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

Gene ID: 91442, updated on 25-Nov-2021

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
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
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Genomic context

See FAAP24 in Genome Data Viewer
Location:
19q13.11
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (32972212..32978229)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33463148..33469135)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 7 member 9 Neighboring gene RN7SK pseudogene 22 Neighboring gene centrosomal protein 89 Neighboring gene ribosomal protein L31 pseudogene 60 Neighboring gene rhophilin Rho GTPase binding protein 2 Neighboring gene HNF1 motif-containing MPRA enhancer 165 Neighboring gene G-patch domain containing 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46828, MGC32020

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
PubMed 
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
PubMed 
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 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

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)

  1. NM_001300978.2NP_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/Swiss-Prot
    Q9BTP7
    UniProtKB/TrEMBL
    K7EKQ4
    Related
    ENSP00000465728.1, ENST00000590179.1
    Conserved Domains (2) summary
    pfam12826
    Location:71120
    HHH_2; Helix-hairpin-helix motif
    pfam17949
    Location:139
    PND; FANCM pseudonuclease domain
  2. NM_152266.5NP_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
    Q9BTP7
    UniProtKB/TrEMBL
    A0A0S2Z5V6
    Related
    ENSP00000466121.1, ENST00000588258.6
    Conserved Domains (2) summary
    pfam12826
    Location:166215
    HHH_2; Helix-hairpin-helix motif
    pfam17949
    Location:11134
    PND; FANCM pseudonuclease domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    32972212..32978229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259393.3XP_005259450.1  Fanconi anemia core complex-associated protein 24 isoform X1

    Conserved Domains (1) summary
    pfam12826
    Location:123172
    HHH_2; Helix-hairpin-helix motif
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