ASB18_HUMAN
ID ASB18_HUMAN Reviewed; 466 AA.
AC Q6ZVZ8; B6ZDL7;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Ankyrin repeat and SOCS box protein 18;
DE Short=ASB-18;
GN Name=ASB18;
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 2).
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 GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
CC -!- FUNCTION: May be a substrate-recognition component of a SCF-like ECS
CC (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex
CC which mediates the ubiquitination and subsequent proteasomal
CC degradation of target proteins. {ECO:0000250}.
CC -!- PATHWAY: Protein modification; protein ubiquitination.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZVZ8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZVZ8-2; Sequence=VSP_029621;
CC -!- DOMAIN: The SOCS box domain mediates the interaction with the Elongin
CC BC complex, an adapter module in different E3 ubiquitin-protein ligase
CC complexes. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the ankyrin SOCS box (ASB) family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85710.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};
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DR EMBL; AK123854; BAC85710.1; ALT_SEQ; mRNA.
DR EMBL; AC019068; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC079135; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS46548.1; -. [Q6ZVZ8-1]
DR RefSeq; NP_997721.2; NM_212556.3. [Q6ZVZ8-1]
DR AlphaFoldDB; Q6ZVZ8; -.
DR SMR; Q6ZVZ8; -.
DR BioGRID; 134882; 26.
DR STRING; 9606.ENSP00000386532; -.
DR iPTMnet; Q6ZVZ8; -.
DR PhosphoSitePlus; Q6ZVZ8; -.
DR BioMuta; ASB18; -.
DR DMDM; 162416260; -.
DR PaxDb; Q6ZVZ8; -.
DR PeptideAtlas; Q6ZVZ8; -.
DR PRIDE; Q6ZVZ8; -.
DR ProteomicsDB; 68449; -. [Q6ZVZ8-1]
DR ProteomicsDB; 68450; -. [Q6ZVZ8-2]
DR Antibodypedia; 63013; 10 antibodies from 6 providers.
DR DNASU; 401036; -.
DR Ensembl; ENST00000409749.8; ENSP00000386532.3; ENSG00000182177.15. [Q6ZVZ8-1]
DR Ensembl; ENST00000645891.1; ENSP00000496134.1; ENSG00000182177.15. [Q6ZVZ8-2]
DR GeneID; 401036; -.
DR KEGG; hsa:401036; -.
DR MANE-Select; ENST00000409749.8; ENSP00000386532.3; NM_212556.4; NP_997721.2.
DR UCSC; uc010znh.2; human. [Q6ZVZ8-1]
DR CTD; 401036; -.
DR DisGeNET; 401036; -.
DR GeneCards; ASB18; -.
DR HGNC; HGNC:19770; ASB18.
DR HPA; ENSG00000182177; Group enriched (brain, heart muscle, skeletal muscle).
DR neXtProt; NX_Q6ZVZ8; -.
DR OpenTargets; ENSG00000182177; -.
DR PharmGKB; PA134950797; -.
DR VEuPathDB; HostDB:ENSG00000182177; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000162056; -.
DR HOGENOM; CLU_035721_2_0_1; -.
DR InParanoid; Q6ZVZ8; -.
DR OMA; KPLQNYV; -.
DR OrthoDB; 540084at2759; -.
DR PhylomeDB; Q6ZVZ8; -.
DR TreeFam; TF323921; -.
DR PathwayCommons; Q6ZVZ8; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR Reactome; R-HSA-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR SignaLink; Q6ZVZ8; -.
DR UniPathway; UPA00143; -.
DR BioGRID-ORCS; 401036; 8 hits in 1108 CRISPR screens.
DR ChiTaRS; ASB18; human.
DR GenomeRNAi; 401036; -.
DR Pharos; Q6ZVZ8; Tdark.
DR PRO; PR:Q6ZVZ8; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6ZVZ8; protein.
DR Bgee; ENSG00000182177; Expressed in apex of heart and 38 other tissues.
DR ExpressionAtlas; Q6ZVZ8; baseline and differential.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0035556; P:intracellular signal transduction; IEA:InterPro.
DR GO; GO:0016567; P:protein ubiquitination; IEA:UniProtKB-UniPathway.
DR Gene3D; 1.25.40.20; -; 3.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR037341; ASB18.
DR InterPro; IPR001496; SOCS_box.
DR InterPro; IPR036036; SOCS_box-like_dom_sf.
DR PANTHER; PTHR24118:SF76; PTHR24118:SF76; 1.
DR Pfam; PF12796; Ank_2; 1.
DR Pfam; PF13606; Ank_3; 1.
DR Pfam; PF07525; SOCS_box; 1.
DR SMART; SM00248; ANK; 6.
DR SMART; SM00969; SOCS_box; 1.
DR SUPFAM; SSF158235; SSF158235; 1.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 4.
DR PROSITE; PS50225; SOCS; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Reference proteome; Repeat;
KW Ubl conjugation pathway.
FT CHAIN 1..466
FT /note="Ankyrin repeat and SOCS box protein 18"
FT /id="PRO_0000311875"
FT REPEAT 119..148
FT /note="ANK 1"
FT REPEAT 151..180
FT /note="ANK 2"
FT REPEAT 184..213
FT /note="ANK 3"
FT REPEAT 218..247
FT /note="ANK 4"
FT REPEAT 251..288
FT /note="ANK 5"
FT REPEAT 292..321
FT /note="ANK 6"
FT DOMAIN 405..463
FT /note="SOCS box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00194"
FT VAR_SEQ 1..68
FT /note="MSNSDYLPDYPLNSDLVKRLKSALDAKDEERVRDLICTEITPVDAVIELAND
FT DWMKDPSAQLPTGMLL -> MERQPGPVRGKLQIFQKTEKDPQARAGSPVQEYHTALVA
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029621"
FT VARIANT 104
FT /note="A -> T (in dbSNP:rs6756597)"
FT /id="VAR_048289"
FT VARIANT 127
FT /note="A -> P (in dbSNP:rs7588748)"
FT /id="VAR_037331"
FT VARIANT 261
FT /note="G -> S (in dbSNP:rs6431437)"
FT /id="VAR_059128"
FT VARIANT 407
FT /note="H -> N (in dbSNP:rs10177957)"
FT /id="VAR_048290"
SQ SEQUENCE 466 AA; 50803 MW; 80AA94D1846D4D85 CRC64;
MSNSDYLPDY PLNSDLVKRL KSALDAKDEE RVRDLICTEI TPVDAVIELA NDDWMKDPSA
QLPTGMLLGD LDHLKPLMDQ FFQDANVVFE INKDEMEWQV KSPATFGLSG LWTLEYKREL
TTPLCIAAAH GHTACVRHLL GRGADPDASP GGRGALHEAC LGGHTACVRL LLQHRADPDL
LSAEGLAPLH LCRTAASLGC AQALLEHGAS VQRVGGTGRD TPLHVAAQRG LDEHARLYLG
RGAHVDARNG RGETALSAAC GAARRPDEHG RCLRLCALLL RRGAEADARD EDERSPLHKA
CGHASHSLAR LLLRHGADAG ALDYGGASPL GRVLQTASCA LQASPQRTVQ ALLNHGSPTV
WPDAFPKVLK TCASVPAVIE VLFNSYPQLC LSESWKEVIP EEVFQMHKPF YQSLFALALT
PRCLQHLCRC ALRRLFGKRC FDLIPLLPLP KPLQNYLLLE PQGVLH
