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    FAN1 FANCD2 and FANCI associated nuclease 1 [ Homo sapiens (human) ]

    Gene ID: 22909, updated on 8-Jul-2021

    Summary

    Official Symbol
    FAN1provided by HGNC
    Official Full Name
    FANCD2 and FANCI associated nuclease 1provided by HGNC
    Primary source
    HGNC:HGNC:29170
    See related
    Ensembl:ENSG00000198690 MIM:613534
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KMIN; hFAN1; MTMR15; KIAA1018
    Summary
    This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in skin (RPKM 6.7), brain (RPKM 6.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FAN1 in Genome Data Viewer
    Location:
    15q13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (30903852..30943108)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (31196055..31235311)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene endonuclease domain containing 1 pseudogene Neighboring gene HERC2 pseudogene 10 Neighboring gene transmembrane protein 183A pseudogene Neighboring gene myotubularin related protein 10 Neighboring gene RNA, U6 small nuclear 466, pseudogene Neighboring gene uncharacterized LOC105370752 Neighboring gene transient receptor potential cation channel subfamily M member 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?

    Phenotypes

    Associated conditions

    Description Tests
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    GeneReviews: Not available
    Interstitial nephritis, karyomegalic
    MedGen: C3553774 OMIM: 614817 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp451H236, DKFZp686K16147

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5'-3' exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables 5'-3' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 5'-flap endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables 5'-flap endonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables flap-structured DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables flap-structured DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables magnesium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phosphodiesterase I activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in intercellular bridge 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
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    fanconi-associated nuclease 1
    Names
    FANCD2/FANCI-associated nuclease 1
    coiled-coil domain-containing protein MTMR15
    fanconi anemia associated nuclease 1
    myotubularin-related protein 15
    NP_001139566.1
    NP_001139567.1
    NP_001139568.1
    NP_055782.3
    XP_005254289.1
    XP_005254291.1
    XP_005254292.1
    XP_011519672.1
    XP_011519673.1
    XP_011519674.1
    XP_016877501.1
    XP_016877502.1
    XP_024305642.1

    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.

    Genomic

    1. NG_032946.2 RefSeqGene

      Range
      5064..44257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146094.2NP_001139566.1  fanconi-associated nuclease 1 isoform b

      See identical proteins and their annotated locations for NP_001139566.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a. Variants 2, 3 and 4 encode the same isoform (b).
      Source sequence(s)
      AK290987, BC044890, BX647391
      Consensus CDS
      CCDS58344.1
      UniProtKB/Swiss-Prot
      Q9Y2M0
      Related
      ENSP00000454544.1, ENST00000565466.5
      Conserved Domains (1) summary
      smart00734
      Location:4162
      ZnF_Rad18; Rad18-like CCHC zinc finger
    2. NM_001146095.1NP_001139567.1  fanconi-associated nuclease 1 isoform b

      See identical proteins and their annotated locations for NP_001139567.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, 3' UTR, and 3' coding region, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a. Variants 2, 3 and 4 encode the same isoform (b).
      Source sequence(s)
      BC044890, BC047882
      Consensus CDS
      CCDS58344.1
      UniProtKB/Swiss-Prot
      Q9Y2M0
      Related
      ENSP00000455983.1, ENST00000561594.5
      Conserved Domains (1) summary
      smart00734
      Location:4162
      ZnF_Rad18; Rad18-like CCHC zinc finger
    3. NM_001146096.2NP_001139568.1  fanconi-associated nuclease 1 isoform b

      See identical proteins and their annotated locations for NP_001139568.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR, and 3' coding region, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a. Variants 2, 3 and 4 encode the same isoform (b).
      Source sequence(s)
      BC044890, BP310263, BX647391
      Consensus CDS
      CCDS58344.1
      UniProtKB/Swiss-Prot
      Q9Y2M0
      Related
      ENSP00000454223.1, ENST00000561607.6
      Conserved Domains (1) summary
      smart00734
      Location:4162
      ZnF_Rad18; Rad18-like CCHC zinc finger
    4. NM_014967.5NP_055782.3  fanconi-associated nuclease 1 isoform a

      See identical proteins and their annotated locations for NP_055782.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB023235, BC044890, CR936727, CR936734, DA841207
      Consensus CDS
      CCDS32186.1
      UniProtKB/Swiss-Prot
      Q9Y2M0
      Related
      ENSP00000354497.4, ENST00000362065.9
      Conserved Domains (2) summary
      smart00734
      Location:4162
      ZnF_Rad18; Rad18-like CCHC zinc finger
      pfam08774
      Location:8941008
      VRR_NUC; VRR-NUC domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      30903852..30943108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254235.3XP_005254292.1  fanconi-associated nuclease 1 isoform X1

      See identical proteins and their annotated locations for XP_005254292.1

      UniProtKB/Swiss-Prot
      Q9Y2M0
      Related
      ENSP00000499703.1, ENST00000657391.1
      Conserved Domains (2) summary
      smart00734
      Location:4162
      ZnF_Rad18; Rad18-like CCHC zinc finger
      pfam08774
      Location:8941008
      VRR_NUC; VRR-NUC domain
    2. XM_024449874.1XP_024305642.1  fanconi-associated nuclease 1 isoform X3

      Conserved Domains (1) summary
      pfam08774
      Location:499613
      VRR_NUC; VRR-NUC domain
    3. XM_005254234.5XP_005254291.1  fanconi-associated nuclease 1 isoform X1

      See identical proteins and their annotated locations for XP_005254291.1

      UniProtKB/Swiss-Prot
      Q9Y2M0
      Related
      ENSP00000499534.1, ENST00000656435.1
      Conserved Domains (2) summary
      smart00734
      Location:4162
      ZnF_Rad18; Rad18-like CCHC zinc finger
      pfam08774
      Location:8941008
      VRR_NUC; VRR-NUC domain
    4. XM_011521372.2XP_011519674.1  fanconi-associated nuclease 1 isoform X4

      See identical proteins and their annotated locations for XP_011519674.1

      Conserved Domains (1) summary
      smart00734
      Location:4162
      ZnF_Rad18; Rad18-like CCHC zinc finger
    5. XM_005254232.4XP_005254289.1  fanconi-associated nuclease 1 isoform X1

      See identical proteins and their annotated locations for XP_005254289.1

      UniProtKB/Swiss-Prot
      Q9Y2M0
      Related
      ENSP00000499638.1, ENST00000670849.1
      Conserved Domains (2) summary
      smart00734
      Location:4162
      ZnF_Rad18; Rad18-like CCHC zinc finger
      pfam08774
      Location:8941008
      VRR_NUC; VRR-NUC domain
    6. XM_011521370.2XP_011519672.1  fanconi-associated nuclease 1 isoform X2

      See identical proteins and their annotated locations for XP_011519672.1

      Related
      ENSP00000499780.1, ENST00000664837.1
      Conserved Domains (1) summary
      pfam08774
      Location:500614
      VRR_NUC; VRR-NUC domain
    7. XM_011521371.1XP_011519673.1  fanconi-associated nuclease 1 isoform X3

      See identical proteins and their annotated locations for XP_011519673.1

      Conserved Domains (1) summary
      pfam08774
      Location:499613
      VRR_NUC; VRR-NUC domain
    8. XM_017022013.1XP_016877502.1  fanconi-associated nuclease 1 isoform X5

    9. XM_017022012.2XP_016877501.1  fanconi-associated nuclease 1 isoform X5

    RNA

    1. XR_001751151.1 RNA Sequence

      Related
      ENST00000656307.1
    2. XR_001751149.1 RNA Sequence

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p13 PATCHES

      Range
      3077132..3116385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      3189584..3228837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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