SANBR_HUMAN
ID SANBR_HUMAN Reviewed; 718 AA.
AC Q6NSI8; Q49AF0; Q6ZND0; Q96JI6;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 2.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=SANT and BTB domain regulator of class switch recombination {ECO:0000312|HGNC:HGNC:29387};
DE Short=SANT and BTB domain regulator of CSR;
GN Name=SANBR {ECO:0000312|HGNC:HGNC:29387}; Synonyms=KIAA1841;
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 4).
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 MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Brain, and Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 206-717 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
CC -!- FUNCTION: Negatively regulates class switch recombination or isotype
CC switching in splenic B-cells. {ECO:0000250|UniProtKB:Q68FF0}.
CC -!- SUBUNIT: Homodimer. Interacts (via the BTB domain) with HDAC1 and
CC NCOR2. {ECO:0000250|UniProtKB:Q68FF0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q6NSI8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6NSI8-2; Sequence=VSP_032302;
CC Name=3;
CC IsoId=Q6NSI8-3; Sequence=VSP_032299;
CC Name=4;
CC IsoId=Q6NSI8-4; Sequence=VSP_032300, VSP_032301;
CC -!- DOMAIN: The BTB domain is important for homodimerization and for its
CC function in negative regulation of class switch recombination.
CC {ECO:0000250|UniProtKB:Q68FF0}.
CC -!- SIMILARITY: Belongs to the KIAA1841 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB47470.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK131267; BAD18445.1; -; mRNA.
DR EMBL; BC039298; AAH39298.1; -; mRNA.
DR EMBL; BC070104; AAH70104.1; -; mRNA.
DR EMBL; AB058744; BAB47470.1; ALT_INIT; mRNA.
DR CCDS; CCDS1867.1; -. [Q6NSI8-2]
DR CCDS; CCDS46296.1; -. [Q6NSI8-1]
DR CCDS; CCDS82456.1; -. [Q6NSI8-3]
DR RefSeq; NP_001123465.1; NM_001129993.2. [Q6NSI8-1]
DR RefSeq; NP_001317361.1; NM_001330432.1. [Q6NSI8-3]
DR RefSeq; NP_001317362.1; NM_001330433.1. [Q6NSI8-2]
DR RefSeq; NP_001317364.1; NM_001330435.1. [Q6NSI8-2]
DR RefSeq; NP_001317365.1; NM_001330436.1. [Q6NSI8-1]
DR RefSeq; NP_115895.2; NM_032506.3. [Q6NSI8-2]
DR RefSeq; XP_011531429.1; XM_011533127.2.
DR AlphaFoldDB; Q6NSI8; -.
DR SMR; Q6NSI8; -.
DR BioGRID; 124129; 10.
DR IntAct; Q6NSI8; 6.
DR STRING; 9606.ENSP00000385579; -.
DR iPTMnet; Q6NSI8; -.
DR PhosphoSitePlus; Q6NSI8; -.
DR BioMuta; KIAA1841; -.
DR DMDM; 172046130; -.
DR EPD; Q6NSI8; -.
DR MassIVE; Q6NSI8; -.
DR PaxDb; Q6NSI8; -.
DR PeptideAtlas; Q6NSI8; -.
DR PRIDE; Q6NSI8; -.
DR ProteomicsDB; 66632; -. [Q6NSI8-1]
DR ProteomicsDB; 66633; -. [Q6NSI8-2]
DR ProteomicsDB; 66634; -. [Q6NSI8-3]
DR ProteomicsDB; 66635; -. [Q6NSI8-4]
DR Antibodypedia; 30587; 58 antibodies from 13 providers.
DR DNASU; 84542; -.
DR Ensembl; ENST00000295031.9; ENSP00000295031.5; ENSG00000162929.14. [Q6NSI8-2]
DR Ensembl; ENST00000356719.6; ENSP00000349154.3; ENSG00000162929.14. [Q6NSI8-2]
DR Ensembl; ENST00000402291.6; ENSP00000385579.1; ENSG00000162929.14. [Q6NSI8-1]
DR Ensembl; ENST00000453873.5; ENSP00000416795.1; ENSG00000162929.14. [Q6NSI8-1]
DR Ensembl; ENST00000612149.1; ENSP00000482126.1; ENSG00000162929.14. [Q6NSI8-3]
DR GeneID; 84542; -.
DR KEGG; hsa:84542; -.
DR MANE-Select; ENST00000402291.6; ENSP00000385579.1; NM_001129993.3; NP_001123465.1.
DR UCSC; uc002saw.5; human. [Q6NSI8-1]
DR CTD; 84542; -.
DR DisGeNET; 84542; -.
DR GeneCards; SANBR; -.
DR HGNC; HGNC:29387; SANBR.
DR HPA; ENSG00000162929; Tissue enhanced (retina).
DR neXtProt; NX_Q6NSI8; -.
DR OpenTargets; ENSG00000162929; -.
DR VEuPathDB; HostDB:ENSG00000162929; -.
DR eggNOG; ENOG502QRE4; Eukaryota.
DR GeneTree; ENSGT00390000008178; -.
DR HOGENOM; CLU_016494_0_0_1; -.
DR InParanoid; Q6NSI8; -.
DR OMA; ECAKRFE; -.
DR OrthoDB; 904755at2759; -.
DR PhylomeDB; Q6NSI8; -.
DR TreeFam; TF324503; -.
DR PathwayCommons; Q6NSI8; -.
DR SignaLink; Q6NSI8; -.
DR BioGRID-ORCS; 84542; 22 hits in 1082 CRISPR screens.
DR ChiTaRS; KIAA1841; human.
DR GenomeRNAi; 84542; -.
DR Pharos; Q6NSI8; Tdark.
DR PRO; PR:Q6NSI8; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6NSI8; protein.
DR Bgee; ENSG00000162929; Expressed in endothelial cell and 164 other tissues.
DR ExpressionAtlas; Q6NSI8; baseline and differential.
DR Genevisible; Q6NSI8; HS.
DR GO; GO:0042802; F:identical protein binding; ISS:UniProtKB.
DR GO; GO:0045190; P:isotype switching; ISS:UniProtKB.
DR CDD; cd00167; SANT; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR045902; SANBR-like.
DR InterPro; IPR021777; SANBR_BTB.
DR InterPro; IPR001005; SANT/Myb.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR20946; PTHR20946; 1.
DR Pfam; PF11822; DUF3342; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..718
FT /note="SANT and BTB domain regulator of class switch
FT recombination"
FT /id="PRO_0000324598"
FT DOMAIN 21..59
FT /note="SANT"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00624"
FT DOMAIN 147..255
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REGION 118..142
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 555..622
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 692..718
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 118..139
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 693..712
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..146
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032299"
FT VAR_SEQ 364..379
FT /note="DKTWDVHEYLNSLFEE -> CREDKIHTCIFVYIYI (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032300"
FT VAR_SEQ 380..718
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032301"
FT VAR_SEQ 677..718
FT /note="FAGGIYSRLEAQIKASVPVSARQSSSEKNTRSKSRFGQGRPA -> TDKLRP
FT RDGTVSKSNRKSGLSSVLLMTVLLC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032302"
FT CONFLICT 207
FT /note="Y -> F (in Ref. 3; BAB47470)"
FT /evidence="ECO:0000305"
FT CONFLICT 215
FT /note="N -> S (in Ref. 2; AAH70104)"
FT /evidence="ECO:0000305"
FT CONFLICT 398
FT /note="T -> A (in Ref. 2; AAH70104)"
FT /evidence="ECO:0000305"
FT CONFLICT 640
FT /note="Q -> K (in Ref. 2; AAH39298)"
FT /evidence="ECO:0000305"
FT VARIANT Q6NSI8-2:685
FT /note="G -> S (in dbSNP:rs13424173)"
FT /evidence="ECO:0000305"
FT /id="VAR_082836"
SQ SEQUENCE 718 AA; 82007 MW; E57472CE0D86405D CRC64;
MSRGYSENNN FLNNNNQMVL DMILYPLIGI PQTINWETIA RLVPGLTPKE CAKRFDELKS
SGSSPVDNQY NSLMAAGESP VETLATYIKS SLLDIHGEFQ ETPVGHDAVS KTGRHSIAST
RNCSSESENC TTHNGGEMTE ESEGPNMVIH VCDEAKNLKE DFTCPRDLLI SEMKYFAEYL
SMDAQRWEEV DISVHCDVHI FNWLIKYIKR NTKENKDCEM PTLEPGNVIS ILISSEFLKM
DSLVEQCIQY CHKNMNAIVA TPCNMNCINA NLLTRIADLF SHNEVDDLKD KKDKFKSKLF
CKKIERLFDP EYLNPDSRSN AATLYRCCLC KKLLTKETER RIPCIPGKIN VDRRGNIVYI
HIRDKTWDVH EYLNSLFEEL KSWRDVYWRL WGTINWLTCS RCYQAFLCIE FSHCQYHSET
VVYPTAASSL NTVGTGIYPC CNQKVLRFDP TQLTKGCKVR DHMVTLRDQG EGGDLPSCPT
ARMLDDLHKY RDVIVVPFSK DTVSDVGVGL CDEKGIECDV LLEPNTPWGP KTGELNAFLS
LKNWTLQLKQ QSLFSEEEEY TTGSEVTEDE VGDEEEVSKK QRKKEKPKKF TRQPKKQVSS
PCAQRKEKAL EKSASRDVSP FVMSMQKNKW DATRSLRFNQ DAQREDDQRR MTEITGHLIK
MRLGDLDRVK SKEAKEFAGG IYSRLEAQIK ASVPVSARQS SSEKNTRSKS RFGQGRPA
