EURL_HUMAN
ID EURL_HUMAN Reviewed; 297 AA.
AC Q9NYK6; B2RB30; Q96BK9; Q9H8C6;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 03-MAR-2009, sequence version 3.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Protein EURL homolog {ECO:0000305};
GN Name=EURL {ECO:0000250|UniProtKB:Q9I8W6};
GN Synonyms=C21orf14 {ECO:0000312|HGNC:HGNC:16459},
GN C21orf38 {ECO:0000312|HGNC:HGNC:16459},
GN C21orf91 {ECO:0000312|HGNC:HGNC:16459}, YG81;
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 2).
RA Choi D.K., Taylor T.D., Hattori M., Sakaki Y.;
RT "Construction of a transcript map in the LL56-APP region of chromosome
RT 21q21.1-21.2.";
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP GLU-136.
RC TISSUE=Brain, and Placenta;
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=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
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 3), AND VARIANT GLU-136.
RC TISSUE=Skin;
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 TISSUE SPECIFICITY.
RX PubMed=27404227; DOI=10.1038/srep29514;
RA Li S.S., Qu Z., Haas M., Ngo L., Heo Y.J., Kang H.J., Britto J.M.,
RA Cullen H.D., Vanyai H.K., Tan S.S., Chan-Ling T., Gunnersen J.M.,
RA Heng J.I.;
RT "The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral
RT cortex and is implicated in the pathogenesis of Down Syndrome.";
RL Sci. Rep. 6:29514-29514(2016).
CC -!- FUNCTION: Plays a role in cortical progenitor cell proliferation and
CC differentiation. Promotes dendritic spine development of post-migratory
CC cortical projection neurons by modulating the beta-catenin signaling
CC pathway. {ECO:0000250|UniProtKB:Q9D7G4}.
CC -!- SUBUNIT: Interacts with CCDC85B. {ECO:0000250|UniProtKB:Q9D7G4}.
CC -!- INTERACTION:
CC Q9NYK6-3; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-13371226, EBI-396137;
CC Q9NYK6-3; Q9H8Y8: GORASP2; NbExp=5; IntAct=EBI-13371226, EBI-739467;
CC Q9NYK6-3; Q7Z3B4: NUP54; NbExp=3; IntAct=EBI-13371226, EBI-741048;
CC Q9NYK6-3; O43482: OIP5; NbExp=3; IntAct=EBI-13371226, EBI-536879;
CC Q9NYK6-3; Q9UIL1-3: SCOC; NbExp=3; IntAct=EBI-13371226, EBI-10692913;
CC Q9NYK6-3; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-13371226, EBI-5235340;
CC Q9NYK6-3; Q9BT92: TCHP; NbExp=3; IntAct=EBI-13371226, EBI-740781;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NYK6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NYK6-2; Sequence=VSP_036451;
CC Name=3;
CC IsoId=Q9NYK6-3; Sequence=VSP_036452;
CC -!- TISSUE SPECIFICITY: Expressed in the brain (PubMed:27404227). Expressed
CC in cortical cells of the germinal ventricular zone and the cortical
CC plate. Underexpressed in the dorsolateral prefrontal cortex, primary
CC visual cortex and cerebellar cortex compared with Down Syndrome
CC patients (at protein level) (PubMed:27404227).
CC {ECO:0000269|PubMed:27404227}.
CC -!- SIMILARITY: Belongs to the EURL family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14691.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF239726; AAF44695.1; -; mRNA.
DR EMBL; AK023825; BAB14691.1; ALT_SEQ; mRNA.
DR EMBL; AK314471; BAG37077.1; -; mRNA.
DR EMBL; AL109761; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471079; EAX10020.1; -; Genomic_DNA.
DR EMBL; BC015468; AAH15468.1; -; mRNA.
DR CCDS; CCDS42907.1; -. [Q9NYK6-1]
DR CCDS; CCDS42908.1; -. [Q9NYK6-3]
DR CCDS; CCDS42909.1; -. [Q9NYK6-2]
DR RefSeq; NP_001093890.1; NM_001100420.1. [Q9NYK6-1]
DR RefSeq; NP_001093891.1; NM_001100421.1. [Q9NYK6-2]
DR RefSeq; NP_059143.3; NM_017447.3. [Q9NYK6-3]
DR AlphaFoldDB; Q9NYK6; -.
DR SMR; Q9NYK6; -.
DR BioGRID; 119919; 15.
DR IntAct; Q9NYK6; 10.
DR STRING; 9606.ENSP00000284881; -.
DR iPTMnet; Q9NYK6; -.
DR PhosphoSitePlus; Q9NYK6; -.
DR BioMuta; C21orf91; -.
DR DMDM; 224471889; -.
DR EPD; Q9NYK6; -.
DR jPOST; Q9NYK6; -.
DR MassIVE; Q9NYK6; -.
DR MaxQB; Q9NYK6; -.
DR PaxDb; Q9NYK6; -.
DR PeptideAtlas; Q9NYK6; -.
DR PRIDE; Q9NYK6; -.
DR ProteomicsDB; 83243; -. [Q9NYK6-1]
DR ProteomicsDB; 83245; -. [Q9NYK6-3]
DR Antibodypedia; 4857; 93 antibodies from 15 providers.
DR DNASU; 54149; -.
DR Ensembl; ENST00000284881.9; ENSP00000284881.4; ENSG00000154642.11. [Q9NYK6-1]
DR Ensembl; ENST00000400558.7; ENSP00000383403.3; ENSG00000154642.11. [Q9NYK6-2]
DR Ensembl; ENST00000400559.7; ENSP00000383404.3; ENSG00000154642.11. [Q9NYK6-3]
DR GeneID; 54149; -.
DR KEGG; hsa:54149; -.
DR MANE-Select; ENST00000284881.9; ENSP00000284881.4; NM_001100420.2; NP_001093890.1.
DR UCSC; uc002yko.4; human. [Q9NYK6-1]
DR CTD; 54149; -.
DR DisGeNET; 54149; -.
DR GeneCards; C21orf91; -.
DR HGNC; HGNC:16459; C21orf91.
DR HPA; ENSG00000154642; Tissue enhanced (brain).
DR neXtProt; NX_Q9NYK6; -.
DR OpenTargets; ENSG00000154642; -.
DR PharmGKB; PA25879; -.
DR VEuPathDB; HostDB:ENSG00000154642; -.
DR eggNOG; ENOG502QS2B; Eukaryota.
DR GeneTree; ENSGT00390000002429; -.
DR HOGENOM; CLU_059941_0_0_1; -.
DR InParanoid; Q9NYK6; -.
DR OMA; PWLQIGR; -.
DR PhylomeDB; Q9NYK6; -.
DR TreeFam; TF331712; -.
DR PathwayCommons; Q9NYK6; -.
DR SignaLink; Q9NYK6; -.
DR BioGRID-ORCS; 54149; 9 hits in 1057 CRISPR screens.
DR ChiTaRS; C21orf91; human.
DR GenomeRNAi; 54149; -.
DR Pharos; Q9NYK6; Tbio.
DR PRO; PR:Q9NYK6; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q9NYK6; protein.
DR Bgee; ENSG00000154642; Expressed in sperm and 186 other tissues.
DR ExpressionAtlas; Q9NYK6; baseline and differential.
DR Genevisible; Q9NYK6; HS.
DR GO; GO:0021895; P:cerebral cortex neuron differentiation; ISS:UniProtKB.
DR GO; GO:0060999; P:positive regulation of dendritic spine development; ISS:UniProtKB.
DR InterPro; IPR009704; EURL_prot.
DR PANTHER; PTHR15961; PTHR15961; 1.
DR Pfam; PF06937; EURL; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Differentiation; Neurogenesis;
KW Reference proteome.
FT CHAIN 1..297
FT /note="Protein EURL homolog"
FT /id="PRO_0000087077"
FT REGION 194..216
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 227..256
FT /evidence="ECO:0000255"
FT COMPBIAS 201..216
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 222..297
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.1"
FT /id="VSP_036451"
FT VAR_SEQ 243
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_036452"
FT VARIANT 115
FT /note="N -> K (in dbSNP:rs2824495)"
FT /id="VAR_054506"
FT VARIANT 117
FT /note="Q -> R (in dbSNP:rs1047976)"
FT /id="VAR_011631"
FT VARIANT 136
FT /note="D -> E (in dbSNP:rs1047978)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_011632"
FT VARIANT 195
FT /note="Q -> H (in dbSNP:rs8128004)"
FT /id="VAR_054507"
FT VARIANT 217
FT /note="Y -> H (in dbSNP:rs2824494)"
FT /id="VAR_054508"
FT CONFLICT 24
FT /note="G -> E (in Ref. 2; BAB14691)"
FT /evidence="ECO:0000305"
FT CONFLICT 102
FT /note="Q -> K (in Ref. 1; AAF44695)"
FT /evidence="ECO:0000305"
FT CONFLICT 214
FT /note="H -> Y (in Ref. 2; BAB14691)"
FT /evidence="ECO:0000305"
FT CONFLICT 249
FT /note="T -> P (in Ref. 2; BAB14691)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 297 AA; 33948 MW; 01602977BEA83B8F CRC64;
MNEEEQFVNI DLNDDNICSV CKLGTDKETL SFCHICFELN IEGVPKSDLL HTKSLRGHKD
CFEKYHLIAN QGCPRSKLSK STYEEVKTIL SKKINWIVQY AQNKDLDSDS ECSKNPQHHL
FNFRHKPEEK LLPQFDSQVP KYSAKWIDGS AGGISNCTQR ILEQRENTDF GLSMLQDSGA
TLCRNSVLWP HSHNQAQKKE ETISSPEANV QTQHPHYSRE ELNSMTLGEV EQLNAKLLQQ
IQEVFEELTH QVQEKDSLAS QLHVRHVAIE QLLKNCSKLP CLQVGRTGMK SHLPINN
