NUP37
entrez
79023
canonical
uniprot
Q8NFH4
canonical
ensembl
ENSG00000075188
resolver
ensp
ENSP00000251074
resolver
ensp
ENSP00000448054
resolver
enst
ENST00000251074
resolver
enst
ENST00000552283
resolver
genesymbol
NUP37
resolver
hgnc
HGNC:29929
resolver
uniprot
B4DKV8
resolver
uniprot
Q9H644
resolver
uniprot_entry
B4DKV8_HUMAN
resolver
uniprot_entry
NUP37_HUMAN
resolver
uniprot_sec
Q9H644
resolver
amino_acid_sequence
MKQDASRNAAYTVDCEDYVHVVEFNPFENGDSGNLIAYGGNNYVVIGTCTFQEEEADVEGIQYKTLRTFHHGVRVDGIAWSPETRLDSLPPVIKFCTSAADMKIRLFTSDLQDKNEYKVLEGHTDFINGLVFDPKEGQEIASVSDDHTCRIWNLEGVQTAHFVLHSPGMSVCWHPEETFKLMVAEKNGTIRFYDLLAQQAILSLESEQVPLMSAHWCLKNTFKVGAVAGNDWLIWDITRSSYPQNKRPVHMDRACLFRWSTISENLFATTGYPGKMASQFQIHHLGHPQPILMGSVAVGSGLSWHRTLPLCVIGGDHKLLFWVTEV
uniprot
proteins
disease_involvement
DISEASE: Microcephaly 24, primary, autosomal recessive (MCPH24) [MIM:618179]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly. {ECO:0000269|PubMed:30179222}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. {ECO:0000269|PubMed:17363900, ECO:0000269|PubMed:30179222}.
uniprot
proteins
mass_dalton
36708
uniprot
proteins
pubmed
12196509
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15146057
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17360435
uniprot
proteins
pubmed
17363900
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
30179222
uniprot
proteins
sequence_length
326
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore. Nucleus, nuclear pore complex.
uniprot
proteins