Homo sapiens L. (human) [HSA]

FULL NAME: Fanconi anemia group B protein


DESCRIPTION:
DNA repair protein required for FANCD2 ubiquitination.

SUBUNIT STRUCTURE:
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.


RELATED PATHWAY(S):
Fanconi anemia (FA) pathway


RELATED DISEASE(S):
X-linked VACTERL-H (XVACTERL-H)
Fanconi anemia, complementation group B (FANCB)


Amino acids sequence

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

Encoded by FANCB gene

FULL NAME: Fanconi anemia, complementation group B


OTHER NAME(S):
FA2
FAAP90
FAAP95
FAB
FACB


DESCRIPTION:
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgactagca aacaagcaat gtcatctaac gaacaagaaa ggctcttgtg ttataatggg
        70         80         90        100        110        120
gaagtccttg ttttccagtt gtctaaagga aattttgcag ataaagagcc tacaaaaaca
       130        140        150        160        170        180
cccatattac atgtcagaag aatggtattt gacagaggaa caaaagtatt tgttcagaag
       190        200        210        220        230        240
tccactggat tttttaccat aaaggaagaa aactctcatt taaaaatcat gtgttgcaac
       250        260        270        280        290        300
tgtgtgtcag atttcagaac tggaattaac ctcccttaca ttgtgataga aaaaaataaa
       310        320        330        340        350        360
aagaataatg tttttgaata ttttttacta atccttcaca gtactaataa atttgaaatg
       370        380        390        400        410        420
cgtttgagtt ttaaactagg ctatgagatg aaggatggcc taagggtcct taatggccct
       430        440        450        460        470        480
ttaattttat ggaggcatgt caaagcattc ttctttatct cttctcaaac tggcaaagtt
       490        500        510        520        530        540
gttagtgtgt caggtaactt ttcctctatt cagtgggcag gggagattga aaatttaggt
       550        560        570        580        590        600
atggttttat tgggactaaa ggaatgttgt ttatctgagg aagaatgtac tcaagagcct
       610        620        630        640        650        660
tcaaaatcag attatgcaat ttggaatacc aaattttgtg tatattctct tgaaagtcaa
       670        680        690        700        710        720
gaagtattaa gtgatatata cattattcct cctgcttaca gcagtgtggt gacttatgta
       730        740        750        760        770        780
catatttgtg caactgagat catcaaaaac cagttaagaa tatctctcat tgcccttact
       790        800        810        820        830        840
cgaaagaatc agctgatttc atttcagaat ggaactccta aaaatgtgtg ccagcttcca
       850        860        870        880        890        900
tttggagatc cttgtgcagt tcaacttatg gattcaggtg gaggaaacct ctttttcgtt
       910        920        930        940        950        960
gtatccttta tatccaataa tgcttgtgct gtatggaaag agagctttca ggttgctgct
       970        980        990       1000       1010       1020
aaatgggaaa aacttagctt agtactgata gatgacttta ttggaagtgg aactgaacaa
      1030       1040       1050       1060       1070       1080
gtactcctac tttttaagga ctccttgaac tcagactgcc tgacttcatt taaaataacg
      1090       1100       1110       1120       1130       1140
gatcttggaa aaataaacta ttcgagtgaa ccatcagatt gcaatgaaga tgacttattt
      1150       1160       1170       1180       1190       1200
gaagacaaac aagagaatcg ttacctggtg gttccacctc tagaaacagg actgaaagtt
      1210       1220       1230       1240       1250       1260
tgtttttctt cttttcggga attacggcag catctgttgc ttaaggaaaa aattatttca
      1270       1280       1290       1300       1310       1320
aaatcttaca aagctttaat aaacctagtt caaggaaaag atgataatac gtcaagtgca
      1330       1340       1350       1360       1370       1380
gaggagaagg aatgtcttgt tcctctttgt ggtgaagaag aaaattctgt ccatatctta
      1390       1400       1410       1420       1430       1440
gatgaaaagt tatcagacaa ttttcaagat tcagaacagc tagtagagaa gatatggtat
      1450       1460       1470       1480       1490       1500
cgtgtaatag atgatagctt ggttgttgga gtgaaaacta catcttcttt gaagctgtcc
      1510       1520       1530       1540       1550       1560
ctgaatgatg tgactttatc attgttaatg gatcaagccc atgactccag atttcggctt
      1570       1580       1590       1600       1610       1620
ctaaagtgtc aaaatagggt gattaagttg agtacaaatc ctttcccagc accatacttg
      1630       1640       1650       1660       1670       1680
atgccatgtg aaataggatt ggaagcaaaa agggtcacgt tgacccctga tagcaagaaa
      1690       1700       1710       1720       1730       1740
gaggaaagct ttgtttgtga acacccatct aagaaagagt gtgtacagat aattactgct
      1750       1760       1770       1780       1790       1800
gtaacatctc tttcaccact tttaacattc agtaaatttt gttgcactgt actgctacaa
      1810       1820       1830       1840       1850       1860
attatggaga gagaaagtgg taactgtcct aaagatcgtt atgttgtgtg tggcagagtt
      1870       1880       1890       1900       1910       1920
tttttaagtc tagaagatct ttcaactggg aagtacctac tgacatttcc aaagaagaaa
      1930       1940       1950       1960       1970       1980
cctatagagc acatggaaga tctttttgca cttcttgcag cattccataa atcttgtttt
      1990       2000       2010       2020       2030       2040
caaatcacat cacccggcta tgccctgaat tcaatgaagg tgtggctctt agaacatatg
      2050       2060       2070       2080       2090       2100
aaatgtgaaa taatcaaaga atttccagaa gtgtactttt gtgaaagacc gggaagtttc
      2110       2120       2130       2140       2150       2160
tatgggacac tcttcacttg gaaacagaga acaccattcg aagggatttt aataatctat
      2170       2180       2190       2200       2210       2220
tccaggaatc aaacagttat gttccagtgc cttcataatc tcatcagaat tctccctata
      2230       2240       2250       2260       2270       2280
aactgtttcc tcaaaaatct aaaatcagga agtgagaatt tcctaattga taatatggca
      2290       2300       2310       2320       2330       2340
tttactttgg agaaggaact agtcaccctt agttctcttt cttctgccat agctaaacat
      2350       2360       2370       2380       2390       2400
gaaagcaatt ttatgcagag gtgtgaagtg agcaaaggaa agagtagtgt cgtcgcggct
      2410       2420       2430       2440       2450       2460
gctttatcag acagaaggga aaatatccat ccctacagaa aagaacttca gagagaaaag
      2470       2480       2490       2500       2510       2520
aagaaaatgt tgcaaacgaa cctaaaagtg agtggtgccc tttacagaga aataactttg
      2530       2540       2550       2560       2570       2580
aaagtagctg aggttcagtt gaaatcagac tttgctgcac agaaactgag taatttataa

Last modification date: Dec. 3, 2011