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

Gene ID: 204474, updated on 27-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20359175..20404737, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20290188..20335745, complement)
RS_2024_09 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)

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_2024_08

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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