Entry euk:SRRM4_HUMAN

ID   SRRM4_HUMAN             Reviewed;         611 AA.
AC   A7MD48; A8K5P6; B2RZH7; Q7Z5F0; Q96JH4;
DT   04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT   15-DEC-2009, sequence version 2.
DT   15-MAR-2017, entry version 73.
DE   RecName: Full=Serine/arginine repetitive matrix protein 4;
DE   AltName: Full=Medulloblastoma antigen MU-MB-2.76;
DE   AltName: Full=Neural-specific serine/arginine repetitive splicing factor of 100 kDa;
DE            Short=Neural-specific SR-related protein of 100 kDa;
DE            Short=nSR100;
GN   Name=SRRM4; Synonyms=KIAA1853;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA   Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XX.
RT   The complete sequences of 100 new cDNA clones from brain which code
RT   for large proteins in vitro.";
RL   DNA Res. 8:85-95(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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 MRNA].
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 522-611, AND TISSUE SPECIFICITY.
RC   TISSUE=Medulloblastoma;
RX   PubMed=12800201; DOI=10.1002/ijc.11208;
RA   Behrends U., Schneider I., Roessler S., Frauenknecht H., Golbeck A.,
RA   Lechner B., Eigenstetter G., Zobywalski C., Mueller-Weihrich S.,
RA   Graubner U., Schmid I., Sackerer D., Spaeth M., Goetz C., Prantl F.,
RA   Asmuss H.-P., Bise K., Mautner J.;
RT   "Novel tumor antigens identified by autologous antibody screening of
RT   childhood medulloblastoma cDNA libraries.";
RL   Int. J. Cancer 106:244-251(2003).
RN   [5]
RP   TISSUE SPECIFICITY.
RX   PubMed=19737518; DOI=10.1016/j.cell.2009.06.012;
RA   Calarco J.A., Superina S., O'Hanlon D., Gabut M., Raj B., Pan Q.,
RA   Skalska U., Clarke L., Gelinas D., van der Kooy D., Zhen M.,
RA   Ciruna B., Blencowe B.J.;
RT   "Regulation of vertebrate nervous system alternative splicing and
RT   development by an SR-related protein.";
RL   Cell 138:898-910(2009).
CC   -!- FUNCTION: Splicing factor specifically required for neural cell
CC       differentiation. Acts in conjuction with nPTB/PTBP2 by binding
CC       directly to its regulated target transcripts and promotes neural-
CC       specific exon inclusion in many genes that function in neural cell
CC       differentiation. Required to promote the inclusion of neural-
CC       specific exon 10 in nPTB/PTBP2, leading to increased expression of
CC       neural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16
CC       in DAAM1 in neuron extracts (By similarity). {ECO:0000250}.
CC   -!- INTERACTION:
CC       Q02040:AKAP17A; NbExp=4; IntAct=EBI-3867173, EBI-1042725;
CC       Q9P127:LUZP4; NbExp=4; IntAct=EBI-3867173, EBI-10198848;
CC       Q05519-2:SRSF11; NbExp=4; IntAct=EBI-3867173, EBI-11975029;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC   -!- TISSUE SPECIFICITY: Specifically expressed in neuronal cells (at
CC       protein level). Expressed in the cerebellum.
CC       {ECO:0000269|PubMed:12800201, ECO:0000269|PubMed:19737518}.
CC   -!- PTM: Phosphorylated. {ECO:0000250}.
CC   -!- SIMILARITY: Belongs to the nSR100 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAB47482.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; AB058756; BAB47482.1; ALT_INIT; mRNA.
DR   EMBL; AK291361; BAF84050.1; -; mRNA.
DR   EMBL; AC087885; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC084361; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC152471; AAI52472.1; -; mRNA.
DR   EMBL; BC167162; AAI67162.1; -; mRNA.
DR   EMBL; BC167163; AAI67163.1; -; mRNA.
DR   EMBL; AY130006; AAN05090.1; -; mRNA.
DR   CCDS; CCDS44994.1; -.
DR   RefSeq; NP_919262.2; NM_194286.3.
DR   UniGene; Hs.744964; -.
DR   ProteinModelPortal; A7MD48; -.
DR   BioGrid; 124121; 1.
DR   IntAct; A7MD48; 28.
DR   STRING; 9606.ENSP00000267260; -.
DR   iPTMnet; A7MD48; -.
DR   PhosphoSitePlus; A7MD48; -.
DR   BioMuta; SRRM4; -.
DR   PaxDb; A7MD48; -.
DR   PRIDE; A7MD48; -.
DR   DNASU; 84530; -.
DR   Ensembl; ENST00000267260; ENSP00000267260; ENSG00000139767.
DR   GeneID; 84530; -.
DR   KEGG; hsa:84530; -.
DR   CTD; 84530; -.
DR   DisGeNET; 84530; -.
DR   GeneCards; SRRM4; -.
DR   H-InvDB; HIX0011050; -.
DR   HGNC; HGNC:29389; SRRM4.
DR   HPA; HPA052783; -.
DR   MIM; 613103; gene.
DR   neXtProt; NX_A7MD48; -.
DR   OpenTargets; ENSG00000139767; -.
DR   PharmGKB; PA165513415; -.
DR   eggNOG; ENOG410IEGN; Eukaryota.
DR   eggNOG; ENOG4112C96; LUCA.
DR   GeneTree; ENSGT00730000111247; -.
DR   HOGENOM; HOG000013098; -.
DR   HOVERGEN; HBG108046; -.
DR   InParanoid; A7MD48; -.
DR   OMA; PCLECAE; -.
DR   OrthoDB; EOG091G0FNP; -.
DR   PhylomeDB; A7MD48; -.
DR   ChiTaRS; SRRM4; human.
DR   GenomeRNAi; 84530; -.
DR   PRO; PR:A7MD48; -.
DR   Proteomes; UP000005640; Chromosome 12.
DR   Bgee; ENSG00000139767; -.
DR   CleanEx; HS_KIAA1853; -.
DR   ExpressionAtlas; A7MD48; baseline and differential.
DR   Genevisible; A7MD48; HS.
DR   GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR   GO; GO:0003729; F:mRNA binding; ISS:UniProtKB.
DR   GO; GO:0030154; P:cell differentiation; ISS:UniProtKB.
DR   GO; GO:0006397; P:mRNA processing; ISS:UniProtKB.
DR   GO; GO:0007399; P:nervous system development; ISS:UniProtKB.
DR   GO; GO:0000381; P:regulation of alternative mRNA splicing, via spliceosome; IEA:Ensembl.
DR   GO; GO:0043484; P:regulation of RNA splicing; ISS:UniProtKB.
DR   GO; GO:0008380; P:RNA splicing; IEA:UniProtKB-KW.
DR   GO; GO:0007605; P:sensory perception of sound; IEA:Ensembl.
DR   InterPro; IPR029360; SRRM_C.
DR   Pfam; PF15230; SRRM_C; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Differentiation; mRNA processing; mRNA splicing;
KW   Nucleus; Phosphoprotein; Polymorphism; Reference proteome;
KW   RNA-binding.
FT   CHAIN         1    611       Serine/arginine repetitive matrix protein
FT                                4.
FT                                /FTId=PRO_0000311911.
FT   COMPBIAS    109    171       Lys-rich.
FT   COMPBIAS    123    608       Ser-rich.
FT   COMPBIAS    442    598       Arg-rich.
FT   VARIANT     243    243       S -> N (in dbSNP:rs7297606).
FT                                /FTId=VAR_037339.
FT   VARIANT     406    406       R -> Q (in dbSNP:rs2723880).
FT                                /FTId=VAR_037340.
FT   VARIANT     547    547       R -> S (in dbSNP:rs2555273).
FT                                /FTId=VAR_037341.
FT   CONFLICT    553    553       R -> W (in Ref. 1; BAB47482 and 3;
FT                                AAI52472/AAI67162/AAI67163).
FT                                {ECO:0000305}.
CC   --------------------------------------------------------------------------
CC   The following FT lines are automated annotations from the MyHits database.
CC   --------------------------------------------------------------------------
FT   MYHIT       457    522       ipfam:SRRM_C [T]
SQ   SEQUENCE   611 AA;  68559 MW;  2D8B551D7C9DE43D CRC64;
     MASVQQGEKQ LFEKFWRGTF KAVATPRPES IIVASITARK PLPRTEPQNN PVVPAQDGPS
     EKLGQHLATE PLGTNSWERD KTCRELGATR GHSASHDKDL TPPPSSRGKK KKKKSTRKKR
     RRSSSYSPSP VKKKKKKSSK KHKRRRSFSK KRRHSSSSPK SKRRDEKRHK KQSRSRPRKS
     HRHRHHRCPS RSQSSESRPS SCESRHRGRS PEEGQKSRRR HSRRCSKTLC KDSPEAQSSR
     PPSQPLQMLG YLSARGVITG SGSAADLFTK TASPLTTSRG RSQEYDSGND TSSPPSTQTS
     SARSRGQEKG SPSGGLSKSR ELNSGNTSDS GNSFTTSSPQ NKGAMLENLS PTSRGRESRG
     FQSPCLECAE VKKSSLVPST ARSSPMKGCS RSSSYASTRS SSHSSRSPNP RASPRYTQSR
     STSSEKRSYS RSPSYSSKSG KRSPPSRSSR SRRSPSYSRY SPSRERDPKY SEKDSQQRER
     ERARRRRRSY SPMRKRRRDS PSHLEARRIT SARKRPIPYY RPSPSSSGSL SSTSSWYSSS
     SSRSASRSYS RSRSRSRSRR RSRTRTSSSS SSRSPSPGSR SRSRSRSRSR SRSRSQSRSY
     SSADSYSSTR R
//