HYLS1
entrez
219844
canonical
uniprot
Q96M11
canonical
ensembl
ENSG00000198331
resolver
ensp
ENSP00000348815
resolver
ensp
ENSP00000414884
resolver
ensp
ENSP00000436833
resolver
ensp
ENSP00000576747
resolver
ensp
ENSP00000576748
resolver
ensp
ENSP00000607479
resolver
enst
ENST00000356438
resolver
enst
ENST00000425380
resolver
enst
ENST00000526028
resolver
enst
ENST00000906688
resolver
enst
ENST00000906689
resolver
enst
ENST00000937420
resolver
genesymbol
HYLS1
resolver
genesymbol_syn
HLS
resolver
hgnc
HGNC:26558
resolver
uniprot
B3KXI8
resolver
uniprot
Q96BX9
resolver
uniprot_entry
HYLS1_HUMAN
resolver
uniprot_sec
B3KXI8
resolver
uniprot_sec
Q96BX9
resolver
amino_acid_sequence
MEELLPDGQIWANMDPEERMLAAATAFTHICAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSETVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEYQGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWGVREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS
uniprot
proteins
disease_involvement
DISEASE: Hydrolethalus syndrome 1 (HLS1) [MIM:236680]: A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. {ECO:0000269|PubMed:15843405}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in HYLS1 may be involved in ciliopathies other than hydrolethalus syndrome 1. A homozygous mutation resulting in a C-terminal extension of 11 residues has been found in patients diagnosed as Joubert syndrome, a ciliopathy presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269|PubMed:26830932}.
uniprot
proteins
function
FUNCTION: Plays a role in ciliogenesis. {ECO:0000250|UniProtKB:A0A1L8ER70, ECO:0000250|UniProtKB:Q95X94}.
uniprot
proteins
mass_dalton
34359
uniprot
proteins
protein_family
HYLS1 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15843405
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26830932
uniprot
proteins
sequence_length
299
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15843405}. Cell projection, cilium {ECO:0000250|UniProtKB:A0A1L8ER70, ECO:0000250|UniProtKB:Q95X94}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:A0A1L8ER70, ECO:0000250|UniProtKB:Q95X94}.
uniprot
proteins