Q6NZ36 · FAP20_HUMAN
- ProteinFanconi anemia core complex-associated protein 20
- GeneFAAP20
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids180 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds 'Lys-63'-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1.
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cell junction | |
Cellular Component | chromatin | |
Cellular Component | chromosome | |
Cellular Component | cytosol | |
Cellular Component | Fanconi anaemia nuclear complex | |
Cellular Component | nuclear body | |
Cellular Component | nucleoplasm | |
Molecular Function | K63-linked polyubiquitin modification-dependent protein binding | |
Molecular Function | metal ion binding | |
Molecular Function | polyubiquitin modification-dependent protein binding | |
Molecular Function | ubiquitin binding | |
Molecular Function | ubiquitin-modified protein reader activity | |
Biological Process | DNA damage response | |
Biological Process | interstrand cross-link repair | |
Biological Process | translesion synthesis |
Keywords
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameFanconi anemia core complex-associated protein 20
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ6NZ36
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Following DNA damage, recruited to DNA interstrand cross-links (ICLs) sites by binding to ubiquitin generated by RNF8.
Keywords
- Cellular component
Disease & Variants
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_038434 | 126 | in dbSNP:rs1058411 | |||
Sequence: P → S | ||||||
Mutagenesis | 147 | Abolishes binding to ubiquitin. Abolishes binding to ubiquitin; when associated with A-150. | ||||
Sequence: C → A | ||||||
Mutagenesis | 150 | Abolishes binding to ubiquitin; when associated with A-147. | ||||
Sequence: C → A | ||||||
Mutagenesis | 164 | Abolishes binding to ubiquitin. | ||||
Sequence: D → A | ||||||
Mutagenesis | 170 | Abolishes binding to ubiquitin. | ||||
Sequence: C → A |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 309 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000316882 | 1-180 | UniProt | Fanconi anemia core complex-associated protein 20 | |||
Sequence: MEAARRPRLGLSRRRPRPAGGPSGGRPWFLLGGDERERLWAELLRTVSPELILDHEVPSLPAFPGQEPRCGPEPTEVFTVGPKTFSWTPFPPDLWGPGRSYRLLHGAGGHLESPARSLPQRPAPDPCRAPRVEQQPSVEGAAALRSCPMCQKEFAPRLTQLDVDSHLAQCLAESTEDVTW | |||||||
Modified residue | 113 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 113 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 137 | UniProt | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Component of the Fanconi anemia (FA) complex. Interacts with FANCA; interaction is direct. Interacts with REV1. Reported to bind monoubiquitinated REV1; however it binds better to non-ubiquitinated REV1 (PubMed:22266823).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, zinc finger.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-28 | Disordered | ||||
Sequence: MEAARRPRLGLSRRRPRPAGGPSGGRPW | ||||||
Region | 106-135 | Disordered | ||||
Sequence: GAGGHLESPARSLPQRPAPDPCRAPRVEQQ | ||||||
Zinc finger | 144-180 | UBZ2-type | ||||
Sequence: LRSCPMCQKEFAPRLTQLDVDSHLAQCLAESTEDVTW |
Domain
The UBZ2-type zinc finger binds both 'Lys-48'- and 'Lys-63'-linked polyubiquitin with preference for 'Lys-63'-linked polyubiquitin.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 6 isoforms produced by Alternative splicing.
Q6NZ36-1
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.
- Name1
- Length180
- Mass (Da)19,869
- Last updated2008-02-05 v2
- ChecksumD8FC889A20AF732F
Q6NZ36-2
- Name2
- Differences from canonical
- 1-21: MEAARRPRLGLSRRRPRPAGG → MCGPEHLLCCPKDLAMFPRQLSLTACLPGTPVSHKCHHIWLWVGVPAWHPRASRCGGAQPSSWLRQKAARAFWLSLPAAKLRHHSSRWLRRSGAFSSGSTLKPPPSPSPAPLCHADNLRTGRTR
Q6NZ36-3
- Name3
- Differences from canonical
- 1-21: MEAARRPRLGLSRRRPRPAGG → MNFGLEKTHFHCARVSPNQKLFSNKAKLRHHSSRWLRRSGAFSSGSTLKPPPSPSPAPLCHADNLRTGRTR
Q6NZ36-4
- Name4
- NoteMay be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
- Differences from canonical
- 180-180: W → CLSWMCKTLNDPGSQG
Q6NZ36-5
- Name5
Q6NZ36-6
- Name6
- Differences from canonical
- 22-180: PSGGRPWFLLGGDERERLWAELLRTVSPELILDHEVPSLPAFPGQEPRCGPEPTEVFTVGPKTFSWTPFPPDLWGPGRSYRLLHGAGGHLESPARSLPQRPAPDPCRAPRVEQQPSVEGAAALRSCPMCQKEFAPRLTQLDVDSHLAQCLAESTEDVTW → SPGAARSPLKSSLSDPRPFPGHPFRRTCGARAVPTGCFTGQEGTWNPPPGPCPSARHLIPAGPPGWSSSRLWRVPRPCAAAPCARRSSPPG
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 1 | in Ref. 5; AAH66360 | ||||
Sequence: M → V | ||||||
Alternative sequence | VSP_030812 | 1-21 | in isoform 2 | |||
Sequence: MEAARRPRLGLSRRRPRPAGG → MCGPEHLLCCPKDLAMFPRQLSLTACLPGTPVSHKCHHIWLWVGVPAWHPRASRCGGAQPSSWLRQKAARAFWLSLPAAKLRHHSSRWLRRSGAFSSGSTLKPPPSPSPAPLCHADNLRTGRTR | ||||||
Alternative sequence | VSP_030813 | 1-21 | in isoform 3 | |||
Sequence: MEAARRPRLGLSRRRPRPAGG → MNFGLEKTHFHCARVSPNQKLFSNKAKLRHHSSRWLRRSGAFSSGSTLKPPPSPSPAPLCHADNLRTGRTR | ||||||
Sequence conflict | 17 | in Ref. 1; BAB70965, 4; EAW56125 and 5; AAH66360/AAI03993 | ||||
Sequence: R → P | ||||||
Alternative sequence | VSP_047264 | 22-180 | in isoform 6 | |||
Sequence: PSGGRPWFLLGGDERERLWAELLRTVSPELILDHEVPSLPAFPGQEPRCGPEPTEVFTVGPKTFSWTPFPPDLWGPGRSYRLLHGAGGHLESPARSLPQRPAPDPCRAPRVEQQPSVEGAAALRSCPMCQKEFAPRLTQLDVDSHLAQCLAESTEDVTW → SPGAARSPLKSSLSDPRPFPGHPFRRTCGARAVPTGCFTGQEGTWNPPPGPCPSARHLIPAGPPGWSSSRLWRVPRPCAAAPCARRSSPPG | ||||||
Sequence conflict | 65 | In isoform Q6NZ36-2; in Ref. 1; BAC86730 | ||||
Sequence: R → H | ||||||
Sequence conflict | 146 | in Ref. 2; AAQ04817 | ||||
Sequence: S → N | ||||||
Alternative sequence | VSP_030814 | 158 | in isoform 5 | |||
Sequence: L → YFNSRPHLCPAGS | ||||||
Alternative sequence | VSP_030815 | 159-180 | in isoform 5 | |||
Sequence: Missing | ||||||
Sequence conflict | 176-177 | in Ref. 2; AAQ04817 | ||||
Sequence: ED → KN | ||||||
Alternative sequence | VSP_030816 | 180 | in isoform 4 | |||
Sequence: W → CLSWMCKTLNDPGSQG |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK055593 EMBL· GenBank· DDBJ | BAB70965.1 EMBL· GenBank· DDBJ | mRNA | ||
AK126870 EMBL· GenBank· DDBJ | BAC86730.1 EMBL· GenBank· DDBJ | mRNA | ||
AF461903 EMBL· GenBank· DDBJ | AAQ04817.1 EMBL· GenBank· DDBJ | mRNA | ||
AL590822 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471183 EMBL· GenBank· DDBJ | EAW56125.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC066360 EMBL· GenBank· DDBJ | AAH66360.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
BC078145 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
BC103992 EMBL· GenBank· DDBJ | AAI03993.1 EMBL· GenBank· DDBJ | mRNA |