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Q9H0K6

- PUS7L_HUMAN

UniProt

Q9H0K6 - PUS7L_HUMAN

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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

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
Complete GO annotation...

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

BgeeiQ9H0K6.
CleanExiHS_PUS7L.
ExpressionAtlasiQ9H0K6. baseline and differential.
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.
GeneTreeiENSGT00530000063554.
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

        10         20         30         40         50
MEEDTDYRIR FSSLCFFNDH VGFHGTIKSS PSDFIVIEID EQGQLVNKTI
60 70 80 90 100
DEPIFKISEI QLEPNNFPKK PKLDLQNLSL EDGRNQEVHT LIKYTDGDQN
110 120 130 140 150
HQSGSEKEDT IVDGTSKCEE KADVLSSFLD EKTHELLNNF ACDVREKWLS
160 170 180 190 200
KTELIGLPPE FSIGRILDKN QRASLHSAIR QKFPFLVTVG KNSEIVVKPN
210 220 230 240 250
LEYKELCHLV SEEEAFDFFK YLDAKKENSK FTFKPDTNKD HRKAVHHFVN
260 270 280 290 300
KKFGNLVETK SFSKMNCSAG NPNVVVTVRF REKAHKRGKR PLSECQEGKV
310 320 330 340 350
IYTAFTLRKE NLEMFEAIGF LAIKLGVIPS DFSYAGLKDK KAITYQAMVV
360 370 380 390 400
RKVTPERLKN IEKEIEKKRM NVFNIRSVDD SLRLGQLKGN HFDIVIRNLK
410 420 430 440 450
KQINDSANLR ERIMEAIENV KKKGFVNYYG PQRFGKGRKV HTDQIGLALL
460 470 480 490 500
KNEMMKAIKL FLTPEDLDDP VNRAKKYFLQ TEDAKGTLSL MPEFKVRERA
510 520 530 540 550
LLEALHRFGM TEEGCIQAWF SLPHSMRIFY VHAYTSKIWN EAVSYRLETY
560 570 580 590 600
GARVVQGDLV CLDEDIDDEN FPNSKIHLVT EEEGSANMYA IHQVVLPVLG
610 620 630 640 650
YNIQYPKNKV GQWYHDILSR DGLQTCRFKV PTLKLNIPGC YRQILKHPCN
660 670 680 690 700
LSYQLMEDHD IDVKTKGSHI DETALSLLIS FDLDASCYAT VCLKEIMKHD

V
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.
GeneTreei ENSGT00530000063554.
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

Bgeei Q9H0K6.
CleanExi HS_PUS7L.
ExpressionAtlasi Q9H0K6. baseline and differential.
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 29, 2014
This is version 103 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