AFMID Gene (Protein Coding)

Arylformamidase

GC17P078185
GIFtS:
38
See more...

Aliases for AFMID Gene

Aliases for AFMID Gene

  • Arylformamidase 2 3 4 5
  • Kynurenine Formamidase 2 3 4
  • N-Formylkynurenine Formamidase 3 4
  • KFase 3 4
  • FKF 3 4
  • KFA 3 4
  • KF 2 3
  • Probable Arylformamidase 3
  • DKFZp686F03259 2
  • EC 3.5.1.9 4
  • AFMID 5

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 Hypertryptophanemia. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Tryptophan metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and arylformamidase activity. An important paralog of this gene is AADAC.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for AFMID Gene

Genomics for AFMID Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AFMID Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AFMID on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AFMID

Top Transcription factor binding sites by QIAGEN in the AFMID gene promoter:
  • Sp1

Genomic Locations for AFMID Gene

Latest Assembly
chr17:78,185,102-78,207,702
(GRCh38/hg38)
Size:
22,601 bases
Orientation:
Plus strand

Previous Assembly
chr17:76,183,398-76,203,782
(GRCh37/hg19 by Entrez Gene)
Size:
20,385 bases
Orientation:
Plus strand

chr17:76,183,398-76,203,782
(GRCh37/hg19 by Ensembl)
Size:
20,385 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 Structure • Gene Density

RefSeq DNA sequence for AFMID Gene

Proteins for AFMID Gene

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  • 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

Protein Expression for AFMID Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AFMID Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AFMID Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AFMID Gene

GenScript: Design optimal peptide antigens:
  • AFMID protein (A5PLM3_HUMAN)
  • Kynurenine formamidase (AFMID_HUMAN)

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

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for AFMID Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-formyl-L-kynurenine = formate + H(+) + L-kynurenine; Xref=Rhea:RHEA:13009, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15740, ChEBI:CHEBI:57959, ChEBI:CHEBI:58629; EC=3.5.1.9; Evidence={ECO:0000255|HAMAP-Rule:MF_03014};.

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 IBA --
GO:0005515 protein binding IPI 32296183
GO:0016787 hydrolase activity IBA 21873635
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:
  • Afmid Afmid<tm1a(EUCOMM)Wtsi>
  • Afmid Afmid<tm1b(EUCOMM)Wtsi>
  • Afmid Afmid<tm1Vnd>

Animal Models for research

  • Taconic Biosciences Mouse Models for AFMID

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFMID

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
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AFMID Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
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:0009435 NAD biosynthetic process IBA --
GO:0019441 tryptophan catabolic process to kynurenine IBA,IEA --
GO:0034354 'de novo' NAD biosynthetic process from tryptophan 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

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(6) 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, Investigational Pharma 0
L-Kynurenine Experimental Pharma Tryptophan catabolite; endogenous aryl hydrocarbon receptor ligand 0
NAD Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Hydroxykynurenine
  • 2-Amino-4-(2-amino-5-hydroxyphenyl)-4-oxobutanoic acid
  • 2-Amino-4-(2-amino-5-hydroxyphenyl)-4-oxobutanoate
  • 5-Hydroxy-L-kynurenine
  • 5-Hydroxykynurenine, (L)-isomer
 720-00-3
5-Hydroxy-N-formylkynurenine
Formylanthranilic acid
  • 2-(Formylamino)-benzoic acid
  • 2-(Formylamino)benzoic acid
  • N-Formylanthranilate
  • 2-(Formylamino)-benzoate
  • 2-(Formylamino)benzoate
 3342-77-6
Hydroxykynurenine
  • 2-Amino-4-(2-amino-3-hydroxyphenyl)-4-oxobutanoic acid
  • 3-(3-Hydroxyanthraniloyl)alanine
  • 3-Hydroxy-DL-kynurenine
  • 2-Amino-4-(2-amino-3-hydroxyphenyl)-4-oxobutanoate
  • 3-(3-Hydroxyanthraniloyl)-alanine
 484-78-6
L-Formylkynurenine
  • 3-(2-Formamidobenzoyl)-L-alanine
  • N'-formylkynurenine
  • N-Formylkynurenine
  • N-Formyl-L-kynurenine
  • L-Formylkynurenine
genes like me logo Genes that share compounds with AFMID: view

Transcripts for AFMID Gene

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mRNA/cDNA for AFMID Gene

11 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFMID

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

Expression for AFMID Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for AFMID Gene
mRNA expression by BioGPS for AFMID GenemRNA expression by GTEx 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, MaxQB, and MOPED for AFMID Gene



Protein tissue co-expression partners for AFMID Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AFMID

SOURCE GeneReport for Unigene cluster for AFMID Gene:

Hs.558614

Evidence on tissue expression from TISSUES for AFMID Gene

  • Liver(2.6)
  • Kidney(2.4)
  • Nervous system(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with AFMID: view

Primer products for research

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 30 31
  • 99.34 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AFMID 30 31
  • 83.68 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AFMID 30 31
  • 83.11 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Afmid 30 17 31
  • 77.78 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Afmid 30
  • 76.76 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 45 (a)
 OneToMany
-- 31
  • 43 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia AFMID 31
  • 34 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves AFMID 30 31
  • 64.42 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AFMID 31
  • 48 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia afmid 30
  • 58.3 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100537894 30
  • 58.36 (n)
afmid 31
  • 48 (a)
 OneToMany
CU929356.4 31
  • 47 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009433 30
  • 46.62 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta KFase 30
  • 44.44 (n)
CG9542 31
  • 24 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea D2024.2 30
  • 44.9 (n)
afmd-1 31
  • 29 (a)
 OneToMany
Y45F10A.3 31
  • 25 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
Species where no ortholog for AFMID was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AFMID: view image

Paralogs for AFMID Gene

Paralogs for AFMID Gene

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

Variants for AFMID Gene

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dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AFMID Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for AFMID Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AFMID Gene

Disorders for AFMID Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypertryptophanemia
  • hyptrp
- elite association - COSMIC cancer census association via MalaCards
Search AFMID in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AFMID

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. A human-specific switch of alternatively spliced AFMID isoforms contributes to TP53 mutations and tumor recurrence in hepatocellular carcinoma. (PMID: 29449409) Lin KT … Krainer AR (Genome research 2018) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3

ExternalLinks

View latest publications for AFMID gene in Mastermind

Products for AFMID Gene

Sources for AFMID Gene