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Q9NWK9

- BCD1_HUMAN

UniProt

Q9NWK9 - BCD1_HUMAN

Protein

Box C/D snoRNA protein 1

Gene

ZNHIT6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri220 – 25435HIT-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. enzyme binding Source: UniProt
    2. identical protein binding Source: BHF-UCL
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: IntAct

    GO - Biological processi

    1. box C/D snoRNP assembly Source: BHF-UCL
    2. ribosome biogenesis Source: UniProtKB-KW

    Keywords - Biological processi

    Ribosome biogenesis

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Box C/D snoRNA protein 1
    Alternative name(s):
    Serologically defined breast cancer antigen NY-BR-75
    Zinc finger HIT domain-containing protein 6
    Gene namesi
    Name:ZNHIT6
    Synonyms:BCD1, C1orf181
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:26089. ZNHIT6.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. pre-snoRNP complex Source: BHF-UCL

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162410929.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 470470Box C/D snoRNA protein 1PRO_0000280239Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei25 – 251Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9NWK9.
    PaxDbiQ9NWK9.
    PRIDEiQ9NWK9.

    PTM databases

    PhosphoSiteiQ9NWK9.

    Expressioni

    Gene expression databases

    BgeeiQ9NWK9.
    CleanExiHS_ZNHIT6.
    GenevestigatoriQ9NWK9.

    Organism-specific databases

    HPAiHPA018132.
    HPA050253.

    Interactioni

    Subunit structurei

    Interacts with FBL, NHP2L1, NOP58, NUFIP1, RUVBL1, RUVBL2 and TAF9.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NUFIP1Q9UHK02EBI-2563515,EBI-2563549

    Protein-protein interaction databases

    BioGridi120099. 6 interactions.
    IntActiQ9NWK9. 8 interactions.
    MINTiMINT-1186429.
    STRINGi9606.ENSP00000359606.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NWK9.
    SMRiQ9NWK9. Positions 212-259.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi40 – 202163Glu-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the BCD1 family.Curated
    Contains 1 HIT-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri220 – 25435HIT-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG279669.
    HOGENOMiHOG000054208.
    InParanoidiQ9NWK9.
    OMAiCKRKLAM.
    OrthoDBiEOG7HXCRK.
    PhylomeDBiQ9NWK9.
    TreeFamiTF323923.

    Family and domain databases

    InterProiIPR007529. Znf_HIT.
    [Graphical view]
    PfamiPF04438. zf-HIT. 1 hit.
    [Graphical view]
    PROSITEiPS51083. ZF_HIT. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NWK9-1) [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

    MEFAAENEGK SGGGLHSVAE GVRLSPEPGR EGVRDLAGAE EFGGGEEGTG    50
    LTGIKEIGDG EEGSGQRPEE IPMDLTVVKQ EIIDWPGTEG RLAGQWVEQE 100
    VEDRPEVKDE NAGVLEVKQE TDSSLVVKEA KVGEPEVKEE KVKEEVMDWS 150
    EVKEEKDNLE IKQEEKFVGQ CIKEELMHGE CVKEEKDFLK KEIVDDTKVK 200
    EEPPINHPVG CKRKLAMSRC ETCGTEEAKY RCPRCMRYSC SLPCVKKHKA 250
    ELTCNGVRDK TAYISIQQFT EMNLLSDYRF LEDVARTADH ISRDAFLKRP 300
    ISNKYMYFMK NRARRQGINL KLLPNGFTKR KENSTFFDKK KQQFCWHVKL 350
    QFPQSQAEYI EKRVPDDKTI NEILKPYIDP EKSDPVIRQR LKAYIRSQTG 400
    VQILMKIEYM QQNLVRYYEL DPYKSLLDNL RNKVIIEYPT LHVVLKGSNN 450
    DMKVLHQVKS ESTKNVGNEN 470
    Length:470
    Mass (Da):53,918
    Last modified:October 1, 2000 - v1
    Checksum:i34A50A1C62E4F4E8
    GO
    Isoform 2 (identifier: Q9NWK9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         78-116: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:431
    Mass (Da):49,486
    Checksum:i23DBA0CADB4911C6
    GO

    Sequence cautioni

    The sequence AAG48263.1 differs from that shown. Reason: Frameshift at positions 365, 412, 416, 419 and 432.
    The sequence BAA91349.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti144 – 1441E → G in CAC09440. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91G → R.
    Corresponds to variant rs17399721 [ dbSNP | Ensembl ].
    VAR_031096
    Natural varianti455 – 4551L → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035721

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei78 – 11639Missing in isoform 2. 1 PublicationVSP_042946Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000736 mRNA. Translation: BAA91349.1. Different initiation.
    AK000767 mRNA. Translation: BAA91371.1.
    AK298149 mRNA. Translation: BAG60425.1.
    AK314566 mRNA. Translation: BAG37148.1.
    AL442074 mRNA. Translation: CAC09440.1.
    BX323040, AC092807, AC099561 Genomic DNA. Translation: CAH73976.1.
    CH471097 Genomic DNA. Translation: EAW73194.1.
    CH471097 Genomic DNA. Translation: EAW73195.1.
    BC026236 mRNA. Translation: AAH26236.1.
    BC110898 mRNA. Translation: AAI10899.1.
    AF308296 mRNA. Translation: AAG48263.1. Frameshift.
    CCDSiCCDS53338.1. [Q9NWK9-2]
    CCDS707.1. [Q9NWK9-1]
    RefSeqiNP_001164141.1. NM_001170670.1. [Q9NWK9-2]
    NP_060423.3. NM_017953.3. [Q9NWK9-1]
    UniGeneiHs.5111.

    Genome annotation databases

    EnsembliENST00000370574; ENSP00000359606; ENSG00000117174. [Q9NWK9-1]
    ENST00000431532; ENSP00000414344; ENSG00000117174. [Q9NWK9-2]
    GeneIDi54680.
    KEGGihsa:54680.
    UCSCiuc001dlh.3. human. [Q9NWK9-1]
    uc010osc.2. human. [Q9NWK9-2]

    Polymorphism databases

    DMDMi74753026.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000736 mRNA. Translation: BAA91349.1 . Different initiation.
    AK000767 mRNA. Translation: BAA91371.1 .
    AK298149 mRNA. Translation: BAG60425.1 .
    AK314566 mRNA. Translation: BAG37148.1 .
    AL442074 mRNA. Translation: CAC09440.1 .
    BX323040 , AC092807 , AC099561 Genomic DNA. Translation: CAH73976.1 .
    CH471097 Genomic DNA. Translation: EAW73194.1 .
    CH471097 Genomic DNA. Translation: EAW73195.1 .
    BC026236 mRNA. Translation: AAH26236.1 .
    BC110898 mRNA. Translation: AAI10899.1 .
    AF308296 mRNA. Translation: AAG48263.1 . Frameshift.
    CCDSi CCDS53338.1. [Q9NWK9-2 ]
    CCDS707.1. [Q9NWK9-1 ]
    RefSeqi NP_001164141.1. NM_001170670.1. [Q9NWK9-2 ]
    NP_060423.3. NM_017953.3. [Q9NWK9-1 ]
    UniGenei Hs.5111.

    3D structure databases

    ProteinModelPortali Q9NWK9.
    SMRi Q9NWK9. Positions 212-259.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120099. 6 interactions.
    IntActi Q9NWK9. 8 interactions.
    MINTi MINT-1186429.
    STRINGi 9606.ENSP00000359606.

    PTM databases

    PhosphoSitei Q9NWK9.

    Polymorphism databases

    DMDMi 74753026.

    Proteomic databases

    MaxQBi Q9NWK9.
    PaxDbi Q9NWK9.
    PRIDEi Q9NWK9.

    Protocols and materials databases

    DNASUi 54680.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370574 ; ENSP00000359606 ; ENSG00000117174 . [Q9NWK9-1 ]
    ENST00000431532 ; ENSP00000414344 ; ENSG00000117174 . [Q9NWK9-2 ]
    GeneIDi 54680.
    KEGGi hsa:54680.
    UCSCi uc001dlh.3. human. [Q9NWK9-1 ]
    uc010osc.2. human. [Q9NWK9-2 ]

    Organism-specific databases

    CTDi 54680.
    GeneCardsi GC01M086118.
    H-InvDB HIX0000749.
    HGNCi HGNC:26089. ZNHIT6.
    HPAi HPA018132.
    HPA050253.
    neXtProti NX_Q9NWK9.
    PharmGKBi PA162410929.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG279669.
    HOGENOMi HOG000054208.
    InParanoidi Q9NWK9.
    OMAi CKRKLAM.
    OrthoDBi EOG7HXCRK.
    PhylomeDBi Q9NWK9.
    TreeFami TF323923.

    Miscellaneous databases

    ChiTaRSi ZNHIT6. human.
    GenomeRNAii 54680.
    NextBioi 57240.
    PROi Q9NWK9.

    Gene expression databases

    Bgeei Q9NWK9.
    CleanExi HS_ZNHIT6.
    Genevestigatori Q9NWK9.

    Family and domain databases

    InterProi IPR007529. Znf_HIT.
    [Graphical view ]
    Pfami PF04438. zf-HIT. 1 hit.
    [Graphical view ]
    PROSITEi PS51083. ZF_HIT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Hepatoma and Testis.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1).
      Tissue: Testis.
    6. "Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression."
      Scanlan M.J., Gout I., Gordon C.M., Williamson B., Stockert E., Gure A.O., Jaeger D., Chen Y.-T., Mackay A., O'Hare M.J., Old L.J.
      Cancer Immun. 1:4-4(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 69-470 (ISOFORM 1).
      Tissue: Mammary gland.
    7. "A dynamic scaffold of pre-snoRNP factors facilitates human box C/D snoRNP assembly."
      McKeegan K.S., Debieux C.M., Boulon S., Bertrand E., Watkins N.J.
      Mol. Cell. Biol. 27:6782-6793(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH FBL; NHP2L1; NOP58; NUFIP1; RUVBL1; RUVBL2 AND TAF9.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-25, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-455.

    Entry informationi

    Entry nameiBCD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NWK9
    Secondary accession number(s): B2RBA1
    , B4DP13, D3DT20, Q9H278, Q9H3X3, Q9NWN0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 99 of the entry and version 1 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 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3