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Q0VG06

- FP100_HUMAN

UniProt

Q0VG06 - FP100_HUMAN

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Protein
Fanconi anemia-associated protein of 100 kDa
Gene
FAAP100, C17orf70
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.1 Publication

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. protein binding Source: IntAct
Complete GO annotation...

GO - Biological processi

  1. DNA repair Source: Reactome
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_18410. Fanconi Anemia pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia-associated protein of 100 kDa
Gene namesi
Name:FAAP100
Synonyms:C17orf70
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:26171. C17orf70.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. Fanconi anaemia nuclear complex Source: InterPro
  2. cytoplasm Source: HPA
  3. intermediate filament cytoskeleton Source: HPA
  4. nucleoplasm Source: Reactome
  5. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672253.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 881881Fanconi anemia-associated protein of 100 kDa
PRO_0000289130Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei667 – 6671Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ0VG06.
PaxDbiQ0VG06.
PRIDEiQ0VG06.

PTM databases

PhosphoSiteiQ0VG06.

Expressioni

Gene expression databases

ArrayExpressiQ0VG06.
BgeeiQ0VG06.
CleanExiHS_C17orf70.
GenevestigatoriQ0VG06.

Organism-specific databases

HPAiHPA023954.
HPA024626.
HPA026532.

Interactioni

Subunit structurei

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and FAAP100. Forms a subcomplex with FANCB and FANCL.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
FANCAO153603EBI-2557990,EBI-81570
FANCBQ8NB914EBI-2557990,EBI-2557983

Protein-protein interaction databases

BioGridi123196. 11 interactions.
IntActiQ0VG06. 5 interactions.
MINTiMINT-4789080.
STRINGi9606.ENSP00000333283.

Structurei

3D structure databases

ProteinModelPortaliQ0VG06.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG40999.
HOGENOMiHOG000112640.
HOVERGENiHBG107926.
InParanoidiQ0VG06.
KOiK10993.
OMAiIKASWDE.
OrthoDBiEOG7WT40J.
PhylomeDBiQ0VG06.
TreeFamiTF330817.

Family and domain databases

InterProiIPR029251. Faap100.
[Graphical view]
PfamiPF15146. FANCAA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q0VG06-1) [UniParc]FASTAAdd to Basket

Also known as: b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MAGAAPRVRY LAGFCCPLGG LAAGKPRVLC HEAEVFLSTG SELVYVYDQE    50
GGLLTAAFRF PDQVWHLELL APRRLLYALC ARRGLYCLSL DHPGRSRSTS 100
QDDRDSEDGD QPSPVIPVDP DACILPDAAL CAFTLLDSVL VTLVQGPARW 150
KMQLFEQPCP GEDPRPGGQI GEVELSSYTP PAGVPGKPAA PHFLPVLCSV 200
SPSGSRVPHD LLGGSGGFTL EDALFGLLFG ADATLLQSPV VLCGLPDGQL 250
CCVILKALVT SRSAPGDPNA LVKILHHLEE PVIFIGALKT EPQAAEAAEN 300
FLPDEDVHCD CLVAFGHHGR MLAIKASWDE SGKLVPELRE YCLPGPVLCA 350
ACGGGGRVYH STPSDLCVVD LSRGSTPLGP EQPEEGPGGL PPMLCPASLN 400
ICSVVSLSAS PRTHEGGTKL LALSAKGRLM TCSLDLDSEM PGPARMTTES 450
AGQKIKELLS GIGNISERVS FLKKAVDQRN KALTSLNEAM NVSCALLSSG 500
TGPRPISCTT STTWSRLQTQ DVLMATCVLE NSSSFSLDQG WTLCIQVLTS 550
SCALDLDSAC SAITYTIPVD QLGPGARREV TLPLGPGENG GLDLPVTVSC 600
TLFYSLREVV GGALAPSDSE DPFLDECPSD VLPEQEGVCL PLSRHTVDML 650
QCLRFPGLAP PHTRAPSPLG PTRDPVATFL ETCREPGSQP AGPASLRAEY 700
LPPSVASIKV SAELLRAALK DGHSGVPLCC ATLQWLLAEN AAVDVVRARA 750
LSSIQGVAPD GANVHLIVRE VAMTDLCPAG PIQAVEIQVE SSSLADICRA 800
HHAVVGRMQT MVTEQATQGS SAPDLRVQYL RQIHANHETL LREVQTLRDR 850
LCTEDEASSC ATAQRLLQVY RQLRHPSLIL L 881
Length:881
Mass (Da):93,433
Last modified:November 30, 2010 - v3
Checksum:iC586768FB1C7ABD2
GO
Isoform 2 (identifier: Q0VG06-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-628: Missing.
     629-665: SDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRA → MPASFPMLRCARSPCWTVCWSPWCRALPDGRCSCLSS

Note: No experimental confirmation available.

Show »
Length:253
Mass (Da):27,379
Checksum:i2E7DDEE936B426BA
GO
Isoform 3 (identifier: Q0VG06-3) [UniParc]FASTAAdd to Basket

Also known as: a

The sequence of this isoform differs from the canonical sequence as follows:
     1-151: Missing.

Show »
Length:730
Mass (Da):77,050
Checksum:i74F9837F3C90F630
GO

Sequence cautioni

The sequence AAH21968.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAB15251.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence CAD39037.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti660 – 6601P → L.2 Publications
Corresponds to variant rs11552304 [ dbSNP | Ensembl ].
VAR_032582
Natural varianti817 – 8171T → A.2 Publications
Corresponds to variant rs14422 [ dbSNP | Ensembl ].
VAR_032583

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 628628Missing in isoform 2.
VSP_025922Add
BLAST
Alternative sequencei1 – 151151Missing in isoform 3.
VSP_038262Add
BLAST
Alternative sequencei629 – 66537SDVLP…PHTRA → MPASFPMLRCARSPCWTVCW SPWCRALPDGRCSCLSS in isoform 2.
VSP_025923Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti654 – 6541R → C in BC008883. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK024644 mRNA. Translation: BAB14944.1.
AK025828 mRNA. Translation: BAB15251.1. Different initiation.
AC137896 Genomic DNA. No translation available.
CR978826 mRNA. No translation available.
BC001724 mRNA. Translation: AAH01724.1.
BC008883 mRNA. No translation available.
BC021968 mRNA. Translation: AAH21968.1. Different initiation.
BC117139 mRNA. Translation: AAI17140.1.
BC117141 mRNA. Translation: AAI17142.1.
AL834374 mRNA. Translation: CAD39037.2. Different initiation.
CCDSiCCDS32765.2. [Q0VG06-1]
RefSeqiNP_079437.5. NM_025161.5. [Q0VG06-1]
XP_006722175.1. XM_006722112.1. [Q0VG06-3]
UniGeneiHs.313905.

Genome annotation databases

EnsembliENST00000327787; ENSP00000333283; ENSG00000185504. [Q0VG06-1]
ENST00000537152; ENSP00000440151; ENSG00000185504. [Q0VG06-3]
GeneIDi80233.
KEGGihsa:80233.
UCSCiuc002kap.3. human. [Q0VG06-1]

Polymorphism databases

DMDMi313104237.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK024644 mRNA. Translation: BAB14944.1 .
AK025828 mRNA. Translation: BAB15251.1 . Different initiation.
AC137896 Genomic DNA. No translation available.
CR978826 mRNA. No translation available.
BC001724 mRNA. Translation: AAH01724.1 .
BC008883 mRNA. No translation available.
BC021968 mRNA. Translation: AAH21968.1 . Different initiation.
BC117139 mRNA. Translation: AAI17140.1 .
BC117141 mRNA. Translation: AAI17142.1 .
AL834374 mRNA. Translation: CAD39037.2 . Different initiation.
CCDSi CCDS32765.2. [Q0VG06-1 ]
RefSeqi NP_079437.5. NM_025161.5. [Q0VG06-1 ]
XP_006722175.1. XM_006722112.1. [Q0VG06-3 ]
UniGenei Hs.313905.

3D structure databases

ProteinModelPortali Q0VG06.
ModBasei Search...

Protein-protein interaction databases

BioGridi 123196. 11 interactions.
IntActi Q0VG06. 5 interactions.
MINTi MINT-4789080.
STRINGi 9606.ENSP00000333283.

PTM databases

PhosphoSitei Q0VG06.

Polymorphism databases

DMDMi 313104237.

Proteomic databases

MaxQBi Q0VG06.
PaxDbi Q0VG06.
PRIDEi Q0VG06.

Protocols and materials databases

DNASUi 80233.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000327787 ; ENSP00000333283 ; ENSG00000185504 . [Q0VG06-1 ]
ENST00000537152 ; ENSP00000440151 ; ENSG00000185504 . [Q0VG06-3 ]
GeneIDi 80233.
KEGGi hsa:80233.
UCSCi uc002kap.3. human. [Q0VG06-1 ]

Organism-specific databases

CTDi 80233.
GeneCardsi GC17M079506.
HGNCi HGNC:26171. C17orf70.
HPAi HPA023954.
HPA024626.
HPA026532.
MIMi 611301. gene.
neXtProti NX_Q0VG06.
PharmGKBi PA142672253.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40999.
HOGENOMi HOG000112640.
HOVERGENi HBG107926.
InParanoidi Q0VG06.
KOi K10993.
OMAi IKASWDE.
OrthoDBi EOG7WT40J.
PhylomeDBi Q0VG06.
TreeFami TF330817.

Enzyme and pathway databases

Reactomei REACT_18410. Fanconi Anemia pathway.

Miscellaneous databases

ChiTaRSi C17orf70. human.
GenomeRNAii 80233.
NextBioi 70677.
PROi Q0VG06.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q0VG06.
Bgeei Q0VG06.
CleanExi HS_C17orf70.
Genevestigatori Q0VG06.

Family and domain databases

InterProi IPR029251. Faap100.
[Graphical view ]
Pfami PF15146. FANCAA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 557-881 (ISOFORMS 1/3), VARIANTS LEU-660 AND ALA-817.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORMS 1 AND 3), VARIANTS LEU-660 AND ALA-817.
    Tissue: Brain.
  4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-150 (ISOFORM 1).
    Tissue: T-cell.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 482-881 (ISOFORMS 1/3).
    Tissue: Melanoma.
  6. Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE FA CORE COMPLEX.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-667, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiFP100_HUMAN
AccessioniPrimary (citable) accession number: Q0VG06
Secondary accession number(s): A6NNM1
, Q8N3F7, Q9BV13, Q9H6K7, Q9H7E8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: November 30, 2010
Last modified: September 3, 2014
This is version 73 of the entry and version 3 of the sequence. [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 17
    Human chromosome 17: 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

External Data

Dasty 3

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