CGNL1
entrez
84952
canonical
uniprot
Q0VF96
canonical
ensembl
ENSG00000128849
resolver
ensp
ENSP00000281282
resolver
ensp
ENSP00000530635
resolver
ensp
ENSP00000530636
resolver
ensp
ENSP00000530637
resolver
ensp
ENSP00000530639
resolver
ensp
ENSP00000530641
resolver
ensp
ENSP00000625818
resolver
genesymbol
CGNL1
resolver
genesymbol_syn
JACOP
resolver
genesymbol_syn
KIAA1749
resolver
hgnc
HGNC:25931
resolver
uniprot
Q05BZ4
resolver
uniprot
Q52LR0
resolver
uniprot
Q695C7
resolver
uniprot
Q7Z2L3
resolver
uniprot
Q96JV2
resolver
uniprot
Q96MN6
resolver
uniprot
Q9C0B4
resolver
uniprot_entry
CGNL1_HUMAN
resolver
uniprot_sec
Q05BZ4
resolver
uniprot_sec
Q52LR0
resolver
uniprot_sec
Q695C7
resolver
uniprot_sec
Q7Z2L3
resolver
uniprot_sec
Q96JV2
resolver
uniprot_sec
Q96MN6
resolver
uniprot_sec
Q9C0B4
resolver
amino_acid_sequence
MELYFGEYQHVQQEYGVHLRLASDDTQKSRSSQNSKAGSYGVSIRVQGIDGHPYIVLNNTERCLAGTSFSENGPPFPPPVINNLPLHSSNGSVPKENSEELQLPENPYAQPSPIRNLKQPLLHEGKNGVLDRKDGSVKPSHLLNFQRHPELLQPYDPEKNELNLQNHQPSESNWLKTLTEEGINNKKPWTCFPKPSNSQPTSPSLEDPAKSGVTAIRLCSSVVIEDPKKQTSVCVNVQSCTKERVGEEALFTSGRPLTAHSPHAHPETKKTRPDVLPFRRQDSAGPVLDGARSRRSSSSSTTPTSANSLYRFLLDDQECAIHADNVNRHENRRYIPFLPGTGRDIDTGSIPGVDQLIEKFDQKPGLQRRGRSGKRNRINTDDRKRSRSVDSAFPFGLQGNSEYLIEFSRNLGKSSEHLLRPSQVCPQRPLSQERRGKQSVGRTFAKLQGAAHGASCAHSRPPQPNIDGKVLETEGSQESTVIRAPSLGAQSKKEEEVKTATATLMLQNRATATSPDSGAKKISVKTFPSASNTQATPDLLKGQQELTQQTNEETAKQILYNYLKEGSTDNDDATKRKVNLVFEKIQTLKSRAAGSAQGNNQACNSTSEVKDLLEQKSKLTIEVAELQRQLQLEVKNQQNIKEERERMRANLEELRSQHNEKVEENSTLQQRLEESEGELRKNLEELFQVKMEREQHQTEIRDLQDQLSEMHDELDSAKRSEDREKGALIEELLQAKQDLQDLLIAKEEQEDLLRKRERELTALKGALKEEVSSHDQEMDKLKEQYDAELQALRESVEEATKNVEVLASRSNTSEQDQAGTEMRVKLLQEENEKLQGRSEELERRVAQLQRQIEDLKGDEAKAKETLKKYEGEIRQLEEALVHARKEEKEAVSARRALENELEAAQGNLSQTTQEQKQLSEKLKEESEQKEQLRRLKNEMENERWHLGKTIEKLQKEMADIVEASRTSTLELQNQLDEYKEKNRRELAEMQRQLKEKTLEAEKSRLTAMKMQDEMRLMEEELRDYQRAQDEALTKRQLLEQTLKDLEYELEAKSHLKDDRSRLVKQMEDKVSQLEMELEEERNNSDLLSERISRSREQMEQLRNELLQERAARQDLECDKISLERQNKDLKSRIIHLEGSYRSSKEGLVVQMEARIAELEDRLESEERDRANLQLSNRRLERKVKELVMQVDDEHLSLTDQKDQLSLRLKAMKRQVEEAEEEIDRLESSKKKLQRELEEQMDMNEHLQGQLNSMKKDLRLKKLPSKVLDDMDDDDDLSTDGGSLYEAPVSYTFSKDSTVASQI
uniprot
proteins
disease_involvement
DISEASE: Aromatase excess syndrome (AEXS) [MIM:139300]: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. {ECO:0000269|PubMed:12736278}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration inv(15)(q21.2;q21.3) has been found in patients with aromatase excess syndrome. The inversion moves the promoter of the CGNL1 gene into a 5-prime position in relation to the aromatase coding region.
uniprot
proteins
function
FUNCTION: May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons. {ECO:0000269|PubMed:22891260}.
uniprot
proteins
mass_dalton
149079
uniprot
proteins
protein_family
Cingulin family
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
12736278
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22891260
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
1302
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250|UniProtKB:Q6AW69}. Note=Localizes to the apical junction complex composed of tight and adherens junctions (PubMed:22891260). In the liver and kidney, it is also found along non-junctional actin filament bundles in addition to the apical junction (By similarity). {ECO:0000250|UniProtKB:Q6AW69, ECO:0000269|PubMed:22891260}.
uniprot
proteins