA PKNOX1 LINC02085 lnc-RPL24-7 NFKBIZ ZPLD1 NXPE3 SENP7 ZBTB11-AS1 ZBTB11 lnc-NFKBIZ-4
GH03J102122 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 14.1 +25.3 25252 3 CEBPG REST SP1 CEBPB CHD2 ZBTB33 JUND MAX DEK EP300 ZPLD1 MN309174-477 RF00994-668
GH03J101901 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -196.4 -196443 2.8 CREB1 ATF7 ZNF629 ZNF692 EED CEBPB ZNF639 JUND BRCA1 ATF3 NFKBIZ ZPLD1 NXPE3 piR-56883-116 ENSG00000287682
GH03J102188 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +93.3 93314 8.3 FOXA1 ZXDB NFE2 FOXA2 YY1 JUND ELF1 ZNF530 BATF RAD21 ZPLD1 NFKBIZ lnc-NFKBIZ-6 piR-43109-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZPLD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZPLD1

Top Transcription factor binding sites by QIAGEN in the ZPLD1 gene promoter:
  • c-Myb
  • CUTL1
  • MRF-2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • SRF
  • SRF (504 AA)

Genomic Locations for ZPLD1 Gene

Genomic Locations for ZPLD1 Gene
chr3:102,099,244-102,479,841
(GRCh38/hg38)
Size:
380,598 bases
Orientation:
Plus strand
chr3:101,818,088-102,198,685
(GRCh37/hg19)
Size:
380,598 bases
Orientation:
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:
    Q8TCW7-ZPLD1_HUMAN
    Recommended name:
    Zona pellucida-like domain-containing protein 1
    Protein Accession:
    Q8TCW7
    Secondary Accessions:
    • Q49AS1
    • Q8WU36

    Protein attributes for ZPLD1 Gene

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

    Alternative splice isoforms for ZPLD1 Gene

    UniProtKB/Swiss-Prot:

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 Asn121 and Asn164
  • 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZPLD1 Gene

GenScript: Design optimal peptide antigens:
  • Zona pellucida-like domain-containing protein 1 (ZPLD1_HUMAN)
genes like me logo Genes that share domains with ZPLD1: view

No data available for Graphical View of Domain Structure and 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

Gene Ontology (GO) - Molecular Function for ZPLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA 21873635
genes like me logo Genes that share ontologies with ZPLD1: view
genes like me logo Genes that share phenotypes with ZPLD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ZPLD1

CRISPR Products

miRNA for ZPLD1 Gene

miRTarBase miRNAs that target ZPLD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZPLD1

No data available for Enzyme Numbers (IUBMB) , 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

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 ZPLD1 gene
Compartment Confidence
extracellular 4
plasma membrane 2
peroxisome 1
nucleus 1
endoplasmic reticulum 0
cytosol 0
lysosome 0

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:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0009986 cell surface IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ZPLD1: view

Pathways & Interactions for ZPLD1 Gene

PathCards logo

SuperPathways for ZPLD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZPLD1 Gene

None

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

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZPLD1

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

No ASD Table

Relevant External Links for ZPLD1 Gene

GeneLoc Exon Structure for
ZPLD1

Expression for ZPLD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZPLD1

SOURCE GeneReport for Unigene cluster for ZPLD1 Gene:

Hs.352213

mRNA Expression by UniProt/SwissProt for ZPLD1 Gene:

Q8TCW7-ZPLD1_HUMAN
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
Chimpanzee
(Pan troglodytes)
Mammalia ZPLD1 30 31
  • 99.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZPLD1 30 31
  • 92.53 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZPLD1 31
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zpld1 30
  • 90.78 (n)
Cow
(Bos Taurus)
Mammalia ZPLD1 30 31
  • 90.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zpld1 30 17 31
  • 87.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZPLD1 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZPLD1 30 31
  • 81.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZPLD1 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101732051 30
  • 46.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii zpld1b 31
  • 69 (a)
OneToMany
zpld1a 30 31
  • 67.4 (n)
OneToMany
Species where no ortholog for ZPLD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for ZPLD1 (if available)
TreeFam:
Gene Tree for ZPLD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZPLD1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZPLD1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
782809 Benign: not provided 102,477,003(+) T/A INTRON_VARIANT
rs12054046 - p.Thr197Ala
rs6784362 - p.Ile12Phe
rs6784389 - p.Asn29Ser

Additional dbSNP identifiers (rs#s) for ZPLD1 Gene

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)
ZPLD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZPLD1

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

(3) MalaCards diseases for ZPLD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cerebral cavernous malformations
  • cam
exudative vitreoretinopathy 3
  • evr3
hemangioma of liver
  • angioma of liver
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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 41
  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 41
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy. (PMID: 23834954) Kobayashi D … Fukuda K (Molecular pain 2013) 3

Products for ZPLD1 Gene

Sources for ZPLD1 Gene