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

Gene ID: 199990, updated on 6-Jun-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-dependent protein binding activity. Involved in interstrand cross-link repair and translesion synthesis. Located in cell junction; chromosome; and nuclear body. Part of Fanconi anaemia nuclear complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 2.9), brain (RPKM 2.8) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (2184477..2212720, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1619452..1648129, complement)
105.20220307 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
 
part_of 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_2023_10

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.