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Protein

Protein disulfide-isomerase-like protein of the testis

Gene

PDILT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable redox-inactive chaperone involved in spermatogenesis.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chaperone, Developmental protein, Isomerase

Keywords - Biological processi

Differentiation, Spermatogenesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169340-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein disulfide-isomerase-like protein of the testis
Gene namesi
Name:PDILT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:27338. PDILT.

Subcellular locationi

  • Endoplasmic reticulum PROSITE-ProRule annotation1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi135C → A: Does not affect homodimerization; when associated with A-420. 1 Publication1
Mutagenesisi420C → A: Does not affect homodimerization; when associated with A-135. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000169340.
PharmGKBiPA164724442.

Polymorphism and mutation databases

BioMutaiPDILT.
DMDMi172045780.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000032584921 – 584Protein disulfide-isomerase-like protein of the testisAdd BLAST564

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi58N-linked (GlcNAc...)Sequence analysis1
Glycosylationi128N-linked (GlcNAc...)Sequence analysis1
Glycosylationi160N-linked (GlcNAc...)Sequence analysis1
Glycosylationi340N-linked (GlcNAc...)Sequence analysis1
Glycosylationi540N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8N807.
PeptideAtlasiQ8N807.
PRIDEiQ8N807.

PTM databases

iPTMnetiQ8N807.
PhosphoSitePlusiQ8N807.

Expressioni

Tissue specificityi

Testis-specific.2 Publications

Gene expression databases

BgeeiENSG00000169340.
ExpressionAtlasiQ8N807. baseline and differential.
GenevisibleiQ8N807. HS.

Organism-specific databases

HPAiHPA041913.

Interactioni

Subunit structurei

Homodimer. The homodimer is not disulfide-linked. Interacts with ERO1A and CLGN.2 Publications

Protein-protein interaction databases

STRINGi9606.ENSP00000305465.

Structurei

Secondary structure

1584
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi258 – 260Combined sources3
Helixi267 – 270Combined sources4
Beta strandi275 – 282Combined sources8
Helixi289 – 300Combined sources12
Helixi301 – 303Combined sources3
Turni304 – 306Combined sources3
Beta strandi308 – 313Combined sources6
Helixi317 – 319Combined sources3
Helixi320 – 325Combined sources6
Beta strandi334 – 340Combined sources7
Turni341 – 343Combined sources3
Beta strandi346 – 348Combined sources3
Helixi356 – 367Combined sources12
Helixi370 – 374Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NWYX-ray2.00A/B/C/D258-386[»]
ProteinModelPortaliQ8N807.
SMRiQ8N807.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini388 – 451ThioredoxinPROSITE-ProRule annotationAdd BLAST64

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi581 – 584Prevents secretion from ERPROSITE-ProRule annotation4

Domaini

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.

Sequence similaritiesi

Belongs to the protein disulfide isomerase family.Curated
Contains 1 thioredoxin domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG0191. Eukaryota.
COG0526. LUCA.
GeneTreeiENSGT00860000133691.
HOGENOMiHOG000115479.
HOVERGENiHBG108240.
InParanoidiQ8N807.
KOiK20354.
OMAiQKAFLFN.
OrthoDBiEOG091G0B2I.
PhylomeDBiQ8N807.
TreeFamiTF106381.

Family and domain databases

Gene3Di3.40.30.10. 3 hits.
InterProiIPR012336. Thioredoxin-like_fold.
IPR013766. Thioredoxin_domain.
[Graphical view]
PfamiPF00085. Thioredoxin. 2 hits.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 4 hits.
PROSITEiPS00014. ER_TARGET. 1 hit.
PS51352. THIOREDOXIN_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8N807-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDLLWMPLLL VAACVSAVHS SPEVNAGVSS IHITKPVHIL EERSLLVLTP
60 70 80 90 100
AGLTQMLNQT RFLMVLFHNP SSKQSRNLAE ELGKAVEIMG KGKNGIGFGK
110 120 130 140 150
VDITIEKELQ QEFGITKAPE LKLFFEGNRS EPISCKGVVE SAALVVWLRR
160 170 180 190 200
QISQKAFLFN SSEQVAEFVI SRPLVIVGFF QDLEEEVAEL FYDVIKDFPE
210 220 230 240 250
LTFGVITIGN VIGRFHVTLD SVLVFKKGKI VNRQKLINDS TNKQELNRVI
260 270 280 290 300
KQHLTDFVIE YNTENKDLIS ELHIMSHMLL FVSKSSESYG IIIQHYKLAS
310 320 330 340 350
KEFQNKILFI LVDADEPRNG RVFKYFRVTE VDIPSVQILN LSSDARYKMP
360 370 380 390 400
SDDITYESLK KFGRSFLSKN ATKHQSSEEI PKYWDQGLVK QLVGKNFNVV
410 420 430 440 450
VFDKEKDVFV MFYAPWSKKC KMLFPLLEEL GRKYQNHSTI IIAKIDVTAN
460 470 480 490 500
DIQLMYLDRY PFFRLFPSGS QQAVLYKGEH TLKGFSDFLE SHIKTKIEDE
510 520 530 540 550
DELLSVEQNE VIEEEVLAEE KEVPMMRKGL PEQQSPELEN MTKYVSKLEE
560 570 580
PAGKKKTSEE VVVVVAKPKG PPVQKKKPKV KEEL
Length:584
Mass (Da):66,657
Last modified:March 18, 2008 - v2
Checksum:i03F7EAD418B3494C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti561V → E in BAC05068 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03993726A → T.Corresponds to variant rs9926580dbSNPEnsembl.1
Natural variantiVAR_039938106E → Q in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_039939446D → N.Corresponds to variant rs11648131dbSNPEnsembl.1
Natural variantiVAR_039940447V → I.Corresponds to variant rs11865916dbSNPEnsembl.1
Natural variantiVAR_039941475L → R.Corresponds to variant rs4500734dbSNPEnsembl.1
Natural variantiVAR_039942527R → K.1 PublicationCorresponds to variant rs9652589dbSNPEnsembl.1
Natural variantiVAR_039943529G → E.1 PublicationCorresponds to variant rs9652588dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097476 mRNA. Translation: BAC05068.1.
CH471186 Genomic DNA. Translation: EAW50316.1.
BC042607 mRNA. Translation: AAH42607.1.
BC044936 mRNA. Translation: AAH44936.1.
CCDSiCCDS10584.1.
RefSeqiNP_777584.1. NM_174924.1.
UniGeneiHs.376025.

Genome annotation databases

EnsembliENST00000302451; ENSP00000305465; ENSG00000169340.
GeneIDi204474.
KEGGihsa:204474.
UCSCiuc002dhc.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097476 mRNA. Translation: BAC05068.1.
CH471186 Genomic DNA. Translation: EAW50316.1.
BC042607 mRNA. Translation: AAH42607.1.
BC044936 mRNA. Translation: AAH44936.1.
CCDSiCCDS10584.1.
RefSeqiNP_777584.1. NM_174924.1.
UniGeneiHs.376025.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NWYX-ray2.00A/B/C/D258-386[»]
ProteinModelPortaliQ8N807.
SMRiQ8N807.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000305465.

PTM databases

iPTMnetiQ8N807.
PhosphoSitePlusiQ8N807.

Polymorphism and mutation databases

BioMutaiPDILT.
DMDMi172045780.

Proteomic databases

PaxDbiQ8N807.
PeptideAtlasiQ8N807.
PRIDEiQ8N807.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302451; ENSP00000305465; ENSG00000169340.
GeneIDi204474.
KEGGihsa:204474.
UCSCiuc002dhc.2. human.

Organism-specific databases

CTDi204474.
GeneCardsiPDILT.
H-InvDBHIX0019226.
HGNCiHGNC:27338. PDILT.
HPAiHPA041913.
neXtProtiNX_Q8N807.
OpenTargetsiENSG00000169340.
PharmGKBiPA164724442.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0191. Eukaryota.
COG0526. LUCA.
GeneTreeiENSGT00860000133691.
HOGENOMiHOG000115479.
HOVERGENiHBG108240.
InParanoidiQ8N807.
KOiK20354.
OMAiQKAFLFN.
OrthoDBiEOG091G0B2I.
PhylomeDBiQ8N807.
TreeFamiTF106381.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169340-MONOMER.

Miscellaneous databases

ChiTaRSiPDILT. human.
GenomeRNAii204474.
PROiQ8N807.

Gene expression databases

BgeeiENSG00000169340.
ExpressionAtlasiQ8N807. baseline and differential.
GenevisibleiQ8N807. HS.

Family and domain databases

Gene3Di3.40.30.10. 3 hits.
InterProiIPR012336. Thioredoxin-like_fold.
IPR013766. Thioredoxin_domain.
[Graphical view]
PfamiPF00085. Thioredoxin. 2 hits.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 4 hits.
PROSITEiPS00014. ER_TARGET. 1 hit.
PS51352. THIOREDOXIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPDILT_HUMAN
AccessioniPrimary (citable) accession number: Q8N807
Secondary accession number(s): Q8IVQ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: November 30, 2016
This is version 117 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.