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Protein

Thioredoxin domain-containing protein 3

Gene

NME8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, 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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000086288.11
HGNCiHGNC:16473 NME8
MIMi607421 gene
neXtProtiNX_Q8N427

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

DisGeNETi51314
GeneReviewsiNME8
MalaCardsiNME8
MIMi610852 phenotype
OpenTargetsiENSG00000086288
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA134925065

Polymorphism and mutation databases

BioMutaiNME8
DMDMi68566210

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001201561 – 588Thioredoxin domain-containing protein 3Add BLAST588

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi39 ↔ 42Redox-activePROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ8N427
PaxDbiQ8N427
PeptideAtlasiQ8N427
PRIDEiQ8N427
ProteomicsDBi71868

PTM databases

iPTMnetiQ8N427
PhosphoSitePlusiQ8N427

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

BgeeiENSG00000086288 Expressed in 86 organ(s), highest expression level in blood
CleanExiHS_TXNDC3
ExpressionAtlasiQ8N427 baseline and differential
GenevisibleiQ8N427 HS

Organism-specific databases

HPAiCAB016416
HPA019259

Interactioni

Subunit structurei

Monomer.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119465, 7 interactors
IntActiQ8N427, 2 interactors
STRINGi9606.ENSP00000199447

Structurei

3D structure databases

ProteinModelPortaliQ8N427
SMRiQ8N427
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 119ThioredoxinPROSITE-ProRule annotationAdd BLAST118

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni157 – 257NDK 1Add BLAST101
Regioni315 – 455NDK 2Add BLAST141
Regioni456 – 588NDK 3Add BLAST133

Domaini

Sequence similaritiesi

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

Keywords - Domaini

Redox-active center, Repeat

Phylogenomic databases

eggNOGiKOG0888 Eukaryota
KOG0907 Eukaryota
COG0105 LUCA
GeneTreeiENSGT00760000119146
HOGENOMiHOG000111057
HOVERGENiHBG061844
InParanoidiQ8N427
KOiK19868
OMAiSLCAQFA
OrthoDBiEOG091G03O2
PhylomeDBiQ8N427
TreeFamiTF106374

Family and domain databases

Gene3Di3.30.70.141, 3 hits
InterProiView protein in InterPro
IPR034907 NDK-like_dom
IPR036850 NDK-like_dom_sf
IPR036249 Thioredoxin-like_sf
IPR017937 Thioredoxin_CS
IPR013766 Thioredoxin_domain
PfamiView protein in Pfam
PF00334 NDK, 3 hits
PF00085 Thioredoxin, 1 hit
SMARTiView protein in SMART
SM00562 NDK, 2 hits
SUPFAMiSSF52833 SSF52833, 1 hit
SSF54919 SSF54919, 3 hits
PROSITEiView protein in PROSITE
PS00194 THIOREDOXIN_1, 1 hit
PS51352 THIOREDOXIN_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JG62C9JG62_HUMAN
Thioredoxin domain-containing prote...
NME8
150Annotation score:
C9JIT0C9JIT0_HUMAN
Thioredoxin domain-containing prote...
NME8
115Annotation score:
F8WEA2F8WEA2_HUMAN
Thioredoxin domain-containing prote...
NME8
54Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03294843R → K. Corresponds to variant dbSNP:rs2722372EnsemblClinVar.1
Natural variantiVAR_022766208C → R1 PublicationCorresponds to variant dbSNP:rs10250905EnsemblClinVar.1
Natural variantiVAR_036171289I → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_061898493I → T1 PublicationCorresponds to variant dbSNP:rs56128139EnsemblClinVar.1

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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTXND3_HUMAN
AccessioniPrimary (citable) accession number: Q8N427
Secondary accession number(s): Q9NZH1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: September 12, 2018
This is version 152 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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