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    AFMID arylformamidase [ Homo sapiens (human) ]

    Gene ID: 125061, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AFMIDprovided by HGNC
    Official Full Name
    arylformamidaseprovided by HGNC
    Primary source
    HGNC:HGNC:20910
    See related
    Ensembl:ENSG00000183077 AllianceGenome:HGNC:20910
    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
    KF; FKF; KFA
    Summary
    Predicted to enable arylformamidase activity. Predicted to be involved in tryptophan catabolic process to kynurenine. Predicted to be located in cytosol and nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 25.1), liver (RPKM 16.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AFMID in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78187362..78207702)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79081456..79101795)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76183443..76203783)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12875 Neighboring gene synaptogyrin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76171843-76172621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76172622-76173399 Neighboring gene thymidine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76180346-76181247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12879 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:76207979-76208182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76210079-76210980 Neighboring gene baculoviral IAP repeat containing 5 Neighboring gene MPRA-validated peak3015 silencer Neighboring gene transmembrane protein 235

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A human-specific switch of alternatively spliced AFMID isoforms contributes to TP53 mutations and tumor recurrence in hepatocellular carcinoma. Lin KT, et al. Genome Res, 2018 Mar 1. PMID 29449409, Free PMC Article
    2. Enzymology of NAD+ homeostasis in man. Magni G, et al. Cell Mol Life Sci, 2004 Jan. PMID 14704851, Free PMC Article
    3. Targeting TRIM37-driven centrosome dysfunction in 17q23-amplified breast cancer. Yeow ZY, et al. Nature, 2020 Sep. PMID 32908313, Free PMC Article
    4. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. Casabonne D, et al. Haematologica, 2011 Feb. PMID 21048031, Free PMC Article
    5. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A human-specific switch of alternatively spliced AFMID isoforms contributes to TP53 mutations and tumor recurrence in hepatocellular carcinoma
      Title: A human-specific switch of alternatively spliced AFMID isoforms contributes to TP53 mutations and tumor recurrence in hepatocellular carcinoma.
    2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC167063, DKFZp686F03259

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arylformamidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 'de novo' NAD biosynthetic process from tryptophan IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tryptophan catabolic process to kynurenine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tryptophan catabolic process to kynurenine IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kynurenine formamidase
    Names
    KFase
    N-formylkynurenine formamidase
    probable arylformamidase
    NP_001010982.2
    NP_001138998.1
    NP_001378928.1
    NP_001378929.1
    NP_001378930.1
    NP_001378931.1
    NP_001378932.1
    NP_001378933.1
    NP_001378934.1
    NP_001378935.1
    NP_001378936.1

    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.

    mRNA and Protein(s)

    1. NM_001010982.5 → NP_001010982.2  kynurenine formamidase isoform 2

      See identical proteins and their annotated locations for NP_001010982.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC087645
      Consensus CDS
      CCDS32750.2
      UniProtKB/Swiss-Prot
      A2RUB3, Q63HM1
      Related
      ENSP00000386890.4, ENST00000409257.10
      Conserved Domains (1) summary
      COG0657
      Location:54 → 262
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

    2. NM_001145526.3 → NP_001138998.1  kynurenine formamidase isoform 1

      See identical proteins and their annotated locations for NP_001138998.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC087645
      Consensus CDS
      CCDS45801.1
      UniProtKB/Swiss-Prot
      Q63HM1
      Related
      ENSP00000328938.5, ENST00000327898.9
      Conserved Domains (2) summary
      COG0657
      Location:54 → 262
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      cl21494
      Location:91 → 262
      Abhydrolase; alpha/beta hydrolases

    3. NM_001391999.1 → NP_001378928.1  kynurenine formamidase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC087645
      Conserved Domains (1) summary
      COG0657
      Location:54 → 199
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

    4. NM_001392000.1 → NP_001378929.1  kynurenine formamidase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC087645
      Conserved Domains (1) summary
      COG0657
      Location:54 → 102
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

    5. NM_001392001.1 → NP_001378930.1  kynurenine formamidase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC087645
      Conserved Domains (1) summary
      COG0657
      Location:54 → 151
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

    6. NM_001392002.1 → NP_001378931.1  kynurenine formamidase isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC087645
      Conserved Domains (1) summary
      COG0657
      Location:54 → 111
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

    7. NM_001392003.1 → NP_001378932.1  kynurenine formamidase isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC087645

    8. NM_001392004.1 → NP_001378933.1  kynurenine formamidase isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC087645

    9. NM_001392005.1 → NP_001378934.1  kynurenine formamidase isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC087645
      UniProtKB/TrEMBL
      K7EK09
      Conserved Domains (1) summary
      COG0657
      Location:54 → 111
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

    10. NM_001392006.1 → NP_001378935.1  kynurenine formamidase isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC087645
      UniProtKB/TrEMBL
      K7EK09
      Conserved Domains (1) summary
      COG0657
      Location:54 → 102
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

    11. NM_001392007.1 → NP_001378936.1  kynurenine formamidase isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC087645

    RNA

    1. NR_027083.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' coding exons and uses an alternate 3' terminal exon compared to variant 1. A very short 57 aa open reading frame can be translated but is unlikely to be functional, and therefore this variant is presumed to be noncoding.
      Source sequence(s)
      AC087645, BC020920
      Related
      ENST00000589256.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      78187362..78207702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007065262.1 RNA Sequence

    2. XR_934369.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79081456..79101795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008484782.1 RNA Sequence

    2. XR_008484781.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q63HM1.2 GenPept UniProtKB/Swiss-Prot:Q63HM1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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