UniProtKB - Q12912 (IRAG2_HUMAN)
Protein
Inositol 1,4,5-triphosphate receptor associated 2
Gene
IRAG2
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in the delivery of peptides to major histocompatibility complex (MHC) class I molecules; this occurs in a transporter associated with antigen processing (TAP)-independent manner. May play a role in taste signal transduction via ITPR3. May play a role during fertilization in pronucleus congression and fusion. Plays a role in maintaining nuclear shape, maybe as a component of the LINC complex and through interaction with microtubules.By similarity
Caution
It is uncertain whether Met-1 or Met-57 is the initiator methionine. However, according to PubMed:8021504, the initiator methionine is coded by a non-canonical CTG leucine codon; This leucine codon is in an excellent Kozak consensus located 39 bp upstream of the corresponding first mouse ATG.Curated
GO - Molecular functioni
- microtubule binding Source: UniProtKB
GO - Biological processi
- neutrophil degranulation Source: Reactome
- nucleus organization Source: UniProtKB
- single fertilization Source: UniProtKB-KW
- vesicle fusion Source: ProtInc
- vesicle targeting Source: ProtInc
Keywordsi
Biological process | Fertilization, Immunity |
Enzyme and pathway databases
PathwayCommonsi | Q12912 |
Reactomei | R-HSA-6798695, Neutrophil degranulation |
Protein family/group databases
TCDBi | 8.A.140.1.1, the lymphoid-restricted membrane protein (lrmp) family |
Names & Taxonomyi
Protein namesi | Recommended name: Inositol 1,4,5-triphosphate receptor associated 2CuratedAlternative name(s): Lymphoid-restricted membrane protein Protein Jaw1 Cleaved into the following chain: |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6690, IRAG2 |
MIMi | 602003, gene |
neXtProti | NX_Q12912 |
VEuPathDBi | HostDB:ENSG00000118308.14 |
Subcellular locationi
Other locations
- Cytoplasm By similarity
Cytoskeleton
- centrosome By similarity
- spindle pole By similarity
Nucleus
- Nucleus envelope By similarity
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Single-pass type IV membrane protein Sequence analysis
Other locations
- Chromosome By similarity
Note: Colocalized with ITPR3 on the endoplasmic reticulum membrane.By similarity
Cytoskeleton
- microtubule organizing center Source: UniProtKB-SubCell
- spindle pole Source: UniProtKB-SubCell
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Lysosome
- azurophil granule membrane Source: Reactome
Nucleus
- nuclear envelope Source: UniProtKB
Plasma Membrane
- integral component of plasma membrane Source: ProtInc
- plasma membrane Source: Reactome
Other locations
- chromosome Source: UniProtKB-SubCell
- integral component of membrane Source: ProtInc
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 495 | CytoplasmicSequence analysisAdd BLAST | 495 | |
Transmembranei | 496 – 516 | Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 517 – 555 | LumenalSequence analysisAdd BLAST | 39 |
Keywords - Cellular componenti
Chromosome, Cytoplasm, Cytoskeleton, Endoplasmic reticulum, Membrane, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 4033 |
OpenTargetsi | ENSG00000118308 |
PharmGKBi | PA30450 |
Miscellaneous databases
Pharosi | Q12912, Tbio |
Genetic variation databases
BioMutai | LRMP |
DMDMi | 317373427 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000084483 | 1 – 555 | Inositol 1,4,5-triphosphate receptor associated 2Add BLAST | 555 | |
ChainiPRO_0000296244 | 1 – ? | Processed inositol 1,4,5-triphosphate receptor associated 2 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 91 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 363 | PhosphoserineCombined sources | 1 | |
Modified residuei | 370 | PhosphoserineCombined sources | 1 | |
Modified residuei | 424 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
The removal of the C-terminal lumenal domain occurs by proteolytic processing.By similarity
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q12912 |
jPOSTi | Q12912 |
MassIVEi | Q12912 |
MaxQBi | Q12912 |
PaxDbi | Q12912 |
PeptideAtlasi | Q12912 |
PRIDEi | Q12912 |
ProteomicsDBi | 59022 [Q12912-1] 59023 [Q12912-2] |
PTM databases
iPTMneti | Q12912 |
MetOSitei | Q12912 |
PhosphoSitePlusi | Q12912 |
Expressioni
Tissue specificityi
Expressed at high levels in pre B-cells, mature B-cells and pre T-cells. Expressed at low levels in mature T-cells and plasma B-cells. Expressed in germinal center B-cells, splenic marginal zone cells and B-cell lymphomas. Expressed in neuronal cells in the cerebral cortex, epithelial cells in tonsil, adrenal glands, zymogen-producing cells in the stomach and epithelial cells in seminal vesicles.2 Publications
Gene expression databases
Bgeei | ENSG00000118308, Expressed in tonsil and 199 other tissues |
ExpressionAtlasi | Q12912, baseline and differential |
Genevisiblei | Q12912, HS |
Organism-specific databases
HPAi | ENSG00000118308, Tissue enhanced (blood, lymphoid tissue) |
Interactioni
Subunit structurei
Interacts (via coiled-coil domain) with ITPR3.
Interacts with SUN1 and SUN2.
Interacts with microtubules.
By similarityGO - Molecular functioni
- microtubule binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 110213, 7 interactors |
IntActi | Q12912, 7 interactors |
STRINGi | 9606.ENSP00000346442 |
Miscellaneous databases
RNActi | Q12912, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 227 – 341 | Sequence analysisAdd BLAST | 115 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 351 – 354 | Poly-Asp | 4 |
Sequence similaritiesi
Belongs to the IRAG2 family.Curated
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QTH4, Eukaryota |
GeneTreei | ENSGT00530000063722 |
InParanoidi | Q12912 |
OrthoDBi | 560334at2759 |
PhylomeDBi | Q12912 |
TreeFami | TF331789 |
Family and domain databases
InterProi | View protein in InterPro IPR008677, MRVI1 |
PANTHERi | PTHR15352, PTHR15352, 1 hit |
Pfami | View protein in Pfam PF05781, MRVI1, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q12912-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MESTPFSGVA NQIHTLCERP TYGEVKDGAL DVKRQHKCPG PTSGPSPGTN
60 70 80 90 100
LSGCIRMNDD PSMEENGVER VCPESLLQSR EYSSLPLPRH TSSTDGTITS
110 120 130 140 150
SDPGLEILNM ASCDLDRNSL CKKEEDTRSA SPTIEAQGTS PAHDNIAFQD
160 170 180 190 200
STSKDKTILN LEAKEEPETI EEHKKEHASG DSVVSPLPVT TVKSVNLRQS
210 220 230 240 250
ENTSANEKEV EAEFLRLSLG FKCDWFTLEK RVKLEERSRD LAEENLKKEI
260 270 280 290 300
TNCLKLLESL TPLCEDDNQA QEIIKKLEKS IKFLSQCAAR VASRAEMLGA
310 320 330 340 350
INQESRVSKA VEVMIQHVEN LKRMYAKEHA ELEELKQVLL QNERSFNPLE
360 370 380 390 400
DDDDCQIKKR SASLNSKPSS LRRVTIASLP RNIGNAGMVA GMENNDRFSR
410 420 430 440 450
RSSSWRILGS KQSEHRPSLP RFISTYSWAD AEEEKCELKT KDDSEPSGEE
460 470 480 490 500
TVERTRKPSL SEKKNNPSKW DVSSVYDTIA SWATNLKSSI RKANKALWLS
510 520 530 540 550
IAFIVLFAAL MSFLTGQLFQ KSVDAAPTQQ EDSWTSLEHI LWPFTRLRHN
GPPPV
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H006 | F5H006_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 446 | Annotation score: | ||
A0A1B0GU45 | A0A1B0GU45_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 1,454 | Annotation score: | ||
F8W9L6 | F8W9L6_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 348 | Annotation score: | ||
G3V513 | G3V513_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 120 | Annotation score: | ||
F8VRE4 | F8VRE4_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 118 | Annotation score: | ||
G3V2F6 | G3V2F6_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 76 | Annotation score: | ||
G3V3C2 | G3V3C2_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 62 | Annotation score: | ||
H0YJC6 | H0YJC6_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 97 | Annotation score: | ||
H0YJ39 | H0YJ39_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 69 | Annotation score: | ||
A0A0G2JL87 | A0A0G2JL87_HUMAN | Inositol 1,4,5-triphosphate recepto... | IRAG2 | 8 | Annotation score: |
Sequence cautioni
The sequence AAH29391 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated
The sequence AAI26418 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 81 | E → G in AAA21604 (PubMed:8021504).Curated | 1 | |
Sequence conflicti | 113 | C → R in BAG64339 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054545 | 94 | T → A. Corresponds to variant dbSNP:rs6487451Ensembl. | 1 | |
Natural variantiVAR_054546 | 197 | L → V3 PublicationsCorresponds to variant dbSNP:rs7969931Ensembl. | 1 | |
Natural variantiVAR_054547 | 241 | L → W1 PublicationCorresponds to variant dbSNP:rs1063159Ensembl. | 1 | |
Natural variantiVAR_054548 | 253 | C → S2 PublicationsCorresponds to variant dbSNP:rs1908946Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036471 | 1 – 56 | Missing in isoform 2. 1 PublicationAdd BLAST | 56 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U10485 mRNA Translation: AAA21604.1 AK303256 mRNA Translation: BAG64339.1 AC023510 Genomic DNA No translation available. BC029391 mRNA Translation: AAH29391.1 Sequence problems. BC126417 mRNA Translation: AAI26418.1 Different initiation. |
CCDSi | CCDS8701.1 [Q12912-2] |
PIRi | I38656 |
RefSeqi | NP_001191055.1, NM_001204126.1 [Q12912-2] NP_001191056.1, NM_001204127.1 [Q12912-2] NP_006143.2, NM_006152.3 [Q12912-2] XP_005253427.1, XM_005253370.3 XP_005253429.1, XM_005253372.2 XP_005253431.1, XM_005253374.3 XP_006719139.1, XM_006719076.2 XP_011518969.1, XM_011520667.1 XP_016874789.1, XM_017019300.1 XP_016874790.1, XM_017019301.1 XP_016874791.1, XM_017019302.1 |
Genome annotation databases
Ensembli | ENST00000354454; ENSP00000346442; ENSG00000118308 [Q12912-2] ENST00000547044; ENSP00000450246; ENSG00000118308 [Q12912-2] ENST00000548766; ENSP00000446496; ENSG00000118308 [Q12912-2] |
GeneIDi | 4033 |
KEGGi | hsa:4033 |
UCSCi | uc001rgh.4, human [Q12912-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U10485 mRNA Translation: AAA21604.1 AK303256 mRNA Translation: BAG64339.1 AC023510 Genomic DNA No translation available. BC029391 mRNA Translation: AAH29391.1 Sequence problems. BC126417 mRNA Translation: AAI26418.1 Different initiation. |
CCDSi | CCDS8701.1 [Q12912-2] |
PIRi | I38656 |
RefSeqi | NP_001191055.1, NM_001204126.1 [Q12912-2] NP_001191056.1, NM_001204127.1 [Q12912-2] NP_006143.2, NM_006152.3 [Q12912-2] XP_005253427.1, XM_005253370.3 XP_005253429.1, XM_005253372.2 XP_005253431.1, XM_005253374.3 XP_006719139.1, XM_006719076.2 XP_011518969.1, XM_011520667.1 XP_016874789.1, XM_017019300.1 XP_016874790.1, XM_017019301.1 XP_016874791.1, XM_017019302.1 |
3D structure databases
SMRi | Q12912 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110213, 7 interactors |
IntActi | Q12912, 7 interactors |
STRINGi | 9606.ENSP00000346442 |
Protein family/group databases
TCDBi | 8.A.140.1.1, the lymphoid-restricted membrane protein (lrmp) family |
PTM databases
iPTMneti | Q12912 |
MetOSitei | Q12912 |
PhosphoSitePlusi | Q12912 |
Genetic variation databases
BioMutai | LRMP |
DMDMi | 317373427 |
Proteomic databases
EPDi | Q12912 |
jPOSTi | Q12912 |
MassIVEi | Q12912 |
MaxQBi | Q12912 |
PaxDbi | Q12912 |
PeptideAtlasi | Q12912 |
PRIDEi | Q12912 |
ProteomicsDBi | 59022 [Q12912-1] 59023 [Q12912-2] |
Protocols and materials databases
Antibodypediai | 1183, 86 antibodies |
DNASUi | 4033 |
Genome annotation databases
Ensembli | ENST00000354454; ENSP00000346442; ENSG00000118308 [Q12912-2] ENST00000547044; ENSP00000450246; ENSG00000118308 [Q12912-2] ENST00000548766; ENSP00000446496; ENSG00000118308 [Q12912-2] |
GeneIDi | 4033 |
KEGGi | hsa:4033 |
UCSCi | uc001rgh.4, human [Q12912-1] |
Organism-specific databases
CTDi | 4033 |
DisGeNETi | 4033 |
GeneCardsi | IRAG2 |
HGNCi | HGNC:6690, IRAG2 |
HPAi | ENSG00000118308, Tissue enhanced (blood, lymphoid tissue) |
MIMi | 602003, gene |
neXtProti | NX_Q12912 |
OpenTargetsi | ENSG00000118308 |
PharmGKBi | PA30450 |
VEuPathDBi | HostDB:ENSG00000118308.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTH4, Eukaryota |
GeneTreei | ENSGT00530000063722 |
InParanoidi | Q12912 |
OrthoDBi | 560334at2759 |
PhylomeDBi | Q12912 |
TreeFami | TF331789 |
Enzyme and pathway databases
PathwayCommonsi | Q12912 |
Reactomei | R-HSA-6798695, Neutrophil degranulation |
Miscellaneous databases
BioGRID-ORCSi | 4033, 11 hits in 873 CRISPR screens |
ChiTaRSi | LRMP, human |
GenomeRNAii | 4033 |
Pharosi | Q12912, Tbio |
PROi | PR:Q12912 |
RNActi | Q12912, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000118308, Expressed in tonsil and 199 other tissues |
ExpressionAtlasi | Q12912, baseline and differential |
Genevisiblei | Q12912, HS |
Family and domain databases
InterProi | View protein in InterPro IPR008677, MRVI1 |
PANTHERi | PTHR15352, PTHR15352, 1 hit |
Pfami | View protein in Pfam PF05781, MRVI1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | IRAG2_HUMAN | |
Accessioni | Q12912Primary (citable) accession number: Q12912 Secondary accession number(s): A0AVM2, B4E077, Q8N301 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 16, 2005 |
Last sequence update: | January 11, 2011 | |
Last modified: | February 10, 2021 | |
This is version 150 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families