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FAAP100
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  • FAAP100
PROTEIN SUMMARY SECTION OVERVIEW GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

FAAP100
Synonyms C17orf70, FLJ22175
Gene descriptioni

Full gene name according to HGNC.

FA core complex associated protein 100
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 17
Cytoband q25.3
Chromosome location (bp) 81539885 - 81553961
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

5
Ensembl ENSG00000185504 (version 109)
Entrez gene 80233
HGNC HGNC:26171
UniProt Q0VG06 (UniProt - Evidence at protein level)
neXtProt NX_Q0VG06
GeneCards FAAP100
Antibodypedia FAAP100 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

DNA-binding
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

DNA damage, DNA repair
Gene summary (Entrez)i

Useful information about the gene from Entrez

FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007).[supplied by OMIM, Mar 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
FAAP100-201
ENSP00000333283
ENST00000327787
Q0VG06
[Direct mapping] Fanconi anemia core complex-associated protein 100
Show all
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0006281 [DNA repair]
GO:0006513 [protein monoubiquitination]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
881 aa
93.4 kDa
No 0
FAAP100-202
ENSP00000399674
ENST00000425898
E7EVV8
[Direct mapping] Fanconi anemia core complex-associated protein 100
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
530 aa
56.6 kDa
No 0
FAAP100-204
ENSP00000443415
ENST00000536161
F5H5G6
[Direct mapping] Fanconi anemia core complex-associated protein 100
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
172 aa
18 kDa
No 0
FAAP100-205
ENSP00000438149
ENST00000541246
F5H095
[Direct mapping] Fanconi anemia core complex-associated protein 100
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
300 aa
31.1 kDa
No 0
FAAP100-206
ENSP00000444241
ENST00000544302
F5GZS4
[Direct mapping] Fanconi anemia core complex-associated protein 100
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
249 aa
25.8 kDa
No 0

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