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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NME8

Contents

Function

Clinical significance

References

Further reading

External links