• Gene id: 144193

Gene Summary

• Gene Symbol: AMDHD1   Gene   UCSC   Ensembl
• Aliases: HMFT1272
• Gene name: amidohydrolase domain containing 1
• Alternate names: probable imidazolonepropionase, amidohydrolase domain-containing protein 1,
• Gene location: 12q23.1 (27147105: 27147561)     Exons: 1     NC_000006.12

Protein Summary

• Protein general information: Q96NU7  
  • Name: Probable imidazolonepropionase (EC 3.5.2.7) (Amidohydrolase domain containing protein 1)
  • Length: 426  
  • Mass: 46743
• Sequence:

  MASGHSLLLENAQQVVLVCARGERFLARDALRSLAVLEGASLVVGKDGFIKAIGPADVIQRQFSGETFEEIIDCS
  GKCILPGLVDAHTHPVWAGERVHEFAMKLAGATYMEIHQAGGGIHFTVERTRQATEEELFRSLQQRLQCMMRAGT
  TLVECKSGYGLDLETELKMLRVIERARRELDIGISATYCGAHSVPKGKTATEAADDIINNHLPKLKELGRNGEIH
  VDNIDVFCEKGVFDLDSTRRILQRGKDIGLQINFHGDELHPMKAAELGAELGAQAISHLEEVSDEGIVAMATARC
  SAILLPTTAYMLRLKQPRARKMLDEGVIVALGSDFNPNAYCFSMPMVMHLACVNMRMSMPEALAAATINAAYALG
  KSHTHGSLEVGKQGDLIIINSSRWEHLIYQFGGHHELIEYVIAKGKLIYKT

• Structural information:
  • Interpro: IPR006680  IPR005920  IPR011059  IPR032466  
  • CDD: cd01296
  • STRING: ENSP00000266736
• Other Databases: GeneCards:  AMDHD1  Malacards:  AMDHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006548	histidine catabolic process	IBA	biological process
GO:0050480	imidazolonepropionase activity	IBA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IEA	molecular function
GO:0016812	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0019556	histidine catabolic process to glutamate and formamide	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006547	histidine metabolic process	IEA	biological process
GO:0050480	imidazolonepropionase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006548	histidine catabolic process	TAS	biological process
GO:0016812	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	TAS	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0019557	histidine catabolic process to glutamate and formate	IEA	biological process
GO:0019556	histidine catabolic process to glutamate and formamide	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray