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

Gene ID: 131368, updated on 22-Sep-2022

Summary

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
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Genomic context

See ZPLD1 in Genome Data Viewer
Location:
3q12.3
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (102385144..102479841)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (105150300..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 uncharacterized LOC107986105 Neighboring gene Sharpr-MPRA regulatory region 11515 Neighboring gene uncharacterized LOC105374016 Neighboring gene uncharacterized LOC107986106

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 

General protein information

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_001329788.2NP_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
    Q8TCW7, Q8WU36
    Related
    ENSP00000418253.1, ENST00000466937.2
    Conserved Domains (2) summary
    smart00241
    Location:44314
    ZP; Zona pellucida (ZP) domain
    pfam00100
    Location:176314
    Zona_pellucida; Zona pellucida-like domain
  2. NM_175056.2NP_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:60330
    ZP; Zona pellucida (ZP) domain
    pfam00100
    Location:192330
    Zona_pellucida; Zona pellucida-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017005703.1XP_016861192.1  zona pellucida-like domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8TCW7, Q8WU36
    Related
    ENSP00000420265.1, ENST00000491959.5
    Conserved Domains (2) summary
    smart00241
    Location:44314
    ZP; Zona pellucida (ZP) domain
    pfam00100
    Location:176314
    Zona_pellucida; Zona pellucida-like domain
  2. XM_017005704.1XP_016861193.1  zona pellucida-like domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8TCW7, Q8WU36
    Conserved Domains (2) summary
    smart00241
    Location:44314
    ZP; Zona pellucida (ZP) domain
    pfam00100
    Location:176314
    Zona_pellucida; Zona pellucida-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    105150300..105195138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)