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

Gene ID: 199990, updated on 7-Jun-2020

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
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
Expression
Ubiquitous expression in testis (RPKM 2.9), brain (RPKM 2.8) and 25 other tissues See more
Orthologs

Genomic context

See FAAP20 in Genome Data Viewer
Location:
1p36.33
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2184457..2212720, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2115899..2144159, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378591 Neighboring gene protein kinase C zeta Neighboring gene uncharacterized LOC112268219 Neighboring gene PRKCZ antisense RNA 1 Neighboring gene uncharacterized LOC105378593 Neighboring gene Sharpr-MPRA regulatory region 12294 Neighboring gene SKI proto-oncogene Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene MORN repeat 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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
K63-linked polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
K63-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
interstrand cross-link repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
translesion synthesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Fanconi anaemia nuclear complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Fanconi anaemia nuclear complex IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
chromosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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_001146310.1NP_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, BM674927
    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
    Related
    ENSP00000383710.4, ENST00000400919.7
  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
    Related
    ENSP00000409721.1, ENST00000420515.1
  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_001282670.1NP_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_001282671.1NP_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)
    AF469129, AK055593, AL590822, BM682341
    UniProtKB/Swiss-Prot
    Q6NZ36
    UniProtKB/TrEMBL
    Q7Z4P6
  7. NM_001282672.1NP_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)
    AK055593, AL590822, BM682341
    UniProtKB/Swiss-Prot
    Q6NZ36
    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
    Related
    ENSP00000383709.3, ENST00000400918.7
  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
    Related
    ENSP00000367808.4, ENST00000378546.9

RNA

  1. NR_046427.1 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)
    AK055593, AL545931, AL590822, BC066360, BU542153

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    2184457..2212720 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000554.2XP_016856043.1  Fanconi anemia core complex-associated protein 20 isoform X7

  2. XM_017000556.2XP_016856045.1  Fanconi anemia core complex-associated protein 20 isoform X8

    UniProtKB/TrEMBL
    Q7Z4P6
  3. XM_017000555.2XP_016856044.1  Fanconi anemia core complex-associated protein 20 isoform X8

    UniProtKB/TrEMBL
    Q7Z4P6
  4. XM_011540914.2XP_011539216.1  Fanconi anemia core complex-associated protein 20 isoform X1

    See identical proteins and their annotated locations for XP_011539216.1

    Conserved Domains (1) summary
    pfam15751
    Location:176280
    FANCA_interact; FAAP20 FANCA interaction domain
  5. XM_017000553.1XP_016856042.1  Fanconi anemia core complex-associated protein 20 isoform X2

  6. XM_011540921.2XP_011539223.1  Fanconi anemia core complex-associated protein 20 isoform X4

    Conserved Domains (2) summary
    pfam15750
    Location:215227
    UBZ_FAAP20; Ubiquitin-binding zinc-finger
    pfam15751
    Location:105209
    FANCA_interact; FAAP20 FANCA interaction domain
  7. XM_006710419.3XP_006710482.1  Fanconi anemia core complex-associated protein 20 isoform X3

    Conserved Domains (1) summary
    pfam15751
    Location:138242
    FANCA_interact; FAAP20 FANCA interaction domain
  8. XM_017000557.1XP_016856046.1  Fanconi anemia core complex-associated protein 20 isoform X9

    Related
    ENSP00000410740.2, ENST00000440825.6
  9. XM_006710421.3XP_006710484.1  Fanconi anemia core complex-associated protein 20 isoform X6

    Conserved Domains (2) summary
    pfam15750
    Location:135147
    UBZ_FAAP20; Ubiquitin-binding zinc-finger
    pfam15751
    Location:35129
    FANCA_interact; FAAP20 FANCA interaction domain
  10. XM_011540922.1XP_011539224.1  Fanconi anemia core complex-associated protein 20 isoform X5

    Related
    ENSP00000405430.1, ENST00000428120.5
    Conserved Domains (2) summary
    pfam15750
    Location:145157
    UBZ_FAAP20; Ubiquitin-binding zinc-finger
    pfam15751
    Location:35139
    FANCA_interact; FAAP20 FANCA interaction domain

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.
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