SNR48_HUMAN
ID SNR48_HUMAN Reviewed; 339 AA.
AC Q6IEG0; A8K8P4; Q14C91; Q5T339; Q5THM1; Q5THM2; Q96MK1;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=U11/U12 small nuclear ribonucleoprotein 48 kDa protein;
DE Short=U11/U12 snRNP 48 kDa protein;
DE Short=U11/U12-48K;
GN Name=SNRNP48; Synonyms=C6orf151;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Fetal skin;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-45.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP IDENTIFICATION IN A COMPLEX WITH THE U11/U12 SPLICEOSOME, SUBCELLULAR
RP LOCATION, AND IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=15146077; DOI=10.1261/rna.7320604;
RA Will C.L., Schneider C., Hossbach M., Urlaub H., Rauhut R., Elbashir S.,
RA Tuschl T., Luehrmann R.;
RT "The human 18S U11/U12 snRNP contains a set of novel proteins not found in
RT the U2-dependent spliceosome.";
RL RNA 10:929-941(2004).
RN [7]
RP DOMAIN CHHC ZINC-FINGER.
RX PubMed=18703587; DOI=10.1093/bioinformatics/btn431;
RA Andreeva A., Tidow H.;
RT "A novel CHHC Zn-finger domain found in spliceosomal proteins and tRNA
RT modifying enzymes.";
RL Bioinformatics 24:2277-2280(2008).
RN [8]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-87 AND LYS-104, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
RN [9]
RP STRUCTURE BY NMR OF 53-87, DOMAIN CHHC ZINC-FINGER, AND FUNCTION.
RX PubMed=19217400; DOI=10.1016/j.str.2008.11.013;
RA Tidow H., Andreeva A., Rutherford T.J., Fersht A.R.;
RT "Solution structure of the U11-48K CHHC zinc-finger domain that
RT specifically binds the 5' splice site of U12-type introns.";
RL Structure 17:294-302(2009).
CC -!- FUNCTION: Likely involved in U12-type 5' splice site recognition.
CC {ECO:0000269|PubMed:19217400}.
CC -!- SUBUNIT: Component of the U11/U12 snRNPs that are part of the U12-type
CC spliceosome. Not found in the major spliceosome.
CC {ECO:0000269|PubMed:15146077}.
CC -!- INTERACTION:
CC Q6IEG0; Q96GN5: CDCA7L; NbExp=3; IntAct=EBI-2876632, EBI-5278764;
CC Q6IEG0; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-2876632, EBI-744099;
CC Q6IEG0; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-2876632, EBI-5235340;
CC Q6IEG0; P57075-2: UBASH3A; NbExp=3; IntAct=EBI-2876632, EBI-7353612;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15146077}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6IEG0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6IEG0-2; Sequence=VSP_014640, VSP_014641;
CC -!- DOMAIN: The CHHC region interacts with the 5' splice site of the U12-
CC type intron. {ECO:0000269|PubMed:18703587,
CC ECO:0000269|PubMed:19217400}.
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DR EMBL; AK056796; BAB71287.1; -; mRNA.
DR EMBL; AK292409; BAF85098.1; -; mRNA.
DR EMBL; AL832462; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL031058; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL390026; CAI20238.1; -; Genomic_DNA.
DR EMBL; CH471087; EAW55216.1; -; Genomic_DNA.
DR EMBL; BC114630; AAI14631.1; -; mRNA.
DR EMBL; BC114631; AAI14632.1; -; mRNA.
DR EMBL; BK005199; DAA05497.1; ALT_SEQ; mRNA.
DR CCDS; CCDS4502.1; -. [Q6IEG0-1]
DR RefSeq; NP_689764.3; NM_152551.3. [Q6IEG0-1]
DR PDB; 2VY4; NMR; -; A=53-87.
DR PDB; 2VY5; NMR; -; A=53-87.
DR PDBsum; 2VY4; -.
DR PDBsum; 2VY5; -.
DR AlphaFoldDB; Q6IEG0; -.
DR SMR; Q6IEG0; -.
DR BioGRID; 127530; 42.
DR CORUM; Q6IEG0; -.
DR IntAct; Q6IEG0; 19.
DR MINT; Q6IEG0; -.
DR STRING; 9606.ENSP00000339834; -.
DR iPTMnet; Q6IEG0; -.
DR PhosphoSitePlus; Q6IEG0; -.
DR BioMuta; SNRNP48; -.
DR DMDM; 71152380; -.
DR EPD; Q6IEG0; -.
DR jPOST; Q6IEG0; -.
DR MassIVE; Q6IEG0; -.
DR MaxQB; Q6IEG0; -.
DR PaxDb; Q6IEG0; -.
DR PeptideAtlas; Q6IEG0; -.
DR PRIDE; Q6IEG0; -.
DR ProteomicsDB; 66412; -. [Q6IEG0-1]
DR ProteomicsDB; 66413; -. [Q6IEG0-2]
DR Antibodypedia; 24691; 99 antibodies from 16 providers.
DR DNASU; 154007; -.
DR Ensembl; ENST00000342415.6; ENSP00000339834.4; ENSG00000168566.13. [Q6IEG0-1]
DR GeneID; 154007; -.
DR KEGG; hsa:154007; -.
DR MANE-Select; ENST00000342415.6; ENSP00000339834.4; NM_152551.4; NP_689764.3.
DR UCSC; uc003mxr.3; human. [Q6IEG0-1]
DR CTD; 154007; -.
DR GeneCards; SNRNP48; -.
DR HGNC; HGNC:21368; SNRNP48.
DR HPA; ENSG00000168566; Low tissue specificity.
DR neXtProt; NX_Q6IEG0; -.
DR OpenTargets; ENSG00000168566; -.
DR PharmGKB; PA164726157; -.
DR VEuPathDB; HostDB:ENSG00000168566; -.
DR eggNOG; ENOG502QW2V; Eukaryota.
DR GeneTree; ENSGT00390000004886; -.
DR HOGENOM; CLU_072333_0_0_1; -.
DR InParanoid; Q6IEG0; -.
DR OMA; WQGQYSG; -.
DR OrthoDB; 1626841at2759; -.
DR PhylomeDB; Q6IEG0; -.
DR TreeFam; TF332204; -.
DR PathwayCommons; Q6IEG0; -.
DR Reactome; R-HSA-72165; mRNA Splicing - Minor Pathway.
DR SignaLink; Q6IEG0; -.
DR BioGRID-ORCS; 154007; 394 hits in 1084 CRISPR screens.
DR ChiTaRS; SNRNP48; human.
DR EvolutionaryTrace; Q6IEG0; -.
DR GenomeRNAi; 154007; -.
DR Pharos; Q6IEG0; Tbio.
DR PRO; PR:Q6IEG0; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q6IEG0; protein.
DR Bgee; ENSG00000168566; Expressed in buccal mucosa cell and 172 other tissues.
DR ExpressionAtlas; Q6IEG0; baseline and differential.
DR Genevisible; Q6IEG0; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005689; C:U12-type spliceosomal complex; IDA:HGNC-UCL.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR GO; GO:0008380; P:RNA splicing; IC:HGNC-UCL.
DR InterPro; IPR032845; Snrnp48.
DR InterPro; IPR022776; TRM13/UPF0224_CHHC_Znf_dom.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR PANTHER; PTHR21402:SF10; PTHR21402:SF10; 2.
DR Pfam; PF05253; zf-U11-48K; 1.
DR SUPFAM; SSF57667; SSF57667; 1.
DR PROSITE; PS51800; ZF_CHHC_U11_48K; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Isopeptide bond; Metal-binding;
KW mRNA processing; mRNA splicing; Nucleus; Reference proteome; Spliceosome;
KW Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..339
FT /note="U11/U12 small nuclear ribonucleoprotein 48 kDa
FT protein"
FT /id="PRO_0000089544"
FT ZN_FING 55..82
FT /note="CHHC U11-48K-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT REGION 255..339
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 255..278
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 310..324
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 325..339
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 58
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 64
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 74
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 78
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT CROSSLNK 87
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 104
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 136..144
FT /note="RIYSSLPVE -> IIGVSIKRN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_014640"
FT VAR_SEQ 145..336
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_014641"
FT VARIANT 45
FT /note="P -> L (in dbSNP:rs2757594)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_033678"
FT VARIANT 281
FT /note="R -> Q (in dbSNP:rs3823184)"
FT /id="VAR_050812"
FT CONFLICT 237
FT /note="Y -> C (in Ref. 2; AL832462)"
FT /evidence="ECO:0000305"
FT STRAND 55..57
FT /evidence="ECO:0007829|PDB:2VY5"
FT TURN 59..61
FT /evidence="ECO:0007829|PDB:2VY4"
FT STRAND 65..67
FT /evidence="ECO:0007829|PDB:2VY5"
FT HELIX 68..70
FT /evidence="ECO:0007829|PDB:2VY4"
FT HELIX 71..82
FT /evidence="ECO:0007829|PDB:2VY4"
SQ SEQUENCE 339 AA; 39965 MW; BB761BCD40E468C5 CRC64;
MEGEPPPVEE RRRLQEELNE FVESGCRTLE EVTASLGWDL DSLDPGEEEA AEDEVVICPY
DSNHHMPKSS LAKHMASCRL RKMGYTKEEE DEMYNPEFFY ENVKIPSITL NKDSQFQIIK
QARTAVGKDS DCYNQRIYSS LPVEVPLNHK RFVCDLTQAD RLALYDFVVE ETKKKRSDSQ
IIENDSDLFV DLAAKINQDN SRKSPKSYLE ILAEVRDYKR RRQSYRAKNV HITKKSYTEV
IRDVINVHME ELSNHWQEEQ EKAEDDAEKN EERRSASVDS RQSGGSYLDA ECSRHRRDRS
RSPHKRKRNK DKDKNCESRR RKERDGERHH SHKRRKQKI
