Format

Send to:

Choose Destination

FAAP100 FA core complex associated protein 100 [ Homo sapiens (human) ]

Gene ID: 80233, updated on 26-Nov-2021

Summary

Official Symbol
FAAP100provided by HGNC
Official Full Name
FA core complex associated protein 100provided by HGNC
Primary source
HGNC:HGNC:26171
See related
Ensembl:ENSG00000185504 MIM:611301
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
C17orf70
Summary
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 [PubMed 17396147]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in spleen (RPKM 8.4), prostate (RPKM 5.1) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FAAP100 in Genome Data Viewer
Location:
17q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (81539891..81552399, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79506917..79519379, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene actin gamma 1 Neighboring gene fascin actin-bundling protein 2, retinal Neighboring gene NPL4 homolog, ubiquitin recognition factor Neighboring gene tetraspanin 10

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22175, FLJ30151

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in protein monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 100
Names
Fanconi anemia associated protein 100 kDa subunit
Fanconi anemia core complex 100 kDa subunit
Fanconi anemia core complex associated protein 100
Fanconi anemia-associated protein, 100kDa
fanconi anemia-associated protein of 100 kDa

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_025161.6NP_079437.5  Fanconi anemia core complex-associated protein 100 isoform b

    See identical proteins and their annotated locations for NP_079437.5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the shorter transcript and encodes the functional protein.
    Source sequence(s)
    AC137896, AL834374, DA103390, DQ989324
    Consensus CDS
    CCDS32765.2
    UniProtKB/Swiss-Prot
    Q0VG06
    UniProtKB/TrEMBL
    A4ZI32
    Related
    ENSP00000333283.8, ENST00000327787.13
    Conserved Domains (1) summary
    pfam15146
    Location:449881
    FANCAA; Fanconi anemia-associated

RNA

  1. NR_033338.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) uses an alternate splice site, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC137896, AL834374, BC008883, DA103390
    Related
    ENST00000443656.6

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    81539891..81552399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722111.2XP_006722174.1  Fanconi anemia core complex-associated protein 100 isoform X1

    Conserved Domains (1) summary
    pfam15146
    Location:449743
    FANCAA; Fanconi anemia-associated
  2. XM_006722112.3XP_006722175.1  Fanconi anemia core complex-associated protein 100 isoform X2

    UniProtKB/Swiss-Prot
    Q0VG06
    Conserved Domains (1) summary
    pfam15146
    Location:298730
    FANCAA; Fanconi anemia-associated
  3. XM_017025163.1XP_016880652.1  Fanconi anemia core complex-associated protein 100 isoform X2

    UniProtKB/Swiss-Prot
    Q0VG06
    Conserved Domains (1) summary
    pfam15146
    Location:298730
    FANCAA; Fanconi anemia-associated
  4. XM_017025162.1XP_016880651.1  Fanconi anemia core complex-associated protein 100 isoform X2

    UniProtKB/Swiss-Prot
    Q0VG06
    Conserved Domains (1) summary
    pfam15146
    Location:298730
    FANCAA; Fanconi anemia-associated

RNA

  1. XR_001752653.1 RNA Sequence

Support Center