SMOC1
entrez
64093
canonical
uniprot
Q9H4F8
canonical
ensembl
ENSG00000198732
resolver
ensp
ENSP00000355110
resolver
ensp
ENSP00000370680
resolver
ensp
ENSP00000523962
resolver
ensp
ENSP00000523963
resolver
genesymbol
SMOC1
resolver
hgnc
HGNC:20318
resolver
uniprot
A8K1S3
resolver
uniprot
B2R7P5
resolver
uniprot
Q96F78
resolver
uniprot_entry
SMOC1_HUMAN
resolver
uniprot_sec
A8K1S3
resolver
uniprot_sec
B2R7P5
resolver
uniprot_sec
Q96F78
resolver
amino_acid_sequence
MLPARCARLLTPHLLLVLVQLSPARGHRTTGPRFLISDRDPQCNLHCSRTQPKPICASDGRSYESMCEYQRAKCRDPTLGVVHRGRCKDAGQSKCRLERAQALEQAKKPQEAVFVPECGEDGSFTQVQCHTYTGYCWCVTPDGKPISGSSVQNKTPVCSGSVTDKPLSQGNSGRKDDGSKPTPTMETQPVFDGDEITAPTLWIKHLVIKDSKLNNTNIRNSEKVYSCDQERQSALEEAQQNPREGIVIPECAPGGLYKPVQCHQSTGYCWCVLVDTGRPLPGTSTRYVMPSCESDARAKTTEADDPFKDRELPGCPEGKKMEFITSLLDALTTDMVQAINSAAPTGGGRFSEPDPSHTLEERVVHWYFSQLDSNSSNDINKREMKPFKRYVKKKAKPKKCARRFTDYCDLNKDKVISLPELKGCLGVSKEGRLV
uniprot
proteins
disease_involvement
DISEASE: Ophthalmoacromelic syndrome (OAS) [MIM:206920]: A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases. {ECO:0000269|PubMed:21194678, ECO:0000269|PubMed:21194680, ECO:0000269|PubMed:21750680, ECO:0000269|PubMed:23646827}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation. {ECO:0000269|PubMed:20359165, ECO:0000269|PubMed:21194678, ECO:0000269|PubMed:21194680}.
uniprot
proteins
mass_dalton
48163
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:12130637}.
uniprot
proteins
pubmed
12130637
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20359165
uniprot
proteins
pubmed
21194678
uniprot
proteins
pubmed
21194680
uniprot
proteins
pubmed
21750680
uniprot
proteins
pubmed
23646827
uniprot
proteins
sequence_length
434
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:12130637, ECO:0000269|PubMed:20359165}. Note=In or around the basement membrane.
uniprot
proteins