1. Gene
  2. CHRDL1 - chordin like 1 Gene

CHRDL1 - chordin like 1 Gene

中文名称:chordin 样 1

种属: Homo sapiens

同用名: CHL; MGC1; MGCN; VOPT; NRLN1; dA141H5.1

基因 ID: 91851 | 基因类型: protein coding

关于 CHRDL1

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:110,673,856-110,795,817 (from NCBI)

This gene has 5 transcripts (splice variants), 122 orthologues, 19 paralogues and is associated with 3 phenotypes. Broad expression in fat (RPKM 100.2), prostate (RPKM 57.9) and 15 other tissues.

功能概要

该基因编码骨形态发生蛋白 4 的拮抗剂。所编码的蛋白可能在地形图视网膜投射和响应缺氧的视网膜血管生成调节中发挥作用。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2009 年 1 月]

This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]

CHRDL1 基因产物(10)

mRNA Protein Name
NM_001143981.2 NP_001137453.1 chordin-like protein 1 isoform 1 precursor
NM_001143982.2 NP_001137454.1 chordin-like protein 1 isoform 2 precursor
NM_001143983.3 NP_001137455.2 chordin-like protein 1 isoform 4 precursor
NM_001367204.1 NP_001354133.1 chordin-like protein 1 isoform 1 precursor
NM_001367205.1 NP_001354134.1 chordin-like protein 1 isoform 5 precursor
NM_001367206.1 NP_001354135.1 chordin-like protein 1 isoform 5 precursor
NM_001367207.1 NP_001354136.1 chordin-like protein 1 isoform 6 precursor
NM_001367208.1 NP_001354137.1 chordin-like protein 1 isoform 7 precursor
NM_001367209.1 NP_001354138.1 chordin-like protein 1 isoform 8 precursor
NM_145234.4 NP_660277.2 chordin-like protein 1 isoform 3 precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in eye development IMP
IMP: 通过突变表型推断
22284829 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

CHRDL1 蛋白结构

VWC

VWC: von Willebrand factor type C domain (31 - 93)

VWC

VWC: von Willebrand factor type C domain (109 - 172)

VWC

VWC: von Willebrand factor type C domain (254 - 316)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 450 a.a.
蛋白主名 其他名称

chordin-like protein 1

neuralin-1

重组 CHRDL1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77896 Chordin-like 1/CHRDL1 Protein, Human (His, solution) Q9BU40-1 (E28-C456) ≥95%

关联疾病

疾病名称 别名
Megalocornea

Isolated Congenital Megalocornea

Congenital Anterior Megalophthalmia

Anterior Megalophthalmos

Mgc1

Mgcn

Congenital Keratoglobus

Combined Oxidative Phosphorylation Deficiency 11

COXPD11

Combined Oxidative Phosphorylation Defect Type 11

Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect

Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect

Combined Oxidative Phosphorylation Deficiency, Type 11

Lymphoma, Hodgkin, Classic

Hodgkin Lymphoma

Hodgkin Disease

Hodgkin'S Lymphoma

Hodgkins Lymphoma

Classic Hodgkin Lymphoma

CHL

Hodgkin Lymphoma, Susceptibility To

Hl

Hodgkin'S Sarcoma

Stage I Subdiaphragmatic Hodgkin Lymphoma

Stage Ii Subdiaphragmatic Hodgkin Lymphoma

Lymphoma, Hodgkin'S

Classic Hodgkin Disease

Hodgkin'S Disease

Lymphoma, Hodgkin, Susceptibility To

Hodgkin'S Disease Of Intrapelvic Lymph Nodes

Hodgkin'S Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb

Malignant Lymphogranuloma

Malignant Lymphogranulomatosis

Malignant Hodgkin Lymphoma

Classical Hodgkin Lymphoma, Type Not Specified

Fuchs' Heterochromic Uveitis

Fuchs' Heterochromic Cyclitis

Fuchs Heterochromic Iridocyclitis

Fhi

Fuchs Heterochromic Cyclitis

Fuch'S Heterochromic Iridocyclitis

Fuchs Uveitis Syndrome

Fuchs Heterochromic Uveitis

Amme Complex

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis

ATS-MR

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Chromosome Xq22.3 Telomeric Deletion Syndrome

Amme Syndrome

Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CHRDL1 RGD RGD:735215
Felis catus CHRDL1 VGNC VGNC:60871
Canis familiaris CHRDL1 VGNC VGNC:39229
Bos taurus CHRDL1 VGNC VGNC:84868
Mus musculus CHRDL1 MGD MGI:1933172
Macaca mulatta CHRDL1 VGNC VGNC:71139
Others CHRDL1 NCBI