RSRC1_HUMAN
ID RSRC1_HUMAN Reviewed; 334 AA.
AC Q96IZ7; A8K2R9; Q96QK2; Q9NZE5;
DT 15-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Serine/Arginine-related protein 53;
DE Short=SRrp53;
DE AltName: Full=Arginine/serine-rich coiled-coil protein 1;
GN Name=RSRC1; Synonyms=SRRP53; ORFNames=BM-011;
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=Tongue;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Prostate, and Urinary bladder;
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-203.
RC TISSUE=Bone marrow;
RA Zhao M., Song H., Li N., Peng Y., Han Z., Chen Z.;
RT "A novel gene expressed in human bone marrow.";
RL Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP FUNCTION, AND INTERACTION WITH RBM39; LUC7L3 AND RSF1.
RX PubMed=15798186; DOI=10.1128/mcb.25.8.2969-2980.2005;
RA Cazalla D., Newton K., Caceres J.F.;
RT "A novel SR-related protein is required for the second step of pre-mRNA
RT splicing.";
RL Mol. Cell. Biol. 25:2969-2980(2005).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [6]
RP FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN MRT70, VARIANT MRT70
RP 60-HIS--ALA-334 DEL, AND CHARACTERIZATION OF VARIANT MRT70 69-ARG--ALA-334
RP DEL.
RX PubMed=29522154; DOI=10.1093/brain/awy045;
RA Perez Y., Menascu S., Cohen I., Kadir R., Basha O., Shorer Z., Romi H.,
RA Meiri G., Rabinski T., Ofir R., Yeger-Lotem E., Birk O.S.;
RT "RSRC1 mutation affects intellect and behaviour through aberrant splicing
RT and transcription, downregulating IGFBP3.";
RL Brain 141:961-970(2018).
RN [7]
RP VARIANT MRT70 90-ARG--ALA-334 DEL.
RX PubMed=28640246; DOI=10.1038/gim.2017.78;
RA Maddirevula S., Alzahrani F., Anazi S., Almureikhi M., Ben-Omran T.,
RA Abdel-Salam G.M.H., Hashem M., Ibrahim N., Abdulwahab F.M., Meriki N.,
RA Bashiri F.A., Thong M.K., Muthukumarasamy P., Azwani Mazlan R., Shaheen R.,
RA Alkuraya F.S.;
RT "GWAS signals revisited using human knockouts.";
RL Genet. Med. 20:64-68(2018).
CC -!- FUNCTION: Has a role in alternative splicing and transcription
CC regulation (PubMed:29522154). Involved in both constitutive and
CC alternative pre-mRNA splicing. May have a role in the recognition of
CC the 3' splice site during the second step of splicing.
CC {ECO:0000269|PubMed:15798186, ECO:0000269|PubMed:29522154}.
CC -!- SUBUNIT: Interacts (via Arg/Ser-rich domain) with LUC7L3, RBM39 and
CC RSF1. {ECO:0000269|PubMed:15798186}.
CC -!- INTERACTION:
CC Q96IZ7; P13473-2: LAMP2; NbExp=3; IntAct=EBI-712189, EBI-21591415;
CC Q96IZ7; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-712189, EBI-5280197;
CC Q96IZ7; P62826: RAN; NbExp=3; IntAct=EBI-712189, EBI-286642;
CC Q96IZ7; A7MD48: SRRM4; NbExp=3; IntAct=EBI-712189, EBI-3867173;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus speckle
CC {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Shuttles between the
CC nucleus and cytoplasm. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96IZ7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96IZ7-2; Sequence=VSP_013120;
CC -!- TISSUE SPECIFICITY: Widely expressed. Expressed in brain, spinal cord,
CC cerebellum. {ECO:0000269|PubMed:29522154}.
CC -!- PTM: Phosphorylated. {ECO:0000250|UniProtKB:Q9DBU6}.
CC -!- DISEASE: Intellectual developmental disorder, autosomal recessive 70
CC (MRT70) [MIM:618402]: A form of intellectual disability, a disorder
CC characterized by significantly below average general intellectual
CC functioning associated with impairments in adaptive behavior and
CC manifested during the developmental period. MRT70 patients manifest
CC impaired intellectual development, mild facial dysmorphism, febrile
CC seizures, and behavioral abnormalities. {ECO:0000269|PubMed:28640246,
CC ECO:0000269|PubMed:29522154}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF64267.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK290334; BAF83023.1; -; mRNA.
DR EMBL; BC006982; AAH06982.1; -; mRNA.
DR EMBL; BC010357; AAH10357.1; -; mRNA.
DR EMBL; AF208853; AAF64267.1; ALT_FRAME; mRNA.
DR CCDS; CCDS3181.1; -. [Q96IZ7-1]
DR CCDS; CCDS63822.1; -. [Q96IZ7-2]
DR RefSeq; NP_001258763.1; NM_001271834.1. [Q96IZ7-2]
DR RefSeq; NP_001258767.1; NM_001271838.1. [Q96IZ7-1]
DR RefSeq; NP_057709.2; NM_016625.3. [Q96IZ7-1]
DR AlphaFoldDB; Q96IZ7; -.
DR BioGRID; 119470; 172.
DR IntAct; Q96IZ7; 36.
DR MINT; Q96IZ7; -.
DR STRING; 9606.ENSP00000481697; -.
DR iPTMnet; Q96IZ7; -.
DR PhosphoSitePlus; Q96IZ7; -.
DR BioMuta; RSRC1; -.
DR DMDM; 61216831; -.
DR EPD; Q96IZ7; -.
DR jPOST; Q96IZ7; -.
DR MassIVE; Q96IZ7; -.
DR MaxQB; Q96IZ7; -.
DR PaxDb; Q96IZ7; -.
DR PeptideAtlas; Q96IZ7; -.
DR PRIDE; Q96IZ7; -.
DR ProteomicsDB; 76879; -. [Q96IZ7-1]
DR ProteomicsDB; 76880; -. [Q96IZ7-2]
DR Antibodypedia; 46770; 82 antibodies from 23 providers.
DR DNASU; 51319; -.
DR Ensembl; ENST00000295930.7; ENSP00000295930.3; ENSG00000174891.14. [Q96IZ7-1]
DR Ensembl; ENST00000312179.10; ENSP00000308671.6; ENSG00000174891.14. [Q96IZ7-2]
DR Ensembl; ENST00000464171.5; ENSP00000419794.1; ENSG00000174891.14. [Q96IZ7-2]
DR Ensembl; ENST00000480820.5; ENSP00000420150.1; ENSG00000174891.14. [Q96IZ7-1]
DR Ensembl; ENST00000611884.5; ENSP00000481697.1; ENSG00000174891.14. [Q96IZ7-1]
DR GeneID; 51319; -.
DR KEGG; hsa:51319; -.
DR MANE-Select; ENST00000611884.5; ENSP00000481697.1; NM_001271838.2; NP_001258767.1.
DR UCSC; uc003fbt.4; human. [Q96IZ7-1]
DR CTD; 51319; -.
DR DisGeNET; 51319; -.
DR GeneCards; RSRC1; -.
DR HGNC; HGNC:24152; RSRC1.
DR HPA; ENSG00000174891; Low tissue specificity.
DR MalaCards; RSRC1; -.
DR MIM; 613352; gene.
DR MIM; 618402; phenotype.
DR neXtProt; NX_Q96IZ7; -.
DR OpenTargets; ENSG00000174891; -.
DR Orphanet; 88616; Autosomal recessive non-syndromic intellectual disability.
DR PharmGKB; PA142670969; -.
DR VEuPathDB; HostDB:ENSG00000174891; -.
DR eggNOG; KOG3406; Eukaryota.
DR GeneTree; ENSGT00730000111251; -.
DR InParanoid; Q96IZ7; -.
DR OrthoDB; 1367755at2759; -.
DR PhylomeDB; Q96IZ7; -.
DR TreeFam; TF336021; -.
DR PathwayCommons; Q96IZ7; -.
DR SignaLink; Q96IZ7; -.
DR BioGRID-ORCS; 51319; 9 hits in 1082 CRISPR screens.
DR ChiTaRS; RSRC1; human.
DR GenomeRNAi; 51319; -.
DR Pharos; Q96IZ7; Tbio.
DR PRO; PR:Q96IZ7; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q96IZ7; protein.
DR Bgee; ENSG00000174891; Expressed in calcaneal tendon and 182 other tissues.
DR ExpressionAtlas; Q96IZ7; baseline and differential.
DR Genevisible; Q96IZ7; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0016607; C:nuclear speck; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0000380; P:alternative mRNA splicing, via spliceosome; IBA:GO_Central.
DR GO; GO:0000398; P:mRNA splicing, via spliceosome; IDA:UniProtKB.
DR GO; GO:0006913; P:nucleocytoplasmic transport; ISS:UniProtKB.
DR GO; GO:0006468; P:protein phosphorylation; IEA:Ensembl.
DR GO; GO:0046677; P:response to antibiotic; IEA:Ensembl.
DR GO; GO:0008380; P:RNA splicing; IDA:MGI.
DR InterPro; IPR034604; SRRP53.
DR PANTHER; PTHR31968; PTHR31968; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Disease variant;
KW Intellectual disability; mRNA processing; mRNA splicing; Nucleus;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..334
FT /note="Serine/Arginine-related protein 53"
FT /id="PRO_0000097496"
FT REGION 1..179
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 201..220
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 243..290
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 180..236
FT /evidence="ECO:0000255"
FT COMPBIAS 47..61
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 62..135
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 136..165
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 258..273
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 108..165
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_013120"
FT VARIANT 69..334
FT /note="Missing (in MRT70; results in highly reduced
FT transcript levels)"
FT /evidence="ECO:0000269|PubMed:29522154"
FT /id="VAR_082245"
FT VARIANT 90..334
FT /note="Missing (in MRT70)"
FT /evidence="ECO:0000269|PubMed:28640246"
FT /id="VAR_082246"
FT CONFLICT 150..151
FT /note="EK -> GE (in Ref. 3; AAF64267)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 334 AA; 38677 MW; DF31CC8C953E790A CRC64;
MGRRSSDTEE ESRSKRKKKH RRRSSSSSSS DSRTYSRKKG GRKSRSKSRS WSRDLQPRSH
SYDRRRRHRS SSSSSYGSRR KRSRSRSRGR GKSYRVQRSR SKSRTRRSRS RPRLRSHSRS
SERSSHRRTR SRSRDRERRK GRDKEKREKE KDKGKDKELH NIKRGESGNI KAGLEHLPPA
EQAKARLQLV LEAAAKADEA LKAKERNEEE AKRRKEEDQA TLVEQVKRVK EIEAIESDSF
VQQTFRSSKE VKKSVEPSEV KQATSTSGPA SAVADPPSTE KEIDPTSIPT AIKYQDDNSL
AHPNLFIEKA DAEEKWFKRL IALRQERLMG SPVA
