HOGA1
entrez
112817
canonical
uniprot
Q86XE5
canonical
ensembl
ENSG00000241935
resolver
ensp
ENSP00000359680
resolver
ensp
ENSP00000359681
resolver
genesymbol
HOGA1
resolver
genesymbol_syn
C10orf65
resolver
genesymbol_syn
DHDPSL
resolver
hgnc
HGNC:25155
resolver
uniprot
A8K075
resolver
uniprot
Q5T680
resolver
uniprot
Q5T684
resolver
uniprot
Q711P0
resolver
uniprot
Q8N9F2
resolver
uniprot
Q96EV5
resolver
uniprot_entry
HOGA1_HUMAN
resolver
uniprot_sec
A8K075
resolver
uniprot_sec
Q5T680
resolver
uniprot_sec
Q5T684
resolver
uniprot_sec
Q711P0
resolver
uniprot_sec
Q8N9F2
resolver
uniprot_sec
Q96EV5
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by divalent cations. {ECO:0000250}.
uniprot
proteins
amino_acid_sequence
MLGPQVWSSVRQGLSRSLSRNVGVWASGEGKKVDIAGIYPPVTTPFTATAEVDYGKLEENLHKLGTFPFRGFVVQGSNGEFPFLTSSERLEVVSRVRQAMPKNRLLLAGSGCESTQATVEMTVSMAQVGADAAMVVTPCYYRGRMSSAALIHHYTKVADLSPIPVVLYSVPANTGLDLPVDAVVTLSQHPNIVGMKDSGGDVTRIGLIVHKTRKQDFQVLAGSAGFLMASYALGAVGGVCALANVLGAQVCQLERLCCTGQWEDAQKLQHRLIEPNAAVTRRFGIPGLKKIMDWFGYYGGPCRAPLQELSPAEEEALRMDFTSNGWL
uniprot
proteins
disease_involvement
DISEASE: Hyperoxaluria primary 3 (HP3) [MIM:613616]: A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection. {ECO:0000269|PubMed:20797690}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.1.3.16
uniprot
proteins
function
FUNCTION: Catalyzes the final step in the metabolic pathway of hydroxyproline. {ECO:0000269|PubMed:20797690, ECO:0000269|PubMed:21998747}.
uniprot
proteins
mass_dalton
35249
uniprot
proteins
mutagenesis
MUTAGEN 77; /note="S->A: 2-fold decrease in kcat and a nearly 8-fold increase in KM."; /evidence="ECO:0000269|PubMed:21998747"; MUTAGEN 77; /note="S->T: Significant loss of activity."; /evidence="ECO:0000269|PubMed:21998747"; MUTAGEN 78; /note="N->A: 6-fold increase in KM."; /evidence="ECO:0000269|PubMed:21998747"; MUTAGEN 78; /note="N->Q: 25-fold increase in KM."; /evidence="ECO:0000269|PubMed:21998747"; MUTAGEN 140; /note="Y->F: No change in activity."; /evidence="ECO:0000269|PubMed:21998747"; MUTAGEN 168; /note="Y->F: No enzymatic activity."; /evidence="ECO:0000269|PubMed:21998747"; MUTAGEN 196; /note="K->A: No enzymatic activity."; /evidence="ECO:0000269|PubMed:21998747"; MUTAGEN 198; /note="S->A: 2.5-fold decrease in kcat and 4.2 fold increase in KM."; /evidence="ECO:0000269|PubMed:21998747"; MUTAGEN 198; /note="S->T: 7-fold increase in KM."; /evidence="ECO:0000269|PubMed:21998747
uniprot
proteins
protein_family
DapA family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20797690
uniprot
proteins
pubmed
21998747
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
327
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q0P5I5}.
uniprot
proteins