NME8 (original) (raw)

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Protein-coding gene in the species Homo sapiens

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)Chromosome 7 (human)Chr.Chromosome 7 (human)[1]Chromosome 7 (human)Genomic location for NME8Genomic location for NME8Band7p14.1Start37,848,597 bp[1]End37,900,397 bp[1]
Gene location (Mouse)Chromosome 13 (mouse)Chr.Chromosome 13 (mouse)[2]Chromosome 13 (mouse)Genomic location for NME8Genomic location for NME8Band13 A2|13 7.0 cMStart19,829,248 bp[2]End19,881,964 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed ingranulocytetesticlegonadmonocyteright testisleft testisspermbloodbone marrowbone marrow cellsTop expressed inspermatidseminiferous tubulespermatocyteembryoGonadal ridgebone marrowfossaventricle of the heartislet of LangerhanslensMore reference expression dataBioGPSn/a
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez5131473412EnsemblENSG00000086288ENSMUSG00000041138UniProtQ8N427Q715T0RefSeq (mRNA)NM_016616NM_001167909NM_181591RefSeq (protein)NP_057700NP_001161381NP_853622Location (UCSC)Chr 7: 37.85 – 37.9 MbChr 13: 19.83 – 19.88 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/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]

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

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000086288 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.

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