CELF6_HUMAN
ID CELF6_HUMAN Reviewed; 481 AA.
AC Q96J87; B4DG28; B4DJB6; Q6PII4; Q6ZNJ7; Q8N607;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=CUGBP Elav-like family member 6;
DE Short=CELF-6;
DE AltName: Full=Bruno-like protein 6;
DE AltName: Full=CUG-BP- and ETR-3-like factor 6;
DE AltName: Full=RNA-binding protein BRUNOL-6;
GN Name=CELF6; Synonyms=BRUNOL6;
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 [MRNA] (ISOFORM 1).
RC TISSUE=Frontal cortex;
RX PubMed=10893231; DOI=10.1074/jbc.m003083200;
RA Good P.J., Chen Q., Warner S.J., Herring D.C.;
RT "A family of human RNA-binding proteins related to the Drosophila Bruno
RT translational regulator.";
RL J. Biol. Chem. 275:28583-28592(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Bozzali M., Quattrone S., Quattrone A.;
RT "Characterization of the ELAV/BRUNO/TIA superfamily.";
RL Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
RC TISSUE=Amygdala, Spleen, and Subthalamic nucleus;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
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 FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=14761971; DOI=10.1074/jbc.m310687200;
RA Ladd A.N., Nguyen N.H., Malhotra K., Cooper T.A.;
RT "CELF6, a member of the CELF family of RNA-binding proteins, regulates
RT muscle-specific splicing enhancer-dependent alternative splicing.";
RL J. Biol. Chem. 279:17756-17764(2004).
RN [7]
RP STRUCTURE BY NMR OF 31-132.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the N-terminal RNA binding domain in Bruno-like 6
RT RNA-binding protein.";
RL Submitted (SEP-2006) to the PDB data bank.
CC -!- FUNCTION: RNA-binding protein implicated in the regulation of pre-mRNA
CC alternative splicing. Mediates exon inclusion and/or exclusion in pre-
CC mRNA that are subject to tissue-specific and developmentally regulated
CC alternative splicing. Specifically activates exon 5 inclusion of TNNT2
CC in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes
CC also exon exclusion of INSR pre-mRNA. {ECO:0000269|PubMed:14761971}.
CC -!- INTERACTION:
CC Q96J87-2; P05813: CRYBA1; NbExp=3; IntAct=EBI-12832044, EBI-7043337;
CC Q96J87-2; Q15038: DAZAP2; NbExp=3; IntAct=EBI-12832044, EBI-724310;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96J87-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96J87-2; Sequence=VSP_026847, VSP_026848;
CC Name=3;
CC IsoId=Q96J87-3; Sequence=VSP_043245;
CC Name=4;
CC IsoId=Q96J87-4; Sequence=VSP_043242, VSP_043243, VSP_043244;
CC -!- TISSUE SPECIFICITY: Expressed mainly in kidney, brain and testis and
CC present in other tissues albeit at lower levels. Also expressed in
CC fetal kidney. {ECO:0000269|PubMed:14761971}.
CC -!- SIMILARITY: Belongs to the CELF/BRUNOL family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85148.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF401233; AAK95615.1; -; mRNA.
DR EMBL; AF425606; AAL34513.1; -; mRNA.
DR EMBL; AK131098; BAC85148.1; ALT_INIT; mRNA.
DR EMBL; AK294382; BAG57639.1; -; mRNA.
DR EMBL; AK296004; BAG58778.1; -; mRNA.
DR EMBL; AC009690; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030835; AAH30835.1; -; mRNA.
DR EMBL; BC033838; AAH33838.1; -; mRNA.
DR CCDS; CCDS10242.1; -. [Q96J87-1]
DR CCDS; CCDS53955.1; -. [Q96J87-4]
DR CCDS; CCDS53956.1; -. [Q96J87-3]
DR RefSeq; NP_001166155.1; NM_001172684.1. [Q96J87-3]
DR RefSeq; NP_001166156.1; NM_001172685.1. [Q96J87-4]
DR RefSeq; NP_443072.3; NM_052840.4. [Q96J87-1]
DR PDB; 2DGQ; NMR; -; A=38-132.
DR PDBsum; 2DGQ; -.
DR AlphaFoldDB; Q96J87; -.
DR SMR; Q96J87; -.
DR BioGRID; 121952; 3.
DR IntAct; Q96J87; 2.
DR STRING; 9606.ENSP00000287202; -.
DR iPTMnet; Q96J87; -.
DR PhosphoSitePlus; Q96J87; -.
DR BioMuta; CELF6; -.
DR DMDM; 74760888; -.
DR jPOST; Q96J87; -.
DR MassIVE; Q96J87; -.
DR PaxDb; Q96J87; -.
DR PeptideAtlas; Q96J87; -.
DR PRIDE; Q96J87; -.
DR ProteomicsDB; 76902; -. [Q96J87-1]
DR ProteomicsDB; 76903; -. [Q96J87-2]
DR ProteomicsDB; 76904; -. [Q96J87-3]
DR ProteomicsDB; 76905; -. [Q96J87-4]
DR Antibodypedia; 26642; 135 antibodies from 24 providers.
DR DNASU; 60677; -.
DR Ensembl; ENST00000287202.10; ENSP00000287202.5; ENSG00000140488.16. [Q96J87-1]
DR Ensembl; ENST00000395258.7; ENSP00000378677.2; ENSG00000140488.16. [Q96J87-2]
DR Ensembl; ENST00000543764.6; ENSP00000439956.2; ENSG00000140488.16. [Q96J87-4]
DR Ensembl; ENST00000567083.2; ENSP00000457863.1; ENSG00000140488.16. [Q96J87-3]
DR GeneID; 60677; -.
DR KEGG; hsa:60677; -.
DR MANE-Select; ENST00000287202.10; ENSP00000287202.5; NM_052840.5; NP_443072.3.
DR UCSC; uc002auh.3; human. [Q96J87-1]
DR CTD; 60677; -.
DR DisGeNET; 60677; -.
DR GeneCards; CELF6; -.
DR HGNC; HGNC:14059; CELF6.
DR HPA; ENSG00000140488; Low tissue specificity.
DR MIM; 612681; gene.
DR neXtProt; NX_Q96J87; -.
DR OpenTargets; ENSG00000140488; -.
DR PharmGKB; PA25430; -.
DR VEuPathDB; HostDB:ENSG00000140488; -.
DR eggNOG; KOG0146; Eukaryota.
DR GeneTree; ENSGT00940000154201; -.
DR HOGENOM; CLU_015367_0_1_1; -.
DR InParanoid; Q96J87; -.
DR OMA; TPNDYAN; -.
DR OrthoDB; 1209165at2759; -.
DR PhylomeDB; Q96J87; -.
DR TreeFam; TF314924; -.
DR PathwayCommons; Q96J87; -.
DR SignaLink; Q96J87; -.
DR BioGRID-ORCS; 60677; 17 hits in 1068 CRISPR screens.
DR ChiTaRS; CELF6; human.
DR EvolutionaryTrace; Q96J87; -.
DR GenomeRNAi; 60677; -.
DR Pharos; Q96J87; Tbio.
DR PRO; PR:Q96J87; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q96J87; protein.
DR Bgee; ENSG00000140488; Expressed in right uterine tube and 91 other tissues.
DR ExpressionAtlas; Q96J87; baseline and differential.
DR Genevisible; Q96J87; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:1990904; C:ribonucleoprotein complex; IBA:GO_Central.
DR GO; GO:0003729; F:mRNA binding; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR GO; GO:0006376; P:mRNA splice site selection; IBA:GO_Central.
DR GO; GO:0000381; P:regulation of alternative mRNA splicing, via spliceosome; IDA:UniProtKB.
DR CDD; cd12632; RRM1_CELF3_4_5_6; 1.
DR Gene3D; 3.30.70.330; -; 3.
DR InterPro; IPR034648; CELF3/4/5/6_RRM1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR000504; RRM_dom.
DR Pfam; PF00076; RRM_1; 3.
DR SMART; SM00360; RRM; 3.
DR SUPFAM; SSF54928; SSF54928; 2.
DR PROSITE; PS50102; RRM; 3.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cytoplasm; mRNA processing; Nucleus;
KW Reference proteome; Repeat; RNA-binding.
FT CHAIN 1..481
FT /note="CUGBP Elav-like family member 6"
FT /id="PRO_0000295229"
FT DOMAIN 46..127
FT /note="RRM 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 134..214
FT /note="RRM 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 396..474
FT /note="RRM 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT REGION 1..34
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..115
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043242"
FT VAR_SEQ 1..113
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_026847"
FT VAR_SEQ 114..131
FT /note="PGMNRPIQVKPAASEGRG -> MISDPPSNNSWNSVLYLL (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_026848"
FT VAR_SEQ 292
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043243"
FT VAR_SEQ 344..364
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043244"
FT VAR_SEQ 365..391
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043245"
FT VARIANT 152
FT /note="R -> P (in dbSNP:rs34566074)"
FT /id="VAR_033265"
FT CONFLICT 2
FT /note="A -> T (in Ref. 5; AAH30835)"
FT /evidence="ECO:0000305"
FT CONFLICT 469
FT /note="V -> A (in Ref. 5; AAH30835)"
FT /evidence="ECO:0000305"
FT STRAND 47..50
FT /evidence="ECO:0007829|PDB:2DGQ"
FT HELIX 59..66
FT /evidence="ECO:0007829|PDB:2DGQ"
FT TURN 67..69
FT /evidence="ECO:0007829|PDB:2DGQ"
FT STRAND 72..79
FT /evidence="ECO:0007829|PDB:2DGQ"
FT STRAND 81..83
FT /evidence="ECO:0007829|PDB:2DGQ"
FT STRAND 86..96
FT /evidence="ECO:0007829|PDB:2DGQ"
FT HELIX 97..107
FT /evidence="ECO:0007829|PDB:2DGQ"
FT TURN 108..110
FT /evidence="ECO:0007829|PDB:2DGQ"
FT STRAND 122..124
FT /evidence="ECO:0007829|PDB:2DGQ"
SQ SEQUENCE 481 AA; 50477 MW; E11AF3BF1E7FC7A5 CRC64;
MAAAPGGSAQ PAGPGPRLGF STADSGVGMS GLNPGPAVPM KDHDAIKLFV GQIPRGLDEQ
DLKPLFEEFG RIYELTVLKD RLTGLHKGCA FLTYCARDSA LKAQSALHEQ KTLPGMNRPI
QVKPAASEGR GEDRKLFVGM LGKQQGEEDV RRLFQPFGHI EECTVLRSPD GTSKGCAFVK
FGSQGEAQAA IRGLHGSRTM AGASSSLVVK LADTDRERAL RRMQQMAGHL GAFHPAPLPL
GACGAYTTAI LQHQAALLAA AQGPGLGPVA AVAAQMQHVA AFSLVAAPLL PAAAANSPPG
SGPGTLPGLP APIGVNGFGP LTPQTNGQPG SDTLYNNGLS PYPAQSPGVA DPLQQAYAGM
HHYAAAYPSA YAPVSTAFPQ QPSALPQQQR EGPEGCNLFI YHLPQEFGDA ELIQTFLPFG
AVVSAKVFVD RATNQSKCFG FVSFDNPTSA QTAIQAMNGF QIGMKRLKVQ LKRPKDANRP
Y
