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Aliases for AFMID Gene

Aliases for AFMID Gene

  • Arylformamidase 2 3 4 5
  • N-Formylkynurenine Formamidase 3 4
  • Kynurenine Formamidase 2 3
  • KFase 3 4
  • FKF 3 4
  • KFA 3 4
  • Probable Arylformamidase 3
  • EC 3.5.1.9 4
  • KF 3

External Ids for AFMID Gene

Previous GeneCards Identifiers for AFMID Gene

  • GC17P076780
  • GC17U900085
  • GC17P073695
  • GC17P076183
  • GC17P071607

Summaries for AFMID Gene

GeneCards Summary for AFMID Gene

AFMID (Arylformamidase) is a Protein Coding gene. Diseases associated with AFMID include Glaucomatocyclitic Crisis. Among its related pathways are Metabolism and superpathway of tryptophan utilization. GO annotations related to this gene include hydrolase activity and arylformamidase activity.

UniProtKB/Swiss-Prot for AFMID Gene

  • Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites.

Additional gene information for AFMID Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFMID Gene

Genomics for AFMID Gene

Regulatory Elements for AFMID Gene

Enhancers for AFMID Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H078170 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.3 -11.0 -11044 6 HDGF YY1 GLIS2 ZNF143 KLF7 RUNX3 PAF1 SP3 ZHX2 REST AFMID C17orf99 TNRC6C-AS1 SYNGR2 TK1 TMC6 PGS1 SOCS3 GC17P078174
GH17H078120 2 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -57.2 -57153 14 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A YBX1 FEZF1 USP36 TMC8 TMC6 SYNGR2 AFMID TK1 TNRC6C-AS1 ENGASE PGS1 TNRC6C
GH17H078255 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +72.6 72593 4 HDGF PKNOX1 TCF12 GLIS2 CBX5 GATA2 ELK1 ATF7 RUNX3 ZNF592 THA1P PGS1 SOCS3 AFMID TK1 TMC8 TMC6 LINC01993 TNRC6C C17orf99
GH17H078250 1.8 FANTOM5 ENCODE dbSUPER 11.2 +67.8 67763 4 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 THA1P USP36 TMC8 SEPT9 AFMID TK1 TMC6 TMEM235 TNRC6C PIR55590
GH17H078136 1.6 Ensembl ENCODE dbSUPER 12 -45.4 -45371 6 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF766 ZNF143 FOS USP36 SYNGR2 AFMID TK1 TNRC6C-AS1 TMC8 TMC6 C17orf99
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AFMID on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AFMID gene promoter:

Genomic Location for AFMID Gene

Chromosome:
17
Start:
78,185,102 bp from pter
End:
78,207,701 bp from pter
Size:
22,600 bases
Orientation:
Plus strand

Genomic View for AFMID Gene

Genes around AFMID on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFMID Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AFMID Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFMID Gene

Proteins for AFMID Gene

  • Protein details for AFMID Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q63HM1-KFA_HUMAN
    Recommended name:
    Kynurenine formamidase
    Protein Accession:
    Q63HM1
    Secondary Accessions:
    • A2RUB3

    Protein attributes for AFMID Gene

    Size:
    303 amino acids
    Molecular mass:
    33992 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for AFMID Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AFMID Gene

Post-translational modifications for AFMID Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AFMID Gene

Domains & Families for AFMID Gene

Gene Families for AFMID Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AFMID Gene

Suggested Antigen Peptide Sequences for AFMID Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q63HM1

UniProtKB/Swiss-Prot:

KFA_HUMAN :
  • The main chain amide nitrogen atoms of the second glycine and its adjacent residue in the HGGXW motif define the oxyanion hole, and stabilize the oxyanion that forms during the nucleophilic attack by the catalytic serine during substrate cleavage.
  • Belongs to the kynurenine formamidase family.
Domain:
  • The main chain amide nitrogen atoms of the second glycine and its adjacent residue in the HGGXW motif define the oxyanion hole, and stabilize the oxyanion that forms during the nucleophilic attack by the catalytic serine during substrate cleavage.
Family:
  • Belongs to the kynurenine formamidase family.
genes like me logo Genes that share domains with AFMID: view

Function for AFMID Gene

Molecular function for AFMID Gene

UniProtKB/Swiss-Prot CatalyticActivity:
N-formyl-L-kynurenine + H(2)O = formate + L-kynurenine.
UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites.

Enzyme Numbers (IUBMB) for AFMID Gene

Phenotypes From GWAS Catalog for AFMID Gene

Gene Ontology (GO) - Molecular Function for AFMID Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004061 arylformamidase activity IEA --
GO:0016787 hydrolase activity IBA --
genes like me logo Genes that share ontologies with AFMID: view
genes like me logo Genes that share phenotypes with AFMID: view

Animal Models for AFMID Gene

MGI Knock Outs for AFMID:

Animal Model Products

  • Taconic Biosciences Mouse Models for AFMID

CRISPR Products

miRNA for AFMID Gene

miRTarBase miRNAs that target AFMID

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AFMID
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AFMID Gene

Localization for AFMID Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFMID Gene

Cytoplasm, cytosol. Nucleus. Note=Predominantly cytosolic. Some fraction is nuclear. {ECO:0000255 HAMAP-Rule:MF_03014}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AFMID gene
Compartment Confidence
nucleus 4
cytosol 4
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AFMID Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with AFMID: view

Pathways & Interactions for AFMID Gene

genes like me logo Genes that share pathways with AFMID: view

UniProtKB/Swiss-Prot Q63HM1-KFA_HUMAN

  • Pathway: Amino-acid degradation; L-tryptophan degradation via kynurenine pathway; L-kynurenine from L-tryptophan: step 2/2.

Gene Ontology (GO) - Biological Process for AFMID Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006569 tryptophan catabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0019441 tryptophan catabolic process to kynurenine IBA,IEA --
genes like me logo Genes that share ontologies with AFMID: view

No data available for SIGNOR curated interactions for AFMID Gene

Drugs & Compounds for AFMID Gene

(5) Drugs for AFMID Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Anthranilic acid Experimental Pharma 1
Formic acid Experimental Pharma 0
L-Kynurenine Pharma Tryptophan catabolite; endogenous aryl hydrocarbon receptor ligand 0
NAD Pharma Full agonist, Agonist 0

(7) Additional Compounds for AFMID Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Hydroxykynurenine
  • 5-Hydroxy-L-kynurenine
720-00-3
5-Hydroxy-N-formylkynurenine
Formylanthranilic acid
  • 2-(Formylamino)-benzoate
  • 2-(Formylamino)-benzoic acid
  • 2-(Formylamino)benzoate
  • 2-(Formylamino)benzoic acid
  • 2-Formamidobenzoate
3342-77-6
Hydroxykynurenine
  • 3-(3-Hydroxyanthraniloyl)-Alanine
  • 3-Hydroxy-DL-kynurenine
  • 3-Hydroxy-Kynurenine
  • 3-Hydroxykynurenine
  • DL-3-Hydroxykynurenine
484-78-6
L-Formylkynurenine
genes like me logo Genes that share compounds with AFMID: view

Transcripts for AFMID Gene

Unigene Clusters for AFMID Gene

Arylformamidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AFMID
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AFMID Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e
SP1: - - - -
SP2: - -
SP3: - - - - - - -
SP4: - - -
SP5: - - - - - - - -
SP6: -
SP7: - - - - - - - - - - - - -
SP8: - - - - - - - - - -
SP9:
SP10: - - - - - - - - - - - - - -

Relevant External Links for AFMID Gene

GeneLoc Exon Structure for
AFMID
ECgene alternative splicing isoforms for
AFMID

Expression for AFMID Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AFMID Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AFMID Gene

This gene is overexpressed in Liver (x8.0).

Protein differential expression in normal tissues from HIPED for AFMID Gene

This gene is overexpressed in Gallbladder (17.2), Salivary gland (15.2), Skin (13.1), and Liver (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AFMID Gene



Protein tissue co-expression partners for AFMID Gene

NURSA nuclear receptor signaling pathways regulating expression of AFMID Gene:

AFMID

SOURCE GeneReport for Unigene cluster for AFMID Gene:

Hs.558614

Evidence on tissue expression from TISSUES for AFMID Gene

  • Liver(2.2)
genes like me logo Genes that share expression patterns with AFMID: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AFMID Gene

Orthologs for AFMID Gene

This gene was present in the common ancestor of animals.

Orthologs for AFMID Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AFMID 33 34
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia AFMID 33 34
  • 83.68 (n)
cow
(Bos Taurus)
Mammalia AFMID 33 34
  • 83.11 (n)
mouse
(Mus musculus)
Mammalia Afmid 33 16 34
  • 77.78 (n)
rat
(Rattus norvegicus)
Mammalia Afmid 33
  • 76.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 45 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AFMID 34
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves AFMID 33 34
  • 64.42 (n)
lizard
(Anolis carolinensis)
Reptilia AFMID 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia afmid 33
  • 58.3 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537894 33
  • 58.36 (n)
afmid 34
  • 48 (a)
OneToMany
CU929356.4 34
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009433 33
  • 46.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta KFase 33
  • 44.44 (n)
CG9542 34
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea D2024.2 33
  • 44.9 (n)
afmd-1 34
  • 29 (a)
OneToMany
Y45F10A.3 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
-- 34
  • 26 (a)
OneToMany
Species where no ortholog for AFMID was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AFMID Gene

ENSEMBL:
Gene Tree for AFMID (if available)
TreeFam:
Gene Tree for AFMID (if available)

Paralogs for AFMID Gene

No data available for Paralogs for AFMID Gene

Variants for AFMID Gene

Sequence variations from dbSNP and Humsavar for AFMID Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000149054 -- 78,183,113(+) GATCC(A/C)CCCGC intron-variant, upstream-variant-2KB
rs1000291354 -- 78,205,300(+) GCAGG(A/G)CTTCG intron-variant
rs1000367993 -- 78,186,021(+) TTTGG(A/G)ATGCT intron-variant, upstream-variant-2KB
rs1000693784 -- 78,190,116(+) GCCAC(C/G)GCGCC intron-variant
rs1000712127 -- 78,196,137(+) GGCGG(C/T)GGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AFMID Gene

Variant ID Type Subtype PubMed ID
nsv1113891 CNV deletion 24896259
nsv524306 CNV gain 19592680

Variation tolerance for AFMID Gene

Residual Variation Intolerance Score: 41.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.69; 72.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AFMID Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AFMID

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFMID Gene

Disorders for AFMID Gene

MalaCards: The human disease database

(1) MalaCards diseases for AFMID Gene - From: DISEASES

Disorder Aliases PubMed IDs
glaucomatocyclitic crisis
  • terrien-viel syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AFMID in MalaCards View complete list of genes associated with diseases

Relevant External Links for AFMID

Human Genome Epidemiology (HuGE) Navigator
AFMID
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AFMID
genes like me logo Genes that share disorders with AFMID: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AFMID Gene

Publications for AFMID Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 60
  3. 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. (PMID: 21048031) Casabonne D … de Sanjose S (Haematologica 2011) 3 60
  4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K … Gorospe M (The EMBO journal 2009) 3 60
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 60

Products for AFMID Gene

Sources for AFMID Gene

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