ESAM
entrez
90952
canonical
uniprot
Q96AP7
canonical
ensembl
ENSG00000149564
resolver
ensp
ENSP00000278927
resolver
genesymbol
ESAM
resolver
hgnc
HGNC:17474
resolver
uniprot
B4DVN8
resolver
uniprot
Q96T50
resolver
uniprot_entry
ESAM_HUMAN
resolver
uniprot_sec
B4DVN8
resolver
uniprot_sec
Q96T50
resolver
amino_acid_sequence
MISLPGPLVTNLLRFLFLGLSALAPPSRAQLQLHLPANRLQAVEGGEVVLPAWYTLHGEVSSSQPWEVPFVMWFFKQKEKEDQVLSYINGVTTSKPGVSLVYSMPSRNLSLRLEGLQEKDSGPYSCSVNVQDKQGKSRGHSIKTLELNVLVPPAPPSCRLQGVPHVGANVTLSCQSPRSKPAVQYQWDRQLPSFQTFFAPALDVIRGSLSLTNLSSSMAGVYVCKAHNEVGTAQCNVTLEVSTGPGAAVVAGAVVGTLVGLGLLAGLVLLYHRRGKALEEPANDIKEDAIAPRTLPWPKSSDTISKNGTLSSVTSARALRPPHGPPRPGALTPTPSLSSQALPSPRLPTTDGAHPQPISPIPGGVSSSGLSRMGAVPVMVPAQSQAGSLV
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) [MIM:620371]: An autosomal recessive disease characterized by prenatal or neonatal onset of intracranial hemorrhage, ventriculomegaly and cerebral calcifications. Affected individuals have profound global developmental delay, intellectual disability, epilepsy, absent or severely delayed speech, and varying degrees of spasticity. Death in utero or in early childhood may occur. {ECO:0000269|PubMed:36996813}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Can mediate aggregation most likely through a homophilic molecular interaction. {ECO:0000250|UniProtKB:Q925F2}.
uniprot
proteins
mass_dalton
41176
uniprot
proteins
pubmed
11279107
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
36996813
uniprot
proteins
sequence_length
390
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000250|UniProtKB:Q925F2}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q925F2}. Cell membrane {ECO:0000269|PubMed:36996813}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q925F2}.
uniprot
proteins
transmembrane_region
TRANSMEM 249..269; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins