IRPL1_HUMAN » Interleukin-1 receptor accessory protein-like 1

IRPL1_HUMAN » Interleukin-1 receptor accessory protein-like 1
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
IRPL1_HUMAN » Interleukin-1 receptor accessory protein-like 1 » IL-1-RAPL-1; IL-1RAPL-1; IL1RAPL-1; Oligophrenin-4;Three immunoglobulin domain-containing IL-1 receptor-related 2;TIGIRR-2; X-linked interleukin-1 receptor accessory protein-like 1;
Hydrophobic Thickness 28.8 ± 3.8 Å
Tilt Angle 0 ± 1°
ΔGtransfer -33.8 kcal/mol
ΔGfold -16.9 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 353-381 (353-381)
Pathways none
PDB 1t3g (A/B=403-561), 4m92 (B=207-222)
OPM none
Complexes none
Interactions none
Domains

AA: 251-348, PDBID: 4YFC, Subunit B, Seq Identity:94%, Immunoglobulin domain

AA: 404-579, PDBID: 1T3G, Subunit B, Seq Identity:100%, TIR domain

UniProt annotation for IRPL1_HUMAN » Interleukin-1 receptor accessory protein-like 1
FUNCTION: May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in presynaptic and postsynaptic differentiation and dendritic spine formation in neurons.

SUBUNIT: Homodimer. Interacts (calcium-independent) with NCS1. Interacts (via extracellular region) with PTPRD; this interaction is required for IL1RAPL1-mediated synapse formation.

TISSUE SPECIFICITY: Detected at low levels in heart, skeletal muscle, ovary, skin, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Detected at very low levels in tonsil, prostate, testis, small intestine, placenta, colon and fetal liver.

DISEASE: Mental retardation, X-linked 21 (MRX21) OMIM: 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 mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. mutations affecting the gene represented in this entry.

UniProt features for IRPL1_HUMAN » Interleukin-1 receptor accessory protein-like 1
SIGNAL 1 18 Potential.
CHAIN 19 696 Interleukin-1 receptor accessory protein- like 1.
DOMAIN 19 134 Ig-like C2-type 1.
DOMAIN 143 232 Ig-like C2-type 2.
DOMAIN 242 350 Ig-like C2-type 3.
DOMAIN 403 562 TIR.
REGION 549 644 Interaction with NCS1.
DISULFID 53 118 Potential.
DISULFID 164 216 Potential.
DISULFID 267 334 Potential.
Amino Acid Sequence for IRPL1_HUMAN » Interleukin-1 receptor accessory protein-like 1
MKAPIPHLIL LYATFTQSLK VVTKRGSADG CTDWSIDIKK YQVLVGEPVR IKCALFYGYI RTNYSLAQSA GLSLMWYKSS GPGDFEEPIA FDGSRMSKEE DSIWFRPTLL QDSGLYACVI RNSTYCMKVS ISLTVGENDT GLCYNSKMKY FEKAELSKSK EISCRDIEDF LLPTREPEIL WYKECRTKTW RPSIVFKRDT LLIREVREDD IGNYTCELKY GGFVVRRTTE LTVTAPLTDK PPKLLYPMES KLTIQETQLG DSANLTCRAF FGYSGDVSPL IYWMKGEKFI EDLDENRVWE SDIRILKEHL GEQEVSISLI VDSVEEGDLG NYSCYVENGN GRRHASVLLH KRELMYTVEL AGGLGAILLL LVCLVTIYKC YKIEIMLFYR NHFGAEELDG DNKDYDAYLS YTKVDPDQWN QETGEEERFA LEILPDMLEK HYGYKLFIPD RDLIPTGTYI EDVARCVDQS KRLIIVMTPN YVVRRGWSIF ELETRLRNML VTGEIKVILI ECSELRGIMN YQEVEALKHT IKLLTVIKWH GPKCNKLNSK FWKRLQYEMP FKRIEPITHE QALDVSEQGP FGELQTVSAI SMAAATSTAL ATAHPDLRST FHNTYHSQMR QKHYYRSYEY DVPPTGTLPL TSIGNQHTYC NIPMTLINGQ RPQTKSSREQ NPDEAHTNSA ILPLLPRETS ISSVIW