ID RBM48_HUMAN Reviewed; 367 AA. AC Q5RL73; B7Z2K5; B7ZL51; Q5H9T2; Q8IYW7; Q96NS0; Q9H0V7; DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot. DT 21-DEC-2004, sequence version 1. DT 24-JAN-2024, entry version 152. DE RecName: Full=RNA-binding protein 48; GN Name=RBM48; Synonyms=C7orf64; ORFNames=HSPC304; 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] (ISOFORM 1). RC TISSUE=Brain, and Endometrial adenocarcinoma; RX PubMed=11230166; DOI=10.1101/gr.gr1547r; RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B., RA Klein M., Poustka A.; RT "Towards a catalog of human genes and proteins: sequencing and analysis of RT 500 novel complete protein coding human cDNAs."; RL Genome Res. 11:422-435(2001). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE RP [LARGE SCALE MRNA] OF 180-367 (ISOFORM 1). RC TISSUE=Brain, and Cerebellum; 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 [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=12853948; DOI=10.1038/nature01782; RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H., RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., RA Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(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 (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain, Lung, and Testis; 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] {ECO:0007744|PDB:7DVQ} RP STRUCTURE BY ELECTRON MICROSCOPY (2.89 ANGSTROMS), FUNCTION, AND SUBUNIT. RX PubMed=33509932; DOI=10.1126/science.abg0879; RA Bai R., Wan R., Wang L., Xu K., Zhang Q., Lei J., Shi Y.; RT "Structure of the activated human minor spliceosome."; RL Science 371:0-0(2021). CC -!- FUNCTION: As a component of the minor spliceosome, involved in the CC splicing of U12-type introns in pre-mRNAs. CC {ECO:0000305|PubMed:33509932}. CC -!- SUBUNIT: Component of the minor spliceosome. Within this complex, CC interacts with ARMC7 and PRPF8/PRP8. {ECO:0000269|PubMed:33509932}. CC -!- INTERACTION: CC Q5RL73; A2BDD9: AMOT; NbExp=3; IntAct=EBI-473821, EBI-17286414; CC Q5RL73; Q9H6L4: ARMC7; NbExp=5; IntAct=EBI-473821, EBI-742909; CC Q5RL73; Q8N5M1: ATPAF2; NbExp=3; IntAct=EBI-473821, EBI-1166928; CC Q5RL73; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-473821, EBI-10961624; CC Q5RL73; P10606: COX5B; NbExp=3; IntAct=EBI-473821, EBI-1053725; CC Q5RL73; Q8N9N8: EIF1AD; NbExp=3; IntAct=EBI-473821, EBI-750700; CC Q5RL73; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-473821, EBI-6658203; CC Q5RL73; P13807: GYS1; NbExp=3; IntAct=EBI-473821, EBI-740553; CC Q5RL73; O75031: HSF2BP; NbExp=3; IntAct=EBI-473821, EBI-7116203; CC Q5RL73; Q8N9B5-2: JMY; NbExp=3; IntAct=EBI-473821, EBI-10268138; CC Q5RL73; Q9HAQ2: KIF9; NbExp=3; IntAct=EBI-473821, EBI-8472129; CC Q5RL73; P40692: MLH1; NbExp=3; IntAct=EBI-473821, EBI-744248; CC Q5RL73; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-473821, EBI-741158; CC Q5RL73; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-473821, EBI-14066006; CC Q5RL73; O15160: POLR1C; NbExp=3; IntAct=EBI-473821, EBI-1055079; CC Q5RL73; O43741: PRKAB2; NbExp=3; IntAct=EBI-473821, EBI-1053424; CC Q5RL73; O75771: RAD51D; NbExp=3; IntAct=EBI-473821, EBI-1055693; CC Q5RL73; Q8WXG8: S100Z; NbExp=3; IntAct=EBI-473821, EBI-12198403; CC Q5RL73; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-473821, EBI-748391; CC Q5RL73; Q7Z698: SPRED2; NbExp=3; IntAct=EBI-473821, EBI-7082156; CC Q5RL73; Q9NU19: TBC1D22B; NbExp=3; IntAct=EBI-473821, EBI-8787464; CC Q5RL73; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-473821, EBI-750487; CC Q5RL73; Q969E8: TSR2; NbExp=3; IntAct=EBI-473821, EBI-746981; CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q5RL73-1; Sequence=Displayed; CC Name=2; CC IsoId=Q5RL73-2; Sequence=VSP_056683; CC -!- SIMILARITY: Belongs to the RBM48 family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAH33561.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC Sequence=BAB70806.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=CAB66554.1; Type=Frameshift; Evidence={ECO:0000305}; CC Sequence=CAI45942.1; Type=Erroneous translation; Note=The protein sequence does not correspond to the translation of the nucleic acid sequence.; Evidence={ECO:0000305}; CC Sequence=EAL24148.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AL136619; CAB66554.1; ALT_FRAME; mRNA. DR EMBL; CR933641; CAI45942.1; ALT_SEQ; mRNA. DR EMBL; AK054777; BAB70806.1; ALT_INIT; mRNA. DR EMBL; AK294812; BAH11891.1; -; mRNA. DR EMBL; AC005156; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC007566; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471091; EAW76839.1; -; Genomic_DNA. DR EMBL; CH236949; EAL24148.1; ALT_SEQ; Genomic_DNA. DR EMBL; BC033561; AAH33561.1; ALT_INIT; mRNA. DR EMBL; BC044570; AAH44570.1; -; mRNA. DR EMBL; BC104865; AAI04866.1; -; mRNA. DR EMBL; BC104867; AAI04868.1; -; mRNA. DR EMBL; BC143576; AAI43577.1; -; mRNA. DR CCDS; CCDS43615.1; -. [Q5RL73-1] DR RefSeq; NP_115496.2; NM_032120.3. [Q5RL73-1] DR RefSeq; XP_005250693.1; XM_005250636.4. [Q5RL73-2] DR PDB; 7DVQ; EM; 2.89 A; I=1-367. DR PDBsum; 7DVQ; -. DR AlphaFoldDB; Q5RL73; -. DR EMDB; EMD-30875; -. DR SMR; Q5RL73; -. DR BioGRID; 123855; 72. DR IntAct; Q5RL73; 73. DR MINT; Q5RL73; -. DR STRING; 9606.ENSP00000265732; -. DR iPTMnet; Q5RL73; -. DR PhosphoSitePlus; Q5RL73; -. DR BioMuta; RBM48; -. DR DMDM; 74736145; -. DR EPD; Q5RL73; -. DR MassIVE; Q5RL73; -. DR MaxQB; Q5RL73; -. DR PaxDb; 9606-ENSP00000265732; -. DR PeptideAtlas; Q5RL73; -. DR ProteomicsDB; 63754; -. [Q5RL73-1] DR Pumba; Q5RL73; -. DR Antibodypedia; 8703; 136 antibodies from 18 providers. DR DNASU; 84060; -. DR Ensembl; ENST00000265732.10; ENSP00000265732.5; ENSG00000127993.16. [Q5RL73-1] DR Ensembl; ENST00000481551.5; ENSP00000419242.1; ENSG00000127993.16. [Q5RL73-2] DR GeneID; 84060; -. DR KEGG; hsa:84060; -. DR MANE-Select; ENST00000265732.10; ENSP00000265732.5; NM_032120.4; NP_115496.2. DR UCSC; uc003ulz.4; human. [Q5RL73-1] DR AGR; HGNC:21785; -. DR CTD; 84060; -. DR DisGeNET; 84060; -. DR GeneCards; RBM48; -. DR HGNC; HGNC:21785; RBM48. DR HPA; ENSG00000127993; Low tissue specificity. DR neXtProt; NX_Q5RL73; -. DR OpenTargets; ENSG00000127993; -. DR PharmGKB; PA164717383; -. DR VEuPathDB; HostDB:ENSG00000127993; -. DR eggNOG; ENOG502QSNB; Eukaryota. DR GeneTree; ENSGT00390000004541; -. DR HOGENOM; CLU_065720_0_0_1; -. DR InParanoid; Q5RL73; -. DR OMA; PLCYFAS; -. DR OrthoDB; 91793at2759; -. DR PhylomeDB; Q5RL73; -. DR TreeFam; TF328457; -. DR PathwayCommons; Q5RL73; -. DR SignaLink; Q5RL73; -. DR BioGRID-ORCS; 84060; 517 hits in 1163 CRISPR screens. DR ChiTaRS; RBM48; human. DR GenomeRNAi; 84060; -. DR Pharos; Q5RL73; Tdark. DR PRO; PR:Q5RL73; -. DR Proteomes; UP000005640; Chromosome 7. DR RNAct; Q5RL73; Protein. DR Bgee; ENSG00000127993; Expressed in buccal mucosa cell and 182 other cell types or tissues. DR ExpressionAtlas; Q5RL73; baseline and differential. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0005681; C:spliceosomal complex; IEA:UniProtKB-KW. DR GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW. DR GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW. DR GO; GO:0008380; P:RNA splicing; IEA:UniProtKB-KW. DR CDD; cd12442; RRM_RBM48; 1. DR InterPro; IPR035979; RBD_domain_sf. DR InterPro; IPR039599; RBM48. DR InterPro; IPR034264; RBM48_RRM. DR PANTHER; PTHR20957:SF1; RNA-BINDING PROTEIN 48; 1. DR PANTHER; PTHR20957; UNCHARACTERIZED; 1. DR SUPFAM; SSF54928; RNA-binding domain, RBD; 1. DR Genevisible; Q5RL73; HS. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; mRNA processing; mRNA splicing; KW Reference proteome; RNA-binding; Spliceosome. FT CHAIN 1..367 FT /note="RNA-binding protein 48" FT /id="PRO_0000321514" FT DOMAIN 46..124 FT /note="RRM" FT REGION 217..243 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 280..302 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 343..367 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 222..240 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 280..295 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 343..360 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 341..367 FT /note="ISSVPKPPEDKPEDVHTSHPLKQRRRI -> RLFLKNYSKTRFGYRIKWRII FT CGNNSTVIFFHFLVF (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_056683" FT CONFLICT 8 FT /note="L -> P (in Ref. 1; CAB66554)" FT /evidence="ECO:0000305" FT CONFLICT 229 FT /note="R -> K (in Ref. 2; BAB70806)" FT /evidence="ECO:0000305" FT CONFLICT 359 FT /note="H -> R (in Ref. 2; BAB70806)" FT /evidence="ECO:0000305" FT TURN 41..43 FT /evidence="ECO:0007829|PDB:7DVQ" FT STRAND 46..57 FT /evidence="ECO:0007829|PDB:7DVQ" FT HELIX 59..67 FT /evidence="ECO:0007829|PDB:7DVQ" FT STRAND 72..77 FT /evidence="ECO:0007829|PDB:7DVQ" FT STRAND 79..81 FT /evidence="ECO:0007829|PDB:7DVQ" FT STRAND 87..96 FT /evidence="ECO:0007829|PDB:7DVQ" FT HELIX 97..107 FT /evidence="ECO:0007829|PDB:7DVQ" FT STRAND 118..121 FT /evidence="ECO:0007829|PDB:7DVQ" FT TURN 123..125 FT /evidence="ECO:0007829|PDB:7DVQ" FT HELIX 128..143 FT /evidence="ECO:0007829|PDB:7DVQ" SQ SEQUENCE 367 AA; 41808 MW; BD42E7ACCDCE9B96 CRC64; MASSGGELGS LFDHHVQRAV CDTRAKYREG RRPRAVKVYT INLESQYLLI QGVPAVGVMK ELVERFALYG AIEQYNALDE YPAEDFTEVY LIKFMNLQSA RTAKRKMDEQ SFFGGLLHVC YAPEFETVEE TRKKLQMRKA YVVKTTENKD HYVTKKKLVT EHKDTEDFRQ DFHSEMSGFC KAALNTSAGN SNPYLPYSCE LPLCYFSSKC MCSSGGPVDR APDSSKDGRN HHKTMGHYNH NDSLRKTQIN SLKNSVACPG AQKAITSSEA VDRFMPRTTQ LQERKRRRED DRKLGTFLQT NPTGNEIMIG PLLPDISKVD MHDDSLNTTA NLIRHKLKEV ISSVPKPPED KPEDVHTSHP LKQRRRI //