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Q96HR8

- NAF1_HUMAN

UniProt

Q96HR8 - NAF1_HUMAN

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Protein

H/ACA ribonucleoprotein complex non-core subunit NAF1

Gene

NAF1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. poly(A) RNA binding Source: UniProtKB
  2. RNA binding Source: UniProtKB

GO - Biological processi

  1. pseudouridine synthesis Source: InterPro
  2. ribosome biogenesis Source: UniProtKB
  3. rRNA processing Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Ribonucleoprotein

Keywords - Biological processi

Ribosome biogenesis, rRNA processing

Keywords - Ligandi

RNA-binding

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
ProteomesiUP000005640: Unplaced

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

  1. cytoplasm Source: UniProtKB-KW
  2. nucleus Source: UniProtKB-KW
  3. small nucleolar ribonucleoprotein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162396775.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 494494H/ACA ribonucleoprotein complex non-core subunit NAF1PRO_0000315637Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Modified residuei315 – 3151Phosphoserine3 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ96HR8.
PaxDbiQ96HR8.
PRIDEiQ96HR8.

PTM databases

PhosphoSiteiQ96HR8.

Expressioni

Gene expression databases

BgeeiQ96HR8.
CleanExiHS_NAF1.
ExpressionAtlasiQ96HR8. baseline and differential.
GenevestigatoriQ96HR8.

Organism-specific databases

HPAiHPA036241.
HPA036242.

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
DKC1O608326EBI-2515597,EBI-713091
Dkc1P406153EBI-2515597,EBI-5746997From a different organism.

Protein-protein interaction databases

BioGridi124938. 18 interactions.
IntActiQ96HR8. 12 interactions.
MINTiMINT-2814080.
STRINGi9606.ENSP00000274054.

Structurei

Secondary structure

1
494
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi199 – 2079Combined sources
Beta strandi209 – 2168Combined sources
Beta strandi228 – 2303Combined sources
Beta strandi234 – 24512Combined sources
Beta strandi247 – 2493Combined sources
Beta strandi251 – 2544Combined sources
Helixi259 – 2657Combined sources
Beta strandi272 – 2754Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2EQNNMR-A181-276[»]
ProteinModelPortaliQ96HR8.
SMRiQ96HR8. Positions 181-276.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96HR8.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi110 – 14839Ser-richAdd
BLAST
Compositional biasi417 – 48165Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the NAF1 family.Curated

Phylogenomic databases

eggNOGiNOG275663.
GeneTreeiENSGT00390000004697.
HOGENOMiHOG000168512.
HOVERGENiHBG108169.
InParanoidiQ96HR8.
KOiK14763.
OMAiPSVNMGW.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431P → S.
Corresponds to variant rs12331663 [ dbSNP | Ensembl ].
VAR_057795
Natural varianti162 – 1621I → V.1 Publication
Corresponds to variant rs4691896 [ dbSNP | Ensembl ].
VAR_063101

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei346 – 38944EDFTE…SCHGR → TGISHRYCGLGSRPLQSSES HKLFGFQMHIKVTFTCYFSL LSMQ in isoform 2. 1 PublicationVSP_046217Add
BLAST
Alternative sequencei390 – 494105Missing in isoform 2. 1 PublicationVSP_046218Add
BLAST

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]
UniGeneiHs.129095.

Genome annotation databases

EnsembliENST00000274054; ENSP00000274054; ENSG00000145414. [Q96HR8-1]
ENST00000422287; ENSP00000408963; ENSG00000145414. [Q96HR8-2]
GeneIDi92345.
KEGGihsa:92345.
UCSCiuc003iqj.3. human. [Q96HR8-1]

Polymorphism databases

DMDMi296439238.

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 .
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 ]
UniGenei Hs.129095.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2EQN NMR - A 181-276 [» ]
ProteinModelPortali Q96HR8.
SMRi Q96HR8. Positions 181-276.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124938. 18 interactions.
IntActi Q96HR8. 12 interactions.
MINTi MINT-2814080.
STRINGi 9606.ENSP00000274054.

PTM databases

PhosphoSitei Q96HR8.

Polymorphism databases

DMDMi 296439238.

Proteomic databases

MaxQBi Q96HR8.
PaxDbi Q96HR8.
PRIDEi Q96HR8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000274054 ; ENSP00000274054 ; ENSG00000145414 . [Q96HR8-1 ]
ENST00000422287 ; ENSP00000408963 ; ENSG00000145414 . [Q96HR8-2 ]
GeneIDi 92345.
KEGGi hsa:92345.
UCSCi uc003iqj.3. human. [Q96HR8-1 ]

Organism-specific databases

CTDi 92345.
GeneCardsi GC04M164047.
H-InvDB HIX0004605.
HGNCi HGNC:25126. NAF1.
HPAi HPA036241.
HPA036242.
neXtProti NX_Q96HR8.
PharmGKBi PA162396775.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG275663.
GeneTreei ENSGT00390000004697.
HOGENOMi HOG000168512.
HOVERGENi HBG108169.
InParanoidi Q96HR8.
KOi K14763.
OMAi PSVNMGW.
PhylomeDBi Q96HR8.
TreeFami TF313273.

Miscellaneous databases

EvolutionaryTracei Q96HR8.
GenomeRNAii 92345.
NextBioi 77719.
PROi Q96HR8.

Gene expression databases

Bgeei Q96HR8.
CleanExi HS_NAF1.
ExpressionAtlasi Q96HR8. baseline and differential.
Genevestigatori Q96HR8.

Family and domain databases

InterProi IPR007504. H/ACA_rnp_Gar1/Naf1.
IPR009000. Transl_B-barrel.
[Graphical view ]
Pfami PF04410. Gar1. 1 hit.
[Graphical view ]
SUPFAMi SSF50447. SSF50447. 1 hit.
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] (ISOFORM 2).
    Tissue: Cerebellum.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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), VARIANT VAL-162.
    Tissue: Placenta.
  5. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-315, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells."
    Darzacq X., Kittur N., Roy S., Shav-Tal Y., Singer R.H., Meier U.T.
    J. Cell Biol. 173:207-218(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH DKC1.
  7. "hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase."
    Hoareau-Aveilla C., Bonoli M., Caizergues-Ferrer M., Henry Y.
    RNA 12:832-840(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH DKC1 AND NOLA3.
  8. "Dynamic association and localization of human H/ACA RNP proteins."
    Kittur N., Darzacq X., Roy S., Singer R.H., Meier U.T.
    RNA 12:2057-2062(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-315, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-315, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "Solution structure of the NAF1 domain of hypothetical protein BC008207 [Homo sapiens]."
    RIKEN structural genomics initiative (RSGI)
    Submitted (OCT-2007) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 181-276.

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 26, 2014
This is version 91 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

External Data

Dasty 3