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)
End	37,900,397 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	19,881,964 bp
RNA expression pattern
	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; ; islet of Langerhans; ; lens;
	More reference expression data
	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
	51314
	73412
	ENSG00000086288
	ENSMUSG00000041138
	Q8N427
	Q715T0
	NM_016616
	NM_001167909; NM_181591
	NP_057700
	NP_001161381; NP_853622
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000086288 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041138 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "NME8 NME/NM23 family member 8 [Homo sapiens (human)]". Retrieved 3 June 2015.
^ 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.
^ 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.

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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000086288 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "NME8 NME/NM23 family member 8 [Homo sapiens (human)]". Retrieved 3 June 2015.

[pmid11737268-6] 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.

[pmid17360648-7] 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.

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v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

Function

Clinical significance

References

Further reading

External links