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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 3.5.2.7 4 63
  • 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 Histidine metabolism and Metabolism. GO annotations related to this gene include hydrolase activity and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides.

No data available for Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around AMDHD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AMDHD1 Gene

Chromosome:
12
Start:
95,943,293 bp from pter
End:
95,968,716 bp from pter
Size:
25,424 bases
Orientation:
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:
    Q96NU7-HUTI_HUMAN
    Recommended name:
    Probable imidazolonepropionase
    Protein Accession:
    Q96NU7
    Secondary Accessions:
    • A8K463
    • Q68CI8

    Protein attributes for AMDHD1 Gene

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

neXtProt entry for AMDHD1 Gene

Proteomics data for AMDHD1 Gene at MOPED

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

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

Q96NU7

UniProtKB/Swiss-Prot:

HUTI_HUMAN :
  • Belongs to the HutI family.
Family:
  • Belongs to the HutI family.
genes like me logo Genes that share domains with AMDHD1: view

No data available for Gene Families for AMDHD1 Gene

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:0050480 imidazolonepropionase activity 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

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

Localization for AMDHD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMDHD1 Gene COMPARTMENTS Subcellular localization image for AMDHD1 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
peroxisome 2
plasma membrane 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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.

Interacting Proteins for AMDHD1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000266736%0d%0a9606.ENSP00000291670%0d%0a9606.ENSP00000373073%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000266736 for AMDHD1 Gene via STRING

Gene Ontology (GO) - Biological Process for AMDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006548 histidine catabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0019556 histidine catabolic process to glutamate and formamide IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
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

(5) 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
17340-16-8
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Formiminoglutamic acid
  • Formimino-glu
  • Formimino-L-glutamate
  • Formimino-L-glutamic acid
  • Formiminoglutamate
  • N-(Iminomethyl)-L-glutamic acid
816-90-0
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2: - -
SP3:

Relevant External Links for AMDHD1 Gene

GeneLoc Exon Structure for
AMDHD1
ECgene alternative splicing isoforms for
AMDHD1

Expression for AMDHD1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for AMDHD1 Gene



SOURCE GeneReport for Unigene cluster for AMDHD1 Gene Hs.424907

genes like me logo Genes that share expression patterns with AMDHD1: view

Protein tissue co-expression partners for AMDHD1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia AMDHD1 35
  • 90.51 (n)
  • 92.47 (a)
AMDHD1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMDHD1 35
  • 88.28 (n)
  • 89.5 (a)
AMDHD1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amdhd1 35
  • 87.61 (n)
  • 89.41 (a)
Amdhd1 16
Amdhd1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AMDHD1 35
  • 99.61 (n)
  • 99.06 (a)
AMDHD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amdhd1 35
  • 87 (n)
  • 88.65 (a)
oppossum
(Monodelphis domestica)
Mammalia AMDHD1 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMDHD1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMDHD1 35
  • 78.01 (n)
  • 82.63 (a)
AMDHD1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMDHD1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amdhd1 35
  • 70.58 (n)
  • 76.06 (a)
Str.19828 35
zebrafish
(Danio rerio)
Actinopterygii amdhd1 35
  • 68.24 (n)
  • 72.47 (a)
Dr.26841 35
AMDHD1 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11308 35
worm
(Caenorhabditis elegans)
Secernentea T12A2.1 35
  • 56.01 (n)
  • 48.69 (a)
T12A2.1 36
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for AMDHD1:
  • 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

ENSEMBL:
Gene Tree for AMDHD1 (if available)
TreeFam:
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
VAR_031419 -
rs17024904 - 95,966,394(+) CATGC(A/C)TGAGG reference, missense
rs1968486 -- 95,967,147(-) tcttg(A/C)ctgct intron-variant
rs1968487 -- 95,967,067(-) gaact(A/G)tgagt intron-variant
rs1982138 -- 95,952,816(-) GGTAG(A/G)ATACA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv7234 OTHER Inversion 18451855
nsv834 CNV Loss 18451855
esv2572405 CNV Loss 19546169
esv2519868 CNV Deletion 19546169
dgv34e180 CNV Deletion 20482838
esv1946077 CNV Deletion 18987734
esv4012 CNV Deletion 18987735
nsv512290 CNV Loss 21212237
esv2746242 CNV Deletion 23290073
esv8973 CNV Loss 19470904
esv1136533 CNV Deletion 17803354

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

HapMap Linkage Disequilibrium report
AMDHD1

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
  • pleomorphic lipoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for AMDHD1

Genetic Association Database (GAD)
AMDHD1
Human Genome Epidemiology (HuGE) Navigator
AMDHD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMDHD1
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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. 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

Products for AMDHD1 Gene

Sources for AMDHD1 Gene

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