SOBP_HUMAN
ID SOBP_HUMAN Reviewed; 873 AA.
AC A7XYQ1; B0QZ12; Q5BJD4; Q8N2B2;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Sine oculis-binding protein homolog;
DE AltName: Full=Jackson circler protein 1;
GN Name=SOBP {ECO:0000312|EMBL:AAH91526.2};
GN Synonyms=JXC1 {ECO:0000312|EMBL:ABF72848.1};
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] {ECO:0000312|EMBL:ABF72848.1}
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT GLY-683.
RA Chen Z., Noben-Trauth K.;
RT "Mutations in Jxc1 cause deafness, vestibular deficits and cochlear
RT malformation in the Jackson circler (jc) mutant mouse.";
RL Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3] {ECO:0000312|EMBL:BAC03537.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-224.
RC TISSUE=Amygdala {ECO:0000312|EMBL:BAC03537.1};
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] {ECO:0000312|EMBL:AAH91526.2}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-140.
RC TISSUE=Brain {ECO:0000312|EMBL:AAH91526.2};
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 INVOLVEMENT IN MRAMS.
RX PubMed=21035105; DOI=10.1016/j.ajhg.2010.10.005;
RA Birk E., Har-Zahav A., Manzini C.M., Pasmanik-Chor M., Kornreich L.,
RA Walsh C.A., Noben-Trauth K., Albin A., Simon A.J., Colleaux L., Morad Y.,
RA Rainshtein L., Tischfield D.J., Wang P., Magal N., Maya I., Shoshani N.,
RA Rechavi G., Gothelf D., Maydan G., Shohat M., Basel-Vanagaite L.;
RT "SOBP is mutated in syndromic and nonsyndromic intellectual disability and
RT is highly expressed in the brain limbic system.";
RL Am. J. Hum. Genet. 87:694-700(2010).
RN [6]
RP IDENTIFICATION OF REPEAT SUMO-INTERACTING MOTIF, AND INTERACTION WITH SUMO1
RP AND SUMO2.
RX PubMed=23086935; DOI=10.1074/jbc.m112.410985;
RA Sun H., Hunter T.;
RT "PolySUMO-binding proteins identified through a string search.";
RL J. Biol. Chem. 287:42071-42083(2012).
RN [7]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-677, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- FUNCTION: Implicated in development of the cochlea.
CC {ECO:0000250|UniProtKB:Q0P5V2}.
CC -!- SUBUNIT: Interacts (via SIM domains) with SUMO1 and SUMO2.
CC {ECO:0000269|PubMed:23086935}.
CC -!- DISEASE: Intellectual disability, anterior maxillary protrusion, and
CC strabismus (MRAMS) [MIM:613671]: A syndrome characterized by severe
CC intellectual disability, strabismus and dysmorphic features such as
CC anterior maxillary protrusion with vertical maxillary excess, open bite
CC and prominent crowded teeth. Some patients may lack dysmorphic features
CC and manifest temporal lobe epilepsy and psychosis. Esotropia and
CC amblyopia are present in some individuals.
CC {ECO:0000269|PubMed:21035105}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the SOBP family. {ECO:0000255}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH91526.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC Sequence=BAC03537.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; DQ507800; ABF72848.1; -; mRNA.
DR EMBL; AL096816; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL671934; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL121957; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK090879; BAC03537.1; ALT_SEQ; mRNA.
DR EMBL; BC091526; AAH91526.2; ALT_SEQ; mRNA.
DR CCDS; CCDS43488.1; -.
DR RefSeq; NP_060483.3; NM_018013.3.
DR AlphaFoldDB; A7XYQ1; -.
DR BioGRID; 120399; 6.
DR IntAct; A7XYQ1; 4.
DR MINT; A7XYQ1; -.
DR STRING; 9606.ENSP00000318900; -.
DR iPTMnet; A7XYQ1; -.
DR PhosphoSitePlus; A7XYQ1; -.
DR BioMuta; SOBP; -.
DR jPOST; A7XYQ1; -.
DR MassIVE; A7XYQ1; -.
DR MaxQB; A7XYQ1; -.
DR PaxDb; A7XYQ1; -.
DR PeptideAtlas; A7XYQ1; -.
DR PRIDE; A7XYQ1; -.
DR ProteomicsDB; 1816; -.
DR Antibodypedia; 32175; 60 antibodies from 14 providers.
DR DNASU; 55084; -.
DR Ensembl; ENST00000317357.10; ENSP00000318900.5; ENSG00000112320.12.
DR GeneID; 55084; -.
DR KEGG; hsa:55084; -.
DR MANE-Select; ENST00000317357.10; ENSP00000318900.5; NM_018013.4; NP_060483.3.
DR UCSC; uc003prx.4; human.
DR CTD; 55084; -.
DR DisGeNET; 55084; -.
DR GeneCards; SOBP; -.
DR HGNC; HGNC:29256; SOBP.
DR HPA; ENSG00000112320; Low tissue specificity.
DR MalaCards; SOBP; -.
DR MIM; 613667; gene.
DR MIM; 613671; phenotype.
DR neXtProt; NX_A7XYQ1; -.
DR OpenTargets; ENSG00000112320; -.
DR Orphanet; 562559; Anterior maxillary protrusion-strabismus-intellectual disability syndrome.
DR PharmGKB; PA162404346; -.
DR VEuPathDB; HostDB:ENSG00000112320; -.
DR eggNOG; ENOG502QZ8A; Eukaryota.
DR GeneTree; ENSGT00940000154164; -.
DR HOGENOM; CLU_012732_0_0_1; -.
DR InParanoid; A7XYQ1; -.
DR OMA; MAPCVIS; -.
DR OrthoDB; 184811at2759; -.
DR PhylomeDB; A7XYQ1; -.
DR TreeFam; TF324359; -.
DR PathwayCommons; A7XYQ1; -.
DR SignaLink; A7XYQ1; -.
DR BioGRID-ORCS; 55084; 7 hits in 1065 CRISPR screens.
DR ChiTaRS; SOBP; human.
DR GeneWiki; Sobp; -.
DR GenomeRNAi; 55084; -.
DR Pharos; A7XYQ1; Tbio.
DR PRO; PR:A7XYQ1; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; A7XYQ1; protein.
DR Bgee; ENSG00000112320; Expressed in endothelial cell and 205 other tissues.
DR ExpressionAtlas; A7XYQ1; baseline and differential.
DR Genevisible; A7XYQ1; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0032184; F:SUMO polymer binding; IEA:Ensembl.
DR GO; GO:0048513; P:animal organ development; IBA:GO_Central.
DR GO; GO:0090102; P:cochlea development; IEA:Ensembl.
DR GO; GO:0050890; P:cognition; IMP:HGNC.
DR GO; GO:0042472; P:inner ear morphogenesis; IBA:GO_Central.
DR GO; GO:0007626; P:locomotory behavior; IEA:Ensembl.
DR GO; GO:0007605; P:sensory perception of sound; IEA:Ensembl.
DR InterPro; IPR026092; RAI2/SOBP.
DR PANTHER; PTHR23186; PTHR23186; 1.
DR Pfam; PF15279; SOBP; 1.
PE 1: Evidence at protein level;
KW Intellectual disability; Isopeptide bond; Metal-binding; Phosphoprotein;
KW Reference proteome; Repeat; Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..873
FT /note="Sine oculis-binding protein homolog"
FT /id="PRO_0000312232"
FT ZN_FING 142..180
FT /note="FCS-type 1"
FT /evidence="ECO:0000255"
FT ZN_FING 216..256
FT /note="FCS-type 2"
FT /evidence="ECO:0000255"
FT REGION 1..26
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 308..339
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 413..484
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 550..646
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 730..771
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 620..624
FT /note="SUMO interaction motif 1 (SIM); mediates the binding
FT to polysumoylated substrates"
FT MOTIF 653..657
FT /note="SUMO interaction motif 2 (SIM); mediates the binding
FT to polysumoylated substrates"
FT COMPBIAS 315..339
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 429..444
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 456..484
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 550..564
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 582..601
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 739..758
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 629
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q0P5V2"
FT MOD_RES 699
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q0P5V2"
FT CROSSLNK 677
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VARIANT 683
FT /note="S -> G (in dbSNP:rs9486659)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_062215"
FT CONFLICT 623
FT /note="L -> M (in Ref. 1; ABF72848)"
FT /evidence="ECO:0000305"
FT CONFLICT 646
FT /note="L -> M (in Ref. 1; ABF72848)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 873 AA; 92658 MW; 894DEF718F6E0CB0 CRC64;
MAEMEKEGRP PENKRSRKPA HPVKREINEE MKNFAENTMN ELLGWYGYDK VELKDGEDIE
FRSYPTDGES RQHISVLKEN SLPKPKLPED SVISPYNIST GYSGLATGNG LSDSPAGSKD
HGSVPIIVPL IPPPFIKPPA EDDVSNVQIM CAWCQKVGIK RYSLSMGSEV KSFCSEKCFA
ACRRAYFKRN KARDEDGHAE NFPQQHYAKE TPRLAFKNNC ELLVCDWCKH IRHTKEYLDF
GDGERRLQFC SAKCLNQYKM DIFYKETQAN LPAGLCSTLH PPMENKAEGT GVQLLTPDSW
NIPLTDARRK APSPVATAGQ SQGPGPSAST TVSPSDTANC SVTKIPTPVP KSIPISETPN
IPPVSVQPPA SIGPPLGVPP RSPPMVMTNR GPVPLPIFME QQIMQQIRPP FIRGPPHHAS
NPNSPLSNPM LPGIGPPPGG PRNLGPTSSP MHRPMLSPHI HPPSTPTMPG NPPGLLPPPP
PGAPLPSLPF PPVSMMPNGP MPVPQMMNFG LPSLAPLVPP PTLLVPYPVI VPLPVPIPIP
IPIPHVSDSK PPNGFSSNGE NFIPNAPGDS AAAGGKPSGH SLSPRDSKQG SSKSADSPPG
CSGQALSLAP TPAEHGRSEV VDLTRRAGSP PGPPGAGGQL GFPGVLQGPQ DGVIDLTVGH
RARLHNVIHR ALHAHVKAER EPSAAERRTC GGCRDGHCSP PAAGDPGPGA PAGPEAAAAC
NVIVNGTRGA AAEGAKSAEP PPEQPPPPPP PAPPKKLLSP EEPAVSELES VKENNCASNC
HLDGEAAKKL MGEEALAGGD KSDPNLNNPA DEDHAYALRM LPKTGCVIQP VPKPAEKAAM
APCIISSPML SAGPEDLEPP LKRRCLRIRN QNK
