UniProtKB - Q96HR8 (NAF1_HUMAN)
Protein
H/ACA ribonucleoprotein complex non-core subunit NAF1
Gene
NAF1
Organism
Homo sapiens (Human)
Status
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
- identical protein binding Source: IntAct
- RNA binding Source: UniProtKB
- telomerase RNA binding Source: BHF-UCL
GO - Biological processi
- box H/ACA snoRNP assembly Source: BHF-UCL
- positive regulation of telomerase activity Source: BHF-UCL
- positive regulation of telomerase RNA localization to Cajal body Source: BHF-UCL
- positive regulation of telomere maintenance via telomerase Source: BHF-UCL
- positive regulation of telomere maintenance via telomere lengthening Source: BHF-UCL
- ribosome biogenesis Source: UniProtKB
- RNA stabilization Source: BHF-UCL
- snoRNA guided rRNA pseudouridine synthesis Source: BHF-UCL
- telomerase holoenzyme complex assembly Source: BHF-UCL
- telomerase RNA stabilization Source: BHF-UCL
Keywordsi
Molecular function | Ribonucleoprotein, RNA-binding |
Biological process | Ribosome biogenesis, rRNA processing |
Enzyme and pathway databases
PathwayCommonsi | Q96HR8 |
Names & Taxonomyi
Protein namesi | Recommended name: H/ACA ribonucleoprotein complex non-core subunit NAF1Short name: hNAF1 |
Gene namesi | Name:NAF1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000145414.8 |
HGNCi | HGNC:25126, NAF1 |
MIMi | 617868, gene |
neXtProti | NX_Q96HR8 |
Subcellular locationi
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Other locations
- cytoplasm Source: UniProtKB-SubCell
- small nucleolar ribonucleoprotein complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 92345 |
OpenTargetsi | ENSG00000145414 |
PharmGKBi | PA162396775 |
Miscellaneous databases
Pharosi | Q96HR8, Tbio |
Polymorphism and mutation databases
BioMutai | NAF1 |
DMDMi | 296439238 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000315637 | 1 – 494 | H/ACA ribonucleoprotein complex non-core subunit NAF1Add BLAST | 494 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 315 | PhosphoserineCombined sources | 1 | |
Cross-linki | 338 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q96HR8 |
jPOSTi | Q96HR8 |
MassIVEi | Q96HR8 |
MaxQBi | Q96HR8 |
PaxDbi | Q96HR8 |
PeptideAtlasi | Q96HR8 |
PRIDEi | Q96HR8 |
ProteomicsDBi | 19109 76779 [Q96HR8-1] |
PTM databases
iPTMneti | Q96HR8 |
PhosphoSitePlusi | Q96HR8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000145414, Expressed in skeletal muscle tissue and 208 other tissues |
ExpressionAtlasi | Q96HR8, baseline and differential |
Genevisiblei | Q96HR8, HS |
Organism-specific databases
HPAi | ENSG00000145414, Low tissue specificity |
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 PublicationsBinary interactionsi
Hide detailsQ96HR8
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 124938, 103 interactors |
IntActi | Q96HR8, 79 interactors |
STRINGi | 9606.ENSP00000274054 |
Miscellaneous databases
RNActi | Q96HR8, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q96HR8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96HR8 |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 110 – 148 | Ser-richAdd BLAST | 39 | |
Compositional biasi | 417 – 481 | Pro-richAdd BLAST | 65 |
Sequence similaritiesi
Belongs to the NAF1 family.Curated
Phylogenomic databases
eggNOGi | KOG2236, Eukaryota |
GeneTreei | ENSGT00390000004697 |
HOGENOMi | CLU_032218_0_0_1 |
InParanoidi | Q96HR8 |
OMAi | FSEVHQN |
OrthoDBi | 1453365at2759 |
PhylomeDBi | Q96HR8 |
TreeFami | TF313273 |
Family and domain databases
Gene3Di | 2.40.10.230, 1 hit |
InterProi | View protein in InterPro IPR038664, Gar1/Naf1_Cbf5-bd_sf IPR007504, H/ACA_rnp_Gar1/Naf1 IPR040309, Naf1 IPR009000, Transl_B-barrel_sf |
PANTHERi | PTHR31633, PTHR31633, 1 hit |
Pfami | View protein in Pfam PF04410, Gar1, 1 hit |
SUPFAMi | SSF50447, SSF50447, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96HR8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketD6RIB3 | D6RIB3_HUMAN | H/ACA ribonucleoprotein complex sub... | NAF1 | 42 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057795 | 43 | P → S. Corresponds to variant dbSNP:rs12331663Ensembl. | 1 | |
Natural variantiVAR_063101 | 162 | I → V1 PublicationCorresponds to variant dbSNP:rs4691896Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046217 | 346 – 389 | EDFTE…SCHGR → TGISHRYCGLGSRPLQSSES HKLFGFQMHIKVTFTCYFSL LSMQ in isoform 2. 1 PublicationAdd BLAST | 44 | |
Alternative sequenceiVSP_046218 | 390 – 494 | Missing in isoform 2. 1 PublicationAdd BLAST | 105 |
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 |
CCDSi | CCDS3803.1 [Q96HR8-1] CCDS47159.1 [Q96HR8-2] |
RefSeqi | NP_001122403.1, NM_001128931.1 [Q96HR8-2] NP_612395.2, NM_138386.2 [Q96HR8-1] XP_011530712.1, XM_011532410.2 [Q96HR8-1] |
Genome annotation databases
Ensembli | ENST00000274054; ENSP00000274054; ENSG00000145414 [Q96HR8-1] ENST00000422287; ENSP00000408963; ENSG00000145414 [Q96HR8-2] |
GeneIDi | 92345 |
KEGGi | hsa:92345 |
UCSCi | uc003iqj.4, human [Q96HR8-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS3803.1 [Q96HR8-1] CCDS47159.1 [Q96HR8-2] |
RefSeqi | NP_001122403.1, NM_001128931.1 [Q96HR8-2] NP_612395.2, NM_138386.2 [Q96HR8-1] XP_011530712.1, XM_011532410.2 [Q96HR8-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2EQN | NMR | - | A | 181-276 | [»] | |
SMRi | Q96HR8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124938, 103 interactors |
IntActi | Q96HR8, 79 interactors |
STRINGi | 9606.ENSP00000274054 |
PTM databases
iPTMneti | Q96HR8 |
PhosphoSitePlusi | Q96HR8 |
Polymorphism and mutation databases
BioMutai | NAF1 |
DMDMi | 296439238 |
Proteomic databases
EPDi | Q96HR8 |
jPOSTi | Q96HR8 |
MassIVEi | Q96HR8 |
MaxQBi | Q96HR8 |
PaxDbi | Q96HR8 |
PeptideAtlasi | Q96HR8 |
PRIDEi | Q96HR8 |
ProteomicsDBi | 19109 76779 [Q96HR8-1] |
Protocols and materials databases
Antibodypediai | 48823, 39 antibodies |
Genome annotation databases
Ensembli | ENST00000274054; ENSP00000274054; ENSG00000145414 [Q96HR8-1] ENST00000422287; ENSP00000408963; ENSG00000145414 [Q96HR8-2] |
GeneIDi | 92345 |
KEGGi | hsa:92345 |
UCSCi | uc003iqj.4, human [Q96HR8-1] |
Organism-specific databases
CTDi | 92345 |
DisGeNETi | 92345 |
EuPathDBi | HostDB:ENSG00000145414.8 |
GeneCardsi | NAF1 |
HGNCi | HGNC:25126, NAF1 |
HPAi | ENSG00000145414, Low tissue specificity |
MIMi | 617868, gene |
neXtProti | NX_Q96HR8 |
OpenTargetsi | ENSG00000145414 |
PharmGKBi | PA162396775 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2236, Eukaryota |
GeneTreei | ENSGT00390000004697 |
HOGENOMi | CLU_032218_0_0_1 |
InParanoidi | Q96HR8 |
OMAi | FSEVHQN |
OrthoDBi | 1453365at2759 |
PhylomeDBi | Q96HR8 |
TreeFami | TF313273 |
Enzyme and pathway databases
PathwayCommonsi | Q96HR8 |
Miscellaneous databases
BioGRID-ORCSi | 92345, 331 hits in 846 CRISPR screens |
ChiTaRSi | NAF1, human |
EvolutionaryTracei | Q96HR8 |
GenomeRNAii | 92345 |
Pharosi | Q96HR8, Tbio |
PROi | PR:Q96HR8 |
RNActi | Q96HR8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000145414, Expressed in skeletal muscle tissue and 208 other tissues |
ExpressionAtlasi | Q96HR8, baseline and differential |
Genevisiblei | Q96HR8, HS |
Family and domain databases
Gene3Di | 2.40.10.230, 1 hit |
InterProi | View protein in InterPro IPR038664, Gar1/Naf1_Cbf5-bd_sf IPR007504, H/ACA_rnp_Gar1/Naf1 IPR040309, Naf1 IPR009000, Transl_B-barrel_sf |
PANTHERi | PTHR31633, PTHR31633, 1 hit |
Pfami | View protein in Pfam PF04410, Gar1, 1 hit |
SUPFAMi | SSF50447, SSF50447, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NAF1_HUMAN | |
Accessioni | Q96HR8Primary (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: | December 2, 2020 | |
This is version 142 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations