FRMPD4
entrez
9758
canonical
uniprot
Q14CM0
canonical
ensembl
ENSG00000169933
resolver
ensp
ENSP00000370057
resolver
ensp
ENSP00000482182
resolver
ensp
ENSP00000492353
resolver
ensp
ENSP00000499481
resolver
ensp
ENSP00000499962
resolver
ensp
ENSP00000502607
resolver
enst
ENST00000380682
resolver
enst
ENST00000616992
resolver
enst
ENST00000672010
resolver
enst
ENST00000675598
resolver
genesymbol
FRMPD4
resolver
genesymbol_syn
KIAA0316
resolver
genesymbol_syn
PDZD10
resolver
genesymbol_syn
PDZK10
resolver
hgnc
HGNC:29007
resolver
uniprot
A0A087WYX8
resolver
uniprot
A0A5F9ZH12
resolver
uniprot
A0A6Q8PH73
resolver
uniprot
A8K0X9
resolver
uniprot
B7ZLE1
resolver
uniprot
O15032
resolver
uniprot_entry
A0A087WYX8_HUMAN
resolver
uniprot_entry
A0A5F9ZH12_HUMAN
resolver
uniprot_entry
A0A6Q8PH73_HUMAN
resolver
uniprot_entry
B7ZLE1_HUMAN
resolver
uniprot_entry
FRPD4_HUMAN
resolver
uniprot_sec
A8K0X9
resolver
uniprot_sec
O15032
resolver
amino_acid_sequence
MDVFSFVKIAKLSSHRTKSSGWPPPSGTWGLSQVPPYGWEMTANRDGRDYFINHMTQAIPFDDPRLESCQIIPPAPRKVEMRRDPVLGFGFVAGSEKPVVVRSVTPGGPSEGKLIPGDQIVMINDEPVSAAPRERVIDLVRSCKESILLTVIQPYPSPKSAFISAAKKARLKSNPVKVRFSEEVIINGQVSETVKDNSLLFMPNVLKVYLENGQTKSFRFDCSTSIKDVILTLQEKLSIKGIEHFSLMLEQRTEGAGTKLLLLHEQETLTQVTQRPSSHKMRCLFRISFVPKDPIDLLRRDPVAFEYLYVQSCNDVVQERFGPELKYDIALRLAALQMYIATVTTKQTQKISLKYIEKEWGLETFLPSAVLQSMKEKNIKKALSHLVKANQNLVPPGKKLSALQAKVHYLKFLSDLRLYGGRVFKATLVQAEKRSEVTLLVGPRYGISHVINTKTNLVALLADFSHVNRIEMFSEEESLVRVELHVLDVKPITLLMESSDAMNLACLTAGYYRLLVDSRRSIFNMANKKNTATQETGPENKGKHNLLGPDWNCIPQMTTFIGEGEQEAQITYIDSKQKTVEITDSTMCPKEHRHLYIDNAYSSDGLNQQLSQPGEAPCEADYRSLAQRSLLTLSGPETLKKAQESPRGAKVSFIFGDFALDDGISPPTLGYETLLDEGPEMLEKQRNLYIGSANDMKGLDLTPEAEGIQFVENSVYANIGDVKSFQAAEGIEEPLLHDICYAENTDDAEDEDEVSCEEDLVVGEMNQPAILNLSGSSDDIIDLTSLPPPEGDDNEDDFLLRSLNMAIAAPPPGFRDSSDEEDSQSQAASFPEDKEKGSSLQNDEIPVSLIDAVPTSAEGKCEKGLDNAVVSTLGALEALSVSEEQQTSDNSGVAILRAYSPESSSDSGNETNSSEMTESSELATAQKQSENLSRMFLATHEGYHPLAEEQTEFPASKTPAGGLPPKSSHALAARPATDLPPKVVPSKQLLHSDHMEMEPETMETKSVTDYFSKLHMGSVAYSCTSKRKSKLADGEGKAPPNGNTTGKKQQGTKTAEMEEEASGKFGTVSSRDSQHLSTFNLERTAFRKDSQRWYVATEGGMAEKSGLEAATGKTFPRASGLGAREAEGKEEGAPDGETSDGSGLGQGDRFLTDVTCASSAKDLDNPEDADSSTCDHPSKLPEADESVARLCDYHLAKRMSSLQSEGHFSLQSSQGSSVDAGCGTGSSGSACATPVESPLCPSLGKHLIPDASGKGVNYIPSEERAPGLPNHGATFKELHPQTEGMCPRMTVPALHTAINTEPLFGTLRDGCHRLPKIKETTV
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked 104 (XLID104) [MIM:300983]: A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:25644381}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate. {ECO:0000269|PubMed:19118189}.
uniprot
proteins
mass_dalton
144379
uniprot
proteins
mutagenesis
MUTAGEN 102; /note="R->A: Abolishes the interaction with ARHGEF7. Mutant overexpression in cultured neurons does not induce a significant increase in spine density contrary to wild type."; /evidence="ECO:0000269|PubMed:19118189"; MUTAGEN 990; /note="L->A: Nearly abolishes interaction with GPSM2; when associated with 1010-A-A-1011."; /evidence="ECO:0000269|PubMed:25664792"; MUTAGEN 1010..1011; /note="YF->AA: Nearly abolishes interaction with GPSM2; when associated with A-990."; /evidence="ECO:0000269|PubMed:25664792"; MUTAGEN 1319..1322; /note="Missing: Abolishes the interaction with DLG1, DLG2, DLG3 and DLG4/PSD95. Reduces protein localization to dendritic spines."; /evidence="ECO:0000269|PubMed:19118189"; MUTAGEN 1320; /note="T->D: Abolishes the interaction with DLG4/PSD95. Reduces protein localization to dendritic spines."; /evidence="ECO:0000269|PubMed:19118189
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19118189
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
25644381
uniprot
proteins
pubmed
25664792
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
1322
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, dendritic spine {ECO:0000269|PubMed:19118189}.
uniprot
proteins