GLDN
entrez
342035
canonical
uniprot
Q6ZMI3
canonical
ensembl
ENSG00000186417
resolver
ensp
ENSP00000335196
resolver
ensp
ENSP00000379681
resolver
ensp
ENSP00000527882
resolver
genesymbol
GLDN
resolver
genesymbol_syn
COLM
resolver
hgnc
HGNC:29514
resolver
uniprot
Q14DE1
resolver
uniprot
Q6UXZ7
resolver
uniprot
Q7Z359
resolver
uniprot_entry
GLDN_HUMAN
resolver
uniprot_entry
Q14DE1_HUMAN
resolver
uniprot_sec
Q6UXZ7
resolver
uniprot_sec
Q7Z359
resolver
amino_acid_sequence
MARGAEGGRGDAGWGLRGALAAVALLSALNAAGTVFALCQWRGLSSALRALEAQRGREQREDSALRSFLAELSRAPRGASAPPQDPASSARNKRSHSGEPAPHIRAESHDMLMMMTYSMVPIRVMVDLCNSTKGICLTGPSGPPGPPGAGGLPGHNGLDGQPGPQGPKGEKGANGKRGKMGIPGAAGNPGERGEKGDHGELGLQGNEGPPGQKGEKGDKGDVSNDVLLAGAKGDQGPPGPPGPPGPPGPPGPPGSRRAKGPRQPSMFNGQCPGETCAIPNDDTLVGKADEKASEHHSPQAESMITSIGNPVQVLKVTETFGTWIRESANKSDDRIWVTEHFSGIMVKEFKDQPSLLNGSYTFIHLPYYFHGCGHVVYNNSLYYHKGGSNTLVRFEFGQETSQTLKLENALYFDRKYLFANSKTYFNLAVDEKGLWIIYASSVDGSSILVAQLDERTFSVVQHVNTTYPKSKAGNAFIARGILYVTDTKDMRVTFAFDLLGGKQINANFDLRTSQSVLAMLAYNMRDQHLYSWEDGHLMLYPVQFLSTTLNQ
uniprot
proteins
disease_involvement
DISEASE: Lethal congenital contracture syndrome 11 (LCCS11) [MIM:617194]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269|PubMed:27616481}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with NRCAM, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier. {ECO:0000250|UniProtKB:Q8BMF8}.
uniprot
proteins
mass_dalton
58957
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q8BMF8}.; PTM: Proteolytic processing by a furin-like protease causes shedding of the ectodomain. Further cleavage by BMP1 releases the olfactomedin-like domain. {ECO:0000250|UniProtKB:Q8BMF8}.
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16039564
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
27616481
uniprot
proteins
sequence_length
551
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80WL1, ECO:0000269|PubMed:27616481}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q80WL1}. Cell projection, axon {ECO:0000250|UniProtKB:Q80WL1}. Note=Detected at the nodes of Ranvier. Detected at immature heminodes. {ECO:0000250|UniProtKB:Q80WL1}.; SUBCELLULAR LOCATION: [Gliomedin shedded ectodomain]: Secreted {ECO:0000250|UniProtKB:Q80WL1}. Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:Q80WL1}. Note=Proteolytic processing gives rise to a soluble extracellular domain that is secreted. The gliomedin shedded ectodomain localizes to the nodes of Ranvier. {ECO:0000250|UniProtKB:Q80WL1}.
uniprot
proteins
transmembrane_region
TRANSMEM 18..39; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins