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Q8NB91

- FANCB_HUMAN

UniProt

Q8NB91 - FANCB_HUMAN

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Protein
Fanconi anemia group B protein
Gene
FANCB
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

DNA repair protein required for FANCD2 ubiquitination.1 Publication

GO - Molecular functioni

  1. protein binding Source: IntAct
Complete GO annotation...

GO - Biological processi

  1. DNA repair Source: Reactome
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Enzyme and pathway databases

ReactomeiREACT_18410. Fanconi Anemia pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group B protein
Short name:
Protein FACB
Alternative name(s):
Fanconi anemia-associated polypeptide of 95 kDa
Short name:
FAAP95
Gene namesi
Name:FANCB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:3583. FANCB.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. Fanconi anaemia nuclear complex Source: UniProtKB
  2. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia complementation group B (FANCB) [MIM:300514]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

Keywords - Diseasei

Fanconi anemia

Organism-specific databases

MIMi227650. phenotype.
300514. phenotype.
Orphaneti84. Fanconi anemia.
3412. VACTERL with hydrocephalus.
PharmGKBiPA27996.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 859858Fanconi anemia group B protein
PRO_0000087181Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylthreonine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8NB91.
PaxDbiQ8NB91.
PRIDEiQ8NB91.

PTM databases

PhosphoSiteiQ8NB91.

Expressioni

Gene expression databases

ArrayExpressiQ8NB91.
BgeeiQ8NB91.
CleanExiHS_FANCB.
GenevestigatoriQ8NB91.

Organism-specific databases

HPAiHPA003124.

Interactioni

Subunit structurei

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FAAP100Q0VG064EBI-2557983,EBI-2557990

Protein-protein interaction databases

BioGridi108482. 11 interactions.
IntActiQ8NB91. 6 interactions.
MINTiMINT-4789170.
STRINGi9606.ENSP00000326819.

Structurei

3D structure databases

ProteinModelPortaliQ8NB91.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG78290.
HOGENOMiHOG000049220.
HOVERGENiHBG080307.
InParanoidiQ8NB91.
KOiK10889.
OMAiGDPCAVQ.
OrthoDBiEOG73FQM3.
PhylomeDBiQ8NB91.
TreeFamiTF331239.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8NB91-1 [UniParc]FASTAAdd to Basket

« Hide

MTSKQAMSSN EQERLLCYNG EVLVFQLSKG NFADKEPTKT PILHVRRMVF    50
DRGTKVFVQK STGFFTIKEE NSHLKIMCCN CVSDFRTGIN LPYIVIEKNK 100
KNNVFEYFLL ILHSTNKFEM RLSFKLGYEM KDGLRVLNGP LILWRHVKAF 150
FFISSQTGKV VSVSGNFSSI QWAGEIENLG MVLLGLKECC LSEEECTQEP 200
SKSDYAIWNT KFCVYSLESQ EVLSDIYIIP PAYSSVVTYV HICATEIIKN 250
QLRISLIALT RKNQLISFQN GTPKNVCQLP FGDPCAVQLM DSGGGNLFFV 300
VSFISNNACA VWKESFQVAA KWEKLSLVLI DDFIGSGTEQ VLLLFKDSLN 350
SDCLTSFKIT DLGKINYSSE PSDCNEDDLF EDKQENRYLV VPPLETGLKV 400
CFSSFRELRQ HLLLKEKIIS KSYKALINLV QGKDDNTSSA EEKECLVPLC 450
GEEENSVHIL DEKLSDNFQD SEQLVEKIWY RVIDDSLVVG VKTTSSLKLS 500
LNDVTLSLLM DQAHDSRFRL LKCQNRVIKL STNPFPAPYL MPCEIGLEAK 550
RVTLTPDSKK EESFVCEHPS KKECVQIITA VTSLSPLLTF SKFCCTVLLQ 600
IMERESGNCP KDRYVVCGRV FLSLEDLSTG KYLLTFPKKK PIEHMEDLFA 650
LLAAFHKSCF QITSPGYALN SMKVWLLEHM KCEIIKEFPE VYFCERPGSF 700
YGTLFTWKQR TPFEGILIIY SRNQTVMFQC LHNLIRILPI NCFLKNLKSG 750
SENFLIDNMA FTLEKELVTL SSLSSAIAKH ESNFMQRCEV SKGKSSVVAA 800
ALSDRRENIH PYRKELQREK KKMLQTNLKV SGALYREITL KVAEVQLKSD 850
FAAQKLSNL 859
Length:859
Mass (Da):97,726
Last modified:October 1, 2002 - v1
Checksum:i6CECD725B63C3901
GO

Sequence cautioni

The sequence AAH43596.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
The sequence AAH55411.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti330 – 3301I → T.1 Publication
VAR_069426

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK091383 mRNA. Translation: BAC03650.1.
CH471074 Genomic DNA. Translation: EAW98861.1.
BC043596 mRNA. Translation: AAH43596.1. Sequence problems.
BC055411 mRNA. Translation: AAH55411.1. Sequence problems.
BC136558 mRNA. Translation: AAI36559.1.
BC136560 mRNA. Translation: AAI36561.1.
CCDSiCCDS14161.1.
RefSeqiNP_001018123.1. NM_001018113.1.
NP_689846.1. NM_152633.2.
UniGeneiHs.554740.

Genome annotation databases

EnsembliENST00000324138; ENSP00000326819; ENSG00000181544.
ENST00000398334; ENSP00000381378; ENSG00000181544.
GeneIDi2187.
KEGGihsa:2187.
UCSCiuc004cwg.1. human.

Polymorphism databases

DMDMi74751163.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Fanconi Anemia Mutation Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK091383 mRNA. Translation: BAC03650.1 .
CH471074 Genomic DNA. Translation: EAW98861.1 .
BC043596 mRNA. Translation: AAH43596.1 . Sequence problems.
BC055411 mRNA. Translation: AAH55411.1 . Sequence problems.
BC136558 mRNA. Translation: AAI36559.1 .
BC136560 mRNA. Translation: AAI36561.1 .
CCDSi CCDS14161.1.
RefSeqi NP_001018123.1. NM_001018113.1.
NP_689846.1. NM_152633.2.
UniGenei Hs.554740.

3D structure databases

ProteinModelPortali Q8NB91.
ModBasei Search...

Protein-protein interaction databases

BioGridi 108482. 11 interactions.
IntActi Q8NB91. 6 interactions.
MINTi MINT-4789170.
STRINGi 9606.ENSP00000326819.

PTM databases

PhosphoSitei Q8NB91.

Polymorphism databases

DMDMi 74751163.

Proteomic databases

MaxQBi Q8NB91.
PaxDbi Q8NB91.
PRIDEi Q8NB91.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324138 ; ENSP00000326819 ; ENSG00000181544 .
ENST00000398334 ; ENSP00000381378 ; ENSG00000181544 .
GeneIDi 2187.
KEGGi hsa:2187.
UCSCi uc004cwg.1. human.

Organism-specific databases

CTDi 2187.
GeneCardsi GC0XM014861.
GeneReviewsi FANCB.
HGNCi HGNC:3583. FANCB.
HPAi HPA003124.
MIMi 227650. phenotype.
300514. phenotype.
300515. gene.
neXtProti NX_Q8NB91.
Orphaneti 84. Fanconi anemia.
3412. VACTERL with hydrocephalus.
PharmGKBi PA27996.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG78290.
HOGENOMi HOG000049220.
HOVERGENi HBG080307.
InParanoidi Q8NB91.
KOi K10889.
OMAi GDPCAVQ.
OrthoDBi EOG73FQM3.
PhylomeDBi Q8NB91.
TreeFami TF331239.

Enzyme and pathway databases

Reactomei REACT_18410. Fanconi Anemia pathway.

Miscellaneous databases

GeneWikii FANCB.
GenomeRNAii 2187.
NextBioi 8837.
PROi Q8NB91.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8NB91.
Bgeei Q8NB91.
CleanExi HS_FANCB.
Genevestigatori Q8NB91.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF; FANCG AND FANCL, FUNCTION, DISEASE, SUBCELLULAR LOCATION.
  5. "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."
    Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W.
    Nat. Genet. 37:958-963(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF; FANCG; FANCL AND FANCM.
  6. "Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome."
    Holden S.T., Cox J.J., Kesterton I., Thomas N.S., Carr C., Woods C.G.
    J. Med. Genet. 43:750-754(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN FANCB.
  7. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT THR-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  8. Cited for: VARIANT THR-330.

Entry informationi

Entry nameiFANCB_HUMAN
AccessioniPrimary (citable) accession number: Q8NB91
Secondary accession number(s): B2RMZ4, Q7Z2U2, Q86XG1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 1, 2002
Last modified: September 3, 2014
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

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