IL1RAPL1
entrez
11141
canonical
uniprot
Q9NZN1
canonical
ensembl
ENSG00000169306
resolver
ensp
ENSP00000368278
resolver
enst
ENST00000378993
resolver
genesymbol
IL1RAPL1
resolver
genesymbol_syn
OPHN4
resolver
hgnc
HGNC:5996
resolver
uniprot
A0AVG4
resolver
uniprot
Q9UJ53
resolver
uniprot
X5DNQ7
resolver
uniprot_entry
IRPL1_HUMAN
resolver
uniprot_entry
X5DNQ7_HUMAN
resolver
uniprot_sec
A0AVG4
resolver
uniprot_sec
Q9UJ53
resolver
amino_acid_sequence
MKAPIPHLILLYATFTQSLKVVTKRGSADGCTDWSIDIKKYQVLVGEPVRIKCALFYGYIRTNYSLAQSAGLSLMWYKSSGPGDFEEPIAFDGSRMSKEEDSIWFRPTLLQDSGLYACVIRNSTYCMKVSISLTVGENDTGLCYNSKMKYFEKAELSKSKEISCRDIEDFLLPTREPEILWYKECRTKTWRPSIVFKRDTLLIREVREDDIGNYTCELKYGGFVVRRTTELTVTAPLTDKPPKLLYPMESKLTIQETQLGDSANLTCRAFFGYSGDVSPLIYWMKGEKFIEDLDENRVWESDIRILKEHLGEQEVSISLIVDSVEEGDLGNYSCYVENGNGRRHASVLLHKRELMYTVELAGGLGAILLLLVCLVTIYKCYKIEIMLFYRNHFGAEELDGDNKDYDAYLSYTKVDPDQWNQETGEEERFALEILPDMLEKHYGYKLFIPDRDLIPTGTYIEDVARCVDQSKRLIIVMTPNYVVRRGWSIFELETRLRNMLVTGEIKVILIECSELRGIMNYQEVEALKHTIKLLTVIKWHGPKCNKLNSKFWKRLQYEMPFKRIEPITHEQALDVSEQGPFGELQTVSAISMAAATSTALATAHPDLRSTFHNTYHSQMRQKHYYRSYEYDVPPTGTLPLTSIGNQHTYCNIPMTLINGQRPQTKSSREQNPDEAHTNSAILPLLPRETSISSVIW
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked 21 (XLID21) [MIM:300143]: 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 intellectual disability presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:10757639, ECO:0000269|PubMed:16470793}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.2.6
uniprot
proteins
function
FUNCTION: May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel (PubMed:12783849). May activate the MAP kinase JNK (PubMed:15123616). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity). {ECO:0000250|UniProtKB:P59823, ECO:0000250|UniProtKB:P59824, ECO:0000269|PubMed:12783849, ECO:0000269|PubMed:15123616}.
uniprot
proteins
mass_dalton
79969
uniprot
proteins
protein_family
Interleukin-1 receptor family
uniprot
proteins
pubmed
10471494
uniprot
proteins
pubmed
10757639
uniprot
proteins
pubmed
10882729
uniprot
proteins
pubmed
12777533
uniprot
proteins
pubmed
12783849
uniprot
proteins
pubmed
15123616
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16470793
uniprot
proteins
pubmed
18801879
uniprot
proteins
sequence_length
696
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12783849}; Single-pass type I membrane protein {ECO:0000269|PubMed:12783849}. Cytoplasm {ECO:0000269|PubMed:12783849}. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Note=May localize to the cell body and growth cones of dendrite-like processes. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 358..378; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins