NEUL2_HUMAN
ID NEUL2_HUMAN Reviewed; 285 AA.
AC Q9BR09; Q3KR34;
DT 25-JUL-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Neuralized-like protein 2;
GN Name=NEURL2; Synonyms=C20orf163;
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].
RC TISSUE=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 [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Skeletal muscle;
RA Frigimelica E., Lanfranchi G.;
RT "Full-length sequencing of some human and murine muscular transcripts
RT (Telethon Italy project B41).";
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP TISSUE SPECIFICITY.
RX PubMed=14960280; DOI=10.1016/s1534-5807(04)00020-6;
RA Nastasi T., Bongiovanni A., Campos Y., Mann L., Toy J.N., Bostrom J.,
RA Rottier R., Hahn C., Conaway J.W., Harris A.J., D'Azzo A.;
RT "Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin
RT degradation during myogenesis.";
RL Dev. Cell 6:269-282(2004).
CC -!- FUNCTION: Plays an important role in the process of myofiber
CC differentiation and maturation. Probable substrate-recognition
CC component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3
CC ubiquitin-protein ligase complex, which mediates the ubiquitination of
CC proteins. Probably contributes to catalysis through recognition and
CC positioning of the substrate and the ubiquitin-conjugating enzyme.
CC During myogenesis, controls the ubiquitination and degradation of the
CC specific pool of CTNNB1/beta-catenin located at the sarcolemma (By
CC similarity). {ECO:0000250}.
CC -!- PATHWAY: Protein modification; protein ubiquitination.
CC -!- SUBUNIT: Probable component the ECS(NEURL2) E3 ubiquitin-protein ligase
CC complex consisting of ELOB/Elongin B, ELOC/Elongin C, CUL5, RBX1 and
CC NEURL2. Interacts with CTNNB1 (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed specifically in skeletal and cardiac
CC muscles. {ECO:0000269|PubMed:14960280}.
CC -!- DOMAIN: The SOCS domain mediates the interaction with ELOB and ELOC,
CC while the NHR domain may be involved in ubiquitination substrate
CC binding. {ECO:0000250}.
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DR EMBL; AK054821; BAB70810.1; -; mRNA.
DR EMBL; AJ295985; CAC82498.1; -; mRNA.
DR EMBL; AL008726; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC074737; AAH74737.1; -; mRNA.
DR EMBL; BC105935; AAI05936.1; -; mRNA.
DR EMBL; BC107485; AAI07486.1; -; mRNA.
DR CCDS; CCDS13384.1; -.
DR RefSeq; NP_001265464.1; NM_001278535.1.
DR RefSeq; NP_542787.1; NM_080749.3.
DR AlphaFoldDB; Q9BR09; -.
DR SMR; Q9BR09; -.
DR BioGRID; 126719; 3.
DR STRING; 9606.ENSP00000361596; -.
DR BioMuta; NEURL2; -.
DR DMDM; 33301415; -.
DR MassIVE; Q9BR09; -.
DR PaxDb; Q9BR09; -.
DR PeptideAtlas; Q9BR09; -.
DR PRIDE; Q9BR09; -.
DR ProteomicsDB; 78735; -.
DR Antibodypedia; 27828; 92 antibodies from 24 providers.
DR DNASU; 140825; -.
DR Ensembl; ENST00000372518.5; ENSP00000361596.4; ENSG00000124257.7.
DR GeneID; 140825; -.
DR KEGG; hsa:140825; -.
DR MANE-Select; ENST00000372518.5; ENSP00000361596.4; NM_080749.4; NP_542787.1.
DR UCSC; uc002xqg.3; human.
DR CTD; 140825; -.
DR DisGeNET; 140825; -.
DR GeneCards; NEURL2; -.
DR HGNC; HGNC:16156; NEURL2.
DR HPA; ENSG00000124257; Tissue enhanced (kidney).
DR MIM; 608597; gene.
DR neXtProt; NX_Q9BR09; -.
DR OpenTargets; ENSG00000124257; -.
DR PharmGKB; PA25705; -.
DR VEuPathDB; HostDB:ENSG00000124257; -.
DR eggNOG; KOG4625; Eukaryota.
DR GeneTree; ENSGT00940000159689; -.
DR HOGENOM; CLU_091737_1_0_1; -.
DR InParanoid; Q9BR09; -.
DR OMA; RIGIIYV; -.
DR OrthoDB; 1185754at2759; -.
DR PhylomeDB; Q9BR09; -.
DR TreeFam; TF314368; -.
DR PathwayCommons; Q9BR09; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR SignaLink; Q9BR09; -.
DR UniPathway; UPA00143; -.
DR BioGRID-ORCS; 140825; 10 hits in 1072 CRISPR screens.
DR GeneWiki; NEURL2; -.
DR GenomeRNAi; 140825; -.
DR Pharos; Q9BR09; Tdark.
DR PRO; PR:Q9BR09; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9BR09; protein.
DR Bgee; ENSG00000124257; Expressed in apex of heart and 121 other tissues.
DR ExpressionAtlas; Q9BR09; baseline and differential.
DR Genevisible; Q9BR09; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0061630; F:ubiquitin protein ligase activity; IBA:GO_Central.
DR GO; GO:0035556; P:intracellular signal transduction; IEA:InterPro.
DR Gene3D; 2.60.120.920; -; 1.
DR InterPro; IPR043136; B30.2/SPRY_sf.
DR InterPro; IPR037962; Neuralized.
DR InterPro; IPR006573; NHR_dom.
DR InterPro; IPR001496; SOCS_box.
DR InterPro; IPR036036; SOCS_box-like_dom_sf.
DR PANTHER; PTHR12429; PTHR12429; 1.
DR Pfam; PF07177; Neuralized; 1.
DR Pfam; PF07525; SOCS_box; 1.
DR SMART; SM00588; NEUZ; 1.
DR SMART; SM00969; SOCS_box; 1.
DR SUPFAM; SSF158235; SSF158235; 1.
DR PROSITE; PS51065; NHR; 1.
DR PROSITE; PS50225; SOCS; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Reference proteome; Ubl conjugation pathway.
FT CHAIN 1..285
FT /note="Neuralized-like protein 2"
FT /id="PRO_0000181257"
FT DOMAIN 23..244
FT /note="NHR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00400"
FT DOMAIN 250..285
FT /note="SOCS box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00194"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 211
FT /note="E -> K (in dbSNP:rs35342327)"
FT /id="VAR_052033"
SQ SEQUENCE 285 AA; 31690 MW; 6C79A17CC41BF180 CRC64;
MAAASEPVDS GALWGLERPE PPPTRFHRVH GANIRVDPSG TRATRVESFA HGVCFSREPL
APGQVFLVEI EEKELGWCGH LRLGLTALDP ASLAPVPEFS LPDLVNLGHT WVFAITRHHN
RVPREGRPEA EAAAPSRPPT LLVEPYLRIE QFRIPRDRLV GRSRPGLYSH LLDQLYELNV
LPPTARRSRL GVLFCPRPDG TADMHIIING EDMGPSARGL PAAQPLYAVV DVFASTKSVR
LVQLEYGLPS LQTLCRLVIQ RSMVHRLAID GLHLPKELKD FCKYE
