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Protein

H/ACA ribonucleoprotein complex non-core subunit NAF1

Gene

NAF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4.1 Publication

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • RNA binding Source: UniProtKB
  • telomerase RNA binding Source: BHF-UCL

GO - Biological processi

  • positive regulation of telomerase RNA localization to Cajal body Source: BHF-UCL
  • pseudouridine synthesis Source: InterPro
  • ribosome biogenesis Source: UniProtKB
  • rRNA processing Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Ribonucleoprotein

Keywords - Biological processi

Ribosome biogenesis, rRNA processing

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000145414-MONOMER.
ZFISH:ENSG00000145901-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
H/ACA ribonucleoprotein complex non-core subunit NAF1
Short name:
hNAF1
Gene namesi
Name:NAF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:25126. NAF1.

Subcellular locationi

  • Cytoplasm
  • Nucleus

  • Note: Shuttles between the cytoplasm and the nucleus. Absent from the nucleolus (By similarity).By similarity

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-SubCell
  • nucleus Source: HPA
  • small nucleolar ribonucleoprotein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi92345.
OpenTargetsiENSG00000145414.
PharmGKBiPA162396775.

Polymorphism and mutation databases

BioMutaiNAF1.
DMDMi296439238.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003156371 – 494H/ACA ribonucleoprotein complex non-core subunit NAF1Add BLAST494

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei315PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96HR8.
MaxQBiQ96HR8.
PaxDbiQ96HR8.
PeptideAtlasiQ96HR8.
PRIDEiQ96HR8.

PTM databases

iPTMnetiQ96HR8.
PhosphoSitePlusiQ96HR8.

Expressioni

Gene expression databases

BgeeiENSG00000145414.
CleanExiHS_NAF1.
ExpressionAtlasiQ96HR8. baseline and differential.
GenevisibleiQ96HR8. HS.

Organism-specific databases

HPAiHPA036241.
HPA036242.
HPA066090.

Interactioni

Subunit structurei

During assembly of the complex, component of the small nucleolar ribonucleoprotein particles containing H/ACA-type snoRNAs (H/ACA snoRNPs) which contains NOLA2/NHP2, NOLA3/NOP10, NAF1 and DKC1/NOLA4. Interacts directly with DKC1/NOLA4.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BCL2P104152EBI-2515597,EBI-77694
DAB1O755533EBI-2515597,EBI-7875264
DKC1O608327EBI-2515597,EBI-713091
Dkc1P406153EBI-2515597,EBI-5746997From a different organism.
FAM168AQ925673EBI-2515597,EBI-7957930
RBFOX2O432513EBI-2515597,EBI-746056
SNX33Q8WV413EBI-2515597,EBI-2481535

Protein-protein interaction databases

BioGridi124938. 64 interactors.
IntActiQ96HR8. 57 interactors.
MINTiMINT-2814080.
STRINGi9606.ENSP00000274054.

Structurei

Secondary structure

1494
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi199 – 207Combined sources9
Beta strandi209 – 216Combined sources8
Beta strandi228 – 230Combined sources3
Beta strandi234 – 245Combined sources12
Beta strandi247 – 249Combined sources3
Beta strandi251 – 254Combined sources4
Helixi259 – 265Combined sources7
Beta strandi272 – 275Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EQNNMR-A181-276[»]
ProteinModelPortaliQ96HR8.
SMRiQ96HR8.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96HR8.

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi110 – 148Ser-richAdd BLAST39
Compositional biasi417 – 481Pro-richAdd BLAST65

Sequence similaritiesi

Belongs to the NAF1 family.Curated

Phylogenomic databases

eggNOGiKOG2236. Eukaryota.
ENOG4111RRE. LUCA.
GeneTreeiENSGT00390000004697.
HOGENOMiHOG000168512.
HOVERGENiHBG108169.
InParanoidiQ96HR8.
KOiK14763.
OMAiPVFDMHN.
OrthoDBiEOG091G0GBB.
PhylomeDBiQ96HR8.
TreeFamiTF313273.

Family and domain databases

InterProiIPR007504. H/ACA_rnp_Gar1/Naf1.
IPR009000. Transl_B-barrel.
[Graphical view]
PfamiPF04410. Gar1. 1 hit.
[Graphical view]
SUPFAMiSSF50447. SSF50447. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96HR8-1) [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
MEVVEAAAAQ LETLKFNGTD FGVGEGPAAP SPGSAPVPGT QPPLQSFEGS
60 70 80 90 100
PDAGQTVEVK PAGEQPLQPV LNAVAAGTPA PQPQPPAESP ACGDCVTSPG
110 120 130 140 150
AAEPARAPDS LETSDSDSDS DSETDSDSSS SSSSSSSSSS SSSSSCISLP
160 170 180 190 200
PVLSDGDDDL QIEKENKNFP LKTKDELLLN ELPSVEELTI ILPEDIELKP
210 220 230 240 250
LGMVSSIIEQ LVIIESMTNL PPVNEETVIF KSDRQAAGKI FEIFGPVAHP
260 270 280 290 300
FYVLRFNSSD HIESKGIKIK ETMYFAPSMK DFTQYIFTEK LKQDKGSDAS
310 320 330 340 350
WKNDQEPPPE ALDFSDDEKE KEAKQRKKSQ IQGRKKLKSE FNEPGEDFTE
360 370 380 390 400
VHQNWNAHSS ASEHAKGYRN REFTRGFSRA RYPRSCHGRP PPQHFYNSEH
410 420 430 440 450
MVSQETSGFP SQRQNNPIMP QYPFPLPVFD MHNFPLRPPP PPPPPPVNMG
460 470 480 490
WATPNMAAHP LLNLPYSLPP PPPPPPLPPP PSSGDSNSHF GPYY
Length:494
Mass (Da):53,717
Last modified:May 18, 2010 - v2
Checksum:i5A0C9B635A982A62
GO
Isoform 2 (identifier: Q96HR8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     346-389: EDFTEVHQNW...ARYPRSCHGR → TGISHRYCGL...TCYFSLLSMQ
     390-494: Missing.

Note: No experimental confirmation available.
Show »
Length:389
Mass (Da):41,895
Checksum:iA05B634D1CA4001D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05779543P → S.Corresponds to variant rs12331663dbSNPEnsembl.1
Natural variantiVAR_063101162I → V.1 PublicationCorresponds to variant rs4691896dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_046217346 – 389EDFTE…SCHGR → TGISHRYCGLGSRPLQSSES HKLFGFQMHIKVTFTCYFSL LSMQ in isoform 2. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_046218390 – 494Missing in isoform 2. 1 PublicationAdd BLAST105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK308601 mRNA. No translation available.
AC022272 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04843.1.
CH471056 Genomic DNA. Translation: EAX04844.1.
BC008207 mRNA. Translation: AAH08207.1.
CCDSiCCDS3803.1. [Q96HR8-1]
CCDS47159.1. [Q96HR8-2]
RefSeqiNP_001122403.1. NM_001128931.1. [Q96HR8-2]
NP_612395.2. NM_138386.2. [Q96HR8-1]
XP_011530712.1. XM_011532410.2. [Q96HR8-1]
UniGeneiHs.129095.
Hs.733548.

Genome annotation databases

EnsembliENST00000274054; ENSP00000274054; ENSG00000145414. [Q96HR8-1]
ENST00000422287; ENSP00000408963; ENSG00000145414. [Q96HR8-2]
GeneIDi92345.
KEGGihsa:92345.
UCSCiuc003iqj.4. human. [Q96HR8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK308601 mRNA. No translation available.
AC022272 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04843.1.
CH471056 Genomic DNA. Translation: EAX04844.1.
BC008207 mRNA. Translation: AAH08207.1.
CCDSiCCDS3803.1. [Q96HR8-1]
CCDS47159.1. [Q96HR8-2]
RefSeqiNP_001122403.1. NM_001128931.1. [Q96HR8-2]
NP_612395.2. NM_138386.2. [Q96HR8-1]
XP_011530712.1. XM_011532410.2. [Q96HR8-1]
UniGeneiHs.129095.
Hs.733548.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EQNNMR-A181-276[»]
ProteinModelPortaliQ96HR8.
SMRiQ96HR8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124938. 64 interactors.
IntActiQ96HR8. 57 interactors.
MINTiMINT-2814080.
STRINGi9606.ENSP00000274054.

PTM databases

iPTMnetiQ96HR8.
PhosphoSitePlusiQ96HR8.

Polymorphism and mutation databases

BioMutaiNAF1.
DMDMi296439238.

Proteomic databases

EPDiQ96HR8.
MaxQBiQ96HR8.
PaxDbiQ96HR8.
PeptideAtlasiQ96HR8.
PRIDEiQ96HR8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000274054; ENSP00000274054; ENSG00000145414. [Q96HR8-1]
ENST00000422287; ENSP00000408963; ENSG00000145414. [Q96HR8-2]
GeneIDi92345.
KEGGihsa:92345.
UCSCiuc003iqj.4. human. [Q96HR8-1]

Organism-specific databases

CTDi92345.
DisGeNETi92345.
GeneCardsiNAF1.
H-InvDBHIX0004605.
HGNCiHGNC:25126. NAF1.
HPAiHPA036241.
HPA036242.
HPA066090.
neXtProtiNX_Q96HR8.
OpenTargetsiENSG00000145414.
PharmGKBiPA162396775.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2236. Eukaryota.
ENOG4111RRE. LUCA.
GeneTreeiENSGT00390000004697.
HOGENOMiHOG000168512.
HOVERGENiHBG108169.
InParanoidiQ96HR8.
KOiK14763.
OMAiPVFDMHN.
OrthoDBiEOG091G0GBB.
PhylomeDBiQ96HR8.
TreeFamiTF313273.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000145414-MONOMER.
ZFISH:ENSG00000145901-MONOMER.

Miscellaneous databases

EvolutionaryTraceiQ96HR8.
GenomeRNAii92345.
PROiQ96HR8.

Gene expression databases

BgeeiENSG00000145414.
CleanExiHS_NAF1.
ExpressionAtlasiQ96HR8. baseline and differential.
GenevisibleiQ96HR8. HS.

Family and domain databases

InterProiIPR007504. H/ACA_rnp_Gar1/Naf1.
IPR009000. Transl_B-barrel.
[Graphical view]
PfamiPF04410. Gar1. 1 hit.
[Graphical view]
SUPFAMiSSF50447. SSF50447. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNAF1_HUMAN
AccessioniPrimary (citable) accession number: Q96HR8
Secondary accession number(s): D3DP28, E9PAZ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 111 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. 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.