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

    Gene ID: 199990, updated on 3-Dec-2024

    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, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.9), brain (RPKM 2.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FAAP20 in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 103 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1556 Neighboring gene PRKCZ divergent transcript Neighboring gene protein kinase C zeta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2016670-2017668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2026419-2026920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2026921-2027420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 46 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2061703-2062652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2062653-2063602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2064553-2065502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2068353-2069301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2071397-2071980 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:2105285-2105451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2107005-2107613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2111308-2112266 Neighboring gene uncharacterized LOC112268219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 47 Neighboring gene PRKCZ antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2127179-2127845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2130467-2131064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2135273-2136272 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:2136793-2136951 Neighboring gene uncharacterized LOC105378593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2141004-2141857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2143180-2144018 Neighboring gene uncharacterized LOC124903823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2155824-2156324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2157679-2158499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2162329-2162990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 49 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2167621-2168533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2168534-2169446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2172187-2173099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2174837-2175357 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2178827-2179753 Neighboring gene hESC enhancers GRCh37_chr1:2179754-2180679 and GRCh37_chr1:2180680-2181606 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:2186989-2188188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2188191-2188788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 51 Neighboring gene SKI proto-oncogene Neighboring gene Sharpr-MPRA regulatory region 2016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2202895-2203857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2204820-2205782 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2206746-2207708 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2209681-2210475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2210476-2211270 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:2211723-2212922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2214621-2215290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2215961-2216629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 52 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2224323-2225233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2225474-2225974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2229335-2229846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2229847-2230358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 53 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2238093-2238726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2244613-2245266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 110 Neighboring gene uncharacterized LOC124903824 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2246747-2247500

    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

    Clone Names

    • FLJ30256, FLJ31031, FLJ36608, FLJ43456, FLJ46660, MGC120153

    Gene Ontology Provided by GOA

    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

    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)

    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_001146310.2NP_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:63176
      PRK12323; DNA polymerase III subunits gamma and tau; Provisional
    2. NM_001256945.2NP_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:1135
      PRK12323; DNA polymerase III subunit gamma/tau
    3. NM_001256946.2NP_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:144157
      UBZ_FAAP20; Ubiquitin-binding zinc-finger
      pfam15751
      Location:35139
      FANCA_interact; FAAP20 FANCA interaction domain
    4. NM_001256947.2NP_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
    5. NM_001282670.2NP_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:248281
      UBZ_FAAP20; Ubiquitin-binding zinc-finger
      pfam15751
      Location:138242
      FANCA_interact; FAAP20 FANCA interaction domain
    6. NM_001282671.2NP_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
    7. NM_001282672.2NP_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
    8. NM_001282673.2NP_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:144158
      UBZ_FAAP20; Ubiquitin-binding zinc-finger
      pfam15751
      Location:35139
      FANCA_interact; FAAP20 FANCA interaction domain
    9. NM_182533.4NP_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:144178
      UBZ_FAAP20; Ubiquitin-binding zinc-finger
      pfam15751
      Location:35139
      FANCA_interact; FAAP20 FANCA interaction domain

    RNA

    1. 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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      2184477..2212720 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448526.1XP_047304482.1  Fanconi anemia core complex-associated protein 20 isoform X5

    2. XM_017000554.3XP_016856043.1  Fanconi anemia core complex-associated protein 20 isoform X14

    3. XM_047448529.1XP_047304485.1  Fanconi anemia core complex-associated protein 20 isoform X6

    4. XM_047448522.1XP_047304478.1  Fanconi anemia core complex-associated protein 20 isoform X4

    5. XM_047448545.1XP_047304501.1  Fanconi anemia core complex-associated protein 20 isoform X9

    6. XM_047448563.1XP_047304519.1  Fanconi anemia core complex-associated protein 20 isoform X13

    7. XM_047448517.1XP_047304473.1  Fanconi anemia core complex-associated protein 20 isoform X2

    8. XM_047448516.1XP_047304472.1  Fanconi anemia core complex-associated protein 20 isoform X1

    9. XM_047448519.1XP_047304475.1  Fanconi anemia core complex-associated protein 20 isoform X3

    10. XM_047448544.1XP_047304500.1  Fanconi anemia core complex-associated protein 20 isoform X8

    11. XM_047448550.1XP_047304506.1  Fanconi anemia core complex-associated protein 20 isoform X10

    12. XM_047448539.1XP_047304495.1  Fanconi anemia core complex-associated protein 20 isoform X7

    13. XM_047448559.1XP_047304515.1  Fanconi anemia core complex-associated protein 20 isoform X12

      UniProtKB/TrEMBL
      H7C361
    14. XM_047448555.1XP_047304511.1  Fanconi anemia core complex-associated protein 20 isoform X11

      UniProtKB/TrEMBL
      H7C361
      Related
      ENSP00000405430.1, ENST00000428120.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      1619452..1648129 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334906.1XP_054190881.1  Fanconi anemia core complex-associated protein 20 isoform X17

    2. XM_054334917.1XP_054190892.1  Fanconi anemia core complex-associated protein 20 isoform X14

    3. XM_054334907.1XP_054190882.1  Fanconi anemia core complex-associated protein 20 isoform X18

    4. XM_054334905.1XP_054190880.1  Fanconi anemia core complex-associated protein 20 isoform X16

    5. XM_054334912.1XP_054190887.1  Fanconi anemia core complex-associated protein 20 isoform X9

    6. XM_054334916.1XP_054190891.1  Fanconi anemia core complex-associated protein 20 isoform X13

    7. XM_054334908.1XP_054190883.1  Fanconi anemia core complex-associated protein 20 isoform X1

    8. XM_054334904.1XP_054190879.1  Fanconi anemia core complex-associated protein 20 isoform X15

    9. XM_054334909.1XP_054190884.1  Fanconi anemia core complex-associated protein 20 isoform X3

    10. XM_054334911.1XP_054190886.1  Fanconi anemia core complex-associated protein 20 isoform X8

    11. XM_054334913.1XP_054190888.1  Fanconi anemia core complex-associated protein 20 isoform X10

    12. XM_054334910.1XP_054190885.1  Fanconi anemia core complex-associated protein 20 isoform X7

    13. XM_054334915.1XP_054190890.1  Fanconi anemia core complex-associated protein 20 isoform X12

      UniProtKB/TrEMBL
      H7C361
    14. XM_054334914.1XP_054190889.1  Fanconi anemia core complex-associated protein 20 isoform X11

      UniProtKB/TrEMBL
      H7C361

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_024445.1: Suppressed sequence

      Description
      NR_024445.1: This RefSeq was permanently suppressed because it is primarily intronic sequence.