Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Box C/D snoRNA protein 1

Gene

ZNHIT6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Zinc fingeri220 – 254HIT-typePROSITE-ProRule annotationAdd BLAST35

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • identical protein binding Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • TFIID-class transcription factor binding Source: UniProtKB

GO - Biological processi

  • box C/D snoRNP assembly Source: BHF-UCL
  • protein oligomerization Source: UniProtKB
  • ribosome biogenesis Source: UniProtKB-KW
  • snoRNA localization Source: UniProtKB
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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26089. ZNHIT6.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • pre-snoRNP complex Source: BHF-UCL
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi54680.
OpenTargetsiENSG00000117174.
PharmGKBiPA162410929.

Polymorphism and mutation databases

BioMutaiZNHIT6.
DMDMi74753026.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002802391 – 470Box C/D snoRNA protein 1Add BLAST470

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei25PhosphoserineCombined sources1
Cross-linki138Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki143Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki162Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki200Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki459Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9NWK9.
MaxQBiQ9NWK9.
PaxDbiQ9NWK9.
PeptideAtlasiQ9NWK9.
PRIDEiQ9NWK9.

PTM databases

iPTMnetiQ9NWK9.
PhosphoSitePlusiQ9NWK9.

Expressioni

Gene expression databases

BgeeiENSG00000117174.
CleanExiHS_ZNHIT6.
GenevisibleiQ9NWK9. HS.

Organism-specific databases

HPAiHPA018132.

Interactioni

Subunit structurei

Interacts with FBL, SNU13, NOP58, NUFIP1, RUVBL1, RUVBL2 and TAF9.1 Publication

Binary interactionsi

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

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • identical protein binding Source: BHF-UCL
  • TFIID-class transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120099. 23 interactors.
IntActiQ9NWK9. 9 interactors.
MINTiMINT-1186429.
STRINGi9606.ENSP00000359606.

Structurei

3D structure databases

ProteinModelPortaliQ9NWK9.
SMRiQ9NWK9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi40 – 202Glu-richAdd BLAST163

Sequence similaritiesi

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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri220 – 254HIT-typePROSITE-ProRule annotationAdd BLAST35

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG2858. Eukaryota.
ENOG4111QF2. LUCA.
GeneTreeiENSGT00390000017201.
HOGENOMiHOG000054208.
InParanoidiQ9NWK9.
OMAiCKRKLAM.
OrthoDBiEOG091G0E2X.
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. AlignAdd to basket

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti144E → G in CAC09440 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0310969G → R.Corresponds to variant rs17399721dbSNPEnsembl.1
Natural variantiVAR_035721455L → H in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04294678 – 116Missing in isoform 2. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human. [Q9NWK9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9NWK9.
SMRiQ9NWK9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120099. 23 interactors.
IntActiQ9NWK9. 9 interactors.
MINTiMINT-1186429.
STRINGi9606.ENSP00000359606.

PTM databases

iPTMnetiQ9NWK9.
PhosphoSitePlusiQ9NWK9.

Polymorphism and mutation databases

BioMutaiZNHIT6.
DMDMi74753026.

Proteomic databases

EPDiQ9NWK9.
MaxQBiQ9NWK9.
PaxDbiQ9NWK9.
PeptideAtlasiQ9NWK9.
PRIDEiQ9NWK9.

Protocols and materials databases

DNASUi54680.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370574; ENSP00000359606; ENSG00000117174. [Q9NWK9-1]
ENST00000431532; ENSP00000414344; ENSG00000117174. [Q9NWK9-2]
GeneIDi54680.
KEGGihsa:54680.
UCSCiuc001dlh.4. human. [Q9NWK9-1]

Organism-specific databases

CTDi54680.
DisGeNETi54680.
GeneCardsiZNHIT6.
H-InvDBHIX0000749.
HGNCiHGNC:26089. ZNHIT6.
HPAiHPA018132.
neXtProtiNX_Q9NWK9.
OpenTargetsiENSG00000117174.
PharmGKBiPA162410929.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2858. Eukaryota.
ENOG4111QF2. LUCA.
GeneTreeiENSGT00390000017201.
HOGENOMiHOG000054208.
InParanoidiQ9NWK9.
OMAiCKRKLAM.
OrthoDBiEOG091G0E2X.
PhylomeDBiQ9NWK9.
TreeFamiTF323923.

Miscellaneous databases

ChiTaRSiZNHIT6. human.
GenomeRNAii54680.
PROiQ9NWK9.

Gene expression databases

BgeeiENSG00000117174.
CleanExiHS_ZNHIT6.
GenevisibleiQ9NWK9. HS.

Family and domain databases

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

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: November 2, 2016
This is version 119 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.