ENOSF1
entrez
55556
canonical
uniprot
Q7L5Y1
canonical
ensembl
ENSG00000132199
resolver
ensp
ENSP00000345974
resolver
ensp
ENSP00000373072
resolver
ensp
ENSP00000463425
resolver
ensp
ENSP00000497230
resolver
ensp
ENSP00000561936
resolver
ensp
ENSP00000561937
resolver
ensp
ENSP00000561939
resolver
ensp
ENSP00000561940
resolver
ensp
ENSP00000561946
resolver
ensp
ENSP00000561948
resolver
ensp
ENSP00000561952
resolver
ensp
ENSP00000561963
resolver
ensp
ENSP00000587919
resolver
ensp
ENSP00000660199
resolver
enst
ENST00000340116
resolver
enst
ENST00000580982
resolver
genesymbol
ENOSF1
resolver
genesymbol_syn
RTS
resolver
genesymbol_syn
TYMSAS
resolver
hgnc
HGNC:30365
resolver
uniprot
A0A3F2YNX7
resolver
uniprot
A6NMP3
resolver
uniprot
A8K9R5
resolver
uniprot
B3KSL6
resolver
uniprot
B3KXE4
resolver
uniprot
D3DUH0
resolver
uniprot
J3QL81
resolver
uniprot
Q15407
resolver
uniprot
Q15594
resolver
uniprot
Q15595
resolver
uniprot
Q6ZS08
resolver
uniprot
Q9HAS5
resolver
uniprot
Q9HAS6
resolver
uniprot_entry
A0A3F2YNX7_HUMAN
resolver
uniprot_entry
ENOF1_HUMAN
resolver
uniprot_entry
J3QL81_HUMAN
resolver
uniprot_sec
A6NMP3
resolver
uniprot_sec
A8K9R5
resolver
uniprot_sec
B3KSL6
resolver
uniprot_sec
B3KXE4
resolver
uniprot_sec
D3DUH0
resolver
uniprot_sec
Q15407
resolver
uniprot_sec
Q15594
resolver
uniprot_sec
Q15595
resolver
uniprot_sec
Q6ZS08
resolver
uniprot_sec
Q9HAS5
resolver
uniprot_sec
Q9HAS6
resolver
amino_acid_sequence
MVRGRISRLSVRDVRFPTSLGGHGADAMHTDPDYSAAYVVIETDAEDGIKGCGITFTLGKGTEVVVCAVNALAHHVLNKDLKDIVGDFRGFYRQLTSDGQLRWIGPEKGVVHLATAAVLNAVWDLWAKQEGKPVWKLLVDMDPRMLVSCIDFRYITDVLTEEDALEILQKGQIGKKEREKQMLAQGYPAYTTSCAWLGYSDDTLKQLCAQALKDGWTRFKVKVGADLQDDMRRCQIIRDMIGPEKTLMMDANQRWDVPEAVEWMSKLAKFKPLWIEEPTSPDDILGHATISKALVPLGIGIATGEQCHNRVIFKQLLQAKALQFLQIDSCRLGSVNENLSVLLMAKKFEIPVCPHAGGVGLCELVQHLIIFDYISVSASLENRVCEYVDHLHEHFKYPVMIQRASYMPPKDPGYSTEMKEESVKKHQYPDGEVWKKLLPAQEN
uniprot
proteins
disease_involvement
DISEASE: Dyskeratosis congenita, digenic (DKCD) [MIM:620040]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCD transmission pattern is consistent with digenic inheritance. {ECO:0000269|PubMed:35931051}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. A common ENOSF1 haplotype (defined by rs699517, rs2790 and rs1512643) in the presence of TYMS germline variants result in severe thymidylate synthase deficiency and disease. The pathogenic mechanism involves increased expression of ENOSF1 relative to TYMS, and post-transcriptional inhibition of TYMS translation through ENOSF1-TYMS RNA-RNA interactions. {ECO:0000269|PubMed:35931051}.
uniprot
proteins
ec_number
4.2.1.68
uniprot
proteins
function
FUNCTION: Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion (PubMed:24697329). {ECO:0000269|PubMed:24697329}.
uniprot
proteins
mass_dalton
49786
uniprot
proteins
mutagenesis
MUTAGEN 1..27; /note="Missing: Impairs protein solubility. Abolishes catalytic activity."; /evidence="ECO:0000269|PubMed:24697329
uniprot
proteins
post_translational_modification
PTM: Could be sumoylated. {ECO:0000269|PubMed:15994970}.
uniprot
proteins
protein_family
ENOSF1 subfamily
uniprot
proteins
protein_family
Mandelate racemase/muconate lactonizing enzyme family
uniprot
proteins
pubmed
12084460
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15994970
uniprot
proteins
pubmed
16162288
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24697329
uniprot
proteins
pubmed
35931051
uniprot
proteins
pubmed
8493092
uniprot
proteins
pubmed
8764108
uniprot
proteins
pubmed
8869746
uniprot
proteins
sequence_length
443
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16162288}.
uniprot
proteins