U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 131368, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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 be an extracellular matrix structural constituent. Predicted to act upstream of or within vestibular reflex. Predicted to be located in cytoplasmic vesicle membrane. Predicted to be integral component of membrane. Predicted to be active in cell surface and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in gall bladder (RPKM 1.4), duodenum (RPKM 0.4) and 5 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
3q12.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (102385144..102479841)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (105100434..105195138)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
zona pellucida-like domain-containing protein 1
Names
ZP domain-containing protein 1
cupulin

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous