NDC1
entrez
55706
canonical
uniprot
Q9BTX1
canonical
ensembl
ENSG00000058804
resolver
ensp
ENSP00000360483
resolver
ensp
ENSP00000593589
resolver
genesymbol
NDC1
resolver
genesymbol_syn
TMEM48
resolver
hgnc
HGNC:25525
resolver
uniprot
B4DHA3
resolver
uniprot
B4DQQ5
resolver
uniprot
G3XA81
resolver
uniprot
Q8NB76
resolver
uniprot
Q9H9T6
resolver
uniprot
Q9NSG3
resolver
uniprot
Q9NSG4
resolver
uniprot
Q9NVZ7
resolver
uniprot_entry
NDC1_HUMAN
resolver
uniprot_sec
B4DHA3
resolver
uniprot_sec
B4DQQ5
resolver
uniprot_sec
G3XA81
resolver
uniprot_sec
Q8NB76
resolver
uniprot_sec
Q9H9T6
resolver
uniprot_sec
Q9NSG3
resolver
uniprot_sec
Q9NSG4
resolver
uniprot_sec
Q9NVZ7
resolver
amino_acid_sequence
MATAVSRPCAGRSRDILWRVLGWRIVASIVWSVLFLPICTTVFIIFSRIDLFHPIQWLSDSFSDLYSSYVIFYFLLLSVVIIIISIFNVEFYAVVPSIPCSRLALIGKIIHPQQLMHSFIHAAMGMVMAWCAAVITQGQYSFLVVPCTGTNSFGSPAAQTCLNEYHLFFLLTGAFMGYSYSLLYFVNNMNYLPFPIIQQYKFLRFRRSLLLLVKHSCVESLFLVRNFCILYYFLGYIPKAWISTAMNLHIDEQVHRPLDTVSGLLNLSLLYHVWLCGVFLLTTWYVSWILFKIYATEAHVFPVQPPFAEGSDECLPKVLNSNPPPIIKYLALQDLMLLSQYSPSRRQEVFSLSQPGGHPHNWTAISRECLNLLNGMTQKLILYQEAAATNGRVSSSYPVEPKKLNSPEETAFQTPKSSQMPRPSVPPLVKTSLFSSKLSTPDVVSPFGTPFGSSVMNRMAGIFDVNTCYGSPQSPQLIRRGPRLWTSASDQQMTEFSNPSPSTSISAEGKTMRQPSVIYSWIQNKREQIKNFLSKRVLIMYFFSKHPEASIQAVFSDAQMHIWALEGLSHLVAASFTEDRFGVVQTTLPAILNTLLTLQEAVDKYFKLPHASSKPPRISGSLVDTSYKTLRFAFRASLKTAIYRITTTFGEHLNAVQASAEHQKRLQQFLEFKE
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima (NEDAPA) [MIM:621328]: An autosomal recessive neurodevelopmental disorder characterized by mild developmental delay, impaired intellectual development, peripheral polyneuropathy and motor impairment, alacrima, and achalasia. Affected individuals do not have adrenal insufficiency. {ECO:0000269|PubMed:39003500}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane. {ECO:0000269|PubMed:16600873, ECO:0000269|PubMed:16702233}.
uniprot
proteins
mass_dalton
76305
uniprot
proteins
protein_family
NDC1 family
uniprot
proteins
pubmed
12958361
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16600873
uniprot
proteins
pubmed
16702233
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19782045
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
39003500
uniprot
proteins
sequence_length
674
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex. Nucleus membrane; Multi-pass membrane protein. Note=Central core structure of the nuclear pore complex.
uniprot
proteins
transmembrane_region
TRANSMEM 25..45; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 69..89; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 115..135; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 166..186; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 226..246; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 273..293; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins