This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-te... See more...

Aliases for PDILT Gene

Aliases for PDILT Gene

  • Protein Disulfide Isomerase Like, Testis Expressed 2 3 5
  • Protein Disulfide-Isomerase-Like Protein Of The Testis 3 4
  • Protein Disulfide Isomerase Family A, Member 7 2 3
  • PDIA7 2 3
  • Protein Disulfide Isomerase-Like Protein Of The Testis 2
  • Protein Disulfide Isomerase-Like, Testis Expressed 2
  • PDILT 5

External Ids for PDILT Gene

Previous GeneCards Identifiers for PDILT Gene

  • GC16M020278
  • GC16M018907

Summaries for PDILT Gene

Entrez Gene Summary for PDILT Gene

  • This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]

GeneCards Summary for PDILT Gene

PDILT (Protein Disulfide Isomerase Like, Testis Expressed) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein disulfide isomerase activity and peptidyl-proline 4-dioxygenase activity. An important paralog of this gene is PDIA2.

UniProtKB/Swiss-Prot Summary for PDILT Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDILT Gene

Genomics for PDILT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDILT 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
GH16J020404 Promoter 0.3 EPDnew 250.7 0.0 -15 0.1 PDILT ACSM5 piR-34822-119
GH16J020783 Enhancer 0.2 FANTOM5 70.8 -378.4 -378423 0.2 HSALNG0110080 HSALNG0110081 RF00026-376 RNU6-944P PDILT THUMPD1 lnc-THUMPD1-3 REXO5 ERI2 ACSM3
GH16J020426 Enhancer 0.8 ENCODE 5.8 -22.0 -21959 1.1 CEBPA HOMEZ THAP11 FOXA2 KDM6A RXRA SAP130 MIER3 RARA THRB VPS35L ACSM5 THUMPD1 PDILT piR-44560-001 HSALNG0110053 HSALNG0110054 ACSM2A
GH16J020363 Enhancer 0.3 ENCODE 8.1 +41.3 41338 0.1 U2AF2 THUMPD1 PDILT HSALNG0110050 lnc-UMOD-1 UMOD
GH16J020385 Promoter/Enhancer 1.2 Ensembl ENCODE 0.4 +18.2 18238 1.2 ZNF654 ATF3 YY1 CTCF ZFP64 KDM6A RXRA SAP130 RAD21 ZBTB33 ENSG00000263237 lnc-ACSM5-4 PDILT UMOD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the PDILT gene promoter:
  • AP-1
  • AP-4
  • CUTL1
  • HEN1
  • NF-1
  • Pax-4a
  • PPAR-alpha
  • STAT3
  • YY1

Genomic Locations for PDILT Gene

Latest Assembly
chr16:20,359,171-20,404,742
(GRCh38/hg38)
Size:
45,572 bases
Orientation:
Minus strand

Previous Assembly
chr16:20,370,497-20,416,059
(GRCh37/hg19 by Entrez Gene)
Size:
45,563 bases
Orientation:
Minus strand

chr16:20,370,492-20,416,059
(GRCh37/hg19 by Ensembl)
Size:
45,568 bases
Orientation:
Minus strand

Genomic View for PDILT Gene

Genes around PDILT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PDILT Gene

Proteins for PDILT Gene

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

    Protein Symbol:
    Q8N807-PDILT_HUMAN
    Recommended name:
    Protein disulfide-isomerase-like protein of the testis
    Protein Accession:
    Q8N807
    Secondary Accessions:
    • Q8IVQ5

    Protein attributes for PDILT Gene

    Size:
    584 amino acids
    Molecular mass:
    66657 Da
    Quaternary structure:
    • Homodimer. The homodimer is not disulfide-linked. Interacts with ERO1A and CLGN.

    Three dimensional structures from OCA and Proteopedia for PDILT Gene

neXtProt entry for PDILT Gene

Post-translational modifications for PDILT Gene

Other Protein References for PDILT Gene

No data available for DME Specific Peptides for PDILT Gene

Domains & Families for PDILT Gene

Gene Families for PDILT Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PDILT Gene

Suggested Antigen Peptide Sequences for PDILT Gene

GenScript: Design optimal peptide antigens:
  • Protein disulfide-isomerase-like protein of the testis (PDILT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N807

UniProtKB/Swiss-Prot:

PDILT_HUMAN :
  • The thioredoxin domain lacks the conserved redox-active Cys at position 417 which is replaced by a Ser residue, suggesting that it lacks thioredoxin activity.
  • Belongs to the protein disulfide isomerase family.
Domain:
  • The thioredoxin domain lacks the conserved redox-active Cys at position 417 which is replaced by a Ser residue, suggesting that it lacks thioredoxin activity.
Family:
  • Belongs to the protein disulfide isomerase family.
genes like me logo Genes that share domains with PDILT: view

Function for PDILT Gene

Molecular function for PDILT Gene

UniProtKB/Swiss-Prot Function:
Probable redox-inactive chaperone involved in spermatogenesis.

Phenotypes From GWAS Catalog for PDILT Gene

Gene Ontology (GO) - Molecular Function for PDILT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PDILT: view
genes like me logo Genes that share phenotypes with PDILT: view

Animal Models for PDILT Gene

MGI Knock Outs for PDILT:

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PDILT Gene

Localization for PDILT Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDILT Gene

Endoplasmic reticulum.

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 PDILT gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 1
extracellular 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PDILT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
genes like me logo Genes that share ontologies with PDILT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PDILT Gene

Pathways & Interactions for PDILT Gene

PathCards logo

SuperPathways for PDILT Gene

No Data Available

Gene Ontology (GO) - Biological Process for PDILT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0007286 spermatid development IEA --
GO:0016477 cell migration IEA --
genes like me logo Genes that share ontologies with PDILT: view

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

Drugs & Compounds for PDILT Gene

No Compound Related Data Available

Transcripts for PDILT Gene

mRNA/cDNA for PDILT Gene

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

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for PDILT Gene

GeneLoc Exon Structure for
PDILT

Expression for PDILT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

This gene is overexpressed in Stomach (x44.3) and Testis (x8.3).

Protein differential expression in normal tissues from HIPED for PDILT Gene

This gene is overexpressed in Cerebrospinal fluid (44.9), Heart (10.0), Tlymphocyte (6.5), and Testis (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDILT Gene



Protein tissue co-expression partners for PDILT Gene

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

SOURCE GeneReport for Unigene cluster for PDILT Gene:

Hs.376025

mRNA Expression by UniProt/SwissProt for PDILT Gene:

Q8N807-PDILT_HUMAN
Tissue specificity: Testis-specific.

Evidence on tissue expression from TISSUES for PDILT Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PDILT: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PDILT Gene

Orthologs for PDILT Gene

This gene was present in the common ancestor of animals.

Orthologs for PDILT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PDILT 29 30
  • 98.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PDILT 29 30
  • 84.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PDILT 29 30
  • 82.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pdilt 29
  • 80.31 (n)
Mouse
(Mus musculus)
Mammalia Pdilt 29 16 30
  • 78.8 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PDILT 30
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PDILT 29 30
  • 54.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PDILT 30
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pdilt 29
  • 53.29 (n)
Zebrafish
(Danio rerio)
Actinopterygii PDILT 30
  • 33 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Pdi 30
  • 29 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pdi-2 30
  • 31 (a)
ManyToMany
pdi-1 30
  • 24 (a)
ManyToMany
M04D5.1 30
  • 23 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11000 30
  • 29 (a)
OneToMany
Species where no ortholog for PDILT 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 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)

Evolution for PDILT Gene

ENSEMBL:
Gene Tree for PDILT (if available)
TreeFam:
Gene Tree for PDILT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDILT: view image
Alliance of Genome Resources:
Additional Orthologs for PDILT

Paralogs for PDILT Gene

(28) SIMAP similar genes for PDILT Gene using alignment to 2 proteins:

  • PDILT_HUMAN
  • I3L1W7_HUMAN
genes like me logo Genes that share paralogs with PDILT: view

Variants for PDILT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDILT Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs773495613 A colorectal cancer sample p.Glu106Gln
rs11648131 -- p.Asp446Asn
rs11865916 -- p.Val447Ile
rs4500734 -- p.Leu475Arg
rs9652588 -- p.Gly529Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDILT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PDILT Gene

Variant ID Type Subtype PubMed ID
dgv2795n100 CNV gain 25217958
dgv4942n54 CNV gain 21841781
esv3638138 CNV gain 21293372
nsv1047399 CNV gain 25217958
nsv1759 CNV insertion 18451855
nsv436835 CNV insertion 17901297

Variation tolerance for PDILT Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.61; 86.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDILT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDILT
Leiden Open Variation Database (LOVD)
PDILT

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDILT Gene

Disorders for PDILT Gene

Additional Disease Information for PDILT

No disorders were found for PDILT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PDILT Gene

Publications for PDILT Gene

  1. PDILT, a divergent testis-specific protein disulfide isomerase with a non-classical SXXC motif that engages in disulfide-dependent interactions in the endoplasmic reticulum. (PMID: 15475357) van Lith M … Benham AM (The Journal of biological chemistry 2005) 2 3 4
  2. Structure of the substrate-binding b' domain of the Protein Disulfide Isomerase-Like protein of the Testis. (PMID: 24662985) Bastos-Aristizabal S … Gehring K (Scientific reports 2014) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Crystal and solution structures of human protein-disulfide isomerase-like protein of the testis (PDILT) provide insight into its chaperone activity. (PMID: 29203529) Li H … Liang H (The Journal of biological chemistry 2018) 3
  5. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. (PMID: 24578125) Olden M … Devuyst O (Journal of the American Society of Nephrology : JASN 2014) 3

Products for PDILT Gene

Sources for PDILT Gene