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Q9NWK9

- BCD1_HUMAN

UniProt

Q9NWK9 - BCD1_HUMAN

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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

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

GO - Biological processi

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

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
Complete GO annotation...

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. 10 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.
GeneTreeiENSGT00390000017201.
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

        10         20         30         40         50
MEFAAENEGK SGGGLHSVAE GVRLSPEPGR EGVRDLAGAE EFGGGEEGTG
60 70 80 90 100
LTGIKEIGDG EEGSGQRPEE IPMDLTVVKQ EIIDWPGTEG RLAGQWVEQE
110 120 130 140 150
VEDRPEVKDE NAGVLEVKQE TDSSLVVKEA KVGEPEVKEE KVKEEVMDWS
160 170 180 190 200
EVKEEKDNLE IKQEEKFVGQ CIKEELMHGE CVKEEKDFLK KEIVDDTKVK
210 220 230 240 250
EEPPINHPVG CKRKLAMSRC ETCGTEEAKY RCPRCMRYSC SLPCVKKHKA
260 270 280 290 300
ELTCNGVRDK TAYISIQQFT EMNLLSDYRF LEDVARTADH ISRDAFLKRP
310 320 330 340 350
ISNKYMYFMK NRARRQGINL KLLPNGFTKR KENSTFFDKK KQQFCWHVKL
360 370 380 390 400
QFPQSQAEYI EKRVPDDKTI NEILKPYIDP EKSDPVIRQR LKAYIRSQTG
410 420 430 440 450
VQILMKIEYM QQNLVRYYEL DPYKSLLDNL RNKVIIEYPT LHVVLKGSNN
460 470
DMKVLHQVKS ESTKNVGNEN
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. 10 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.
GeneTreei ENSGT00390000017201.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 100 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