Q9NPI8 (FANCF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fanconi anemia group F protein
Short name=Protein FACF

Gene names

Name:

FANCF

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	374 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability By similarity.
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. In complex with FANCA, FANCG and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. Ref.5 Ref.6 Ref.7 Ref.8 Ref.9 Ref.10
Subcellular location	Nucleus Ref.6 Ref.10.
Involvement in disease	Fanconi anemia complementation group F (FANCF) [MIM:603467]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Fanconi anemia
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	DNA repair Traceable author statement. Source: Reactome
Cellular_component	Fanconi anaemia nuclear complex Inferred from direct assay PubMed 20347428. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FANCA	O15360	5	EBI-81589,EBI-81570
FANCG	O15287	4	EBI-81589,EBI-81610

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 374

374

Fanconi anemia group F protein

PRO_0000087188

Natural variations

Natural variant

295

1

V → I.
Corresponds to variant rs7103293 [ dbSNP | Ensembl ].

VAR_050988

Natural variant

320

1

P → L. Ref.3
Corresponds to variant rs45451294 [ dbSNP | Ensembl ].

VAR_022270

Experimental info

Mutagenesis

209

1

L → R: Reduced monoubiquitination of FANCD2. Ref.5

Mutagenesis

251

1

F → R: Reduced monoubiquitination of FANCD2. Ref.5

Mutagenesis

287

1

Y → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-289; A-339; A-341 and A-344. Ref.5

Mutagenesis

289

1

L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-339; A-341 and A-344. Ref.5

Mutagenesis

339

1

F → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-341 and A-344. Ref.5

Mutagenesis

341

1

V → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-344. Ref.5

Mutagenesis

344

1

L → A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-341. Ref.5

Secondary structure

1

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374

Helix Strand Turn

Details...

Helix

160 – 174

15

Helix

186 – 195

10

Helix

198 – 209

12

Helix

235 – 243

9

Helix

245 – 254

10

Helix

257 – 266

10

Helix

268 – 270

3

Helix

271 – 283

13

Beta strand

286 – 288

3

Turn

289 – 292

4

Beta strand

293 – 295

3

Helix

304 – 315

12

Helix

319 – 335

17

Helix

346 – 354

9

Sequences

	Sequence		Length	Mass (Da)
	Q9NPI8 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 1F295CD1FBE6ED7D	FASTA	374	42,254
	10 20 30 40 50 60 MESLLQHLDR FSELLAVSST TYVSTWDPAT VRRALQWARY LRHIHRRFGR HGPIRTALER 70 80 90 100 110 120 RLHNQWRQEG GFGRGPVPGL ANFQALGHCD VLLSLRLLEN RALGDAARYH LVQQLFPGPG 130 140 150 160 170 180 VRDADEETLQ ESLARLARRR SAVHMLRFNG YRENPNLQED SLMKTQAELL LERLQEVGKA 190 200 210 220 230 240 EAERPARFLS SLWERLPQNN FLKVIAVALL QPPLSRRPQE ELEPGIHKSP GEGSQVLVHW 250 260 270 280 290 300 LLGNSEVFAA FCRALPAGLL TLVTSRHPAL SPVYLGLLTD WGQRLHYDLQ KGIWVGTESQ 310 320 330 340 350 360 DVPWEELHNR FQSLCQAPPP LKDKVLTALE TCKAQDGDFE VPGLSIWTDL LLALRSGAFR 370 KRQVLGLSAG LSSV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM." de Winter J.P., Rooimans M.A., van der Weel L., van Berkel C.G.M., de Groot J., Waisfisz Q., Pronk J.C., Arwert F., Mathew C.G., Scheper R.J., Hoatlin M.E., Buchwald M., Joenje H. Nat. Genet. 24:15-16(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN FANCF.
[2]	"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].
[3]	NIEHS SNPs program Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-320.
[4]	"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: Brain and Skin.
[5]	"Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex." Kowal P., Gurtan A.M., Stuckert P., D'Andrea A.D., Ellenberger T. J. Biol. Chem. 282:2047-2055(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL PROTEIN SEQUENCE, MASS SPECTROMETRY, X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 156-357, MUTAGENESIS OF LEU-209; PHE-251; TYR-287; LEU-289; PHE-339; VAL-341 AND LEU-344, SUBUNIT.
[6]	"The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG." de Winter J.P., van der Weel L., de Groot J., Stone S., Waisfisz Q., Arwert F., Scheper R.J., Kruyt F.A.E., Hoatlin M.E., Joenje H. Hum. Mol. Genet. 9:2665-2674(2000) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION.
[7]	"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome." Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W. Mol. Cell. Biol. 23:3417-3426(2003) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCG AND FANCL.
[8]	"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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCG AND FANCL.
[9]	"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; FANCB; FANCC; FANCE; FANCG; FANCL AND FANCM.
[10]	"HES1 is a novel interactor of the Fanconi anemia core complex." Tremblay C.S., Huang F.F., Habi O., Huard C.C., Godin C., Levesque G., Carreau M. Blood 112:2062-2070(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH HES1, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Fanconi Anemia Mutation Database

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF181995 mRNA. Translation: AAF26298.1.
AF181994 mRNA. Translation: AAF26297.1.
AK023153 mRNA. Translation: BAB14433.1.
AY928335 Genomic DNA. Translation: AAX09677.1.
BC047028 mRNA. Translation: AAH47028.1.
BC093867 mRNA. Translation: AAH93867.1.
BC101807 mRNA. Translation: AAI01808.1.

IPI

IPI00009290.

RefSeq

NP_073562.1. NM_022725.3.

UniGene

Hs.632151.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2IQC	X-ray	2.40	A	156-357	[»]

ProteinModelPortal

Q9NPI8.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9NPI8. 6 interactions.

MINT

MINT-157055.

STRING

9606.ENSP00000330875.

PTM databases

PhosphoSite

Q9NPI8.

Polymorphism databases

DMDM

23821547.

Proteomic databases

PaxDb

Q9NPI8.

PRIDE

Q9NPI8.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000327470; ENSP00000330875; ENSG00000183161.

GeneID

2188.

KEGG

hsa:2188.

UCSC

uc001mql.1. human.

Organism-specific databases

CTD

2188.

GeneCards

GC11M022600.

HGNC

HGNC:3587. FANCF.

MIM

603467. phenotype.
613897. gene.

neXtProt

NX_Q9NPI8.

Orphanet

84. Fanconi anemia.

PharmGKB

PA28001.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG41771.

HOVERGEN

HBG051550.

InParanoid

Q9NPI8.

KO

K10893.

OMA

WARYLRH.

OrthoDB

EOG47SSFV.

PhylomeDB

Q9NPI8.

Enzyme and pathway databases

Pathway_Interaction_DB

bard1pathway. BARD1 signaling events.

Reactome

REACT_216. DNA Repair.

Gene expression databases

ArrayExpress

Q9NPI8.

Bgee

Q9NPI8.

CleanEx

HS_FANCF.

Genevestigator

Q9NPI8.

GermOnline

ENSG00000183161. Homo sapiens.

Family and domain databases

ProtoNet

Search...

Other

ChiTaRS

FANCF. human.

EvolutionaryTrace

Q9NPI8.

GenomeRNAi

2188.

NextBio

8843.

SOURCE

Search...

Entry information

Entry name

FANCF_HUMAN

Accession

Primary (citable) accession number: Q9NPI8
Secondary accession number(s): Q52LM0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 10, 2002
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.