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PDILT Gene

protein-coding   GIFtS: 43
GCID: GC16M020370

Protein Disulfide Isomerase-Like, Testis Expressed

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Disulfide Isomerase-Like, Testis Expressed1 2     PDIA72
Protein Disulfide Isomerase-Like Protein Of The Testis1 2     Protein Disulfide Isomerase Family A, Member 72
Member 71     Protein Disulfide-Isomerase-Like Protein Of The Testis2
Protein Disulfide Isomerase Family A1     

External Ids:    HGNC: 273381   Entrez Gene: 2044742   Ensembl: ENSG000001693407   UniProtKB: Q8N8073   

Export aliases for PDILT gene to outside databases

Previous GC identifers: GC16M020278 GC16M018907


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PDILT Gene:
PDILT (protein disulfide isomerase-like, testis expressed) is a protein-coding gene. Diseases associated with PDILT include kidney disease, and breast and colorectal cancer. GO annotations related to this gene include isomerase activity. An important paralog of this gene is PDIA4.

UniProtKB/Swiss-Prot: PDILT_HUMAN, Q8N807
Function: Probable redox-inactive chaperone involved in spermatogenesis




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDILT gene promoter:
         NF-1   AP-1   AP-4   CUTL1   YY1   PPAR-alpha   HEN1   STAT3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDILT promoter sequence
   Search Chromatin IP Primers for PDILT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDILT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.3   Ensembl cytogenetic band:  16p12.3   HGNC cytogenetic band: 16p12.3

PDILT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDILT gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M020370:  view genomic region     (about GC identifiers)

Start:
20,370,492 bp from pter      End:
20,416,059 bp from pter
Size:
45,568 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PDILT_HUMAN, Q8N807 (See protein sequence)
Recommended Name: Protein disulfide-isomerase-like protein of the testis precursor  
Size: 584 amino acids; 66657 Da
Subunit: Homodimer. The homodimer is not disulfide-linked. Interacts with ERO1L and CLGN
Secondary accessions: Q8IVQ5

Explore the universe of human proteins at neXtProt for PDILT: NX_Q8N807

Explore proteomics data for PDILT at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn58, Asn128, Asn160, Asn340, Asn540
  • Modification sites at PhosphoSitePlus

  • See PDILT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_777584.1  
    ENSEMBL proteins: 
     ENSP00000305465   ENSP00000459161  

    PDILT Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PDILT

    PDILT Antibody Products:

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    Cloud-Clone Corp. CLIAs for PDILT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PDI: Protein disulfide isomerases

    2 InterPro protein domains:
     IPR012336 Thioredoxin-like_fold
     IPR013766 Thioredoxin_domain

    Graphical View of Domain Structure for InterPro Entry Q8N807

    ProtoNet protein and cluster: Q8N807

    UniProtKB/Swiss-Prot: PDILT_HUMAN, Q8N807
    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
    Similarity: Belongs to the protein disulfide isomerase family
    Similarity: Contains 1 thioredoxin domain


    PDILT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDILT_HUMAN, Q8N807
    Function: Probable redox-inactive chaperone involved in spermatogenesis

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003756protein disulfide isomerase activity IBA--
    GO:0016853isomerase activity ----
    GO:0031545NOT contributes to peptidyl-proline 4-dioxygenase activity IBA--
         
    PDILT for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pdilt):
     behavior/neurological  reproductive system 

    PDILT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pdilttm1Osb for PDILT

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDILT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PDILT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDILT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDILT

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PDILT

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PDILT_HUMAN, Q8N807: Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IBA--

    PDILT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PDILT
    Interactions:

        Search GeneGlobe Interaction Network for PDILT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for PDILT (Q8N8073 ENSP000003054654) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERO1LQ96HE73, ENSP000003790424I2D: score=1 STRING: ENSP00000379042
    PRDX5ENSP000002654624STRING: ENSP00000265462
    FLAD1ENSP000002921804STRING: ENSP00000292180
    ATP5BENSP000002620304STRING: ENSP00000262030
    TALDO1ENSP000003212594STRING: ENSP00000321259
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding IBA--
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--
    GO:0034976NOT response to endoplasmic reticulum stress IBA--

    PDILT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PDILT



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PDILT gene: 
    NM_174924.1  

    Unigene Cluster for PDILT:

    Protein disulfide isomerase-like, testis expressed
    Hs.376025  [show with all ESTs]
    Unigene Representative Sequence: BC042607
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302451(uc002dhc.1) ENST00000575561
    miRNA
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    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PDILT
      QuantiFast Probe-based Assays in human, mouse, rat PDILT

    Additional mRNA sequence: 

    AK097476.1 BC042607.1 BC044936.1 

    1 DOTS entry:

    DT.99931057 

    5 AceView cDNA sequences:

    BC044936 NM_174924 BC042607 BI832163 AK097476 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PDILT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PDILT Expression
    About this image

    PDILT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDILT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.376025

    UniProtKB/Swiss-Prot: PDILT_HUMAN, Q8N807
    Tissue specificity: Testis-specific

        Custom PCR Arrays for PDILT
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDILT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PDILT gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdilt1 , 5 protein disulfide isomerase-like, testis expressed1, 5 78.8(n)1
    72.64(a)1
      7 (63.90 cM)5
    718301  NM_027943.11  NP_082219.11 
     1194865875 
    chicken
    (Gallus gallus)
    Aves PDILT1 protein disulfide isomerase-like, testis expressed 54.34(n)
    42.48(a)
      431417  XM_428969.4  XP_428969.4 
    lizard
    (Anolis carolinensis)
    Reptilia PDILT6
    protein disulfide isomerase-like, testis expressed...
    44(a)
    1 ↔ 1
    GL343621.1(54781-74574)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pdilt1 protein disulfide isomerase-like, testis expressed 53.29(n)
    44.65(a)
      100491254  XM_002931984.2  XP_002932030.2 
    zebrafish
    (Danio rerio)
    Actinopterygii PDILT6
    protein disulfide isomerase-like, testis expressed...
    33(a)
    1 ↔ 1
    1(8311012-8326027) ENSDARG00000058445
    fruit fly
    (Drosophila melanogaster)
    Insecta Pdi6
    Protein disulfide isomerase
    29(a)
    1 → many
    3L(15130838-15135692)
    worm
    (Caenorhabditis elegans)
    Secernentea pdi-26
    pdi-16
    (see all 3)
    Protein PDI-1 (pdi-1) mRNA, complete cds
    (see all 3)
    31(a)
    24(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    X(4524187-4526536) WBGene00003963
    III(3699719-3701476) WBGene00003962


    ENSEMBL Gene Tree for PDILT (if available)
    TreeFam Gene Tree for PDILT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDILT gene
    PDIA42  ERP272  TMX32  P4HB2  PDIA22  ERP442  PDIA32  
    Selected SIMAP similar genes for PDILT using alignment to 2 protein entries:     PDILT_HUMAN (see all proteins) (see all similar genes):
    C1orf143    RHBG    RPS6KA5    SLC24A1    TUBA1C    KIAA1651
    DCAF17    NLN    RQCD1    SH2B3    COQ5    EEF1E1
    ARIH1    IK    ZNF799    PFKFB3    RARS    ZNF114

    PDILT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PDILT (see all 1231)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0399384
    A colorectal cancer sample4--see VAR_0399382 E Q mis40--------
    rs620349821,2
    C,F--18954473(+) TCAAAC/TGCCTG 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs563267091,2
    C--18954546(+) TGCCCG/AGCTTA 1 -- us2k14Minor allele frequency- A:0.16CSA WA NA EA 359
    rs1418749731,2
    C--20370110(+) GCAGTA/GTAAGC 1 -- int10--------
    rs110744521,2
    C,F,A,H--20370168(+) AACCTC/GGTAGG 1 -- int115Minor allele frequency- G:0.35NS EA NA WA CSA 787
    rs1905486911,2
    --20370209(+) CTTTGC/GAGTGT 1 -- int10--------
    rs757381391,2
    C,F--20370363(+) AATGCC/TGAGCA 1 -- int11Minor allele frequency- T:0.04EA 120
    rs777066141,2
    F--20370388(+) ATTGAA/GTGTTG 1 -- int11Minor allele frequency- G:0.02WA 118
    rs575203611,2
    C,F--20370522(+) TCCACC/ACCTAC 1 -- ut311Minor allele frequency- A:0.05WA 118
    rs1995691711,2
    --20370631(+) CTGGTA/GTTGGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PDILT (20370492 - 20416059 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PDILT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1759CNV Insertion18451855
    nsv436835CNV Insertion17901297
    nsv905570CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PDILT
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for PDILT:    
    About MalaCards
    kidney disease    breast and colorectal cancer    colorectal cancer


    PDILT for disorders           About GeneDecksing


    Export disorders for PDILT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PDILT gene integrated from 10 sources:
    (articles sorted by number of sources associating them with PDILT)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 15475357)1, 2, 3 van Lith M.... Benham A.M. (J. Biol. Chem. 2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)1 Okada Y....Tanaka T. (Nat. Genet. 2012)
    4. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
    5. A developmentally regulated chaperone complex for the endoplasmic reticulum of male haploid germ cells. (PubMed id 17507649)2 van Lith M.... Benham A.M. (Mol. Biol. Cell 2007)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 204474 HGNC: 27338 AceView: LOC204474 Ensembl:ENSG00000169340 euGenes: HUgn204474
    ECgene: PDILT H-InvDB: PDILT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PDILT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PDILT gene:
    Search GeneIP for patents involving PDILT

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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