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Q96HR8

- NAF1_HUMAN

UniProt

Q96HR8 - NAF1_HUMAN

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
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    3. RNA binding Source: UniProtKB

    GO - Biological processi

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

    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: 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

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell
    3. small nucleolar ribonucleoprotein complex Source: UniProtKB

    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

    ArrayExpressiQ96HR8.
    BgeeiQ96HR8.
    CleanExiHS_NAF1.
    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. 16 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 – 2079
    Beta strandi209 – 2168
    Beta strandi228 – 2303
    Beta strandi234 – 24512
    Beta strandi247 – 2493
    Beta strandi251 – 2544
    Helixi259 – 2657
    Beta strandi272 – 2754

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MEVVEAAAAQ LETLKFNGTD FGVGEGPAAP SPGSAPVPGT QPPLQSFEGS    50
    PDAGQTVEVK PAGEQPLQPV LNAVAAGTPA PQPQPPAESP ACGDCVTSPG 100
    AAEPARAPDS LETSDSDSDS DSETDSDSSS SSSSSSSSSS SSSSSCISLP 150
    PVLSDGDDDL QIEKENKNFP LKTKDELLLN ELPSVEELTI ILPEDIELKP 200
    LGMVSSIIEQ LVIIESMTNL PPVNEETVIF KSDRQAAGKI FEIFGPVAHP 250
    FYVLRFNSSD HIESKGIKIK ETMYFAPSMK DFTQYIFTEK LKQDKGSDAS 300
    WKNDQEPPPE ALDFSDDEKE KEAKQRKKSQ IQGRKKLKSE FNEPGEDFTE 350
    VHQNWNAHSS ASEHAKGYRN REFTRGFSRA RYPRSCHGRP PPQHFYNSEH 400
    MVSQETSGFP SQRQNNPIMP QYPFPLPVFD MHNFPLRPPP PPPPPPVNMG 450
    WATPNMAAHP LLNLPYSLPP PPPPPPLPPP PSSGDSNSHF GPYY 494
    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:
    EMBL
    GenBank
    DDBJ
    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

    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 16 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

    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.
    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

    ArrayExpressi Q96HR8.
    Bgeei Q96HR8.
    CleanExi HS_NAF1.
    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

    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: October 1, 2014
    This is version 89 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