LRRC7
entrez
57554
canonical
uniprot
Q96NW7
canonical
ensembl
ENSG00000033122
resolver
ensp
ENSP00000309245
resolver
ensp
ENSP00000359997
resolver
ensp
ENSP00000498937
resolver
enst
ENST00000310961
resolver
enst
ENST00000370958
resolver
genesymbol
LRRC7
resolver
genesymbol_syn
KIAA1365
resolver
genesymbol_syn
LAP1
resolver
hgnc
HGNC:18531
resolver
uniprot
A0A075B6E9
resolver
uniprot
A0A494C1A4
resolver
uniprot
B1AKT2
resolver
uniprot
B7Z211
resolver
uniprot
Q5VXC2
resolver
uniprot
Q5VXC3
resolver
uniprot
Q68D07
resolver
uniprot
Q86VE8
resolver
uniprot
Q8WX20
resolver
uniprot
Q9P2I2
resolver
uniprot_entry
A0A075B6E9_HUMAN
resolver
uniprot_entry
B1AKT2_HUMAN
resolver
uniprot_entry
B7Z211_HUMAN
resolver
uniprot_entry
LRRC7_HUMAN
resolver
uniprot_sec
A0A494C1A4
resolver
uniprot_sec
Q5VXC2
resolver
uniprot_sec
Q5VXC3
resolver
uniprot_sec
Q68D07
resolver
uniprot_sec
Q86VE8
resolver
uniprot_sec
Q8WX20
resolver
uniprot_sec
Q9P2I2
resolver
amino_acid_sequence
MMENLIRGRNPPQYQRSPCKEVRAALRKRPEEELQCLEMTTKRKIIGRLVPCRCFRGEEEIISVLDYSHCSLQQVPKEVFNFERTLEELYLDANQIEELPKQLFNCQALRKLSIPDNDLSNLPTTIASLVNLKELDISKNGVQEFPENIKCCKCLTIIEASVNPISKLPDGFTQLLNLTQLYLNDAFLEFLPANFGRLVKLRILELRENHLKTLPKSMHKLAQLERLDLGNNEFGELPEVLDQIQNLRELWMDNNALQVLPGSIGKLKMLVYLDMSKNRIETVDMDISGCEALEDLLLSSNMLQQLPDSIGLLKKLTTLKVDDNQLTMLPNTIGNLSLLEEFDCSCNELESLPSTIGYLHSLRTLAVDENFLPELPREIGSCKNVTVMSLRSNKLEFLPEEIGQMQKLRVLNLSDNRLKNLPFSFTKLKELAALWLSDNQSKALIPLQTEAHPETKQRVLTNYMFPQQPRGDEDFQSDSDSFNPTLWEEQRQQRMTVAFEFEDKKEDDENAGKVKDLSCQAPWERGQRGITLQPARLSGDCCTPWARCDQQIQDMPVPQNDPQLAWGCISGLQQERSMCTPLPVAAQSTTLPSLSGRQVEINLKRYPTPYPEDLKNMVKSVQNLVGKPSHGVRVENSNPTANTEQTVKEKYEHKWPVAPKEITVEDSFVHPANEMRIGELHPSLAETPLYPPKLVLLGKDKKESTDESEVDKTHCLNNSVSSGTYSDYSPSQASSGSSNTRVKVGSLQTTAKDAVHNSLWGNRIAPSFPQPLDSKPLLSQREAVPPGNIPQRPDRLPMSDTFTDNWTDGSHYDNTGFVAEETTAENANSNPLLSSKSRSTSSHGRRPLIRQDRIVGVPLELEQSTHRHTPETEVPPSNPWQNWTRTPSPFEDRTAFPSKLETTPTTSPLPERKEHIKESTEIPSPFSPGVPWEYHDSNPNRSLSNVFSQIHCRPESSKGVISISKSTERLSPLMKDIKSNKFKKSQSIDEIDIGTYKVYNIPLENYASGSDHLGSHERPDKMLGPEHGMSSMSRSQSVPMLDDEMLTYGSSKGPQQQKASMTKKVYQFDQSFNPQGSVEVKAEKRIPPPFQHNPEYVQQASKNIAKDLISPRAYRGYPPMEQMFSFSQPSVNEDAVVNAQFASQGARAGFLRRADSLVSATEMAMFRRVNEPHELPPTDRYGRPPYRGGLDRQSSVTVTESQFLKRNGRYEDEHPSYQEVKAQAGSFPVKNLTQRRPLSARSYSTESYGASQTRPVSARPTMAALLEKIPSDYNLGNYGDKPSDNSDLKTRPTPVKGEESCGKMPADWRQQLLRHIEARRLDRNAAYKHNTVNLGMLPYGGISAMHAGRSMTLNLQTKSKFDHQELPLQKTPSQQSNILDNGQEDVSPSGQWNPYPLGRRDVPPDTITKKAGSHIQTLMGSQSLQHRSREQQPYEGNINKVTIQQFQSPLPIQIPSSQATRGPQPGRCLIQTKGQRSMDGYPEQFCVRIEKNPGLGFSISGGISGQGNPFKPSDKGIFVTRVQPDGPASNLLQPGDKILQANGHSFVHMEHEKAVLLLKSFQNTVDLVIQRELTV
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 77 (MRD77) [MIM:621415]: A disorder characterized by global developmental delay and mild to moderate intellectual disability. Some patients show behavioral abnormalities including autistic features and attention deficit-hyperactivity disorder. Inheritance is autosomal dominant with incomplete penetrance. {ECO:0000269|PubMed:39256359}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein that is required for correct postsynapse architecture and regulates postsynaptic plasticity through interactions with different partners (PubMed:11729199, PubMed:39256359). Through its interaction with CACNA1C, it enhances trafficking of voltage-dependent L-type calcium channels to the dendritic cell membrane and increases channel postsynaptic clustering, thereby facilitating excitatory calcium signaling (By similarity). It also serves as a scaffold that brings CAMK2A and PPP1CA into close proximity, probably facilitating rapid dephosphorylation of CAMK2A by PPP1CA and influencing CAMK2A-mediated regulation of postsynaptic plasticity (PubMed:39256359). Necessary for DISC1 and GRM5 localization to postsynaptic density complexes and for both N-methyl D-aspartate receptor-dependent and metabotropic glutamate receptor-dependent long term synaptic depression (By similarity). {ECO:0000250|UniProtKB:Q80TE7, ECO:0000269|PubMed:39256359}.
uniprot
proteins
mass_dalton
177133
uniprot
proteins
protein_family
LAP (LRR and PDZ) protein family
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
11729199
uniprot
proteins
pubmed
12525888
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
28130356
uniprot
proteins
pubmed
39256359
uniprot
proteins
sequence_length
1575
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11729199}. Postsynaptic density {ECO:0000250|UniProtKB:Q80TE7}. Cell projection, dendritic spine {ECO:0000269|PubMed:39256359}. Postsynapse {ECO:0000269|PubMed:39256359}.
uniprot
proteins