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AFMID arylformamidase [ Homo sapiens (human) ]

Gene ID: 125061, updated on 5-Mar-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 hydrolase 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, Apr 2022]
Expression
Broad expression in kidney (RPKM 25.1), liver (RPKM 16.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q25.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78187362..78207702)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79081456..79101795)
105.20220307 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: 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

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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 Feb 15. PMID 29449409, Free PMC Article
  2. Enzymology of NAD+ homeostasis in man. Magni G, et al. Cell Mol Life Sci, 2004 Jan. PMID 14704851
  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. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

See all (15) 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)

Genotypes

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_2023_10

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

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