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  2. IL1RAPL1 - interleukin 1 receptor accessory protein like 1 Gene

IL1RAPL1 - interleukin 1 receptor accessory protein like 1 Gene

Homo sapiens

Also known as IL1R8; MRX10; MRX21; MRX34; OPHN4; IL1RAPL; TIGIRR-2; IL1RAPL-1; IL-1RAPL-1; IL-1-RAPL-1

Gene ID: 11141 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

IL1RAPL1 Protein Structure

Ig_2

Ig_2: Immunoglobulin domain (176 - 233)

I-set

I-set: Immunoglobulin I-set domain (250 - 349)

TIR

TIR: TIR domain (407 - 558)

  • 0
  • 200
  • 400
  • 600
  • 696 a.a.
Protein Preferred Names Protein Names

interleukin-1 receptor accessory protein-like 1

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

Recombinant IL1RAPL1 Proteins

Cat. No. Product Name Accession Purity
HY-P70923 IL1RAPL1 Protein, Human (HEK293, His) Q9NZN1 (L19-T357) ≥95%

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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