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Q8N807 (PDILT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein disulfide-isomerase-like protein of the testis
Gene names
Name:PDILT
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length584 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable redox-inactive chaperone involved in spermatogenesis. Ref.5

Subunit structure

Homodimer. The homodimer is not disulfide-linked. Interacts with ERO1L and CLGN. Ref.4 Ref.5

Subcellular location

Endoplasmic reticulum Ref.4.

Tissue specificity

Testis-specific. Ref.4 Ref.5

Domain

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.

Post-translational modification

N-glycosylated. Ref.4

Sequence similarities

Belongs to the protein disulfide isomerase family.

Contains 1 thioredoxin domain.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 584564Protein disulfide-isomerase-like protein of the testis
PRO_0000325849

Regions

Domain388 – 45164Thioredoxin
Motif581 – 5844Prevents secretion from ER Potential

Amino acid modifications

Glycosylation581N-linked (GlcNAc...) Potential
Glycosylation1281N-linked (GlcNAc...) Potential
Glycosylation1601N-linked (GlcNAc...) Potential
Glycosylation3401N-linked (GlcNAc...) Potential
Glycosylation5401N-linked (GlcNAc...) Potential

Natural variations

Natural variant261A → T.
Corresponds to variant rs9926580 [ dbSNP | Ensembl ].
VAR_039937
Natural variant1061E → Q in a colorectal cancer sample; somatic mutation. Ref.6
VAR_039938
Natural variant4461D → N.
Corresponds to variant rs11648131 [ dbSNP | Ensembl ].
VAR_039939
Natural variant4471V → I.
Corresponds to variant rs11865916 [ dbSNP | Ensembl ].
VAR_039940
Natural variant4751L → R.
Corresponds to variant rs4500734 [ dbSNP | Ensembl ].
VAR_039941
Natural variant5271R → K. Ref.1
Corresponds to variant rs9652589 [ dbSNP | Ensembl ].
VAR_039942
Natural variant5291G → E. Ref.1
Corresponds to variant rs9652588 [ dbSNP | Ensembl ].
VAR_039943

Experimental info

Mutagenesis1351C → A: Does not affect homodimerization; when associated with A-420. Ref.5
Mutagenesis4201C → A: Does not affect homodimerization; when associated with A-135. Ref.5
Sequence conflict5611V → E in BAC05068. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q8N807 [UniParc].

Last modified March 18, 2008. Version 2.
Checksum: 03F7EAD418B3494C

FASTA58466,657
        10         20         30         40         50         60 
MDLLWMPLLL VAACVSAVHS SPEVNAGVSS IHITKPVHIL EERSLLVLTP AGLTQMLNQT 

        70         80         90        100        110        120 
RFLMVLFHNP SSKQSRNLAE ELGKAVEIMG KGKNGIGFGK VDITIEKELQ QEFGITKAPE 

       130        140        150        160        170        180 
LKLFFEGNRS EPISCKGVVE SAALVVWLRR QISQKAFLFN SSEQVAEFVI SRPLVIVGFF 

       190        200        210        220        230        240 
QDLEEEVAEL FYDVIKDFPE LTFGVITIGN VIGRFHVTLD SVLVFKKGKI VNRQKLINDS 

       250        260        270        280        290        300 
TNKQELNRVI KQHLTDFVIE YNTENKDLIS ELHIMSHMLL FVSKSSESYG IIIQHYKLAS 

       310        320        330        340        350        360 
KEFQNKILFI LVDADEPRNG RVFKYFRVTE VDIPSVQILN LSSDARYKMP SDDITYESLK 

       370        380        390        400        410        420 
KFGRSFLSKN ATKHQSSEEI PKYWDQGLVK QLVGKNFNVV VFDKEKDVFV MFYAPWSKKC 

       430        440        450        460        470        480 
KMLFPLLEEL GRKYQNHSTI IIAKIDVTAN DIQLMYLDRY PFFRLFPSGS QQAVLYKGEH 

       490        500        510        520        530        540 
TLKGFSDFLE SHIKTKIEDE DELLSVEQNE VIEEEVLAEE KEVPMMRKGL PEQQSPELEN 

       550        560        570        580 
MTKYVSKLEE PAGKKKTSEE VVVVVAKPKG PPVQKKKPKV KEEL 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LYS-527 AND GLU-529.
Tissue: Testis.
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[4]"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., Hartigan N., Hatch J., Benham A.M.
J. Biol. Chem. 280:1376-1383(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, TISSUE SPECIFICITY, INTERACTION WITH ERO1L.
[5]"A developmentally regulated chaperone complex for the endoplasmic reticulum of male haploid germ cells."
van Lith M., Karala A.R., Bown D., Gatehouse J.A., Ruddock L.W., Saunders P.T.K., Benham A.M.
Mol. Biol. Cell 18:2795-2804(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION, SUBUNIT, INTERACTION WITH CLGN, MUTAGENESIS OF CYS-135 AND CYS-420.
[6]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-106.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK097476 mRNA. Translation: BAC05068.1.
CH471186 Genomic DNA. Translation: EAW50316.1.
BC042607 mRNA. Translation: AAH42607.1.
BC044936 mRNA. Translation: AAH44936.1.
RefSeqNP_777584.1. NM_174924.1.
UniGeneHs.376025.

3D structure databases

ProteinModelPortalQ8N807.
SMRQ8N807. Positions 13-491.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000305465.

PTM databases

PhosphoSiteQ8N807.

Polymorphism databases

DMDM172045780.

Proteomic databases

PaxDbQ8N807.
PRIDEQ8N807.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000302451; ENSP00000305465; ENSG00000169340.
GeneID204474.
KEGGhsa:204474.
UCSCuc002dhc.1. human.

Organism-specific databases

CTD204474.
GeneCardsGC16M020370.
H-InvDBHIX0019226.
HGNCHGNC:27338. PDILT.
HPAHPA041913.
neXtProtNX_Q8N807.
PharmGKBPA164724442.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0526.
HOGENOMHOG000115479.
HOVERGENHBG108240.
InParanoidQ8N807.
OMAQKAFLFN.
OrthoDBEOG7VHSX1.
PhylomeDBQ8N807.
TreeFamTF106381.

Gene expression databases

ArrayExpressQ8N807.
BgeeQ8N807.
GenevestigatorQ8N807.

Family and domain databases

Gene3D3.40.30.10. 3 hits.
InterProIPR012336. Thioredoxin-like_fold.
IPR013766. Thioredoxin_domain.
[Graphical view]
PfamPF00085. Thioredoxin. 2 hits.
[Graphical view]
SUPFAMSSF52833. SSF52833. 4 hits.
PROSITEPS00014. ER_TARGET. 1 hit.
PS51352. THIOREDOXIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi204474.
NextBio90472.
PROQ8N807.

Entry information

Entry namePDILT_HUMAN
AccessionPrimary (citable) accession number: Q8N807
Secondary accession number(s): Q8IVQ5
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: March 19, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM