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Aliases for AMDHD1 Gene

Aliases for AMDHD1 Gene

  • Amidohydrolase Domain Containing 1 2 3 5
  • Amidohydrolase Domain-Containing Protein 1 3 4
  • EC 4 58
  • Probable Imidazolonepropionase 3
  • HMFT1272 3

External Ids for AMDHD1 Gene

Previous GeneCards Identifiers for AMDHD1 Gene

  • GC12P094840
  • GC12P096337
  • GC12P093401

Summaries for AMDHD1 Gene

GeneCards Summary for AMDHD1 Gene

AMDHD1 (Amidohydrolase Domain Containing 1) is a Protein Coding gene. Diseases associated with AMDHD1 include Atypical Lipomatous Tumor. Among its related pathways are Metabolism and Histidine metabolism. GO annotations related to this gene include hydrolase activity and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides.

Additional gene information for AMDHD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMDHD1 Gene

Genomics for AMDHD1 Gene

Regulatory Elements for AMDHD1 Gene

Enhancers for AMDHD1 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
GH12H095965 0.9 ENCODE 37.8 +23.3 23283 1.9 TBP FOXA2 MLX ARID4B ZSCAN9 RAD21 RARA YY1 MIXL1 THAP11 AMDHD1 HAL CCDC38 GC12M095961 GC12M095983
GH12H095994 1.5 Ensembl ENCODE dbSUPER 14.8 +52.7 52708 2.4 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 ELK1 ATF7 SP5 ZHX2 HAL AMDHD1 CCDC38 LOC102723340 GC12M095983
GH12H095858 1.1 ENCODE 10.3 -83.9 -83908 2.2 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF207 LOC105369921 AMDHD1 CCDC38 SNRPF PIR48032
GH12H095972 1 ENCODE 10.8 +30.2 30195 2.8 FOXA2 ATF1 MLX ARID4B SLC30A9 SP5 MXD4 PPARG KAT8 NFIL3 HAL CCDC38 AMDHD1 LOC102723340 GC12M095961 GC12M095983
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AMDHD1 on UCSC Golden Path with GeneCards custom track

Promoters for AMDHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000055953 -392 1800 ZFP64 ARID4B FEZF1 DMAP1 BRCA1 ZNF2 YY1 GLIS2 ZNF202 SP3

Genomic Locations for AMDHD1 Gene

Genomic Locations for AMDHD1 Gene
25,424 bases
Plus strand

Genomic View for AMDHD1 Gene

Genes around AMDHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMDHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMDHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMDHD1 Gene

Proteins for AMDHD1 Gene

  • Protein details for AMDHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable imidazolonepropionase
    Protein Accession:
    Secondary Accessions:
    • A8K463
    • Q68CI8

    Protein attributes for AMDHD1 Gene

    426 amino acids
    Molecular mass:
    46743 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available
    • Sequence=BAD38660.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for AMDHD1 Gene

Selected DME Specific Peptides for AMDHD1 Gene


Post-translational modifications for AMDHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMDHD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AMDHD1 Gene

Gene Families for AMDHD1 Gene

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

Protein Domains for AMDHD1 Gene

Suggested Antigen Peptide Sequences for AMDHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the metallo-dependent hydrolases superfamily. HutI family.
  • Belongs to the metallo-dependent hydrolases superfamily. HutI family.
genes like me logo Genes that share domains with AMDHD1: view

Function for AMDHD1 Gene

Molecular function for AMDHD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate + H(2)O = N-formimidoyl-L-glutamate + H(+).

Enzyme Numbers (IUBMB) for AMDHD1 Gene

Gene Ontology (GO) - Molecular Function for AMDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016787 hydrolase activity IEA --
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IEA --
GO:0016812 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides TAS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMDHD1: view
genes like me logo Genes that share phenotypes with AMDHD1: view

Animal Model Products

miRNA for AMDHD1 Gene

miRTarBase miRNAs that target AMDHD1

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AMDHD1 Gene

Localization for AMDHD1 Gene

Subcellular locations from

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 AMDHD1 gene
Compartment Confidence
cytosol 5
plasma membrane 2
cytoskeleton 2
peroxisome 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Focal adhesion sites (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AMDHD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AMDHD1 Gene

Pathways & Interactions for AMDHD1 Gene

genes like me logo Genes that share pathways with AMDHD1: view

Pathways by source for AMDHD1 Gene

UniProtKB/Swiss-Prot Q96NU7-HUTI_HUMAN

  • Pathway: Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 3/3.

Gene Ontology (GO) - Biological Process for AMDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006547 histidine metabolic process IEA --
GO:0006548 histidine catabolic process TAS --
GO:0019556 histidine catabolic process to glutamate and formamide IEA --
GO:0019557 histidine catabolic process to glutamate and formate IEA --
genes like me logo Genes that share ontologies with AMDHD1: view

No data available for SIGNOR curated interactions for AMDHD1 Gene

Drugs & Compounds for AMDHD1 Gene

(1) Drugs for AMDHD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(4) Additional Compounds for AMDHD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Imidazolone-5-propionic acid
  • (S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate
  • (S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoic acid
  • 3-(4-Oxo-4,5-dihydro-1H-imidazol-5-yl)propanoate
  • 3-(4-Oxo-4,5-dihydro-1H-imidazol-5-yl)propanoic acid
  • 3-(5-Oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
Formiminoglutamic acid
  • Formimino-glu
  • Formimino-L-glutamate
  • Formimino-L-glutamic acid
  • Formiminoglutamate
  • N-(Iminomethyl)-L-glutamic acid
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with AMDHD1: view

Transcripts for AMDHD1 Gene

Unigene Clusters for AMDHD1 Gene

Amidohydrolase domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMDHD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2: - -

Relevant External Links for AMDHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AMDHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AMDHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMDHD1 Gene

This gene is overexpressed in Liver (x39.5).

Protein differential expression in normal tissues from HIPED for AMDHD1 Gene

This gene is overexpressed in Liver (35.6), Liver, secretome (16.1), and Gallbladder (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AMDHD1 Gene

Protein tissue co-expression partners for AMDHD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AMDHD1 Gene:


SOURCE GeneReport for Unigene cluster for AMDHD1 Gene:


Evidence on tissue expression from TISSUES for AMDHD1 Gene

  • Liver(4.4)
  • Adrenal gland(4.2)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with AMDHD1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AMDHD1 Gene

Orthologs for AMDHD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AMDHD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AMDHD1 33 34
  • 99.61 (n)
(Bos Taurus)
Mammalia AMDHD1 33 34
  • 90.51 (n)
(Canis familiaris)
Mammalia AMDHD1 33 34
  • 88.28 (n)
(Mus musculus)
Mammalia Amdhd1 33 16 34
  • 87.61 (n)
(Rattus norvegicus)
Mammalia Amdhd1 33
  • 87 (n)
(Ornithorhynchus anatinus)
Mammalia AMDHD1 34
  • 84 (a)
(Monodelphis domestica)
Mammalia AMDHD1 34
  • 68 (a)
(Gallus gallus)
Aves AMDHD1 33 34
  • 78.01 (n)
(Anolis carolinensis)
Reptilia AMDHD1 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia amdhd1 33
  • 70.58 (n)
Str.19828 33
(Danio rerio)
Actinopterygii AMDHD1 34
  • 73 (a)
amdhd1 33
  • 68.24 (n)
Dr.26841 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11308 33
(Caenorhabditis elegans)
Secernentea T12A2.1 33 34
  • 56.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
Species where no ortholog for AMDHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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 AMDHD1 Gene

Gene Tree for AMDHD1 (if available)
Gene Tree for AMDHD1 (if available)

Paralogs for AMDHD1 Gene

No data available for Paralogs for AMDHD1 Gene

Variants for AMDHD1 Gene

Sequence variations from dbSNP and Humsavar for AMDHD1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000067318 -- 95,964,494(+) TCCTC(C/T)TTTAC intron-variant
rs1000135586 -- 95,963,049(+) TGCTC(C/T)GATTC intron-variant
rs1000178905 -- 95,958,032(+) TGGGC(A/G)ACAGA intron-variant
rs1000397522 -- 95,958,294(+) ATTTA(A/T)TATCA intron-variant
rs1000424561 -- 95,968,626(+) TAGAT(C/T)AGCAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for AMDHD1 Gene

Variant ID Type Subtype PubMed ID
nsv957392 CNV deletion 24416366
nsv834 CNV deletion 18451855
nsv7234 OTHER inversion 18451855
nsv512290 CNV loss 21212237
nsv1113510 CNV deletion 24896259
nsv1069690 CNV deletion 25765185
esv8973 CNV loss 19470904
esv4012 CNV loss 18987735
esv3549618 CNV deletion 23714750
esv3251385 CNV deletion 24192839
esv2746242 CNV deletion 23290073
esv2572405 CNV loss 19546169
esv2519868 CNV deletion 19546169
esv1946077 CNV deletion 18987734
esv1136533 CNV deletion 17803354
dgv34e180 CNV deletion 20482838

Variation tolerance for AMDHD1 Gene

Residual Variation Intolerance Score: 54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 54.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMDHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMDHD1 Gene

Disorders for AMDHD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AMDHD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atypical lipomatous tumor
  • liposarcoma, well differentiated
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for AMDHD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AMDHD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMDHD1 Gene

Publications for AMDHD1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S … Nakagawara A (Oncogene 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for AMDHD1 Gene

Sources for AMDHD1 Gene

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