CRNKL1
entrez
51340
canonical
uniprot
Q9BZJ0
canonical
ensembl
ENSG00000101343
resolver
ensp
ENSP00000366544
resolver
ensp
ENSP00000366557
resolver
ensp
ENSP00000440733
resolver
enst
ENST00000377327
resolver
genesymbol
CRNKL1
resolver
genesymbol_syn
CRN
resolver
hgnc
HGNC:15762
resolver
uniprot
A8K9T4
resolver
uniprot
Q5JY64
resolver
uniprot
Q5JY65
resolver
uniprot
Q8WYI5
resolver
uniprot
Q9BZI9
resolver
uniprot
Q9BZJ1
resolver
uniprot
Q9BZJ2
resolver
uniprot
Q9GZW7
resolver
uniprot
Q9H8F8
resolver
uniprot
Q9NQH5
resolver
uniprot
Q9NYD8
resolver
uniprot_entry
CRNL1_HUMAN
resolver
uniprot_entry
Q5JY65_HUMAN
resolver
uniprot_sec
A8K9T4
resolver
uniprot_sec
Q5JY64
resolver
uniprot_sec
Q8WYI5
resolver
uniprot_sec
Q9BZI9
resolver
uniprot_sec
Q9BZJ1
resolver
uniprot_sec
Q9BZJ2
resolver
uniprot_sec
Q9GZW7
resolver
uniprot_sec
Q9H8F8
resolver
uniprot_sec
Q9NQH5
resolver
uniprot_sec
Q9NYD8
resolver
amino_acid_sequence
MTATVENLTFQKDTLGNAVDKNTSRLELRSYSLAGRHGSTEPLVLAWSSQFRRLTWGCALDALHRSPCVAASQHGVTHLIRSSRTPHSTRCRKEDAQPGHHGNGAASVTAQARGQRSVLQVPLPVPRSCLFSESFVVSVSSQSRFLASVPGTGVQRSTAADMAASTAAGKQRIPKVAKVKNKAPAEVQITAEQLLREAKERELELLPPPPQQKITDEEELNDYKLRKRKTFEDNIRKNRTVISNWIKYAQWEESLKEIQRARSIYERALDVDYRNITLWLKYAEMEMKNRQVNHARNIWDRAITTLPRVNQFWYKYTYMEEMLGNVAGARQVFERWMEWQPEEQAWHSYINFELRYKEVDRARTIYERFVLVHPDVKNWIKYARFEEKHAYFAHARKVYERAVEFFGDEHMDEHLYVAFAKFEENQKEFERVRVIYKYALDRISKQDAQELFKNYTIFEKKFGDRRGIEDIIVSKRRFQYEEEVKANPHNYDAWFDYLRLVESDAEAEAVREVYERAIANVPPIQEKRHWKRYIYLWINYALYEELEAKDPERTRQVYQASLELIPHKKFTFAKMWILYAQFEIRQKNLSLARRALGTSIGKCPKNKLFKVYIELELQLREFDRCRKLYEKFLEFGPENCTSWIKFAELETILGDIDRARAIYELAISQPRLDMPEVLWKSYIDFEIEQEETERTRNLYRRLLQRTQHVKVWISFAQFELSSGKEGSLTKCRQIYEEANKTMRNCEEKEERLMLLESWRSFEEEFGTASDKERVDKLMPEKVKKRRKVQTDDGSDAGWEEYFDYIFPEDAANQPNLKLLAMAKLWKKQQQEKEDAEHHPDEDVDESES
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia (MGCH) [MIM:621436]: 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. MGCH is an autosomal dominant form characterized by severe to profound global developmental delay with inability to sit or walk independently, almost no cognitive development, poor visual fixation, and absent speech. Brain imaging shows a simplified gyral pattern, lissencephaly, partial or complete agenesis of the corpus callosum, and cerebellar hypoplasia, sometimes involving the pons or brainstem. Most patients have early-onset seizures. Death in childhood may occur. {ECO:0000269|PubMed:40857589}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in pre-mRNA splicing process (PubMed:11991638, PubMed:12084575, PubMed:28076346, PubMed:28502770). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12084575, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000305|PubMed:33509932}.
uniprot
proteins
mass_dalton
100452
uniprot
proteins
protein_family
Crooked-neck family
uniprot
proteins
pubmed
11342225
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
12084575
uniprot
proteins
pubmed
12801913
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15189447
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28076346
uniprot
proteins
pubmed
28502770
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
40857589
uniprot
proteins
sequence_length
848
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12801913, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}. Nucleus speckle {ECO:0000269|PubMed:12084575}. Note=Colocalizes with core spliceosomal snRNP proteins (PubMed:12084575). {ECO:0000269|PubMed:12084575}.
uniprot
proteins