NME8

NME8
Identifiers
Aliases	NME8 , CILD6, NM23-H8, SPTRX2, TXNDC3, sptrx-2, HEL-S-99, NME/NM23 family member 8, DNAI8
External IDs	OMIM: 607421; MGI: 1920662; HomoloGene: 9593; GeneCards: NME8; OMA:NME8 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p14.1 Start 37,848,597 bp [1] End 37,900,397 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13 A2|13 7.0 cM Start 19,829,248 bp [2] End 19,881,964 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte testicle gonad monocyte right testis left testis sperm blood bone marrow bone marrow cells Top expressed in spermatid seminiferous tubule spermatocyte embryo Gonadal ridge bone marrow fossa ventricle of the heart islet of Langerhans lens More reference expression data BioGPS n/a
Gene ontology Molecular function microtubule binding nucleoside diphosphate kinase activity Cellular component cytoplasm sperm principal piece sperm cytoplasmic droplet outer dynein arm Biological process multicellular organism development flagellated sperm motility cellular response to reactive oxygen species cell differentiation nucleoside diphosphate phosphorylation spermatogenesis cell redox homeostasis cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 13: 19.83 – 19.88 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]}

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. Bibcode:2007PNAS..104.3336D. doi: 10.1073/pnas.0611405104 . PMC   1805560 . PMID   17360648.

Further reading

• Shi D, Nakamura T, Nakajima M, Dai J, Qin J, Ni H, Xu Y, Yao C, Wei J, Liu B, Ikegawa S, Jiang Q (2008). "Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis". Arthritis Research & Therapy . 10 (3): R54. doi: 10.1186/ar2423 . PMC   2483443 . PMID   18471322.
• Loughlin J, Meulenbelt I, Min J, Mustafa Z, Sinsheimer JS, Carr A, Slagboom PE (Feb 2007). "Genetic association analysis of RHOB and TXNDC3 in osteoarthritis". American Journal of Human Genetics. 80 (2): 383–6, author reply 386–7. doi:10.1086/511443. PMC   1785353 . PMID   17304710.
• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Molecular Medicine. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC   2896464 . PMID   20379614.
• Padma P, Hozumi A, Ogawa K, Inaba K (Sep 2001). "Molecular cloning and characterization of a thioredoxin/nucleoside diphosphate kinase related dynein intermediate chain from the ascidian, Ciona intestinalis". Gene. 275 (1): 177–83. doi:10.1016/S0378-1119(01)00661-8. PMID   11574167.
• Zintzaras E, Kitsios GD, Ziogas DC, Rodopoulou P, Karachalios T (Apr 2010). "Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system". American Journal of Epidemiology. 171 (8): 851–8. doi: 10.1093/aje/kwq016 . PMID   20237151.
• Lacombe ML, Milon L, Munier A, Mehus JG, Lambeth DO (Jun 2000). "The human Nm23/nucleoside diphosphate kinases". Journal of Bioenergetics and Biomembranes. 32 (3): 247–58. doi:10.1023/A:1005584929050. PMID   11768308. S2CID   20588606.
• Mahr S, Burmester GR, Hilke D, Göbel U, Grützkau A, Häupl T, Hauschild M, Koczan D, Krenn V, Neidel J, Perka C, Radbruch A, Thiesen HJ, Müller B (May 2006). "Cis- and trans-acting gene regulation is associated with osteoarthritis". American Journal of Human Genetics. 78 (5): 793–803. doi:10.1086/503849. PMC   1474041 . PMID   16642435.
• Desvignes T, Pontarotti P, Fauvel C, Bobe J (2009). "Nme protein family evolutionary history, a vertebrate perspective". BMC Evolutionary Biology. 9 (1): 256. Bibcode:2009BMCEE...9..256D. doi: 10.1186/1471-2148-9-256 . PMC   2777172 . PMID   19852809.

External links

• GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia

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