2. Gene
  3. CHIC1 - cysteine rich hydrophobic domain 1 Gene

CHIC1 - cysteine rich hydrophobic domain 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：富半胱氨酸的疏水结构域 1

种属: Homo sapiens

同用名: BRX

基因 ID: 53344 | 基因类型: protein coding

关于 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.

功能概要

该基因编码富含半胱氨酸的疏水 (CHIC) 结构域蛋白质，是在 X 失活中心附近发现的少数蛋白质编码基因之一。小鼠研究表明，该基因的小鼠直系同源物在小鼠中会发生 X 失活。对其他包含 CHIC 结构域的家族成员进行的实验表明，半胱氨酸残基在翻译后被棕榈酰化，从而导致膜缔合。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 5 月]

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 基因产物(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 蛋白结构

Erf4

Erf4: Golgin subfamily A member 7/ERF4 family (99 - 203)

  • 0
  • 100
  • 200
  • 224 a.a.
蛋白主名 其他名称

cysteine-rich hydrophobic domain-containing protein 1

brain X-linked protein

关联疾病

疾病名称 别名
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02629 CHIC1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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