RBM48_HUMAN
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 03-AUG-2022, entry version 145.
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).
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};
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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 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; Q5RL73; -.
DR PeptideAtlas; Q5RL73; -.
DR PRIDE; Q5RL73; -.
DR ProteomicsDB; 63754; -. [Q5RL73-1]
DR Antibodypedia; 8703; 128 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 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; 1117000at2759; -.
DR PhylomeDB; Q5RL73; -.
DR TreeFam; TF328457; -.
DR PathwayCommons; Q5RL73; -.
DR SignaLink; Q5RL73; -.
DR BioGRID-ORCS; 84060; 493 hits in 1088 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 181 other tissues.
DR ExpressionAtlas; Q5RL73; baseline and differential.
DR Genevisible; Q5RL73; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0003723; F:RNA binding; 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; PTHR20957; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Reference proteome; RNA-binding.
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
