MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.1.2.5	Transferases; Transferring one-carbon groups; Hydroxymethyl-, formyl- and related transferases; glutamate formimidoyltransferase
4.3.1.4	Lyases; Carbon-nitrogen lyases; Ammonia-lyases; formimidoyltetrahydrofolate cyclodeaminase

GO ontology	GO term	GO description
Biological Process	GO:0007010	cytoskeleton organization
Biological Process	GO:0006760	folic acid-containing compound metabolic process
Biological Process	GO:0019556	histidine catabolic process to glutamate and formamide
Biological Process	GO:0019557	histidine catabolic process to glutamate and formate
Molecular Function	GO:0005542	folic acid binding
Molecular Function	GO:0030412	formimidoyltetrahydrofolate cyclodeaminase activity
Molecular Function	GO:0030409	glutamate formimidoyltransferase activity
Molecular Function	GO:0008017	microtubule binding
Cellular Component	GO:0005794	Golgi apparatus
Cellular Component	GO:0000139	Golgi membrane
Cellular Component	GO:0005814	centriole
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005783	endoplasmic reticulum
Cellular Component	GO:0005793	endoplasmic reticulum-Golgi intermediate compartment
Cellular Component	GO:0070062	extracellular exosome
Cellular Component	GO:0005886	plasma membrane
Cellular Component	GO:0030868	smooth endoplasmic reticulum membrane

InterPro	InterPro name
IPR004227	Formiminotransferase catalytic domain
IPR007044	Cyclodeaminase/cyclohydrolase
IPR012886	Formiminotransferase, N-terminal subdomain
IPR013802	Formiminotransferase, C-terminal subdomain
IPR022384	Formiminotransferase catalytic domain superfamily
IPR036178	Formimidoyltransferase-cyclodeaminase-like superfamily
IPR037064	Formiminotransferase, N-terminal subdomain superfamily
IPR037070	Formiminotransferase, C-terminal subdomain superfamily

Pfam	Pfam name
PF02971	Formiminotransferase domain
PF04961	Formiminotransferase-cyclodeaminase
PF07837	Formiminotransferase domain, N-terminal subdomain

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-70921	Histidine catabolism	Leaf	R-HSA-1430728	Metabolism

Location	ECO term	Pubmed
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole	ECO:0000269	PubMed:16534631
Cytoplasm, cytosol	ECO:0000250
Golgi apparatus	ECO:0000250

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000717	Autism
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001510	Growth delay
HP:0001631	Atrial septal defect
HP:0001889	Megaloblastic anemia
HP:0001903	Anemia
HP:0003355	Aminoaciduria
HP:0003612	Positive ferric chloride test
HP:0004821	Hypersegmentation of neutrophil nuclei
HP:0010864	Intellectual disability, severe
HP:0010904	Abnormal circulating histidine concentration
HP:0011342	Mild global developmental delay
HP:0012335	Abnormality of folate metabolism
HP:0012379	Abnormal circulating enzyme concentration or activity
HP:0012758	Neurodevelopmental delay
HP:0032164	Increased blood folate concentration
HP:0034742	Elevated urinary formiminoglutamic acid level
HP:0500170	Abnormal concentration of acylcarnitine in the urine

Tissue	Cell type	Expression level	Reliability
kidney	proximal tubules (cell body)	Medium	Enhanced
liver	hepatocytes	High	Enhanced
pancreas	exocrine glandular cells	Low	Enhanced
testis	Leydig cells	Low	Enhanced
testis	elongated or late spermatids	Medium	Enhanced
testis	round or early spermatids	Medium	Enhanced