Format

Send to:

Choose Destination

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

Gene ID: 204474, updated on 23-Nov-2021

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
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PDILT in Genome Data Viewer
Location:
16p12.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (20359171..20404742, complement)
105.20201022 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 acyl-CoA synthetase medium chain family member 5 Neighboring gene uncharacterized LOC105371119

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
GeneReviews: Not available
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
GeneReviews: Not available
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein disulfide isomerase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_174924.2NP_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
    Q8N807
    Related
    ENSP00000305465.4, ENST00000302451.9
    Conserved Domains (1) summary
    cl27119
    Location:46501
    YbbN; Negative regulator of GroEL, contains thioredoxin-like and TPR-like domains [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    20359171..20404742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545766.3XP_011544068.1  protein disulfide-isomerase-like protein of the testis isoform X2

    Conserved Domains (3) summary
    cd02982
    Location:193
    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:115215
    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:7216
    Thioredoxin_6; Thioredoxin-like domain
  2. XM_011545765.1XP_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:46148
    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:159253
    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:270346
    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_011545764.1XP_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:46148
    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:159253
    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:270346
    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_950754.1 RNA Sequence

Support Center