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CHIC1 - cysteine rich hydrophobic domain 1 Gene

Also Known as BRX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 53344

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

Pre-clinical Phase

Bioactive Molecules (1)

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