Reviewed, UniProtKB/Swiss-Prot Q8NB91 (FANCB_HUMAN)

Names and origin

Protein names

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 names

Name:

FANCB

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	859 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	DNA repair protein required for FANCD2 ubiquitination. Ref.3
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.
Subcellular location	Nucleus. Ref.3
Involvement in disease	Defects in FANCB are the cause of cause of Fanconi anemia complementation group B (FANCB) [MIM:300514]; also called Fanconi pancytopenia type 2 (FA2). Ref.3 Defects in FANCB are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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. Ref.3 Ref.4 Defects in FANCB are the cause of X-linked VACTERL-H (XVACTERL-H) [MIM:314390]; also known as X-linked VACTERL association with hydrocephalus syndrome. VACTERL is an acronym for vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb). Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement. Ref.3 Ref.5
Sequence caution	The sequence AAH43596.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. The sequence AAH55411.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Nucleus
Disease	Fanconi anemia
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	DNA repair Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 859	859	Fanconi anemia group B protein		PRO_0000087181
Amino acid modifications
	Modified residue	839	1	Phosphothreonine Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q8NB91-1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 6CECD725B63C3901	FASTA	859	97,726
	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

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-818. Tissue: Testis.
[3]	"X-linked inheritance of Fanconi anemia complementation group B." Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W., Joenje H. Nat. Genet. 36:1219-1224(2004) [PubMed: 15502827] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF; FANCG AND FANCL, FUNCTION, DISEASE, SUBCELLULAR LOCATION.
[4]	"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: 16116422] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF; FANCG; FANCL AND FANCM.
[5]	"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: 16679491] [Abstract] Cited for: INVOLVEMENT IN XVACTERL-H.
[6]	"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-839, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Fanconi Anemia Mutation Database

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK091383 mRNA. Translation: BAC03650.1. BC043596 mRNA. Translation: AAH43596.1. Sequence problems. BC055411 mRNA. Translation: AAH55411.1. Sequence problems.
IPI	IPI00645780.
RefSeq	NP_001018123.1. NP_689846.1.
UniGene	Hs.554740
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q8NB91.
Proteomic databases
PRIDE	Q8NB91.
Genome annotation databases
Ensembl	ENSG00000181544. Homo sapiens. [Contig view]
GeneID	2187.
KEGG	hsa:2187.
Organism-specific databases
GeneCards	GC0XM014771.
HGNC	HGNC:3583. FANCB.
HPA	HPA003124.
MIM	227650. phenotype. 300514. phenotype. 300515. gene. 314390. phenotype.
Orphanet	84. Fanconi anemia. 3412. VACTERL with hydrocephalus.
PharmGKB	PA27996.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8NB91.
HOVERGEN	Q8NB91.
OMA	Q8NB91. FQVAAKW.
Gene expression databases
ArrayExpress	Q8NB91.
Bgee	Q8NB91.
CleanEx	HS_FANCB.
GermOnline	ENSG00000181544. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	8837.
SOURCE	Search...

Entry information

Entry name

FANCB_HUMAN

Accession

Primary (citable) accession number: Q8NB91
Secondary accession number(s): Q7Z2U2, Q86XG1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 25, 2005
Last sequence update:	October 1, 2002
Last modified:	June 16, 2009
This is version 46 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)