FANCB_HUMAN
ID FANCB_HUMAN Reviewed; 859 AA.
AC Q8NB91; B2RMZ4; Q7Z2U2; Q86XG1;
DT 25-OCT-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Fanconi anemia group B protein;
DE Short=Protein FACB;
DE AltName: Full=Fanconi anemia-associated polypeptide of 95 kDa;
DE Short=FAAP95;
GN Name=FANCB;
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=Brain;
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].
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=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 [4]
RP IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A COMPLEX WITH
RP FANCA; FANCC; FANCE; FANCF; FANCG AND FANCL, FUNCTION, DISEASE, AND
RP SUBCELLULAR LOCATION.
RX PubMed=15502827; DOI=10.1038/ng1458;
RA Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C.,
RA Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W.,
RA Joenje H.;
RT "X-linked inheritance of Fanconi anemia complementation group B.";
RL Nat. Genet. 36:1219-1224(2004).
RN [5]
RP IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF; FANCG; FANCL
RP AND FANCM.
RX PubMed=16116422; DOI=10.1038/ng1626;
RA Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P.,
RA Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H.,
RA de Winter J.P., Wang W.;
RT "A human ortholog of archaeal DNA repair protein Hef is defective in
RT Fanconi anemia complementation group M.";
RL Nat. Genet. 37:958-963(2005).
RN [6]
RP INVOLVEMENT IN FANCB.
RX PubMed=16679491; DOI=10.1136/jmg.2006.041673;
RA Holden S.T., Cox J.J., Kesterton I., Thomas N.S., Carr C., Woods C.G.;
RT "Fanconi anaemia complementation group B presenting as X linked VACTERL
RT with hydrocephalus syndrome.";
RL J. Med. Genet. 43:750-754(2006).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT THR-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
RP VARIANT THR-330.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- FUNCTION: DNA repair protein required for FANCD2 ubiquitination.
CC {ECO:0000269|PubMed:15502827}.
CC -!- SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA,
CC FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is
CC not found in FA patients. {ECO:0000269|PubMed:15502827,
CC ECO:0000269|PubMed:16116422}.
CC -!- INTERACTION:
CC Q8NB91; Q0VG06: FAAP100; NbExp=4; IntAct=EBI-2557983, EBI-2557990;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15502827}.
CC -!- DISEASE: Fanconi anemia complementation group B (FANCB) [MIM:300514]: A
CC disorder affecting all bone marrow elements and resulting in anemia,
CC leukopenia and thrombopenia. It is associated with cardiac, renal and
CC limb malformations, dermal pigmentary changes, and a predisposition to
CC the development of malignancies. At the cellular level it is associated
CC with hypersensitivity to DNA-damaging agents, chromosomal instability
CC (increased chromosome breakage) and defective DNA repair. Some severe
CC FANCB cases manifest features of VACTERL syndrome with hydrocephalus.
CC {ECO:0000269|PubMed:16679491}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH43596.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=AAH55411.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Fanconi Anemia Mutation Database;
CC URL="https://www2.rockefeller.edu/fanconi/genes/jumpb";
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DR EMBL; AK091383; BAC03650.1; -; mRNA.
DR EMBL; CH471074; EAW98861.1; -; Genomic_DNA.
DR EMBL; BC043596; AAH43596.1; ALT_SEQ; mRNA.
DR EMBL; BC055411; AAH55411.1; ALT_SEQ; mRNA.
DR EMBL; BC136558; AAI36559.1; -; mRNA.
DR EMBL; BC136560; AAI36561.1; -; mRNA.
DR CCDS; CCDS14161.1; -.
DR RefSeq; NP_001018123.1; NM_001018113.2.
DR RefSeq; NP_001311091.1; NM_001324162.1.
DR RefSeq; NP_689846.1; NM_152633.3.
DR RefSeq; XP_016884844.1; XM_017029355.1.
DR PDB; 7KZP; EM; 3.10 A; B/O=1-859.
DR PDB; 7KZQ; EM; 4.20 A; B/O=1-859.
DR PDB; 7KZR; EM; 4.20 A; B/O=1-859.
DR PDB; 7KZS; EM; 4.20 A; B/O=1-859.
DR PDB; 7KZT; EM; 4.20 A; B/O=1-859.
DR PDB; 7KZV; EM; 4.20 A; B/O=1-859.
DR PDBsum; 7KZP; -.
DR PDBsum; 7KZQ; -.
DR PDBsum; 7KZR; -.
DR PDBsum; 7KZS; -.
DR PDBsum; 7KZT; -.
DR PDBsum; 7KZV; -.
DR AlphaFoldDB; Q8NB91; -.
DR SMR; Q8NB91; -.
DR BioGRID; 108482; 26.
DR ComplexPortal; CPX-6263; Fanconi anemia ubiquitin ligase complex.
DR CORUM; Q8NB91; -.
DR IntAct; Q8NB91; 16.
DR MINT; Q8NB91; -.
DR STRING; 9606.ENSP00000381378; -.
DR iPTMnet; Q8NB91; -.
DR PhosphoSitePlus; Q8NB91; -.
DR BioMuta; FANCB; -.
DR DMDM; 74751163; -.
DR EPD; Q8NB91; -.
DR jPOST; Q8NB91; -.
DR MassIVE; Q8NB91; -.
DR MaxQB; Q8NB91; -.
DR PaxDb; Q8NB91; -.
DR PeptideAtlas; Q8NB91; -.
DR PRIDE; Q8NB91; -.
DR ProteomicsDB; 72752; -.
DR Antibodypedia; 553; 155 antibodies from 19 providers.
DR DNASU; 2187; -.
DR Ensembl; ENST00000324138.7; ENSP00000326819.3; ENSG00000181544.15.
DR Ensembl; ENST00000398334.5; ENSP00000381378.1; ENSG00000181544.15.
DR Ensembl; ENST00000650831.1; ENSP00000498215.1; ENSG00000181544.15.
DR GeneID; 2187; -.
DR KEGG; hsa:2187; -.
DR MANE-Select; ENST00000650831.1; ENSP00000498215.1; NM_001018113.3; NP_001018123.1.
DR UCSC; uc004cwg.1; human.
DR CTD; 2187; -.
DR DisGeNET; 2187; -.
DR GeneCards; FANCB; -.
DR GeneReviews; FANCB; -.
DR HGNC; HGNC:3583; FANCB.
DR HPA; ENSG00000181544; Tissue enhanced (bone marrow, brain).
DR MalaCards; FANCB; -.
DR MIM; 300514; phenotype.
DR MIM; 300515; gene.
DR neXtProt; NX_Q8NB91; -.
DR OpenTargets; ENSG00000181544; -.
DR Orphanet; 84; Fanconi anemia.
DR Orphanet; 3412; VACTERL with hydrocephalus.
DR PharmGKB; PA27996; -.
DR VEuPathDB; HostDB:ENSG00000181544; -.
DR eggNOG; ENOG502QWED; Eukaryota.
DR GeneTree; ENSGT00390000009885; -.
DR InParanoid; Q8NB91; -.
DR OMA; LIWFQDG; -.
DR OrthoDB; 239029at2759; -.
DR PhylomeDB; Q8NB91; -.
DR TreeFam; TF331239; -.
DR PathwayCommons; Q8NB91; -.
DR Reactome; R-HSA-6783310; Fanconi Anemia Pathway.
DR SignaLink; Q8NB91; -.
DR SIGNOR; Q8NB91; -.
DR BioGRID-ORCS; 2187; 35 hits in 712 CRISPR screens.
DR ChiTaRS; FANCB; human.
DR GeneWiki; FANCB; -.
DR GenomeRNAi; 2187; -.
DR Pharos; Q8NB91; Tbio.
DR PRO; PR:Q8NB91; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q8NB91; protein.
DR Bgee; ENSG00000181544; Expressed in buccal mucosa cell and 99 other tissues.
DR ExpressionAtlas; Q8NB91; baseline and differential.
DR Genevisible; Q8NB91; HS.
DR GO; GO:0000785; C:chromatin; IDA:ComplexPortal.
DR GO; GO:0043240; C:Fanconi anaemia nuclear complex; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0036297; P:interstrand cross-link repair; IC:ComplexPortal.
DR GO; GO:2000042; P:negative regulation of double-strand break repair via homologous recombination; IBA:GO_Central.
DR GO; GO:1905168; P:positive regulation of double-strand break repair via homologous recombination; IBA:GO_Central.
DR GO; GO:0006513; P:protein monoubiquitination; IDA:ComplexPortal.
DR GO; GO:1990414; P:replication-born double-strand break repair via sister chromatid exchange; IBA:GO_Central.
DR InterPro; IPR033333; FANCB.
DR PANTHER; PTHR28450; PTHR28450; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; DNA damage; DNA repair; Fanconi anemia; Nucleus;
KW Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CHAIN 2..859
FT /note="Fanconi anemia group B protein"
FT /id="PRO_0000087181"
FT MOD_RES 2
FT /note="N-acetylthreonine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT VARIANT 330
FT /note="I -> T (in dbSNP:rs200161949)"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069426"
SQ SEQUENCE 859 AA; 97726 MW; 6CECD725B63C3901 CRC64;
MTSKQAMSSN EQERLLCYNG EVLVFQLSKG NFADKEPTKT PILHVRRMVF DRGTKVFVQK
STGFFTIKEE NSHLKIMCCN CVSDFRTGIN LPYIVIEKNK KNNVFEYFLL ILHSTNKFEM
RLSFKLGYEM KDGLRVLNGP LILWRHVKAF FFISSQTGKV VSVSGNFSSI QWAGEIENLG
MVLLGLKECC LSEEECTQEP SKSDYAIWNT KFCVYSLESQ EVLSDIYIIP PAYSSVVTYV
HICATEIIKN QLRISLIALT RKNQLISFQN GTPKNVCQLP FGDPCAVQLM DSGGGNLFFV
VSFISNNACA VWKESFQVAA KWEKLSLVLI DDFIGSGTEQ VLLLFKDSLN SDCLTSFKIT
DLGKINYSSE PSDCNEDDLF EDKQENRYLV VPPLETGLKV CFSSFRELRQ HLLLKEKIIS
KSYKALINLV QGKDDNTSSA EEKECLVPLC GEEENSVHIL DEKLSDNFQD SEQLVEKIWY
RVIDDSLVVG VKTTSSLKLS LNDVTLSLLM DQAHDSRFRL LKCQNRVIKL STNPFPAPYL
MPCEIGLEAK RVTLTPDSKK EESFVCEHPS KKECVQIITA VTSLSPLLTF SKFCCTVLLQ
IMERESGNCP KDRYVVCGRV FLSLEDLSTG KYLLTFPKKK PIEHMEDLFA LLAAFHKSCF
QITSPGYALN SMKVWLLEHM KCEIIKEFPE VYFCERPGSF YGTLFTWKQR TPFEGILIIY
SRNQTVMFQC LHNLIRILPI NCFLKNLKSG SENFLIDNMA FTLEKELVTL SSLSSAIAKH
ESNFMQRCEV SKGKSSVVAA ALSDRRENIH PYRKELQREK KKMLQTNLKV SGALYREITL
KVAEVQLKSD FAAQKLSNL
