Il1rapl1 MGI Mouse Gene Detail - MGI:2687319 - interleukin 1 receptor accessory protein-like 1

Symbol

Il1rapl1
Name

interleukin 1 receptor accessory protein-like 1
Synonyms

6330532G10Rik, IL1R8, IL1RAPL, MRX34, OPHN4, TIGIRR-2

Feature Type

protein coding gene
IDs

MGI:2687319
NCBI Gene: 331461
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

ChrX:85784476-87159251 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 39.89 cM
Mapping Data

2 experiments

SNPs within 2kb

27537 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2687319	protein coding gene	ChrX:85784476-87159554 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0035893	protein coding gene	ChrX:82870121-84323837 (-)
A/J	MGP_AJ_G0035879	protein coding gene	ChrX:82958662-84364088 (-)
AKR/J	MGP_AKRJ_G0035797	protein coding gene	ChrX:85167270-86602663 (-)
BALB/cJ	MGP_BALBcJ_G0035859	protein coding gene	ChrX:81709298-83109325 (-)
C3H/HeJ	MGP_C3HHeJ_G0035570	protein coding gene	ChrX:83148219-84563792 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036390	protein coding gene	ChrX:85431166-86870942 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033222	protein coding gene	ChrX:81734079-83059407 (-)
CAST/EiJ	MGP_CASTEiJ_G0034858	protein coding gene	ChrX:68122290-69509554 (-)
CBA/J	MGP_CBAJ_G0035545	protein coding gene	ChrX:87742381-89295592 (-)
DBA/2J	MGP_DBA2J_G0035699	protein coding gene	ChrX:82376225-83760758 (-)
FVB/NJ	MGP_FVBNJ_G0035639	protein coding gene	ChrX:81750194-83142781 (-)
LP/J	MGP_LPJ_G0035789	protein coding gene	ChrX:83649863-85070716 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035675	protein coding gene	ChrX:91295868-93257489 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036417	protein coding gene	ChrX:82575564-83988510 (-)
PWK/PhJ	MGP_PWKPhJ_G0034556	protein coding gene	ChrX:66094938-67472767 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034387	protein coding gene	ChrX:69043387-70521995 (-)
WSB/EiJ	MGP_WSBEiJ_G0034997	protein coding gene	ChrX:81484712-82904687 (-)

Human Ortholog

IL1RAPL1, interleukin 1 receptor accessory protein like 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

IL1RAPL1, interleukin 1 receptor accessory protein like 1
Synonyms

IL1R8, IL1RAPL, IL-1-RAPL-1, IL-1RAPL-1, IL1RAPL-1, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2
Links

HGNC:5996

NCBI Gene ID: 11141

neXtProt AC: NX_Q9NZN1

UniProt: Q9NZN1
Chr Location

Xp21.3-p21.2; chrX:28587446-29956718 (+) GRCh38

MGI Vertebrate Homology

Il1rapl1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: IL1RAPL1
Gene Tree

Il1rapl1

Diseases

2 with human IL1RAPL1 associations

				Human Disease	Mouse Models
				intellectual disability IDs intellectual disability DOID:1059 NCI:C84392 UMLS_CUI:C0025362
				non-syndromic X-linked intellectual disability 21 IDs non-syndromic X-linked intellectual disability 21 DOID:0112022 OMIM:300143

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

3
Targeted

7
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit premature giant inhibitory postsynaptic currents and parallel fiber-mediated recruitment of molecular layer interneurons. Knockout also affects behavior in response to physical and virtual novel objects.

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All GO Annotations

36
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

908
Tissues

34
cDNA Data

8
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase il1rapl1

ZFIN il1rapl1a, il1rapl1b

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All Sequences

37
RefSeq

2
UniProt

3
CCDS

CCDS53128.1

Ensembl

ENSMUSG00000052372 (Evidence)
NCBI Gene

331461

			Length	Strain/Species	Flank
genomic	ENSMUSG00000052372	Ensembl Gene Model \| MGI Sequence Detail	1374776	C57BL/6J	± kb
transcript	ENSMUST00000113966	Ensembl \| MGI Sequence Detail	9133	Not Applicable
polypeptide	ENSMUSP00000109599	Ensembl \| MGI Sequence Detail	696	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000008992 interleukin-1 receptor accessory protein-like 1

(term hierarchy)
PDB

4YH6, 4YH7, 5Y32
EC

3.2.2.6
InterPro Domains

IPR041416 IL-1Ra-like, immunoglobulin domain

IPR013151 Immunoglobulin

IPR007110 Immunoglobulin-like domain

IPR036179 Immunoglobulin-like domain superfamily

IPR013783 Immunoglobulin-like fold

IPR003599 Immunoglobulin subtype

IPR003598 Immunoglobulin subtype 2

IPR015621 Interleukin-1 receptor family

IPR000157 Toll/interleukin-1 receptor homology (TIR) domain

IPR035897 Toll/interleukin-1 receptor homology (TIR) domain superfamily
GlyGen

P59823 7 sites, 7 N-linked glycans (4 sites), 1 O-linked glycan (1 site)

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All nucleic 8

cDNA 8

Microarray probesets 2

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MGI:1923412

Summaries

All 46

Developmental Gene Expression 3

Gene Ontology 10

Phenotypes 14
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)

TSS for Il1rapl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr163755	ChrX:87159543-87159562 (-)	-302 bp
Tssr163754	ChrX:87159509-87159534 (-)	-271 bp
Tssr163753	ChrX:87159238-87159281 (-)	-9 bp
Tssr163752	ChrX:87159203-87159232 (-)	33 bp
Tssr163751	ChrX:86897821-86897834 (-)	261,423 bp
Tssr163750	ChrX:86823302-86823306 (-)	335,947 bp
Tssr163749	ChrX:86807355-86807378 (-)	351,884 bp
Tssr163748	ChrX:86806309-86806313 (-)	352,940 bp
Tssr163747	ChrX:86312458-86312461 (-)	846,791 bp
Tssr163746	ChrX:86281981-86282022 (-)	877,249 bp
Tssr163745	ChrX:86281731-86281735 (-)	877,518 bp
Tssr163744	ChrX:86216494-86216504 (-)	942,752 bp
Tssr163743	ChrX:86041278-86041282 (-)	1,117,971 bp
Tssr163742	ChrX:85790170-85790172 (-)	1,369,080 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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