Reviewed, UniProtKB/Swiss-Prot Q9NPI8 (FANCF_HUMAN)

Names and origin

Protein names

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

Gene names

Name:

FANCF

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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. Ref.5 Ref.6
Subcellular location	Nucleus Ref.6.
Involvement in disease	Defects in FANCF 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.7 Ref.8 Ref.9

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
Gene Ontology (GO)
Biological process	DNA repair Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Ref.6 Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FANCA	O15360	1	EBI-81589,EBI-81570

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: dbSNP rs7103293.

VAR_050988

Natural variant

320

1

P → L: dbSNP rs45451294. Ref.3

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)
	Q9NPI8-1 [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: 10615118] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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: 14702039] [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: 15489334] [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: 17082180] [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: 11063725] [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: 12724401] [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: 15502827] [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: 16116422] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCG; FANCL AND FANCM.
+	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.

UniGene

Hs.713574

3D structure databases

PDBe
RCSB PDB
PDBj

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

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9NPI8. 5 interactions.

STRING

Q9NPI8.

Proteomic databases

PRIDE

Q9NPI8.

Genome annotation databases

Ensembl

ENST00000327470; ENSP00000330875; ENSG00000183161; Homo sapiens. [Genome view]

GeneID

2188.

KEGG

hsa:2188.

UCSC

uc001mql.1. human.

Organism-specific databases

CTD

2188.

GeneCards

GC11M022600.

H-InvDB

HIX0009507.
HIX0036329.

HGNC

HGNC:3587. FANCF.

MIM

227650. phenotype.
603467. gene+phenotype.

Orphanet

84. Fanconi anemia.

PharmGKB

PA28001.

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

Q9NPI8.

InParanoid

Q9NPI8.

OMA

WARYLRH.

OrthoDB

EOG9NW25X.

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 Resources

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:	January 19, 2010
This is version 78 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.