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Protein

Fanconi anemia group B protein

Gene

FANCB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

DNA repair protein required for FANCD2 ubiquitination.1 Publication

GO - Biological processi

Keywordsi

Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-6783310 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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000181544.13
HGNCiHGNC:3583 FANCB
MIMi300515 gene
neXtProtiNX_Q8NB91

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia complementation group B (FANCB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:300514

Keywords - Diseasei

Fanconi anemia

Organism-specific databases

DisGeNETi2187
GeneReviewsiFANCB
MalaCardsiFANCB
MIMi300514 phenotype
OpenTargetsiENSG00000181544
Orphaneti84 Fanconi anemia
3412 VACTERL with hydrocephalus
PharmGKBiPA27996

Polymorphism and mutation databases

BioMutaiFANCB
DMDMi74751163

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000871812 – 859Fanconi anemia group B proteinAdd BLAST858

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylthreonineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8NB91
MaxQBiQ8NB91
PaxDbiQ8NB91
PeptideAtlasiQ8NB91
PRIDEiQ8NB91
ProteomicsDBi72752

PTM databases

iPTMnetiQ8NB91
PhosphoSitePlusiQ8NB91

Expressioni

Gene expression databases

BgeeiENSG00000181544
CleanExiHS_FANCB
ExpressionAtlasiQ8NB91 baseline and differential
GenevisibleiQ8NB91 HS

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, 17 interactors
CORUMiQ8NB91
IntActiQ8NB91, 9 interactors
MINTiQ8NB91
STRINGi9606.ENSP00000326819

Structurei

3D structure databases

ProteinModelPortaliQ8NB91
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IEYY Eukaryota
ENOG410YMW2 LUCA
GeneTreeiENSGT00390000009885
HOGENOMiHOG000049220
HOVERGENiHBG080307
InParanoidiQ8NB91
KOiK10889
OMAiSFYGTLF
OrthoDBiEOG091G01O7
PhylomeDBiQ8NB91
TreeFamiTF331239

Family and domain databases

InterProiView protein in InterPro
IPR033333 FANCB
PANTHERiPTHR28450 PTHR28450, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q8NB91-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTSKQAMSSN EQERLLCYNG EVLVFQLSKG NFADKEPTKT PILHVRRMVF
60 70 80 90 100
DRGTKVFVQK STGFFTIKEE NSHLKIMCCN CVSDFRTGIN LPYIVIEKNK
110 120 130 140 150
KNNVFEYFLL ILHSTNKFEM RLSFKLGYEM KDGLRVLNGP LILWRHVKAF
160 170 180 190 200
FFISSQTGKV VSVSGNFSSI QWAGEIENLG MVLLGLKECC LSEEECTQEP
210 220 230 240 250
SKSDYAIWNT KFCVYSLESQ EVLSDIYIIP PAYSSVVTYV HICATEIIKN
260 270 280 290 300
QLRISLIALT RKNQLISFQN GTPKNVCQLP FGDPCAVQLM DSGGGNLFFV
310 320 330 340 350
VSFISNNACA VWKESFQVAA KWEKLSLVLI DDFIGSGTEQ VLLLFKDSLN
360 370 380 390 400
SDCLTSFKIT DLGKINYSSE PSDCNEDDLF EDKQENRYLV VPPLETGLKV
410 420 430 440 450
CFSSFRELRQ HLLLKEKIIS KSYKALINLV QGKDDNTSSA EEKECLVPLC
460 470 480 490 500
GEEENSVHIL DEKLSDNFQD SEQLVEKIWY RVIDDSLVVG VKTTSSLKLS
510 520 530 540 550
LNDVTLSLLM DQAHDSRFRL LKCQNRVIKL STNPFPAPYL MPCEIGLEAK
560 570 580 590 600
RVTLTPDSKK EESFVCEHPS KKECVQIITA VTSLSPLLTF SKFCCTVLLQ
610 620 630 640 650
IMERESGNCP KDRYVVCGRV FLSLEDLSTG KYLLTFPKKK PIEHMEDLFA
660 670 680 690 700
LLAAFHKSCF QITSPGYALN SMKVWLLEHM KCEIIKEFPE VYFCERPGSF
710 720 730 740 750
YGTLFTWKQR TPFEGILIIY SRNQTVMFQC LHNLIRILPI NCFLKNLKSG
760 770 780 790 800
SENFLIDNMA FTLEKELVTL SSLSSAIAKH ESNFMQRCEV SKGKSSVVAA
810 820 830 840 850
ALSDRRENIH PYRKELQREK KKMLQTNLKV SGALYREITL KVAEVQLKSD

FAAQKLSNL
Length:859
Mass (Da):97,726
Last modified:October 1, 2002 - v1
Checksum:i6CECD725B63C3901
GO

Sequence cautioni

The sequence AAH43596 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH55411 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069426330I → T1 PublicationCorresponds to variant dbSNP:rs200161949EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001018113.2
NP_001311091.1, NM_001324162.1
NP_689846.1, NM_152633.3
XP_016884844.1, XM_017029355.1
UniGeneiHs.554740

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFANCB_HUMAN
AccessioniPrimary (citable) accession number: Q8NB91
Secondary accession number(s): B2RMZ4, Q7Z2U2, Q86XG1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 1, 2002
Last modified: June 20, 2018
This is version 115 of the entry and version 1 of the sequence. See 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

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