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Q8N427

- TXND3_HUMAN

UniProt

Q8N427 - TXND3_HUMAN

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Protein
Thioredoxin domain-containing protein 3
Gene
NME8, SPTRX2, TXNDC3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. ATP binding Source: InterPro
  2. nucleoside diphosphate kinase activity Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. CTP biosynthetic process Source: InterPro
  2. GTP biosynthetic process Source: InterPro
  3. UTP biosynthetic process Source: InterPro
  4. cell differentiation Source: UniProtKB-KW
  5. cell redox homeostasis Source: InterPro
  6. multicellular organismal development Source: UniProtKB-KW
  7. spermatogenesis Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:NME8
Synonyms:SPTRX2, TXNDC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:16473. NME8.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MIMi610852. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134925065.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 588588Thioredoxin domain-containing protein 3
PRO_0000120156Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi39 ↔ 42Redox-active By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ8N427.
PRIDEiQ8N427.

PTM databases

PhosphoSiteiQ8N427.

Expressioni

Tissue specificityi

Testis-specific. Expressed only in primary spermatocytes and round spermatids.1 Publication

Developmental stagei

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

Gene expression databases

ArrayExpressiQ8N427.
BgeeiQ8N427.
CleanExiHS_TXNDC3.
GenevestigatoriQ8N427.

Organism-specific databases

HPAiCAB016416.
HPA019259.

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

BioGridi119465. 1 interaction.
STRINGi9606.ENSP00000199447.

Structurei

3D structure databases

ProteinModelPortaliQ8N427.
SMRiQ8N427. Positions 25-102, 156-220, 315-448, 450-586.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2 – 119118Thioredoxin
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni157 – 257101NDK 1
Add
BLAST
Regioni315 – 455141NDK 2
Add
BLAST
Regioni456 – 588133NDK 3
Add
BLAST

Domaini

Sequence similaritiesi

In the C-terminal section; belongs to the NDK family.
Contains 1 thioredoxin domain.

Keywords - Domaini

Redox-active center, Repeat

Phylogenomic databases

eggNOGiCOG0105.
HOGENOMiHOG000111057.
HOVERGENiHBG061844.
InParanoidiQ8N427.
OMAiSLCAQFA.
OrthoDBiEOG751NF7.
PhylomeDBiQ8N427.
TreeFamiTF106374.

Family and domain databases

Gene3Di3.30.70.141. 3 hits.
3.40.30.10. 1 hit.
InterProiIPR001564. Nucleoside_diP_kinase.
IPR012336. Thioredoxin-like_fold.
IPR017937. Thioredoxin_CS.
IPR013766. Thioredoxin_domain.
[Graphical view]
PfamiPF00334. NDK. 3 hits.
PF00085. Thioredoxin. 1 hit.
[Graphical view]
SMARTiSM00562. NDK. 2 hits.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
SSF54919. SSF54919. 3 hits.
PROSITEiPS00194. THIOREDOXIN_1. 1 hit.
PS51352. THIOREDOXIN_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8N427-1 [UniParc]FASTAAdd to Basket

« Hide

MASKKREVQL QTVINNQSLW DEMLQNKGLT VIDVYQAWCG PCRAMQPLFR    50
KLKNELNEDE ILHFAVAEAD NIVTLQPFRD KCEPVFLFSV NGKIIEKIQG 100
ANAPLVNKKV INLIDEERKI AAGEMARPQY PEIPLVDSDS EVSEESPCES 150
VQELYSIAII KPDAVISKKV LEIKRKITKA GFIIEAEHKT VLTEEQVVNF 200
YSRIADQCDF EEFVSFMTSG LSYILVVSQG SKHNPPSEET EPQTDTEPNE 250
RSEDQPEVEA QVTPGMMKNK QDSLQEYLER QHLAQLCDIE EDAANVAKFM 300
DAFFPDFKKM KSMKLEKTLA LLRPNLFHER KDDVLRIIKD EDFKILEQRQ 350
VVLSEKEAQA LCKEYENEDY FNKLIENMTS GPSLALVLLR DNGLQYWKQL 400
LGPRTVEEAI EYFPESLCAQ FAMDSLPVNQ LYGSDSLETA EREIQHFFPL 450
QSTLGLIKPH ATSEQREQIL KIVKEAGFDL TQVKKMFLTP EQIEKIYPKV 500
TGKDFYKDLL EMLSVGPSMV MILTKWNAVA EWRRLMGPTD PEEAKLLSPD 550
SIRAQFGISK LKNIVHGASN AYEAKEVVNR LFEDPEEN 588
Length:588
Mass (Da):67,270
Last modified:July 5, 2005 - v2
Checksum:i161A5101E06EE5A7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431R → K.
Corresponds to variant rs2722372 [ dbSNP | Ensembl ].
VAR_032948
Natural varianti208 – 2081C → R.1 Publication
Corresponds to variant rs10250905 [ dbSNP | Ensembl ].
VAR_022766
Natural varianti289 – 2891I → T in a breast cancer sample; somatic mutation. 1 Publication
VAR_036171
Natural varianti493 – 4931I → T.1 Publication
Corresponds to variant rs56128139 [ dbSNP | Ensembl ].
VAR_061898

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF202051 mRNA. Translation: AAF20909.2.
AF305596 mRNA. Translation: AAN04258.1.
AC018634 Genomic DNA. No translation available.
BC036816 mRNA. Translation: AAH36816.1.
CCDSiCCDS5452.1.
RefSeqiNP_057700.3. NM_016616.4.
UniGeneiHs.723454.

Genome annotation databases

EnsembliENST00000199447; ENSP00000199447; ENSG00000086288.
ENST00000440017; ENSP00000397063; ENSG00000086288.
GeneIDi51314.
KEGGihsa:51314.
UCSCiuc003tfn.3. human.

Polymorphism databases

DMDMi68566210.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF202051 mRNA. Translation: AAF20909.2 .
AF305596 mRNA. Translation: AAN04258.1 .
AC018634 Genomic DNA. No translation available.
BC036816 mRNA. Translation: AAH36816.1 .
CCDSi CCDS5452.1.
RefSeqi NP_057700.3. NM_016616.4.
UniGenei Hs.723454.

3D structure databases

ProteinModelPortali Q8N427.
SMRi Q8N427. Positions 25-102, 156-220, 315-448, 450-586.
ModBasei Search...

Protein-protein interaction databases

BioGridi 119465. 1 interaction.
STRINGi 9606.ENSP00000199447.

PTM databases

PhosphoSitei Q8N427.

Polymorphism databases

DMDMi 68566210.

Proteomic databases

PaxDbi Q8N427.
PRIDEi Q8N427.

Protocols and materials databases

DNASUi 51314.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000199447 ; ENSP00000199447 ; ENSG00000086288 .
ENST00000440017 ; ENSP00000397063 ; ENSG00000086288 .
GeneIDi 51314.
KEGGi hsa:51314.
UCSCi uc003tfn.3. human.

Organism-specific databases

CTDi 51314.
GeneCardsi GC07P037889.
GeneReviewsi NME8.
HGNCi HGNC:16473. NME8.
HPAi CAB016416.
HPA019259.
MIMi 607421. gene.
610852. phenotype.
neXtProti NX_Q8N427.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA134925065.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0105.
HOGENOMi HOG000111057.
HOVERGENi HBG061844.
InParanoidi Q8N427.
OMAi SLCAQFA.
OrthoDBi EOG751NF7.
PhylomeDBi Q8N427.
TreeFami TF106374.

Miscellaneous databases

GeneWikii TXNDC3.
GenomeRNAii 51314.
NextBioi 54669.
PROi Q8N427.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8N427.
Bgeei Q8N427.
CleanExi HS_TXNDC3.
Genevestigatori Q8N427.

Family and domain databases

Gene3Di 3.30.70.141. 3 hits.
3.40.30.10. 1 hit.
InterProi IPR001564. Nucleoside_diP_kinase.
IPR012336. Thioredoxin-like_fold.
IPR017937. Thioredoxin_CS.
IPR013766. Thioredoxin_domain.
[Graphical view ]
Pfami PF00334. NDK. 3 hits.
PF00085. Thioredoxin. 1 hit.
[Graphical view ]
SMARTi SM00562. NDK. 2 hits.
[Graphical view ]
SUPFAMi SSF52833. SSF52833. 1 hit.
SSF54919. SSF54919. 3 hits.
PROSITEi PS00194. THIOREDOXIN_1. 1 hit.
PS51352. THIOREDOXIN_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-289.

Entry informationi

Entry nameiTXND3_HUMAN
AccessioniPrimary (citable) accession number: Q8N427
Secondary accession number(s): Q9NZH1
Entry historyi
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 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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