FAAP20 FA core complex associated protein 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAAP20provided by HGNC
Official Full Name: FA core complex associated protein 20provided by HGNC
Primary source: HGNC:HGNC:26428
See related: Ensembl:ENSG00000162585 MIM:615183; AllianceGenome:HGNC:26428
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FP7162; C1orf86
Summary: Enables K63-linked polyubiquitin modification-dependent protein binding activity and ubiquitin-modified protein reader activity. Involved in interstrand cross-link repair and translesion synthesis. Located in cell junction; chromosome; and nuclear body. Part of Fanconi anaemia nuclear complex and chromatin. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis (RPKM 2.9), brain (RPKM 2.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (2184477..2212720, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (1619452..1648129, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (2115916..2144159, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fanconi anemia associated protein 20 (FAAP20) plays an essential role in homology-directed repair of DNA double-strand breaks.
Title: Fanconi anemia associated protein 20 (FAAP20) plays an essential role in homology-directed repair of DNA double-strand breaks.
Acetylation modulates the Fanconi anemia pathway by protecting FAAP20 from ubiquitin-mediated proteasomal degradation.
Title: Acetylation modulates the Fanconi anemia pathway by protecting FAAP20 from ubiquitin-mediated proteasomal degradation.
Study identify SCF-FBW7 as a ubiquitin E3 ligase that regulates the cellular FAAP20 levels and Fanconi anemia (FA) pathway. Deregulation of the GSK3beta- and FBW7-dependent FAAP20 degradation leads to a defect in the FA pathway, establishing a direct link between FBW7 and DNA repair.
Title: FBW7 regulates DNA interstrand cross-link repair by modulating FAAP20 degradation.
Data suggest Rev1 protein recognition mechanism by Fanconi anemia-associated protein 20 (FAAP20).
Title: Biophysical characterization of the interaction between FAAP20-UBZ4 domain and Rev1-BRCT domain.
FAAP20 contains a conserved ubiquitin-binding zinc-finger domain and binds K-63-linked ubiquitin chains in vitro. The FAAP20-UBZ domain is not required for interaction with FANCA, but is required for DNA-damage-induced chromatin loading of FANCA and the functional integrity of the Fanconi anemia pathway.
Title: FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway.
FAAP20-ubiquitin interaction expands beyond the compact UBZ domain and requires the folding and interaction of the otherwise disordered C-terminal tail of FAAP20 for high-affinity binding.
Title: Ubiquitin recognition by FAAP20 expands the complex interface beyond the canonical UBZ domain.
Data indicate that RNF8 and FAAP20 (C1orf86) are needed for efficient Fanconi anemia group D2 protein FANCD2 monoubiquitination.
Title: A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network.
FAAP20 is an important player involved in the Fanconi anemia pathway
Title: Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S243 (e-PCR)
- UniSTS:70410

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-74115 (e-PCR)
- UniSTS:9505

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:487232

RH16310 (e-PCR)
- UniSTS:88177

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D17S1136 (e-PCR)
- UniSTS:473214

D11S3114 (e-PCR)
- UniSTS:152207

D1S243 (e-PCR)
- UniSTS:23966

SHGC-74107 (e-PCR)
- UniSTS:78499

G44365 (e-PCR)
- UniSTS:95151

RH103396 (e-PCR)
- UniSTS:97722

RH98469 (e-PCR)
- UniSTS:86206

SHGC-74104 (e-PCR)
- UniSTS:64967

SHGC-3360 (e-PCR)
- UniSTS:173265

Clone Names

FLJ30256, FLJ31031, FLJ36608, FLJ43456, FLJ46660, MGC120153

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables K63-linked polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables K63-linked polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin-modified protein reader activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in interstrand cross-link repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interstrand cross-link repair	NAS Non-traceable Author Statement more info	PubMed
involved_in translesion synthesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Fanconi anaemia nuclear complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Fanconi anaemia nuclear complex	IDA Inferred from Direct Assay more info	PubMed
part_of Fanconi anaemia nuclear complex	NAS Non-traceable Author Statement more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: Fanconi anemia core complex-associated protein 20

Names: FANCA-associated protein of 20 kDa; Fanconi anemia core complex associated protein 20; Fanconi anemia-associated protein of 20 kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001146310.2 → NP_001139782.1 Fanconi anemia core complex-associated protein 20 isoform 1

See identical proteins and their annotated locations for NP_001139782.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) shares a central coding exon but includes alternate exon structure in both its 5' and 3' regions, and it thus differs in both UTRs and in the coding region, compared to variant 2. The encoded isoform (1) is distinct and longer, compared to isoform 2, but it shares regions in common with isoforms 3 and 5.

Source sequence(s)

AK127994

UniProtKB/TrEMBL

Q6ZRT9

Related

ENST00000469733.5

Conserved Domains (1) summary

PRK12323
Location:63 → 176

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_001256945.2 → NP_001243874.2 Fanconi anemia core complex-associated protein 20 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon that results in a frameshift in the 5' and subsequent coding region, and it uses an alternate 3' exon and thus differs in the 3' UTR, compared to variant 2. The encoded isoform (3) has a distinct C-terminus and is longer than isoform 2.

Source sequence(s)

AL590822

Consensus CDS

CCDS72686.1

UniProtKB/TrEMBL

F6S8H2

Related

ENSP00000383710.4, ENST00000400919.7

Conserved Domains (1) summary

PRK12323
Location:1 → 135

PRK12323; DNA polymerase III subunit gamma/tau
NM_001256946.2 → NP_001243875.2 Fanconi anemia core complex-associated protein 20 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate 3' exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 2. The encoded isoform (4) has a distinct C-terminus and is longer than isoform 2.

Source sequence(s)

AL590822

UniProtKB/TrEMBL

H7C361

Related

ENSP00000409721.1, ENST00000420515.1

Conserved Domains (2) summary

pfam15750
Location:144 → 157

UBZ_FAAP20; Ubiquitin-binding zinc-finger

pfam15751
Location:35 → 139

FANCA_interact; FAAP20 FANCA interaction domain
NM_001256947.2 → NP_001243876.2 Fanconi anemia core complex-associated protein 20 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an alternate exon that results in a frameshift in the 5' and subsequent coding region, compared to variant 2. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 2.

Source sequence(s)

AL590822

Consensus CDS

CCDS57965.1

Related

ENSP00000367804.2, ENST00000378543.2
NM_001282670.2 → NP_001269599.1 Fanconi anemia core complex-associated protein 20 isoform 6

Status: VALIDATED

Description

Transcript Variant: This variant (6) contains an alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 2. The encoded isoform (6) has a distinct and longer N-terminus than isoform 2.

Source sequence(s)

AK126870, AL590822, BC066360, BU542153

UniProtKB/Swiss-Prot

Q6NZ36

Related

ENST00000487186.5

Conserved Domains (2) summary

pfam15750
Location:248 → 281

UBZ_FAAP20; Ubiquitin-binding zinc-finger

pfam15751
Location:138 → 242

FANCA_interact; FAAP20 FANCA interaction domain
NM_001282671.2 → NP_001269600.1 Fanconi anemia core complex-associated protein 20 isoform 7

See identical proteins and their annotated locations for NP_001269600.1

Status: VALIDATED

Description

Transcript Variant: This variant (7) uses alternate exon structure in its 3' region, compared to variant 2. The encoded isoform (7) is distinct and shorter, compared to isoform 2, but it shares regions in common with isoforms 1 and 3. Both variants 7 and 8 encode the same isoform (7).

Source sequence(s)

AL590822

UniProtKB/TrEMBL

Q7Z4P6
NM_001282672.2 → NP_001269601.1 Fanconi anemia core complex-associated protein 20 isoform 7

See identical proteins and their annotated locations for NP_001269601.1

Status: VALIDATED

Description

Transcript Variant: This variant (8) uses alternate exon structure in its 3' region, compared to variant 2. The encoded isoform (7) is distinct and shorter, compared to isoform 2, but it shares regions in common with isoforms 1 and 3. Both variants 7 and 8 encode the same isoform (7).

Source sequence(s)

AL590822

UniProtKB/TrEMBL

Q7Z4P6
NM_001282673.2 → NP_001269602.2 Fanconi anemia core complex-associated protein 20 isoform 8

Status: VALIDATED

Description

Transcript Variant: This variant (10) uses an alternate 3' exon structure and it thus differs in the 3' coding region and 3' UTR, compared to variant 2. The encoded isoform (8) has a distinct C-terminus and is shorter than isoform 2.

Source sequence(s)

AL590822

Consensus CDS

CCDS72687.1

UniProtKB/TrEMBL

H7C361

Related

ENSP00000383709.3, ENST00000400918.7

Conserved Domains (2) summary

pfam15750
Location:144 → 158

UBZ_FAAP20; Ubiquitin-binding zinc-finger

pfam15751
Location:35 → 139

FANCA_interact; FAAP20 FANCA interaction domain
NM_182533.4 → NP_872339.3 Fanconi anemia core complex-associated protein 20 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) encodes isoform 2.

Source sequence(s)

AL590822

Consensus CDS

CCDS38.2

UniProtKB/Swiss-Prot

A6PW39, A6PW40, A6PW41, A8MQT6, F2Z2L4, Q6NZ36, Q6ZT64, Q71M24, Q96ND7

UniProtKB/TrEMBL

H7C361

Related

ENSP00000367808.4, ENST00000378546.9

Conserved Domains (2) summary

pfam15750
Location:144 → 178

UBZ_FAAP20; Ubiquitin-binding zinc-finger

pfam15751
Location:35 → 139

FANCA_interact; FAAP20 FANCA interaction domain

RNA

NR_046427.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (9) includes an additional internal exon, compared to variant 2. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL590822

Related

ENST00000440825.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

2184477..2212720 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047448526.1 → XP_047304482.1 Fanconi anemia core complex-associated protein 20 isoform X5
XM_017000554.3 → XP_016856043.1 Fanconi anemia core complex-associated protein 20 isoform X14
XM_047448529.1 → XP_047304485.1 Fanconi anemia core complex-associated protein 20 isoform X6
XM_047448522.1 → XP_047304478.1 Fanconi anemia core complex-associated protein 20 isoform X4
XM_047448545.1 → XP_047304501.1 Fanconi anemia core complex-associated protein 20 isoform X9
XM_047448563.1 → XP_047304519.1 Fanconi anemia core complex-associated protein 20 isoform X13
XM_047448517.1 → XP_047304473.1 Fanconi anemia core complex-associated protein 20 isoform X2
XM_047448516.1 → XP_047304472.1 Fanconi anemia core complex-associated protein 20 isoform X1
XM_047448519.1 → XP_047304475.1 Fanconi anemia core complex-associated protein 20 isoform X3
XM_047448544.1 → XP_047304500.1 Fanconi anemia core complex-associated protein 20 isoform X8
XM_047448550.1 → XP_047304506.1 Fanconi anemia core complex-associated protein 20 isoform X10
XM_047448539.1 → XP_047304495.1 Fanconi anemia core complex-associated protein 20 isoform X7
XM_047448559.1 → XP_047304515.1 Fanconi anemia core complex-associated protein 20 isoform X12
XM_047448555.1 → XP_047304511.1 Fanconi anemia core complex-associated protein 20 isoform X11

Related

ENSP00000405430.1, ENST00000428120.5

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

1619452..1648129 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334906.1 → XP_054190881.1 Fanconi anemia core complex-associated protein 20 isoform X17
XM_054334917.1 → XP_054190892.1 Fanconi anemia core complex-associated protein 20 isoform X14
XM_054334907.1 → XP_054190882.1 Fanconi anemia core complex-associated protein 20 isoform X18
XM_054334905.1 → XP_054190880.1 Fanconi anemia core complex-associated protein 20 isoform X16
XM_054334912.1 → XP_054190887.1 Fanconi anemia core complex-associated protein 20 isoform X9
XM_054334916.1 → XP_054190891.1 Fanconi anemia core complex-associated protein 20 isoform X13
XM_054334908.1 → XP_054190883.1 Fanconi anemia core complex-associated protein 20 isoform X1
XM_054334904.1 → XP_054190879.1 Fanconi anemia core complex-associated protein 20 isoform X15
XM_054334909.1 → XP_054190884.1 Fanconi anemia core complex-associated protein 20 isoform X3
XM_054334911.1 → XP_054190886.1 Fanconi anemia core complex-associated protein 20 isoform X8
XM_054334913.1 → XP_054190888.1 Fanconi anemia core complex-associated protein 20 isoform X10
XM_054334910.1 → XP_054190885.1 Fanconi anemia core complex-associated protein 20 isoform X7
XM_054334915.1 → XP_054190890.1 Fanconi anemia core complex-associated protein 20 isoform X12
XM_054334914.1 → XP_054190889.1 Fanconi anemia core complex-associated protein 20 isoform X11