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Q8N427

- TXND3_HUMAN

UniProt

Q8N427 - TXND3_HUMAN

Protein

Thioredoxin domain-containing protein 3

Gene

NME8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (05 Jul 2005)
      Previous versions | rss
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    Functioni

    Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds.

    GO - Molecular functioni

    1. ATP binding Source: InterPro
    2. nucleoside diphosphate kinase activity Source: InterPro

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. cell redox homeostasis Source: InterPro
    3. CTP biosynthetic process Source: InterPro
    4. GTP biosynthetic process Source: InterPro
    5. multicellular organismal development Source: UniProtKB-KW
    6. spermatogenesis Source: UniProtKB-KW
    7. UTP biosynthetic process Source: InterPro

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Spermatogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Thioredoxin domain-containing protein 3
    Alternative name(s):
    NM23-H8
    NME/NM23 family member 8
    Spermatid-specific thioredoxin-2
    Short name:
    Sptrx-2
    Gene namesi
    Name:NME8
    Synonyms:SPTRX2, TXNDC3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:16473. NME8.

    Subcellular locationi

    Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 6 (CILD6) [MIM:610852]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi610852. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA134925065.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 588588Thioredoxin domain-containing protein 3PRO_0000120156Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi39 ↔ 42Redox-activePROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    PaxDbiQ8N427.
    PRIDEiQ8N427.

    PTM databases

    PhosphoSiteiQ8N427.

    Expressioni

    Tissue specificityi

    Testis-specific. Expressed only in primary spermatocytes and round spermatids.1 Publication

    Developmental stagei

    Restricted to spermiogenesis, starting at the pachytene spermatocyte level and peaking at the round and elongating spermatid stage.

    Gene expression databases

    ArrayExpressiQ8N427.
    BgeeiQ8N427.
    CleanExiHS_TXNDC3.
    GenevestigatoriQ8N427.

    Organism-specific databases

    HPAiCAB016416.
    HPA019259.

    Interactioni

    Subunit structurei

    Monomer.

    Protein-protein interaction databases

    BioGridi119465. 1 interaction.
    STRINGi9606.ENSP00000199447.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N427.
    SMRiQ8N427. Positions 25-102, 156-220, 315-448, 450-586.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini2 – 119118ThioredoxinPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni157 – 257101NDK 1Add
    BLAST
    Regioni315 – 455141NDK 2Add
    BLAST
    Regioni456 – 588133NDK 3Add
    BLAST

    Domaini

    Sequence similaritiesi

    In the C-terminal section; belongs to the NDK family.Curated
    Contains 1 thioredoxin domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Redox-active center, Repeat

    Phylogenomic databases

    eggNOGiCOG0105.
    HOGENOMiHOG000111057.
    HOVERGENiHBG061844.
    InParanoidiQ8N427.
    OMAiSLCAQFA.
    OrthoDBiEOG751NF7.
    PhylomeDBiQ8N427.
    TreeFamiTF106374.

    Family and domain databases

    Gene3Di3.30.70.141. 3 hits.
    3.40.30.10. 1 hit.
    InterProiIPR001564. Nucleoside_diP_kinase.
    IPR012336. Thioredoxin-like_fold.
    IPR017937. Thioredoxin_CS.
    IPR013766. Thioredoxin_domain.
    [Graphical view]
    PfamiPF00334. NDK. 3 hits.
    PF00085. Thioredoxin. 1 hit.
    [Graphical view]
    SMARTiSM00562. NDK. 2 hits.
    [Graphical view]
    SUPFAMiSSF52833. SSF52833. 1 hit.
    SSF54919. SSF54919. 3 hits.
    PROSITEiPS00194. THIOREDOXIN_1. 1 hit.
    PS51352. THIOREDOXIN_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8N427-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASKKREVQL QTVINNQSLW DEMLQNKGLT VIDVYQAWCG PCRAMQPLFR    50
    KLKNELNEDE ILHFAVAEAD NIVTLQPFRD KCEPVFLFSV NGKIIEKIQG 100
    ANAPLVNKKV INLIDEERKI AAGEMARPQY PEIPLVDSDS EVSEESPCES 150
    VQELYSIAII KPDAVISKKV LEIKRKITKA GFIIEAEHKT VLTEEQVVNF 200
    YSRIADQCDF EEFVSFMTSG LSYILVVSQG SKHNPPSEET EPQTDTEPNE 250
    RSEDQPEVEA QVTPGMMKNK QDSLQEYLER QHLAQLCDIE EDAANVAKFM 300
    DAFFPDFKKM KSMKLEKTLA LLRPNLFHER KDDVLRIIKD EDFKILEQRQ 350
    VVLSEKEAQA LCKEYENEDY FNKLIENMTS GPSLALVLLR DNGLQYWKQL 400
    LGPRTVEEAI EYFPESLCAQ FAMDSLPVNQ LYGSDSLETA EREIQHFFPL 450
    QSTLGLIKPH ATSEQREQIL KIVKEAGFDL TQVKKMFLTP EQIEKIYPKV 500
    TGKDFYKDLL EMLSVGPSMV MILTKWNAVA EWRRLMGPTD PEEAKLLSPD 550
    SIRAQFGISK LKNIVHGASN AYEAKEVVNR LFEDPEEN 588
    Length:588
    Mass (Da):67,270
    Last modified:July 5, 2005 - v2
    Checksum:i161A5101E06EE5A7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti43 – 431R → K.
    Corresponds to variant rs2722372 [ dbSNP | Ensembl ].
    VAR_032948
    Natural varianti208 – 2081C → R.1 Publication
    Corresponds to variant rs10250905 [ dbSNP | Ensembl ].
    VAR_022766
    Natural varianti289 – 2891I → T in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036171
    Natural varianti493 – 4931I → T.1 Publication
    Corresponds to variant rs56128139 [ dbSNP | Ensembl ].
    VAR_061898

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF202051 mRNA. Translation: AAF20909.2.
    AF305596 mRNA. Translation: AAN04258.1.
    AC018634 Genomic DNA. No translation available.
    BC036816 mRNA. Translation: AAH36816.1.
    CCDSiCCDS5452.1.
    RefSeqiNP_057700.3. NM_016616.4.
    UniGeneiHs.723454.

    Genome annotation databases

    EnsembliENST00000199447; ENSP00000199447; ENSG00000086288.
    ENST00000440017; ENSP00000397063; ENSG00000086288.
    GeneIDi51314.
    KEGGihsa:51314.
    UCSCiuc003tfn.3. human.

    Polymorphism databases

    DMDMi68566210.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF202051 mRNA. Translation: AAF20909.2 .
    AF305596 mRNA. Translation: AAN04258.1 .
    AC018634 Genomic DNA. No translation available.
    BC036816 mRNA. Translation: AAH36816.1 .
    CCDSi CCDS5452.1.
    RefSeqi NP_057700.3. NM_016616.4.
    UniGenei Hs.723454.

    3D structure databases

    ProteinModelPortali Q8N427.
    SMRi Q8N427. Positions 25-102, 156-220, 315-448, 450-586.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119465. 1 interaction.
    STRINGi 9606.ENSP00000199447.

    PTM databases

    PhosphoSitei Q8N427.

    Polymorphism databases

    DMDMi 68566210.

    Proteomic databases

    PaxDbi Q8N427.
    PRIDEi Q8N427.

    Protocols and materials databases

    DNASUi 51314.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000199447 ; ENSP00000199447 ; ENSG00000086288 .
    ENST00000440017 ; ENSP00000397063 ; ENSG00000086288 .
    GeneIDi 51314.
    KEGGi hsa:51314.
    UCSCi uc003tfn.3. human.

    Organism-specific databases

    CTDi 51314.
    GeneCardsi GC07P037889.
    GeneReviewsi NME8.
    HGNCi HGNC:16473. NME8.
    HPAi CAB016416.
    HPA019259.
    MIMi 607421. gene.
    610852. phenotype.
    neXtProti NX_Q8N427.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA134925065.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0105.
    HOGENOMi HOG000111057.
    HOVERGENi HBG061844.
    InParanoidi Q8N427.
    OMAi SLCAQFA.
    OrthoDBi EOG751NF7.
    PhylomeDBi Q8N427.
    TreeFami TF106374.

    Miscellaneous databases

    GeneWikii TXNDC3.
    GenomeRNAii 51314.
    NextBioi 54669.
    PROi Q8N427.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N427.
    Bgeei Q8N427.
    CleanExi HS_TXNDC3.
    Genevestigatori Q8N427.

    Family and domain databases

    Gene3Di 3.30.70.141. 3 hits.
    3.40.30.10. 1 hit.
    InterProi IPR001564. Nucleoside_diP_kinase.
    IPR012336. Thioredoxin-like_fold.
    IPR017937. Thioredoxin_CS.
    IPR013766. Thioredoxin_domain.
    [Graphical view ]
    Pfami PF00334. NDK. 3 hits.
    PF00085. Thioredoxin. 1 hit.
    [Graphical view ]
    SMARTi SM00562. NDK. 2 hits.
    [Graphical view ]
    SUPFAMi SSF52833. SSF52833. 1 hit.
    SSF54919. SSF54919. 3 hits.
    PROSITEi PS00194. THIOREDOXIN_1. 1 hit.
    PS51352. THIOREDOXIN_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells."
      Sadek C.M., Damdimopoulos A.E., Pelto-Huikko M., Gustafsson J.-A., Spyrou G., Miranda-Vizuete A.
      Genes Cells 6:1077-1090(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ARG-208 AND THR-493.
      Tissue: Brain.
    5. "A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia."
      Duriez B., Duquesnoy P., Escudier E., Bridoux A.-M., Escalier D., Rayet I., Marcos E., Vojtek A.-M., Bercher J.-F., Amselem S.
      Proc. Natl. Acad. Sci. U.S.A. 104:3336-3341(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CILD6.
    6. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-289.

    Entry informationi

    Entry nameiTXND3_HUMAN
    AccessioniPrimary (citable) accession number: Q8N427
    Secondary accession number(s): Q9NZH1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: July 5, 2005
    Last modified: October 1, 2014
    This is version 117 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3