IL1RAPL1 - interleukin 1 receptor accessory protein like 1 Gene

中文名称：白介素 1 受体辅助蛋白样 1

种属: Homo sapiens

同用名: IL1R8; MRX10; MRX21; MRX34; OPHN4; IL1RAPL; TIGIRR-2; IL1RAPL-1; IL-1RAPL-1; IL-1-RAPL-1

基因 ID: 11141 | 基因类型: protein coding

关于 IL1RAPL1

Cytogenetic location: Xp21.3-p21.2 Genomic coordinates (GRCh38): X:28,587,446-29,956,718 (from NCBI)

This gene has 2 transcripts (splice variants), 294 orthologues, 10 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质是白细胞介素 1 受体家族的一员，与白细胞介素 1 辅助蛋白相似。该蛋白具有一个 N 末端信号肽、三个细胞外免疫球蛋白 Ig 样结构域、一个跨膜结构域、一个细胞内 Toll/IL-1R 结构域和一个与多个信号分子相互作用的长 C 末端尾部。该基因位于 X 染色体上与非综合征形式的 X 连锁智力障碍相关的区域。在智力障碍患者中发现了该基因的缺失和突变。该基因在涉及海马体记忆系统的出生后大脑结构中以高水平表达，这表明在记忆和学习能力的生理过程中发挥特殊作用，并在突触形成和稳定中发挥作用。[RefSeq 提供，2017 年 7 月]

The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]

IL1RAPL1 基因产物(1)

mRNA	Protein	Name
NM_014271.4	NP_055086.1	interleukin-1 receptor accessory protein-like 1 precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
NOT enables interleukin-1 binding	IDA IDA: 通过直接分析推断	12783849	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12783849	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of exocytosis	IDA IDA: 通过直接分析推断	12783849	GOA
involved in regulation of postsynapse organization	IDA IDA: 通过直接分析推断	21926414	GOA
involved in regulation of postsynapse organization	IMP IMP: 通过突变表型推断	21926414	GOA
involved in regulation of presynapse assembly	IDA IDA: 通过直接分析推断	21926414	GOA
involved in regulation of presynapse assembly	IMP IMP: 通过突变表型推断	21926414	GOA
involved in trans-synaptic signaling by trans-synaptic complex	IDA IDA: 通过直接分析推断	21926414	GOA
involved in trans-synaptic signaling by trans-synaptic complex	IMP IMP: 通过突变表型推断	21926414	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in glutamatergic synapse	IDA IDA: 通过直接分析推断	21926414	GOA
is active in glutamatergic synapse	IMP IMP: 通过突变表型推断	21926414	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	12783849	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

IL1RAPL1 蛋白结构

Ig_2

I-set

TIR

0
200
400
600
696 a.a.

蛋白主名

其他名称

interleukin-1 receptor accessory protein-like 1

X-linked interleukin-1 receptor accessory protein-like 1

重组 IL1RAPL1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70923	IL1RAPL1 Protein, Human (HEK293, His)	Q9NZN1-1 (L19-T357)	≥95%

关联疾病

疾病名称

别名

Intellectual Developmental Disorder, X-Linked 21

Mental Retardation, X-Linked 34	XLID21
Mrx21	Mrx34
Mental Retardation, X-Linked 21	Atkin Syndrome

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Glycerol Kinase Deficiency

Hyperglycerolemia	GKD
Gk Deficiency	Gk1 Deficiency
Deficiency Of Glycerol Kinase	Isolated Glycerol Kinase Deficiency
Glycerol Kinase Deficiency, Adult Form	Glycerol Kinase Deficiency, Juvenile Form
Deficiency, Glycerol Kinase

Adrenal Hypoplasia, Congenital

X-Linked Adrenal Hypoplasia Congenita	Congenital Adrenal Hypoplasia
AHC	Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism
Adrenal Hypoplasia Congenita	X-Linked Ahc
Ahch	Ahx
Ahc With Hhg	Cytomegalic Adrenocortical Hypoplasia
Ahc With Isolated Gonadotropin Deficiency	X-Linked Congenital Adrenal Hypoplasia
Congenital Adrenal Hypoplasia, X-Linked	Addison Disease, X-Linked
Primary Adrenal Hypoplasia	Adrenal Hypoplasia Congenital, X-Linked
X-Linked Addison Disease	X-Linked Adrenal Hypoplasia Congenital
Congenital Hypoplasia Of Adrenal Gland	Congenital Adrenal Gland Hypoplasia
Congenital Small Adrenal Gland	Adrenal Hypoplasia
Cah - [Congenital Adrenal Hypoplasia]

Chromosome Xp21 Deletion Syndrome

Complex Glycerol Kinase Deficiency	Xp21 Microdeletion Syndrome
Monosomy Xp21	Xp21 Deletion Syndrome
Complex Gkd	Del
Xp21 Contiguous Gene Deletion Syndrome	Glycerol Kinase Deficiency - Contiguous Gene Syndrome

Syndromic Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 91

Mrx91

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type	Hsd10 Disease, Atypical Type
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome	Mrxs10
Mental Retardation, X-Linked, Syndromic 10

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1	Mrx18
Mrx78	X-Linked Mental Retardation 1/78
X-Linked Mental Retardation 18

Intellectual Developmental Disorder, Autosomal Dominant 4

MRD4	Autosomal Dominant Non-Syndromic Intellectual Disability 4
Mental Retardation, Autosomal Dominant 4	Autosomal Dominant Intellectual Developmental Disorder 4

Non-Syndromic X-Linked Intellectual Disability 30

Mrx30	Mrx47
X-Linked Mental Retardation 30/47	X-Linked Mental Retardation 47
Mental Retardation, X-Linked, Type 30/47

Non-Syndromic X-Linked Intellectual Disability 106

Mrx106

X-Linked Mental Retardation 106

Non-Syndromic X-Linked Intellectual Disability 58

Mrx58

Non-Syndromic X-Linked Intellectual Disability 98

Mrx98

X-Linked Mental Retardation 98

Hypoadrenocorticism, Familial

Addison Disease	Primary Adrenocortical Insufficiency
Addison'S Disease	Adrenal Gland Hypofunction
Adrenal Hypoplasia	Adrenal Aplasia
Addison Disease, Chronic Adrenal Insufficiency	Primary Hypoadrenalism
Hypoadrenocorticism Familial	Autoimmune Addison Disease
Autoimmune Adrenalitis	Classic Addison Disease
Primary Addison Disease	Addisons Disease
Addison Disease, Susceptibility To	Autoimmune Primary Adrenal Insufficiency
Addison'S Disease Due To Autoimmunity

Chromosome 9p Deletion Syndrome

Monosomy 9p	Monosomy 9p Syndrome
Alfi Syndrome	9p Syndrome
Chromosome 9p Deletion	9p Deletion
9p Monosomy	Deletion 9p
Partial Monosomy 9p	9p Deletion Syndrome
9p- Syndrome	Alfi'S Syndrome
Chromosome 9, Partial Trisomy 9p

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06723	IL1RAPL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	IL1RAPL1	VGNC	VGNC:73719
Canis familiaris	IL1RAPL1	VGNC	VGNC:103683
Rattus norvegicus	IL1RAPL1	RGD	RGD:727891
Mus musculus	IL1RAPL1	MGD	MGI:2687319
Others	IL1RAPL1	NCBI

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