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Q9H0K6

- PUS7L_HUMAN

UniProt

Q9H0K6 - PUS7L_HUMAN

Protein

Pseudouridylate synthase 7 homolog-like protein

Gene

PUS7L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    tRNA uridine = tRNA pseudouridine.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei339 – 3391NucleophileBy similarity

    GO - Molecular functioni

    1. pseudouridine synthase activity Source: InterPro
    2. RNA binding Source: InterPro

    GO - Biological processi

    1. pseudouridine synthesis Source: InterPro
    2. tRNA processing Source: UniProtKB-KW

    Keywords - Molecular functioni

    Isomerase

    Keywords - Biological processi

    tRNA processing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pseudouridylate synthase 7 homolog-like protein (EC:5.4.99.-)
    Gene namesi
    Name:PUS7L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:25276. PUS7L.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485588.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 701701Pseudouridylate synthase 7 homolog-like proteinPRO_0000316785Add
    BLAST

    Proteomic databases

    MaxQBiQ9H0K6.
    PaxDbiQ9H0K6.
    PRIDEiQ9H0K6.

    PTM databases

    PhosphoSiteiQ9H0K6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H0K6.
    BgeeiQ9H0K6.
    CleanExiHS_PUS7L.
    GenevestigatoriQ9H0K6.

    Organism-specific databases

    HPAiHPA056203.
    HPA058750.

    Interactioni

    Protein-protein interaction databases

    BioGridi123650. 3 interactions.
    MINTiMINT-4719419.
    STRINGi9606.ENSP00000343081.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H0K6.
    SMRiQ9H0K6. Positions 294-698.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini424 – 647224TRUDPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the pseudouridine synthase TruD family.Curated
    Contains 1 TRUD domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0585.
    HOGENOMiHOG000115802.
    HOVERGENiHBG060973.
    InParanoidiQ9H0K6.
    KOiK06176.
    OMAiENLEMFE.
    OrthoDBiEOG7XWPN5.
    PhylomeDBiQ9H0K6.
    TreeFamiTF314278.

    Family and domain databases

    InterProiIPR020103. PsdUridine_synth_cat_dom.
    IPR001656. PsdUridine_synth_TruD.
    IPR017091. PsdUridine_synth_TruD_euk.
    IPR011760. PsdUridine_synth_TruD_insert.
    [Graphical view]
    PANTHERiPTHR13326. PTHR13326. 1 hit.
    PfamiPF01142. TruD. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037016. Pseudouridin_synth_euk_prd. 1 hit.
    SUPFAMiSSF55120. SSF55120. 3 hits.
    TIGRFAMsiTIGR00094. tRNA_TruD_broad. 1 hit.
    PROSITEiPS50984. TRUD. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H0K6-1) [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

    MEEDTDYRIR FSSLCFFNDH VGFHGTIKSS PSDFIVIEID EQGQLVNKTI    50
    DEPIFKISEI QLEPNNFPKK PKLDLQNLSL EDGRNQEVHT LIKYTDGDQN 100
    HQSGSEKEDT IVDGTSKCEE KADVLSSFLD EKTHELLNNF ACDVREKWLS 150
    KTELIGLPPE FSIGRILDKN QRASLHSAIR QKFPFLVTVG KNSEIVVKPN 200
    LEYKELCHLV SEEEAFDFFK YLDAKKENSK FTFKPDTNKD HRKAVHHFVN 250
    KKFGNLVETK SFSKMNCSAG NPNVVVTVRF REKAHKRGKR PLSECQEGKV 300
    IYTAFTLRKE NLEMFEAIGF LAIKLGVIPS DFSYAGLKDK KAITYQAMVV 350
    RKVTPERLKN IEKEIEKKRM NVFNIRSVDD SLRLGQLKGN HFDIVIRNLK 400
    KQINDSANLR ERIMEAIENV KKKGFVNYYG PQRFGKGRKV HTDQIGLALL 450
    KNEMMKAIKL FLTPEDLDDP VNRAKKYFLQ TEDAKGTLSL MPEFKVRERA 500
    LLEALHRFGM TEEGCIQAWF SLPHSMRIFY VHAYTSKIWN EAVSYRLETY 550
    GARVVQGDLV CLDEDIDDEN FPNSKIHLVT EEEGSANMYA IHQVVLPVLG 600
    YNIQYPKNKV GQWYHDILSR DGLQTCRFKV PTLKLNIPGC YRQILKHPCN 650
    LSYQLMEDHD IDVKTKGSHI DETALSLLIS FDLDASCYAT VCLKEIMKHD 700
    V 701
    Length:701
    Mass (Da):80,700
    Last modified:March 1, 2001 - v1
    Checksum:iF8DD4478EA1210A0
    GO
    Isoform 2 (identifier: Q9H0K6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-313: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:388
    Mass (Da):44,671
    Checksum:iCA675EA52FBA57D7
    GO

    Sequence cautioni

    The sequence AAH20781.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti167 – 1671L → V in AAH68502. (PubMed:15489334)Curated
    Sequence conflicti206 – 2061L → F in AAH20781. (PubMed:15489334)Curated
    Sequence conflicti572 – 5721P → Q in AAH68502. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti92 – 921I → M.
    Corresponds to variant rs33999797 [ dbSNP | Ensembl ].
    VAR_038392
    Natural varianti264 – 2641K → E.1 Publication
    Corresponds to variant rs1057190 [ dbSNP | Ensembl ].
    VAR_038393
    Natural varianti343 – 3431I → V.
    Corresponds to variant rs34668377 [ dbSNP | Ensembl ].
    VAR_038394

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 313313Missing in isoform 2. 1 PublicationVSP_054568Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136759 mRNA. Translation: CAB66693.1.
    AK097331 mRNA. Translation: BAG53453.1.
    AC016143 Genomic DNA. No translation available.
    AC093012 Genomic DNA. No translation available.
    CR627435 mRNA. Translation: CAH10521.1.
    BC020781 mRNA. Translation: AAH20781.1. Different termination.
    BC033621 mRNA. Translation: AAH33621.1.
    BC068502 mRNA. Translation: AAH68502.1.
    CCDSiCCDS61104.1. [Q9H0K6-2]
    CCDS8743.1. [Q9H0K6-1]
    RefSeqiNP_001092084.1. NM_001098614.2. [Q9H0K6-1]
    NP_001092085.1. NM_001098615.1. [Q9H0K6-1]
    NP_001258755.1. NM_001271826.1. [Q9H0K6-2]
    NP_112582.3. NM_031292.4. [Q9H0K6-1]
    XP_005269225.1. XM_005269168.1. [Q9H0K6-2]
    UniGeneiHs.445814.

    Genome annotation databases

    EnsembliENST00000344862; ENSP00000343081; ENSG00000129317. [Q9H0K6-1]
    ENST00000416848; ENSP00000415899; ENSG00000129317. [Q9H0K6-1]
    ENST00000431332; ENSP00000398497; ENSG00000129317. [Q9H0K6-2]
    ENST00000551923; ENSP00000447706; ENSG00000129317. [Q9H0K6-1]
    GeneIDi83448.
    KEGGihsa:83448.
    UCSCiuc001rnq.5. human. [Q9H0K6-1]

    Polymorphism databases

    DMDMi74733527.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136759 mRNA. Translation: CAB66693.1 .
    AK097331 mRNA. Translation: BAG53453.1 .
    AC016143 Genomic DNA. No translation available.
    AC093012 Genomic DNA. No translation available.
    CR627435 mRNA. Translation: CAH10521.1 .
    BC020781 mRNA. Translation: AAH20781.1 . Different termination.
    BC033621 mRNA. Translation: AAH33621.1 .
    BC068502 mRNA. Translation: AAH68502.1 .
    CCDSi CCDS61104.1. [Q9H0K6-2 ]
    CCDS8743.1. [Q9H0K6-1 ]
    RefSeqi NP_001092084.1. NM_001098614.2. [Q9H0K6-1 ]
    NP_001092085.1. NM_001098615.1. [Q9H0K6-1 ]
    NP_001258755.1. NM_001271826.1. [Q9H0K6-2 ]
    NP_112582.3. NM_031292.4. [Q9H0K6-1 ]
    XP_005269225.1. XM_005269168.1. [Q9H0K6-2 ]
    UniGenei Hs.445814.

    3D structure databases

    ProteinModelPortali Q9H0K6.
    SMRi Q9H0K6. Positions 294-698.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123650. 3 interactions.
    MINTi MINT-4719419.
    STRINGi 9606.ENSP00000343081.

    PTM databases

    PhosphoSitei Q9H0K6.

    Polymorphism databases

    DMDMi 74733527.

    Proteomic databases

    MaxQBi Q9H0K6.
    PaxDbi Q9H0K6.
    PRIDEi Q9H0K6.

    Protocols and materials databases

    DNASUi 83448.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000344862 ; ENSP00000343081 ; ENSG00000129317 . [Q9H0K6-1 ]
    ENST00000416848 ; ENSP00000415899 ; ENSG00000129317 . [Q9H0K6-1 ]
    ENST00000431332 ; ENSP00000398497 ; ENSG00000129317 . [Q9H0K6-2 ]
    ENST00000551923 ; ENSP00000447706 ; ENSG00000129317 . [Q9H0K6-1 ]
    GeneIDi 83448.
    KEGGi hsa:83448.
    UCSCi uc001rnq.5. human. [Q9H0K6-1 ]

    Organism-specific databases

    CTDi 83448.
    GeneCardsi GC12M044122.
    HGNCi HGNC:25276. PUS7L.
    HPAi HPA056203.
    HPA058750.
    neXtProti NX_Q9H0K6.
    PharmGKBi PA143485588.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0585.
    HOGENOMi HOG000115802.
    HOVERGENi HBG060973.
    InParanoidi Q9H0K6.
    KOi K06176.
    OMAi ENLEMFE.
    OrthoDBi EOG7XWPN5.
    PhylomeDBi Q9H0K6.
    TreeFami TF314278.

    Miscellaneous databases

    GeneWikii PUS7L.
    GenomeRNAii 83448.
    NextBioi 35470097.
    PROi Q9H0K6.

    Gene expression databases

    ArrayExpressi Q9H0K6.
    Bgeei Q9H0K6.
    CleanExi HS_PUS7L.
    Genevestigatori Q9H0K6.

    Family and domain databases

    InterProi IPR020103. PsdUridine_synth_cat_dom.
    IPR001656. PsdUridine_synth_TruD.
    IPR017091. PsdUridine_synth_TruD_euk.
    IPR011760. PsdUridine_synth_TruD_insert.
    [Graphical view ]
    PANTHERi PTHR13326. PTHR13326. 1 hit.
    Pfami PF01142. TruD. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037016. Pseudouridin_synth_euk_prd. 1 hit.
    SUPFAMi SSF55120. SSF55120. 3 hits.
    TIGRFAMsi TIGR00094. tRNA_TruD_broad. 1 hit.
    PROSITEi PS50984. TRUD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    2. "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: Stomach.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-264.
      Tissue: Seminoma.
    4. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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).
      Tissue: Brain and Prostate.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiPUS7L_HUMAN
    AccessioniPrimary (citable) accession number: Q9H0K6
    Secondary accession number(s): B3KUJ1
    , Q05CU0, Q6AHZ3, Q6NUP2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 102 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 12
      Human chromosome 12: 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

    External Data

    Dasty 3