HID1
entrez
283987
canonical
uniprot
Q8IV36
canonical
ensembl
ENSG00000167861
resolver
ensp
ENSP00000413520
resolver
ensp
ENSP00000549394
resolver
ensp
ENSP00000723115
resolver
genesymbol
HID1
resolver
genesymbol_syn
C17orf28
resolver
genesymbol_syn
DMC1
resolver
hgnc
HGNC:15736
resolver
uniprot
Q8N5L6
resolver
uniprot
Q8TE83
resolver
uniprot
Q9NT34
resolver
uniprot_entry
HID1_HUMAN
resolver
uniprot_sec
Q8N5L6
resolver
uniprot_sec
Q8TE83
resolver
uniprot_sec
Q9NT34
resolver
amino_acid_sequence
MGSTDSKLNFRKAVIQLTTKTQPVEATDDAFWDQFWADTATSVQDVFALVPAAEIRAVREESPSNLATLCYKAVEKLVQGAESGCHSEKEKQIVLNCSRLLTRVLPYIFEDPDWRGFFWSTVPGAGRGGQGEEDDEHARPLAESLLLAIADLLFCPDFTVQSHRRSTVDSAEDVHSLDSCEYIWEAGVGFAHSPQPNYIHDMNRMELLKLLLTCFSEAMYLPPAPESGSTNPWVQFFCSTENRHALPLFTSLLNTVCAYDPVGYGIPYNHLLFSDYREPLVEEAAQVLIVTLDHDSASSASPTVDGTTTGTAMDDADPPGPENLFVNYLSRIHREEDFQFILKGIARLLSNPLLQTYLPNSTKKIQFHQELLVLFWKLCDFNKKFLFFVLKSSDVLDILVPILFFLNDARADQSRVGLMHIGVFILLLLSGERNFGVRLNKPYSIRVPMDIPVFTGTHADLLIVVFHKIITSGHQRLQPLFDCLLTIVVNVSPYLKSLSMVTANKLLHLLEAFSTTWFLFSAAQNHHLVFFLLEVFNNIIQYQFDGNSNLVYAIIRKRSIFHQLANLPTDPPTIHKALQRRRRTPEPLSRTGSQEGTSMEGSRPAAPAEPGTLKTSLVATPGIDKLTEKSQVSEDGTLRSLEPEPQQSLEDGSPAKGEPSQAWREQRRPSTSSASGQWSPTPEWVLSWKSKLPLQTIMRLLQVLVPQVEKICIDKGLTDESEILRFLQHGTLVGLLPVPHPILIRKYQANSGTAMWFRTYMWGVIYLRNVDPPVWYDTDVKLFEIQRV
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 105 with hypopituitarism (DEE105) [MIM:619983]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE105 is an autosomal recessive form characterized by onset of seizures in the first weeks or months of life. Affected individuals have hypopituitarism in association with profoundly impaired development with almost no acquisition of skills, brain atrophy, thin corpus callosum, and small pituitary gland. {ECO:0000269|PubMed:33999436}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the biogenesis of large dense core vesicles (LDCVs) at the trans-Golgi network; necessary for the proper sorting of cargo into LDCVs and is required for proper regulated exocytosis (also known as regulated secretory pathway). {ECO:0000269|PubMed:37751424}.
uniprot
proteins
mass_dalton
88745
uniprot
proteins
mutagenesis
MUTAGEN 774..788; /note="VWYDTDVKLFEIQRV->CLVRHRREAV: Does not rescue secretory defects when expressed in HID1 knockout cells. The mutant does not affect HID1 localization to the trans-Golgi network."; /evidence="ECO:0000269|PubMed:37751424
uniprot
proteins
protein_family
Hid-1 family
uniprot
proteins
pubmed
11281419
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21337012
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
25043870
uniprot
proteins
pubmed
33999436
uniprot
proteins
pubmed
37751424
uniprot
proteins
sequence_length
788
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21337012}. Golgi apparatus, trans-Golgi network membrane {ECO:0000305|PubMed:21337012}; Lipid-anchor {ECO:0000269|PubMed:21337012}. Note=Shuttles between the cytosol and the Golgi apparatus.
uniprot
proteins