CHIC1 - cysteine rich hydrophobic domain 1 Gene

Homo sapiens

Also known as BRX

Gene ID: 53344 | Gene type: protein coding

About CHIC1

Cytogenetic location: Xq13.2 Genomic coordinates (GRCh38): X:73,563,148-73,687,111 (from NCBI)

This gene has 4 transcripts (splice variants), 200 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 2.4), adrenal (RPKM 1.9) and 23 other tissues.

Summary

This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mouse ortholog of this gene is subject to X-inactivation in mouse. Experiments with other CHIC domain-containing family members show that the cysteine residues are palmitoylated post-translationally, resulting in membrane association. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]

CHIC1 Products(2)

mRNA	Protein	Name
NM_001039840.4	NP_001034929.2	cysteine-rich hydrophobic domain-containing protein 1 isoform 1
NM_001300884.1	NP_001287813.1	cysteine-rich hydrophobic domain-containing protein 1 isoform 2

CHIC1 Protein Structure

Erf4

0
100
200
224 a.a.

Protein Preferred Names

Protein Names

cysteine-rich hydrophobic domain-containing protein 1

brain X-linked protein

Related Diseases

Diseases

Alias

Tonne-Kalscheuer Syndrome

TOKAS	Mrx61
Intellectual Developmental Disorder With Or Without Hand And Foot Anomalies, Genital Anomalies, Or Congenital Diaphragmatic Hernia	Mental Retardation, X-Linked 61
X-Linked Mental Retardation 61

Non-Syndromic X-Linked Intellectual Disability 98

Mrx98

X-Linked Mental Retardation 98

Chromosome Xp11.22 Duplication Syndrome

Mrx17	Mental Retardation, X-Linked 31
Mrx31	Xp11.22 Microduplication Syndrome
X-Linked Mental Retardation 31	Mental Retardation, X-Linked 17

Allan-Herndon-Dudley Syndrome

AHDS	Allan-Herndon Syndrome
Monocarboxylate Transporter 8 Deficiency	MCT8 DEFICIENCY
Mental Retardation, X-Linked, With Hypotonia	Triiodothyronine Resistance
T3 Resistance	Mental Retardation And Muscular Atrophy
Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency	Intellectual Disability And Muscular Atrophy
Monocarboxylate Transporter-8 Deficiency	T3 Resisitence
Triiodothyronine Resistence	X-Linked Intellectual Disability With Hypotonia
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency	Monocarboxylate Transporter 8 Deficiency
X-Linked Intellectual Disability-Hypotonia 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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02629	CHIC1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CHIC1	VGNC	VGNC:39215
Macaca mulatta	CHIC1	VGNC	VGNC:71037
Rattus norvegicus	CHIC1	RGD	RGD:1589722
Felis catus	CHIC1	VGNC	VGNC:60857
Mus musculus	CHIC1	MGD	MGI:1344694
Bos taurus	CHIC1	VGNC	VGNC:27292

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