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Q9NWK9 (BCD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ZNHIT6
Synonyms:BCD1, C1orf181
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length470 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis. Ref.7

Subunit structure

Interacts with FBL, NHP2L1, NOP58, NUFIP1, RUVBL1, RUVBL2 and TAF9. Ref.7

Sequence similarities

Belongs to the BCD1 family.

Contains 1 HIT-type zinc finger.

Sequence caution

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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NUFIP1Q9UHK02EBI-2563515,EBI-2563549

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NWK9-1)

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.
Isoform 2 (identifier: Q9NWK9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     78-116: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 470470Box C/D snoRNA protein 1
PRO_0000280239

Regions

Zinc finger220 – 25435HIT-type
Compositional bias40 – 202163Glu-rich

Amino acid modifications

Modified residue251Phosphoserine Ref.8

Natural variations

Alternative sequence78 – 11639Missing in isoform 2.
VSP_042946
Natural variant91G → R.
Corresponds to variant rs17399721 [ dbSNP | Ensembl ].
VAR_031096
Natural variant4551L → H in a colorectal cancer sample; somatic mutation. Ref.9
VAR_035721

Experimental info

Sequence conflict1441E → G in CAC09440. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 34A50A1C62E4F4E8

FASTA47053,918
        10         20         30         40         50         60 
MEFAAENEGK SGGGLHSVAE GVRLSPEPGR EGVRDLAGAE EFGGGEEGTG LTGIKEIGDG 

        70         80         90        100        110        120 
EEGSGQRPEE IPMDLTVVKQ EIIDWPGTEG RLAGQWVEQE VEDRPEVKDE NAGVLEVKQE 

       130        140        150        160        170        180 
TDSSLVVKEA KVGEPEVKEE KVKEEVMDWS EVKEEKDNLE IKQEEKFVGQ CIKEELMHGE 

       190        200        210        220        230        240 
CVKEEKDFLK KEIVDDTKVK EEPPINHPVG CKRKLAMSRC ETCGTEEAKY RCPRCMRYSC 

       250        260        270        280        290        300 
SLPCVKKHKA ELTCNGVRDK TAYISIQQFT EMNLLSDYRF LEDVARTADH ISRDAFLKRP 

       310        320        330        340        350        360 
ISNKYMYFMK NRARRQGINL KLLPNGFTKR KENSTFFDKK KQQFCWHVKL QFPQSQAEYI 

       370        380        390        400        410        420 
EKRVPDDKTI NEILKPYIDP EKSDPVIRQR LKAYIRSQTG VQILMKIEYM QQNLVRYYEL 

       430        440        450        460        470 
DPYKSLLDNL RNKVIIEYPT LHVVLKGSNN DMKVLHQVKS ESTKNVGNEN 

« Hide

Isoform 2 [UniParc].

Checksum: 23DBA0CADB4911C6
Show »

FASTA43149,486

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-25, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-455.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001164141.1. NM_001170670.1.
NP_060423.3. NM_017953.3.
UniGeneHs.5111.

3D structure databases

ProteinModelPortalQ9NWK9.
SMRQ9NWK9. Positions 212-259.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120099. 6 interactions.
IntActQ9NWK9. 8 interactions.
MINTMINT-1186429.
STRING9606.ENSP00000359606.

PTM databases

PhosphoSiteQ9NWK9.

Polymorphism databases

DMDM74753026.

Proteomic databases

PaxDbQ9NWK9.
PRIDEQ9NWK9.

Protocols and materials databases

DNASU54680.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370574; ENSP00000359606; ENSG00000117174. [Q9NWK9-1]
ENST00000431532; ENSP00000414344; ENSG00000117174. [Q9NWK9-2]
GeneID54680.
KEGGhsa:54680.
UCSCuc001dlh.3. human. [Q9NWK9-1]
uc010osc.2. human. [Q9NWK9-2]

Organism-specific databases

CTD54680.
GeneCardsGC01M086118.
H-InvDBHIX0000749.
HGNCHGNC:26089. ZNHIT6.
HPAHPA018132.
HPA050253.
neXtProtNX_Q9NWK9.
PharmGKBPA162410929.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG279669.
HOGENOMHOG000054208.
InParanoidQ9NWK9.
OMACKRKLAM.
OrthoDBEOG7HXCRK.
PhylomeDBQ9NWK9.
TreeFamTF323923.

Gene expression databases

BgeeQ9NWK9.
CleanExHS_ZNHIT6.
GenevestigatorQ9NWK9.

Family and domain databases

InterProIPR007529. Znf_HIT.
[Graphical view]
PfamPF04438. zf-HIT. 1 hit.
[Graphical view]
PROSITEPS51083. ZF_HIT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSZNHIT6. human.
GenomeRNAi54680.
NextBio57240.
PROQ9NWK9.

Entry information

Entry nameBCD1_HUMAN
AccessionPrimary (citable) accession number: Q9NWK9
Secondary accession number(s): B2RBA1 expand/collapse secondary AC list , B4DP13, D3DT20, Q9H278, Q9H3X3, Q9NWN0
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM