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

Gene ID: 22909, updated on 6-Sep-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
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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
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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)

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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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