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O60393

- NOBOX_HUMAN

UniProt

O60393 - NOBOX_HUMAN

Protein

Homeobox protein NOBOX

Gene

NOBOX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 4 (05 May 2009)
      Previous versions | rss
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    Functioni

    Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5'-TAATTG-3', 5'-TAGTTG-3' and 5'-TAATTA-3' By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi272 – 36392HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. oogenesis Source: UniProtKB-KW
    2. ovarian follicle development Source: Ensembl
    3. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    4. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Oogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein NOBOX
    Gene namesi
    Name:NOBOX
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:22448. NOBOX.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Premature ovarian failure 5 (POF5) [MIM:611548]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti91 – 911G → W in POF5. 1 Publication
    Corresponds to variant rs77587352 [ dbSNP | Ensembl ].
    VAR_066013
    Natural varianti342 – 3421S → T in POF5. 1 Publication
    VAR_066014
    Natural varianti350 – 3501V → L in POF5. 1 Publication
    VAR_066015
    Natural varianti355 – 3551R → H in POF5. 1 Publication
    VAR_036636

    Keywords - Diseasei

    Disease mutation, Premature ovarian failure

    Organism-specific databases

    MIMi611548. phenotype.
    Orphaneti619. Primary ovarian failure.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 691691Homeobox protein NOBOXPRO_0000268865Add
    BLAST

    Proteomic databases

    PaxDbiO60393.
    PRIDEiO60393.

    PTM databases

    PhosphoSiteiO60393.

    Expressioni

    Tissue specificityi

    Expressed in ovaries, testes and pancreas. Expressed within all stages of the adult female germline, from primordial follicles through to MII oocytes.1 Publication

    Gene expression databases

    ArrayExpressiO60393.
    BgeeiO60393.
    CleanExiHS_NOBOX.
    GenevestigatoriO60393.

    Organism-specific databases

    HPAiHPA047639.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000223140.

    Structurei

    3D structure databases

    ProteinModelPortaliO60393.
    SMRiO60393. Positions 274-363.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi392 – 668277Pro-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG325494.
    HOGENOMiHOG000113810.
    HOVERGENiHBG082039.
    OMAiPFPGPFC.
    OrthoDBiEOG74J974.
    PhylomeDBiO60393.
    TreeFamiTF337576.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60393-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MALLLTLTSP DLEGTWDTRD KDGFKAQEGP PLAVPEFPVC GLYRIYGVCG    50
    SFSSFFIIRC SLCALETLKS PQHDPLEIPE QSLKLIPLVS GKRELTRGQK 100
    AGEKPLAAGP GEEELLRGSA PHAQDTQSEE LPPSCTISGE KKPPAVSGEA 150
    TGADAGRLCP PPRSRAPHKD RTLARSRPQT QGEDCSLPVG EVKIGKRSYS 200
    PAPGKQKKPN AMGLAPTSSP GAPNSARATH NPVPCGSGRG PCHLANLLST 250
    LAQSNQNRDH KQGPPEVTCQ IRKKTRTLYR SDQLEELEKI FQEDHYPDSD 300
    KRREIAQTVG VTPQRIMVKG AGSLVAGWSG GGPTIETLEL QSERSAVAWV 350
    WFQNRRAKWR KMEKLNGKES KDNPAAPGPA SSQCSSAAEI LPAVPMEPKP 400
    DPFPQESPLD TFPEPPMLLT SDQTLAPTQP SEGAQRVVTP PLFSPPPVRR 450
    ADLPFPLGPV HTPQLMPLLM DVAGSDSSHK DGPCGSWGTS ITLPPPCSYL 500
    EELEPQDYQQ SNQPGPFQFS QAPQPPLFQS PQPKLPYLPT FPFSMPSSLT 550
    LPPPEDSLFM FPCGPSGGTS QGYCPGASSG QILMQPPAGN IGTASWSDPC 600
    LPELPFPGPF CPQALGHPPG GDGYFPDLFP TPCPQALGRQ PSSALSWMPE 650
    GARPGTGPLL SKAKEEPPAA SLDQPSALEE ARGDDKNSHV P 691
    Length:691
    Mass (Da):73,906
    Last modified:May 5, 2009 - v4
    Checksum:i02ED17B02018A89C
    GO
    Isoform 2 (identifier: O60393-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         318-349: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:659
    Mass (Da):70,709
    Checksum:i7D9A27F0A837EB6D
    GO

    Sequence cautioni

    The sequence AAC12957.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti91 – 911G → W in POF5. 1 Publication
    Corresponds to variant rs77587352 [ dbSNP | Ensembl ].
    VAR_066013
    Natural varianti117 – 1171R → W Found in a patient with premature ovarian failure. 1 Publication
    Corresponds to variant rs7800847 [ dbSNP | Ensembl ].
    VAR_061266
    Natural varianti342 – 3421S → T in POF5. 1 Publication
    VAR_066014
    Natural varianti350 – 3501V → L in POF5. 1 Publication
    VAR_066015
    Natural varianti355 – 3551R → H in POF5. 1 Publication
    VAR_036636
    Natural varianti360 – 3601R → Q.1 Publication
    VAR_036637
    Natural varianti452 – 4521D → N.1 Publication
    Corresponds to variant rs112190116 [ dbSNP | Ensembl ].
    VAR_036638
    Natural varianti482 – 4821G → S.1 Publication
    Corresponds to variant rs2525702 [ dbSNP | Ensembl ].
    VAR_036639
    Natural varianti517 – 5171F → L.1 Publication
    Corresponds to variant rs2699503 [ dbSNP | Ensembl ].
    VAR_036640

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei318 – 34932Missing in isoform 2. 1 PublicationVSP_028796Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004534 Genomic DNA. Translation: AAC12957.1. Sequence problems.
    RefSeqiNP_001073882.3. NM_001080413.3. [O60393-1]
    UniGeneiHs.558628.

    Genome annotation databases

    EnsembliENST00000467773; ENSP00000419457; ENSG00000106410. [O60393-1]
    ENST00000483238; ENSP00000419565; ENSG00000106410. [O60393-2]
    GeneIDi135935.
    KEGGihsa:135935.
    UCSCiuc022aoj.1. human. [O60393-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004534 Genomic DNA. Translation: AAC12957.1 . Sequence problems.
    RefSeqi NP_001073882.3. NM_001080413.3. [O60393-1 ]
    UniGenei Hs.558628.

    3D structure databases

    ProteinModelPortali O60393.
    SMRi O60393. Positions 274-363.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000223140.

    PTM databases

    PhosphoSitei O60393.

    Proteomic databases

    PaxDbi O60393.
    PRIDEi O60393.

    Protocols and materials databases

    DNASUi 135935.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000467773 ; ENSP00000419457 ; ENSG00000106410 . [O60393-1 ]
    ENST00000483238 ; ENSP00000419565 ; ENSG00000106410 . [O60393-2 ]
    GeneIDi 135935.
    KEGGi hsa:135935.
    UCSCi uc022aoj.1. human. [O60393-1 ]

    Organism-specific databases

    CTDi 135935.
    GeneCardsi GC07M144094.
    HGNCi HGNC:22448. NOBOX.
    HPAi HPA047639.
    MIMi 610934. gene.
    611548. phenotype.
    neXtProti NX_O60393.
    Orphaneti 619. Primary ovarian failure.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG325494.
    HOGENOMi HOG000113810.
    HOVERGENi HBG082039.
    OMAi PFPGPFC.
    OrthoDBi EOG74J974.
    PhylomeDBi O60393.
    TreeFami TF337576.

    Miscellaneous databases

    GeneWikii NOBOX.
    GenomeRNAii 135935.
    NextBioi 83522.
    PROi O60393.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60393.
    Bgeei O60393.
    CleanExi HS_NOBOX.
    Genevestigatori O60393.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
    2. "cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles."
      Huntriss J., Hinkins M., Picton H.M.
      Mol. Hum. Reprod. 12:283-289(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 99-458 (ISOFORM 2), TISSUE SPECIFICITY.
    3. "NOBOX homeobox mutation causes premature ovarian failure."
      Qin Y., Choi Y., Zhao H., Simpson J.L., Chen Z.-J., Rajkovic A.
      Am. J. Hum. Genet. 81:576-581(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT POF5 HIS-355, VARIANTS GLN-360; ASN-452; SER-482 AND LEU-517.
    4. "Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort."
      Bouilly J., Bachelot A., Broutin I., Touraine P., Binart N.
      Hum. Mutat. 32:1108-1113(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS POF5 TRP-91; THR-342 AND LEU-350, VARIANT TRP-117.

    Entry informationi

    Entry nameiNOBOX_HUMAN
    AccessioniPrimary (citable) accession number: O60393
    Secondary accession number(s): A6NCD3, A8MZN5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 12, 2006
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 105 of the entry and version 4 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