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

Summary

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

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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 EBI GWAS CatalogPubMed
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D16S366 (e-PCR)
- UniSTS:149696

D16S2979 (e-PCR)
- UniSTS:475

D16S3230 (e-PCR)
- UniSTS:35829

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)

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

20359175..20404737 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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 ...
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

XR_950754.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

20290188..20335745 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379809.1 → XP_054235784.1 protein disulfide-isomerase-like protein of the testis isoform X2
XM_054379808.1 → XP_054235783.1 protein disulfide-isomerase-like protein of the testis isoform X1
XM_054379807.1 → XP_054235782.1 protein disulfide-isomerase-like protein of the testis isoform X1