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Aliases for PDILT Gene

Aliases for PDILT Gene

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

External Ids for PDILT Gene

Previous GeneCards Identifiers for PDILT Gene

  • GC16M020278
  • GC16M018907

Summaries for PDILT Gene

GeneCards Summary for PDILT Gene

PDILT (Protein Disulfide Isomerase Like, Testis Expressed) is a Protein Coding gene. GO annotations related to this gene include protein disulfide isomerase activity and peptidyl-proline 4-dioxygenase activity. An important paralog of this gene is PDIA3.

UniProtKB/Swiss-Prot for PDILT Gene

  • Probable redox-inactive chaperone involved in spermatogenesis.

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

Genomics for PDILT Gene

Regulatory Elements for PDILT Gene

Enhancers for PDILT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PDILT on UCSC Golden Path with GeneCards custom track

Genomic Location for PDILT Gene

Chromosome:
16
Start:
20,359,170 bp from pter
End:
20,404,742 bp from pter
Size:
45,573 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

Proteomics data for PDILT Gene at MOPED

Post-translational modifications for PDILT Gene

Other Protein References for PDILT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PDILT Gene

Domains & Families for PDILT Gene

Gene Families for PDILT Gene

Protein Domains for PDILT Gene

Suggested Antigen Peptide Sequences for PDILT Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 1 thioredoxin domain.
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.
genes like me logo Genes that share phenotypes with PDILT: view

Animal Models for PDILT Gene

MGI Knock Outs for PDILT:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PDILT Gene COMPARTMENTS Subcellular localization image for PDILT gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for PDILT Gene

Pathways & Interactions for PDILT Gene

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 IEA,IBA --
GO:0007275 multicellular organism development IEA --
GO:0007286 spermatid development IEA --
GO:0008152 metabolic process IEA --
GO:0034976 NOT response to endoplasmic reticulum stress IBA --
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

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

Unigene Clusters for PDILT Gene

Protein disulfide isomerase-like, testis expressed:
Representative Sequences:

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

No ASD Table

Relevant External Links for PDILT Gene

GeneLoc Exon Structure for
PDILT
ECgene alternative splicing isoforms for
PDILT

Expression for PDILT Gene

mRNA expression in normal human tissues for PDILT Gene

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, PaxDb, and MOPED for PDILT Gene



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.
genes like me logo Genes that share expression patterns with PDILT: view

Protein tissue co-expression partners for PDILT Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia PDILT 35
  • 82.41 (n)
  • 75.78 (a)
PDILT 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDILT 35
  • 84.83 (n)
  • 79.83 (a)
PDILT 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdilt 35
  • 78.8 (n)
  • 72.64 (a)
Pdilt 16
Pdilt 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDILT 35
  • 98.76 (n)
  • 97.7 (a)
PDILT 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdilt 35
  • 80.31 (n)
  • 75.2 (a)
oppossum
(Monodelphis domestica)
Mammalia PDILT 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDILT 35
  • 54.34 (n)
  • 42.48 (a)
PDILT 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDILT 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdilt 35
  • 53.29 (n)
  • 44.65 (a)
zebrafish
(Danio rerio)
Actinopterygii PDILT 36
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pdi 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M04D5.1 36
  • 23 (a)
ManyToMany
pdi-1 36
  • 24 (a)
ManyToMany
pdi-2 36
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11000 36
  • 29 (a)
OneToMany
Species with no ortholog for PDILT:
  • 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)
  • 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 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)

Paralogs for PDILT Gene

Paralogs for PDILT Gene

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

Variants for PDILT Gene

Sequence variations from dbSNP and Humsavar for PDILT Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs9926580 - 20,399,225(+) ACCGG(C/G/T)GTTAA nc-transcript-variant, reference, missense
VAR_039938 A colorectal cancer sample
rs11648131 - 20,362,484(+) GACAT(C/T)GATCT intron-variant, downstream-variant-500B, reference, missense
rs11865916 - 20,362,481(+) TGTGA(A/C/T)ATCGA intron-variant, downstream-variant-500B, reference, missense
rs4500734 - 20,360,650(-) TGTCC(G/T)GTATA nc-transcript-variant, reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv436835 CNV Insertion 17901297
nsv1759 CNV Insertion 18451855
nsv905570 CNV Gain 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PDILT Gene

Disorders for PDILT Gene

Relevant External Links for PDILT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 A.M. (J. Biol. Chem. 2005) 2 3 4 67
  2. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. (PMID: 24578125) Olden M. … Devuyst O. (J. Am. Soc. Nephrol. 2014) 3
  3. Structure of the substrate-binding b' domain of the protein disulfide isomerase-like protein of the testis. (PMID: 24662985) Bastos-Aristizabal S. … Gehring K. (Sci. Rep. 2014) 3
  4. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PMID: 22797727) Okada Y. … Tanaka T. (Nat. Genet. 2012) 3
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3

Products for PDILT Gene

Sources for PDILT Gene

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