FAAP24 FA core complex associated protein 24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAAP24provided by HGNC
Official Full Name: FA core complex associated protein 24provided by HGNC
Primary source: HGNC:HGNC:28467
See related: Ensembl:ENSG00000131944 MIM:610884; AllianceGenome:HGNC:28467
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: C19orf40
Summary: FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in testis (RPKM 3.8), lymph node (RPKM 1.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (32972242..32978229)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (35490917..35496903)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (33463148..33469135)

Chromosome 19 - NC_000019.10 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
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?

This is the first report of an FAAP24 loss of function mutation found in human patients with EBV-associated lymphoproliferation.
Title: Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24.
These results demonstrate dual roles of FAAP24 in DNA damage response against crosslinking lesions, one through the formation of FANCM/FAAP24 heterodimer and the other via its ssDNA-binding activity required in optimized checkpoint activation.
Title: Structure analysis of FAAP24 reveals single-stranded DNA-binding activity and domain functions in DNA damage response.
Crystal structure of the FANCM-FAAP24 complex.
Title: Architecture and DNA recognition elements of the Fanconi anemia FANCM-FAAP24 complex.
Results show that the first HhH motif of FAAP24 is a potential binding site for DNA, which plays a critical role in targeting FANCM-FAAP24 to chromatin.
Title: Structural insights into the functions of the FANCM-FAAP24 complex in DNA repair.
FANCM and FAAP24 play multiple, while not fully epistatic, roles in maintaining genomic integrity.
Title: FANCM and FAAP24 maintain genome stability via cooperative as well as unique functions.
FANCM/FAAP24 plays a role in ICL-induced checkpoint activation through regulating RPA recruiment at ICL-stalled replication forks.
Title: The FANCM/FAAP24 complex is required for the DNA interstrand crosslink-induced checkpoint response.
DNA damage recognition and remodeling activities of FANCM and FAAP24 cooperate to promote efficient activation of DNA damage checkpoints in Fanconi anemia.
Title: FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex.
FANCM is an anchor required for recruitment of the FA core complex to chromatin, and the FANCM/FAAP24 interaction is essential for this chromatin-loading activity
Title: Cell cycle-dependent chromatin loading of the Fanconi anemia core complex by FANCM/FAAP24.
FAAP24 is dispensable for DNA binding and branch migration activity of FANCM.
Title: The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks.
FAAP24 targets FANCM to structures that mimic intermediates formed during the replication/repair of damaged DNA.
Title: Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

D11S2560 (e-PCR)
- UniSTS:37928

D3S1673 (e-PCR)
- UniSTS:148450

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in interstrand cross-link repair	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of FANCM-MHF complex	IPI Inferred from Physical Interaction more info	PubMed
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
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	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 24

Names: Fanconi anemia core complex associated protein 24; Fanconi anemia-associated protein of 24 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_001300978.2 → NP_001287907.1 Fanconi anemia core complex-associated protein 24 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC011449, AK128668, BC020247, BM679170, BX390218, CD690094, CN368337

Consensus CDS

CCDS74327.1

UniProtKB/TrEMBL

K7EKQ4

Related

ENSP00000465728.1, ENST00000590179.1

Conserved Domains (2) summary

pfam12826
Location:71 → 120

HHH_2; Helix-hairpin-helix motif

pfam17949
Location:1 → 39

PND; FANCM pseudonuclease domain
NM_152266.5 → NP_689479.1 Fanconi anemia core complex-associated protein 24 isoform 1

See identical proteins and their annotated locations for NP_689479.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC011449, AK128668, BC020247, BM679170, BX390218, CD690094, CN368337

Consensus CDS

CCDS12426.1

UniProtKB/Swiss-Prot

B3KY46, Q8WUJ7, Q96FX6, Q9BTP7

UniProtKB/TrEMBL

A0A0S2Z5V6

Related

ENSP00000466121.1, ENST00000588258.6

Conserved Domains (2) summary

pfam12826
Location:166 → 215

HHH_2; Helix-hairpin-helix motif

pfam17949
Location:11 → 134

PND; FANCM pseudonuclease domain

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

32972242..32978229

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259393.4 → XP_005259450.1 Fanconi anemia core complex-associated protein 24 isoform X1

Conserved Domains (1) summary

pfam12826
Location:123 → 172

HHH_2; Helix-hairpin-helix motif