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Q9H0K6 (PUS7L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Pseudouridylate synthase 7 homolog-like protein

EC=5.4.99.-
Gene names
Name:PUS7L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length701 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

tRNA uridine = tRNA pseudouridine.

Sequence similarities

Belongs to the pseudouridine synthase TruD family.

Contains 1 TRUD domain.

Sequence caution

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

Ontologies

Keywords
   Biological processtRNA processing
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionIsomerase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processpseudouridine synthesis

Inferred from electronic annotation. Source: InterPro

tRNA processing

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionRNA binding

Inferred from electronic annotation. Source: InterPro

pseudouridine synthase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H0K6-1)

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.
Isoform 2 (identifier: Q9H0K6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-313: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 701701Pseudouridylate synthase 7 homolog-like protein
PRO_0000316785

Regions

Domain424 – 647224TRUD

Sites

Active site3391Nucleophile By similarity

Natural variations

Alternative sequence1 – 313313Missing in isoform 2.
VSP_054568
Natural variant921I → M.
Corresponds to variant rs33999797 [ dbSNP | Ensembl ].
VAR_038392
Natural variant2641K → E. Ref.3
Corresponds to variant rs1057190 [ dbSNP | Ensembl ].
VAR_038393
Natural variant3431I → V.
Corresponds to variant rs34668377 [ dbSNP | Ensembl ].
VAR_038394

Experimental info

Sequence conflict1671L → V in AAH68502. Ref.5
Sequence conflict2061L → F in AAH20781. Ref.5
Sequence conflict5721P → Q in AAH68502. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: F8DD4478EA1210A0

FASTA70180,700
        10         20         30         40         50         60 
MEEDTDYRIR FSSLCFFNDH VGFHGTIKSS PSDFIVIEID EQGQLVNKTI DEPIFKISEI 

        70         80         90        100        110        120 
QLEPNNFPKK PKLDLQNLSL EDGRNQEVHT LIKYTDGDQN HQSGSEKEDT IVDGTSKCEE 

       130        140        150        160        170        180 
KADVLSSFLD EKTHELLNNF ACDVREKWLS KTELIGLPPE FSIGRILDKN QRASLHSAIR 

       190        200        210        220        230        240 
QKFPFLVTVG KNSEIVVKPN LEYKELCHLV SEEEAFDFFK YLDAKKENSK FTFKPDTNKD 

       250        260        270        280        290        300 
HRKAVHHFVN KKFGNLVETK SFSKMNCSAG NPNVVVTVRF REKAHKRGKR PLSECQEGKV 

       310        320        330        340        350        360 
IYTAFTLRKE NLEMFEAIGF LAIKLGVIPS DFSYAGLKDK KAITYQAMVV RKVTPERLKN 

       370        380        390        400        410        420 
IEKEIEKKRM NVFNIRSVDD SLRLGQLKGN HFDIVIRNLK KQINDSANLR ERIMEAIENV 

       430        440        450        460        470        480 
KKKGFVNYYG PQRFGKGRKV HTDQIGLALL KNEMMKAIKL FLTPEDLDDP VNRAKKYFLQ 

       490        500        510        520        530        540 
TEDAKGTLSL MPEFKVRERA LLEALHRFGM TEEGCIQAWF SLPHSMRIFY VHAYTSKIWN 

       550        560        570        580        590        600 
EAVSYRLETY GARVVQGDLV CLDEDIDDEN FPNSKIHLVT EEEGSANMYA IHQVVLPVLG 

       610        620        630        640        650        660 
YNIQYPKNKV GQWYHDILSR DGLQTCRFKV PTLKLNIPGC YRQILKHPCN LSYQLMEDHD 

       670        680        690        700 
IDVKTKGSHI DETALSLLIS FDLDASCYAT VCLKEIMKHD V 

« Hide

Isoform 2 [UniParc].

Checksum: CA675EA52FBA57D7
Show »

FASTA38844,671

References

[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS8743.1.
RefSeqNP_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]
UniGeneHs.445814.

3D structure databases

ProteinModelPortalQ9H0K6.
SMRQ9H0K6. Positions 294-698.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123650. 3 interactions.
MINTMINT-4719419.
STRING9606.ENSP00000343081.

PTM databases

PhosphoSiteQ9H0K6.

Polymorphism databases

DMDM74733527.

Proteomic databases

MaxQBQ9H0K6.
PaxDbQ9H0K6.
PRIDEQ9H0K6.

Protocols and materials databases

DNASU83448.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000344862; ENSP00000343081; ENSG00000129317.
ENST00000416848; ENSP00000415899; ENSG00000129317.
ENST00000431332; ENSP00000398497; ENSG00000129317.
ENST00000551923; ENSP00000447706; ENSG00000129317.
GeneID83448.
KEGGhsa:83448.
UCSCuc001rnq.5. human. [Q9H0K6-1]

Organism-specific databases

CTD83448.
GeneCardsGC12M044122.
HGNCHGNC:25276. PUS7L.
HPAHPA056203.
HPA058750.
neXtProtNX_Q9H0K6.
PharmGKBPA143485588.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0585.
HOGENOMHOG000115802.
HOVERGENHBG060973.
InParanoidQ9H0K6.
KOK06176.
OMAENLEMFE.
OrthoDBEOG7XWPN5.
PhylomeDBQ9H0K6.
TreeFamTF314278.

Gene expression databases

ArrayExpressQ9H0K6.
BgeeQ9H0K6.
CleanExHS_PUS7L.
GenevestigatorQ9H0K6.

Family and domain databases

InterProIPR020103. PsdUridine_synth_cat_dom.
IPR001656. PsdUridine_synth_TruD.
IPR017091. PsdUridine_synth_TruD_euk.
IPR011760. PsdUridine_synth_TruD_insert.
[Graphical view]
PANTHERPTHR13326. PTHR13326. 1 hit.
PfamPF01142. TruD. 1 hit.
[Graphical view]
PIRSFPIRSF037016. Pseudouridin_synth_euk_prd. 1 hit.
SUPFAMSSF55120. SSF55120. 3 hits.
TIGRFAMsTIGR00094. tRNA_TruD_broad. 1 hit.
PROSITEPS50984. TRUD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPUS7L.
GenomeRNAi83448.
NextBio35470097.
PROQ9H0K6.

Entry information

Entry namePUS7L_HUMAN
AccessionPrimary (citable) accession number: Q9H0K6
Secondary accession number(s): B3KUJ1 expand/collapse secondary AC list , Q05CU0, Q6AHZ3, Q6NUP2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM