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AMDHD1 amidohydrolase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 144193, updated on 21-Dec-2019

Summary

Official Symbol
AMDHD1provided by HGNC
Official Full Name
amidohydrolase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:28577
See related
Ensembl:ENSG00000139344
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
HMFT1272
Expression
Biased expression in liver (RPKM 25.7), adrenal (RPKM 6.0) and 1 other tissue See more
Orthologs

Genomic context

See AMDHD1 in Genome Data Viewer
Location:
12q23.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (95943331..95968720)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (96337071..96362370)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369921 Neighboring gene long intergenic non-protein coding RNA 2410 Neighboring gene small nuclear ribonucleoprotein polypeptide F Neighboring gene coiled-coil domain containing 38 Neighboring gene AMDHD1 eExon liver enhancer Neighboring gene uncharacterized LOC102723340 Neighboring gene histidine ammonia-lyase Neighboring gene leukotriene A4 hydrolase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC35366

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides TAS
Traceable Author Statement
more info
 
imidazolonepropionase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
histidine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histidine catabolic process TAS
Traceable Author Statement
more info
 
histidine catabolic process to glutamate and formamide IEA
Inferred from Electronic Annotation
more info
 
histidine catabolic process to glutamate and formate IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
probable imidazolonepropionase
Names
amidohydrolase domain-containing protein 1
NP_689648.2

NCBI Reference Sequences (RefSeq)

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_152435.3NP_689648.2  probable imidazolonepropionase

    See identical proteins and their annotated locations for NP_689648.2

    Status: VALIDATED

    Source sequence(s)
    AB075878, AC126174, AK122802, BC029146
    Consensus CDS
    CCDS9057.1
    UniProtKB/Swiss-Prot
    Q96NU7
    UniProtKB/TrEMBL
    B3KVC5
    Related
    ENSP00000266736.2, ENST00000266736.7
    Conserved Domains (2) summary
    COG1228
    Location:25425
    HutI; Imidazolonepropionase or related amidohydrolase [Secondary metabolites biosynthesis, transport and catabolism]
    cd01296
    Location:43420
    Imidazolone-5PH; Imidazolonepropionase/imidazolone-5-propionate hydrolase (Imidazolone-5PH) catalyzes the third step in the histidine degradation pathway, the hydrolysis of (S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate to N-formimidoyl-L-glutamate. In bacteria, ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    95943331..95968720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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