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    PDILT protein disulfide isomerase like, testis expressed [ Homo sapiens (human) ]

    Gene ID: 204474, updated on 11-Apr-2024

    Summary

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    Official Symbol
    PDILTprovided by HGNC
    Official Full Name
    protein disulfide isomerase like, testis expressedprovided by HGNC
    Primary source
    HGNC:HGNC:27338
    See related
    Ensembl:ENSG00000169340 MIM:618588; AllianceGenome:HGNC:27338
    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
    Also known as
    PDIA7
    Summary
    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]
    Expression
    Restricted expression toward testis (RPKM 10.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See PDILT in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20359175..20404737, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20290188..20335745, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20370497..20416059, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene glycoprotein 2 Neighboring gene uromodulin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:20397845-20398378 Neighboring gene acyl-CoA synthetase medium chain family member 5 Neighboring gene uncharacterized LOC105371119

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Crystal and solution structures of human protein-disulfide isomerase-like protein of the testis (PDILT) provide insight into its chaperone activity. Li H, et al. J Biol Chem, 2018 Jan 26. PMID 29203529, Free PMC Article
    2. Structure of the substrate-binding b' domain of the Protein Disulfide Isomerase-Like protein of the Testis. Bastos-Aristizabal S, et al. Sci Rep, 2014 Mar 25. PMID 24662985, Free PMC Article
    3. PDILT, a divergent testis-specific protein disulfide isomerase with a non-classical SXXC motif that engages in disulfide-dependent interactions in the endoplasmic reticulum. van Lith M, et al. J Biol Chem, 2005 Jan 14. PMID 15475357
    4. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. Olden M, et al. J Am Soc Nephrol, 2014 Aug. PMID 24578125, Free PMC Article
    5. The human protein disulfide isomerase gene family. Galligan JJ, et al. Hum Genomics, 2012 Jul 5. PMID 23245351, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. indings have identified the critical regions and conformational changes of PDILT that enable and control its activity. These results advance our understanding of the structural mechanisms involved in the chaperone activity of PDILT.
      Title: Crystal and solution structures of human protein-disulfide isomerase-like protein of the testis (PDILT) provide insight into its chaperone activity.
    2. Further studies of this recently discovered PDI member would help to understand the important role that PDILT plays in the differentiation and maturation of spermatozoids.
      Title: Structure of the substrate-binding b' domain of the Protein Disulfide Isomerase-Like protein of the Testis.
    3. The expression of PDILT, in addition to PDI in the testis, suggests that PDILT performs a specialized chaperone function in testicular cells.
      Title: PDILT, a divergent testis-specific protein disulfide isomerase with a non-classical SXXC motif that engages in disulfide-dependent interactions in the endoplasmic reticulum.
    Submit: New GeneRIF Correction

    Phenotypes

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    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
    Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein disulfide isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein folding chaperone EXP
    Inferred from Experiment
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in germ cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein disulfide-isomerase-like protein of the testis
    Names
    protein disulfide isomerase family A, member 7

    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_174924.2 → NP_777584.1  protein disulfide-isomerase-like protein of the testis precursor

      See identical proteins and their annotated locations for NP_777584.1

      Status: VALIDATED

      Source sequence(s)
      AC137056, BC042607
      Consensus CDS
      CCDS10584.1
      UniProtKB/Swiss-Prot
      Q8IVQ5, Q8N807
      Related
      ENSP00000305465.4, ENST00000302451.9
      Conserved Domains (1) summary
      cl27119
      Location:46 → 501
      YbbN; Negative regulator of GroEL, contains thioredoxin-like and TPR-like domains [Posttranslational modification, protein turnover, chaperones]

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      20359175..20404737 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545766.4 → XP_011544068.1  protein disulfide-isomerase-like protein of the testis isoform X2

      Conserved Domains (3) summary
      cd02982
      Location:1 → 93
      PDI_b'_family; Protein Disulfide Isomerase (PDIb') family, redox inactive TRX-like domain b'; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...
      cd02995
      Location:115 → 215
      PDI_a_PDI_a'_C; PDIa family, C-terminal TRX domain (a') subfamily; composed of the C-terminal redox active a' domains of PDI, ERp72, ERp57 (or ERp60) and EFP1. PDI, ERp72 and ERp57 are endoplasmic reticulum (ER)-resident eukaryotic proteins involved in oxidative protein ...
      pfam13848
      Location:7 → 216
      Thioredoxin_6; Thioredoxin-like domain

    2. XM_011545765.2 → XP_011544067.1  protein disulfide-isomerase-like protein of the testis isoform X1

      See identical proteins and their annotated locations for XP_011544067.1

      Conserved Domains (3) summary
      cd02961
      Location:46 → 148
      PDI_a_family; Protein Disulfide Isomerase (PDIa) family, redox active TRX domains; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family include PDI ...
      cd02981
      Location:159 → 253
      PDI_b_family; Protein Disulfide Isomerase (PDIb) family, redox inactive TRX-like domain b; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...
      cd02982
      Location:270 → 346
      PDI_b'_family; Protein Disulfide Isomerase (PDIb') family, redox inactive TRX-like domain b'; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...

    3. XM_011545764.2 → XP_011544066.1  protein disulfide-isomerase-like protein of the testis isoform X1

      See identical proteins and their annotated locations for XP_011544066.1

      Conserved Domains (3) summary
      cd02961
      Location:46 → 148
      PDI_a_family; Protein Disulfide Isomerase (PDIa) family, redox active TRX domains; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family include PDI ...
      cd02981
      Location:159 → 253
      PDI_b_family; Protein Disulfide Isomerase (PDIb) family, redox inactive TRX-like domain b; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...
      cd02982
      Location:270 → 346
      PDI_b'_family; Protein Disulfide Isomerase (PDIb') family, redox inactive TRX-like domain b'; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...

    RNA

    1. XR_950754.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      20290188..20335745 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379809.1 → XP_054235784.1  protein disulfide-isomerase-like protein of the testis isoform X2

    2. XM_054379808.1 → XP_054235783.1  protein disulfide-isomerase-like protein of the testis isoform X1

    3. XM_054379807.1 → XP_054235782.1  protein disulfide-isomerase-like protein of the testis isoform X1

    RNA

    1. XR_008489064.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N807.2 GenPept UniProtKB/Swiss-Prot:Q8N807

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