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tRNA-splicing endonuclease subunit Sen15 (SEN15 homolog) (HsSEN15) (tRNA-intron endonuclease Sen15)

 SEN15_HUMAN             Reviewed;         171 AA.
Q8WW01; B4DKP0; Q9BZQ5;
19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
01-MAR-2002, sequence version 1.
12-SEP-2018, entry version 134.
RecName: Full=tRNA-splicing endonuclease subunit Sen15;
AltName: Full=SEN15 homolog;
Short=HsSEN15;
AltName: Full=tRNA-intron endonuclease Sen15;
Name=TSEN15; Synonyms=C1orf19, SEN15;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
PubMed=11318611; DOI=10.1006/geno.2001.6500;
Sood R., Bonner T.I., Malakowska I., Stephan D.A., Robbins C.M.,
Connors T.D., Morgenbesser S.D., Su K., Faruque M.U., Pinkett H.,
Graham C., Baxevanis A.D., Klinger K.W., Landes G.M., Trent J.M.,
Carpten J.D.;
"Cloning and characterization of 13 novel transcripts and the human
RGS8 gene from the 1q25 region encompassing the hereditary prostate
cancer (HPC1) locus.";
Genomics 73:211-222(2001).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Colon;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
PARTIAL PROTEIN SEQUENCE, FUNCTION, AND COMPONENT OF A COMPLEX WITH
SEN2; SEN54; SEN34 AND CLP1.
PubMed=15109492; DOI=10.1016/S0092-8674(04)00342-3;
Paushkin S.V., Patel M., Furia B.S., Peltz S.W., Trotta C.R.;
"Identification of a human endonuclease complex reveals a link between
tRNA splicing and pre-mRNA 3' end formation.";
Cell 117:311-321(2004).
[7]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-7 AND SER-168, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[9]
INVOLVEMENT IN PCH2F, AND VARIANT PCH2F GLY-76.
PubMed=25558065; DOI=10.1016/j.celrep.2014.12.015;
Alazami A.M., Patel N., Shamseldin H.E., Anazi S., Al-Dosari M.S.,
Alzahrani F., Hijazi H., Alshammari M., Aldahmesh M.A., Salih M.A.,
Faqeih E., Alhashem A., Bashiri F.A., Al-Owain M., Kentab A.Y.,
Sogaty S., Al Tala S., Temsah M.H., Tulbah M., Aljelaify R.F.,
Alshahwan S.A., Seidahmed M.Z., Alhadid A.A., Aldhalaan H.,
Alqallaf F., Kurdi W., Alfadhel M., Babay Z., Alsogheer M., Kaya N.,
Al-Hassnan Z.N., Abdel-Salam G.M., Al-Sannaa N., Al Mutairi F.,
El Khashab H.Y., Bohlega S., Jia X., Nguyen H.C., Hammami R., Adly N.,
Mohamed J.Y., Abdulwahab F., Ibrahim N., Naim E.A., Al-Younes B.,
Meyer B.F., Hashem M., Shaheen R., Xiong Y., Abouelhoda M.,
Aldeeri A.A., Monies D.M., Alkuraya F.S.;
"Accelerating novel candidate gene discovery in neurogenetic disorders
via whole-exome sequencing of prescreened multiplex consanguineous
families.";
Cell Rep. 10:148-161(2015).
[10]
STRUCTURE BY NMR OF 36-157, AND HOMODIMERIZATION.
PubMed=17166513; DOI=10.1016/j.jmb.2006.11.024;
Song J., Markley J.L.;
"Three-dimensional structure determined for a subunit of human tRNA
splicing endonuclease (Sen15) reveals a novel dimeric fold.";
J. Mol. Biol. 366:155-164(2007).
[11]
VARIANTS PCH2F GLY-76; TYR-116 AND CYS-152, CHARACTERIZATION OF
VARIANTS PCH2F GLY-76; TYR-116 AND CYS-152, AND FUNCTION.
PubMed=27392077; DOI=10.1016/j.ajhg.2016.05.023;
Breuss M.W., Sultan T., James K.N., Rosti R.O., Scott E., Musaev D.,
Furia B., Reis A., Sticht H., Al-Owain M., Alkuraya F.S., Reuter M.S.,
Abou Jamra R., Trotta C.R., Gleeson J.G.;
"Autosomal-recessive mutations in the tRNA splicing endonuclease
subunit TSEN15 cause pontocerebellar hypoplasia and progressive
microcephaly.";
Am. J. Hum. Genet. 99:228-235(2016).
-!- FUNCTION: Non-catalytic subunit of the tRNA-splicing endonuclease
complex, a complex responsible for identification and cleavage of
the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3'
splice sites to release the intron. The products are an intron and
two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH
termini (PubMed:15109492, PubMed:27392077). There are no conserved
sequences at the splice sites, but the intron is invariably
located at the same site in the gene, placing the splice sites an
invariant distance from the constant structural features of the
tRNA body. The tRNA splicing endonuclease is also involved in mRNA
processing via its association with pre-mRNA 3'-end processing
factors, establishing a link between pre-tRNA splicing and pre-
mRNA 3'-end formation, suggesting that the endonuclease subunits
function in multiple RNA-processing events (PubMed:15109492).
{ECO:0000269|PubMed:15109492, ECO:0000269|PubMed:27392077}.
-!- SUBUNIT: Homodimer (PubMed:17166513). tRNA splicing endonuclease
is a heterotetramer composed of TSEN2, TSEN15, TSEN34/LENG5 and
TSEN54. tRNA splicing endonuclease complex also contains proteins
of the Pre-mRNA 3' end processing machinery, such as CLP1, CPSF1,
CPSF4 and CSTF2. {ECO:0000269|PubMed:17166513}.
-!- INTERACTION:
Q8TCD6:PHOSPHO2; NbExp=4; IntAct=EBI-372432, EBI-2861380;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Nucleus, nucleolus
{ECO:0000305}. Note=May be transiently localized in the nucleolus.
{ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q8WW01-1; Sequence=Displayed;
Name=2;
IsoId=Q8WW01-2; Sequence=VSP_042723;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Widely expressed. Highly expressed in testis
and uterus. {ECO:0000269|PubMed:11318611}.
-!- DISEASE: Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026]: A
neurodevelopmental disorder characterized by progressive
microcephaly, cognitive and motor delay, poor or absent speech,
seizures, and spasticity. PCH2F inheritance is autosomal
recessive. {ECO:0000269|PubMed:25558065,
ECO:0000269|PubMed:27392077}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the SEN15 family. {ECO:0000305}.
-!- CAUTION: Although only weakly related to the S.cerevisiae SEN15
protein, it probably displays the same function within the tRNA
splicing endonuclease complex. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAG60614.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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EMBL; AF288394; AAG60614.1; ALT_INIT; mRNA.
EMBL; AK296655; BAG59252.1; -; mRNA.
EMBL; AL157943; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL158011; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471067; EAW91174.1; -; Genomic_DNA.
EMBL; BC022030; AAH22030.1; -; mRNA.
CCDS; CCDS1361.1; -. [Q8WW01-1]
CCDS; CCDS44286.1; -. [Q8WW01-2]
RefSeq; NP_001120866.1; NM_001127394.3. [Q8WW01-2]
RefSeq; NP_001287693.1; NM_001300764.1.
RefSeq; NP_001287695.1; NM_001300766.1.
RefSeq; NP_443197.1; NM_052965.3. [Q8WW01-1]
UniGene; Hs.548197; -.
PDB; 2GW6; NMR; -; A/B=36-157.
PDBsum; 2GW6; -.
ProteinModelPortal; Q8WW01; -.
SMR; Q8WW01; -.
BioGrid; 125513; 17.
CORUM; Q8WW01; -.
IntAct; Q8WW01; 28.
MINT; Q8WW01; -.
STRING; 9606.ENSP00000355299; -.
iPTMnet; Q8WW01; -.
PhosphoSitePlus; Q8WW01; -.
BioMuta; TSEN15; -.
DMDM; 50401628; -.
EPD; Q8WW01; -.
MaxQB; Q8WW01; -.
PaxDb; Q8WW01; -.
PeptideAtlas; Q8WW01; -.
PRIDE; Q8WW01; -.
ProteomicsDB; 74840; -.
ProteomicsDB; 74841; -. [Q8WW01-2]
DNASU; 116461; -.
Ensembl; ENST00000423085; ENSP00000402002; ENSG00000198860. [Q8WW01-2]
Ensembl; ENST00000645668; ENSP00000493902; ENSG00000198860. [Q8WW01-1]
GeneID; 116461; -.
KEGG; hsa:116461; -.
UCSC; uc001gqt.5; human. [Q8WW01-1]
CTD; 116461; -.
DisGeNET; 116461; -.
EuPathDB; HostDB:ENSG00000198860.11; -.
GeneCards; TSEN15; -.
HGNC; HGNC:16791; TSEN15.
HPA; HPA029237; -.
MalaCards; TSEN15; -.
MIM; 608756; gene.
MIM; 617026; phenotype.
neXtProt; NX_Q8WW01; -.
OpenTargets; ENSG00000198860; -.
PharmGKB; PA162407135; -.
eggNOG; ENOG410IYHQ; Eukaryota.
eggNOG; ENOG41120H2; LUCA.
GeneTree; ENSGT00390000014781; -.
HOGENOM; HOG000290172; -.
HOVERGEN; HBG058504; -.
InParanoid; Q8WW01; -.
KO; K15324; -.
OMA; SQVYIAF; -.
OrthoDB; EOG091G0T33; -.
PhylomeDB; Q8WW01; -.
TreeFam; TF336144; -.
BioCyc; MetaCyc:HS13020-MONOMER; -.
Reactome; R-HSA-6784531; tRNA processing in the nucleus.
ChiTaRS; TSEN15; human.
EvolutionaryTrace; Q8WW01; -.
GeneWiki; C1orf19; -.
GenomeRNAi; 116461; -.
PRO; PR:Q8WW01; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000198860; Expressed in 201 organ(s), highest expression level in deltoid.
CleanEx; HS_TSEN15; -.
ExpressionAtlas; Q8WW01; baseline and differential.
Genevisible; Q8WW01; HS.
GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell.
GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
GO; GO:0000213; F:tRNA-intron endonuclease activity; IEA:InterPro.
GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
GO; GO:0006388; P:tRNA splicing, via endonucleolytic cleavage and ligation; IEA:InterPro.
Gene3D; 3.40.1350.10; -; 1.
InterPro; IPR018593; tRNA-endonuc_su_Sen15.
InterPro; IPR011856; tRNA_endonuc-like_dom_sf.
InterPro; IPR036167; tRNA_intron_Endo_cat-like_sf.
Pfam; PF09631; Sen15; 1.
SUPFAM; SSF53032; SSF53032; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Direct protein sequencing; Disease mutation; mRNA processing; Nucleus;
Phosphoprotein; Polymorphism; Reference proteome; tRNA processing.
CHAIN 1 171 tRNA-splicing endonuclease subunit Sen15.
/FTId=PRO_0000194023.
MOD_RES 7 7 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 168 168 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
VAR_SEQ 120 171 REILKASRKLQGDPDLPMSFTLAIVESDSTIVYYKLTDGFM
LPDPQNISLRR -> FLLEDDIHVS (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_042723.
VARIANT 19 19 G -> D (in dbSNP:rs2274432).
/FTId=VAR_019457.
VARIANT 59 59 Q -> H (in dbSNP:rs1046934).
/FTId=VAR_019458.
VARIANT 76 76 W -> G (in PCH2F; Almost complete loss of
tRNA-intron endonuclease activity in
vitro; may affect protein levels;
dbSNP:rs730882223).
{ECO:0000269|PubMed:25558065,
ECO:0000269|PubMed:27392077}.
/FTId=VAR_077061.
VARIANT 116 116 H -> Y (in PCH2F; Almost complete loss of
tRNA-intron endonuclease activity in
vitro; dbSNP:rs879253780).
{ECO:0000269|PubMed:27392077}.
/FTId=VAR_077062.
VARIANT 152 152 Y -> C (in PCH2F; Almost complete loss of
tRNA-intron endonuclease activity in
vitro; may affect protein levels;
dbSNP:rs879253779).
{ECO:0000269|PubMed:27392077}.
/FTId=VAR_077063.
HELIX 44 50 {ECO:0000244|PDB:2GW6}.
STRAND 52 54 {ECO:0000244|PDB:2GW6}.
HELIX 57 72 {ECO:0000244|PDB:2GW6}.
STRAND 77 84 {ECO:0000244|PDB:2GW6}.
TURN 85 88 {ECO:0000244|PDB:2GW6}.
STRAND 89 97 {ECO:0000244|PDB:2GW6}.
STRAND 104 109 {ECO:0000244|PDB:2GW6}.
STRAND 113 115 {ECO:0000244|PDB:2GW6}.
HELIX 116 129 {ECO:0000244|PDB:2GW6}.
STRAND 138 144 {ECO:0000244|PDB:2GW6}.
STRAND 150 156 {ECO:0000244|PDB:2GW6}.
SEQUENCE 171 AA; 18641 MW; E728BF39A89DD1FB CRC64;
MEERGDSEPT PGCSGLGPGG VRGFGDGGGA PSWAPEDAWM GTHPKYLEMM ELDIGDATQV
YVAFLVYLDL MESKSWHEVN CVGLPELQLI CLVGTEIEGE GLQTVVPTPI TASLSHNRIR
EILKASRKLQ GDPDLPMSFT LAIVESDSTI VYYKLTDGFM LPDPQNISLR R


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H9070 TRNA-splicing endonuclease subunit Sen54 (TSEN54), Human, ELISA Kit 96T


 

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