8.A.140.1.1
Inositol 1,4,5-triphosphate receptor associated 2, IRAG2, JAW1, LRMP, of 555 aas and one C-terminal TMS. It plays a role in the delivery of peptides to major
histocompatibility complex (MHC) class I molecules which occurs in a
transporter associated with antigen processing (TAP)-independent manner. It may also play a role in taste signal transduction via ITPR3 as well as
during fertilization in pronucleus congression and fusion. It regulates HCN4 channels (Peters et al. 2020). A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth disease with variable severity (Beijer et al. 2025).
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| Accession Number: | Q12912 |
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| Protein Name: | Inositol 1,4,5-triphosphate receptor associated 2 |
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| Length: | 555 |
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| Molecular Weight: | 62122.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 1 |
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| Location1 / Topology2 / Orientation3: |
Endoplasmic reticulum membrane1 / Single-pass type IV membrane protein2 |
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| Substrate |
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1: MESTPFSGVA NQIHTLCERP TYGEVKDGAL DVKRQHKCPG PTSGPSPGTN LSGCIRMNDD
61: PSMEENGVER VCPESLLQSR EYSSLPLPRH TSSTDGTITS SDPGLEILNM ASCDLDRNSL
121: CKKEEDTRSA SPTIEAQGTS PAHDNIAFQD STSKDKTILN LEAKEEPETI EEHKKEHASG
181: DSVVSPLPVT TVKSVNLRQS ENTSANEKEV EAEFLRLSLG FKCDWFTLEK RVKLEERSRD
241: LAEENLKKEI TNCLKLLESL TPLCEDDNQA QEIIKKLEKS IKFLSQCAAR VASRAEMLGA
301: INQESRVSKA VEVMIQHVEN LKRMYAKEHA ELEELKQVLL QNERSFNPLE DDDDCQIKKR
361: SASLNSKPSS LRRVTIASLP RNIGNAGMVA GMENNDRFSR RSSSWRILGS KQSEHRPSLP
421: RFISTYSWAD AEEEKCELKT KDDSEPSGEE TVERTRKPSL SEKKNNPSKW DVSSVYDTIA
481: SWATNLKSSI RKANKALWLS IAFIVLFAAL MSFLTGQLFQ KSVDAAPTQQ EDSWTSLEHI
541: LWPFTRLRHN GPPPV