NME8

Thioredoxin domain-containing protein 3 (TXNDC3), also known as spermatid-specific thioredoxin-2 (Sptrx-2), is a protein that in humans is encoded by the NME8 gene (also known as the TXNDC3 gene) on chromosome 7.[5][6]

NME8
Identifiers
AliasesNME8, CILD6, NM23-H8, SPTRX2, TXNDC3, sptrx-2, HEL-S-99, NME/NM23 family member 8
External IDsOMIM: 607421 MGI: 1920662 HomoloGene: 9593 GeneCards: NME8
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7p14.1Start37,848,597 bp[1]
End37,900,397 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

51314

73412

Ensembl

ENSG00000086288

ENSMUSG00000041138

UniProt

Q8N427

Q715T0

RefSeq (mRNA)

NM_016616

NM_001167909
NM_181591

RefSeq (protein)

NP_057700

NP_001161381
NP_853622

Location (UCSC)Chr 7: 37.85 – 37.9 MbChr 13: 19.65 – 19.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function.[5]

Clinical significance

Mutations in the TXNDC3 gene are associated with primary ciliary dyskinesia.[7]

References
  1. GRCh38: Ensembl release 89: ENSG00000086288 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000041138 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "NME8 NME/NM23 family member 8 [Homo sapiens (human)]". Retrieved 3 June 2015.
  6. Sadek CM, Damdimopoulos AE, Pelto-Huikko M, Gustafsson JA, Spyrou G, Miranda-Vizuete A (Dec 2001). "Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells". Genes to Cells. 6 (12): 1077–90. doi:10.1046/j.1365-2443.2001.00484.x. hdl:10261/47418. PMID 11737268. S2CID 20869820.
  7. Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S (Feb 2007). "A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia". Proceedings of the National Academy of Sciences of the United States of America. 104 (9): 3336–41. doi:10.1073/pnas.0611405104. PMC 1805560. PMID 17360648.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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