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Protein

Thioredoxin domain-containing protein 3

Gene

NME8

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

  • ATP binding Source: InterPro
  • microtubule binding Source: SYSCILIA_CCNET
  • nucleoside diphosphate kinase activity Source: GO_Central

GO - Biological processi

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 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:16473. NME8.

Subcellular locationi

GO - Cellular componenti

  • intracellular Source: GO_Central
  • outer dynein arm Source: SYSCILIA_CCNET
  • sperm cytoplasmic droplet Source: Ensembl
  • sperm principal piece Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 6 (CILD6)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:610852

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiNME8.
DMDMi68566210.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi39 ↔ 42Redox-activePROSITE-ProRule annotation

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

BgeeiQ8N427.
CleanExiHS_TXNDC3.
ExpressionAtlasiQ8N427. baseline and differential.
GenevisibleiQ8N427. HS.

Organism-specific databases

HPAiCAB016416.
HPA019259.

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

BioGridi119465. 2 interactions.
STRINGi9606.ENSP00000199447.

Structurei

3D structure databases

ProteinModelPortaliQ8N427.
SMRiQ8N427. Positions 25-102, 315-448, 450-586.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2 – 119118ThioredoxinPROSITE-ProRule annotationAdd
BLAST

Region

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

Domaini

Sequence similaritiesi

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

Keywords - Domaini

Redox-active center, Repeat

Phylogenomic databases

eggNOGiCOG0105.
GeneTreeiENSGT00760000119146.
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

        10         20         30         40         50
MASKKREVQL QTVINNQSLW DEMLQNKGLT VIDVYQAWCG PCRAMQPLFR
60 70 80 90 100
KLKNELNEDE ILHFAVAEAD NIVTLQPFRD KCEPVFLFSV NGKIIEKIQG
110 120 130 140 150
ANAPLVNKKV INLIDEERKI AAGEMARPQY PEIPLVDSDS EVSEESPCES
160 170 180 190 200
VQELYSIAII KPDAVISKKV LEIKRKITKA GFIIEAEHKT VLTEEQVVNF
210 220 230 240 250
YSRIADQCDF EEFVSFMTSG LSYILVVSQG SKHNPPSEET EPQTDTEPNE
260 270 280 290 300
RSEDQPEVEA QVTPGMMKNK QDSLQEYLER QHLAQLCDIE EDAANVAKFM
310 320 330 340 350
DAFFPDFKKM KSMKLEKTLA LLRPNLFHER KDDVLRIIKD EDFKILEQRQ
360 370 380 390 400
VVLSEKEAQA LCKEYENEDY FNKLIENMTS GPSLALVLLR DNGLQYWKQL
410 420 430 440 450
LGPRTVEEAI EYFPESLCAQ FAMDSLPVNQ LYGSDSLETA EREIQHFFPL
460 470 480 490 500
QSTLGLIKPH ATSEQREQIL KIVKEAGFDL TQVKKMFLTP EQIEKIYPKV
510 520 530 540 550
TGKDFYKDLL EMLSVGPSMV MILTKWNAVA EWRRLMGPTD PEEAKLLSPD
560 570 580
SIRAQFGISK LKNIVHGASN AYEAKEVVNR LFEDPEEN
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:
EMBLi
GenBanki
DDBJi
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.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ8N427.
SMRiQ8N427. Positions 25-102, 315-448, 450-586.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119465. 2 interactions.
STRINGi9606.ENSP00000199447.

PTM databases

PhosphoSiteiQ8N427.

Polymorphism and mutation databases

BioMutaiNME8.
DMDMi68566210.

Proteomic databases

PaxDbiQ8N427.
PRIDEiQ8N427.

Protocols and materials databases

DNASUi51314.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51314.
GeneCardsiGC07P037889.
GeneReviewsiNME8.
HGNCiHGNC:16473. NME8.
HPAiCAB016416.
HPA019259.
MIMi607421. gene.
610852. phenotype.
neXtProtiNX_Q8N427.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134925065.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0105.
GeneTreeiENSGT00760000119146.
HOGENOMiHOG000111057.
HOVERGENiHBG061844.
InParanoidiQ8N427.
OMAiSLCAQFA.
OrthoDBiEOG751NF7.
PhylomeDBiQ8N427.
TreeFamiTF106374.

Miscellaneous databases

GeneWikiiTXNDC3.
GenomeRNAii51314.
NextBioi54669.
PROiQ8N427.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N427.
CleanExiHS_TXNDC3.
ExpressionAtlasiQ8N427. baseline and differential.
GenevisibleiQ8N427. HS.

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]
ProtoNetiSearch...

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 22, 2015
This is version 125 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

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 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.