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Q8N427 (TXND3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Thioredoxin domain-containing protein 3
Alternative name(s):
NM23-H8
NME/NM23 family member 8
Spermatid-specific thioredoxin-2
Short name=Sptrx-2
Gene names
Name:NME8
Synonyms:SPTRX2, TXNDC3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length588 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds.

Subunit structure

Monomer.

Subcellular location

Cytoplasm Ref.2.

Tissue specificity

Testis-specific. Expressed only in primary spermatocytes and round spermatids. Ref.2

Developmental stage

Restricted to spermiogenesis, starting at the pachytene spermatocyte level and peaking at the round and elongating spermatid stage.

Domain

Contains 3 inactive NDK domains that each lack the active His residue, suggesting that they have no NDP kinase activity.

Involvement in disease

Ciliary dyskinesia, primary, 6 (CILD6) [MIM:610852]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

In the C-terminal section; belongs to the NDK family.

Contains 1 thioredoxin domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 588588Thioredoxin domain-containing protein 3
PRO_0000120156

Regions

Domain2 – 119118Thioredoxin
Region157 – 257101NDK 1
Region315 – 455141NDK 2
Region456 – 588133NDK 3

Amino acid modifications

Disulfide bond39 ↔ 42Redox-active By similarity

Natural variations

Natural variant431R → K.
Corresponds to variant rs2722372 [ dbSNP | Ensembl ].
VAR_032948
Natural variant2081C → R. Ref.4
Corresponds to variant rs10250905 [ dbSNP | Ensembl ].
VAR_022766
Natural variant2891I → T in a breast cancer sample; somatic mutation. Ref.6
VAR_036171
Natural variant4931I → T. Ref.4
Corresponds to variant rs56128139 [ dbSNP | Ensembl ].
VAR_061898

Sequences

Sequence LengthMass (Da)Tools
Q8N427 [UniParc].

Last modified July 5, 2005. Version 2.
Checksum: 161A5101E06EE5A7

FASTA58867,270
        10         20         30         40         50         60 
MASKKREVQL QTVINNQSLW DEMLQNKGLT VIDVYQAWCG PCRAMQPLFR KLKNELNEDE 

        70         80         90        100        110        120 
ILHFAVAEAD NIVTLQPFRD KCEPVFLFSV NGKIIEKIQG ANAPLVNKKV INLIDEERKI 

       130        140        150        160        170        180 
AAGEMARPQY PEIPLVDSDS EVSEESPCES VQELYSIAII KPDAVISKKV LEIKRKITKA 

       190        200        210        220        230        240 
GFIIEAEHKT VLTEEQVVNF YSRIADQCDF EEFVSFMTSG LSYILVVSQG SKHNPPSEET 

       250        260        270        280        290        300 
EPQTDTEPNE RSEDQPEVEA QVTPGMMKNK QDSLQEYLER QHLAQLCDIE EDAANVAKFM 

       310        320        330        340        350        360 
DAFFPDFKKM KSMKLEKTLA LLRPNLFHER KDDVLRIIKD EDFKILEQRQ VVLSEKEAQA 

       370        380        390        400        410        420 
LCKEYENEDY FNKLIENMTS GPSLALVLLR DNGLQYWKQL LGPRTVEEAI EYFPESLCAQ 

       430        440        450        460        470        480 
FAMDSLPVNQ LYGSDSLETA EREIQHFFPL QSTLGLIKPH ATSEQREQIL KIVKEAGFDL 

       490        500        510        520        530        540 
TQVKKMFLTP EQIEKIYPKV TGKDFYKDLL EMLSVGPSMV MILTKWNAVA EWRRLMGPTD 

       550        560        570        580 
PEEAKLLSPD SIRAQFGISK LKNIVHGASN AYEAKEVVNR LFEDPEEN 

« Hide

References

« Hide 'large scale' references
[1]"The human Nm23/nucleoside diphosphate kinases."
Lacombe M.-L.L., Milon L., Munier A., Mehus J.G., Lambeth D.O.
J. Bioenerg. Biomembr. 32:247-258(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells."
Sadek C.M., Damdimopoulos A.E., Pelto-Huikko M., Gustafsson J.-A., Spyrou G., Miranda-Vizuete A.
Genes Cells 6:1077-1090(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[3]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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], VARIANTS ARG-208 AND THR-493.
Tissue: Brain.
[5]"A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia."
Duriez B., Duquesnoy P., Escudier E., Bridoux A.-M., Escalier D., Rayet I., Marcos E., Vojtek A.-M., Bercher J.-F., Amselem S.
Proc. Natl. Acad. Sci. U.S.A. 104:3336-3341(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CILD6.
[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] THR-289.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF202051 mRNA. Translation: AAF20909.2.
AF305596 mRNA. Translation: AAN04258.1.
AC018634 Genomic DNA. No translation available.
BC036816 mRNA. Translation: AAH36816.1.
CCDSCCDS5452.1.
RefSeqNP_057700.3. NM_016616.4.
UniGeneHs.723454.

3D structure databases

ProteinModelPortalQ8N427.
SMRQ8N427. Positions 25-102, 156-220, 315-448, 450-586.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119465. 1 interaction.
STRING9606.ENSP00000199447.

PTM databases

PhosphoSiteQ8N427.

Polymorphism databases

DMDM68566210.

Proteomic databases

PaxDbQ8N427.
PRIDEQ8N427.

Protocols and materials databases

DNASU51314.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000199447; ENSP00000199447; ENSG00000086288.
ENST00000440017; ENSP00000397063; ENSG00000086288.
GeneID51314.
KEGGhsa:51314.
UCSCuc003tfn.3. human.

Organism-specific databases

CTD51314.
GeneCardsGC07P037889.
GeneReviewsNME8.
HGNCHGNC:16473. NME8.
HPACAB016416.
HPA019259.
MIM607421. gene.
610852. phenotype.
neXtProtNX_Q8N427.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA134925065.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0105.
HOGENOMHOG000111057.
HOVERGENHBG061844.
InParanoidQ8N427.
OMASLCAQFA.
OrthoDBEOG751NF7.
PhylomeDBQ8N427.
TreeFamTF106374.

Gene expression databases

ArrayExpressQ8N427.
BgeeQ8N427.
CleanExHS_TXNDC3.
GenevestigatorQ8N427.

Family and domain databases

Gene3D3.30.70.141. 3 hits.
3.40.30.10. 1 hit.
InterProIPR001564. Nucleoside_diP_kinase.
IPR012336. Thioredoxin-like_fold.
IPR017937. Thioredoxin_CS.
IPR013766. Thioredoxin_domain.
[Graphical view]
PfamPF00334. NDK. 3 hits.
PF00085. Thioredoxin. 1 hit.
[Graphical view]
SMARTSM00562. NDK. 2 hits.
[Graphical view]
SUPFAMSSF52833. SSF52833. 1 hit.
SSF54919. SSF54919. 3 hits.
PROSITEPS00194. THIOREDOXIN_1. 1 hit.
PS51352. THIOREDOXIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTXNDC3.
GenomeRNAi51314.
NextBio54669.
PROQ8N427.
SOURCESearch...

Entry information

Entry nameTXND3_HUMAN
AccessionPrimary (citable) accession number: Q8N427
Secondary accession number(s): Q9NZH1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: July 9, 2014
This is version 116 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 7

Human chromosome 7: entries, gene names and cross-references to MIM