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  2. PLXNC1 - plexin C1 Gene

PLXNC1 - plexin C1 Gene

中文名称:丛素 C1

种属: Homo sapiens

同用名: CD232; VESPR; PLXN-C1

基因 ID: 10154 | 基因类型: protein coding

关于 PLXNC1

Cytogenetic location: 12q22 Genomic coordinates (GRCh38): 12:94,148,577-94,307,675 (from NCBI)

This gene has 11 transcripts (splice variants), 214 orthologues and 8 paralogues. Broad expression in appendix (RPKM 8.1), testis (RPKM 6.6) and 23 other tissues.

功能概要

该基因编码 plexin 家族的一个成员。丛蛋白是信号素的跨膜受体,信号素是调节轴突导向、细胞运动和迁移以及免疫反应的一大类蛋白质。编码的蛋白质及其配体调节黑素细胞粘附,病毒信号素可通过与该受体结合来调节免疫反应。所编码的蛋白质可能是黑色素瘤的肿瘤抑制蛋白。已观察到该基因的可变剪接转录物变体。[RefSeq 提供,2011 年 1 月]

This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]

PLXNC1 基因产物(1)

mRNA Protein Name
NM_005761.3 NP_005752.1 plexin-C1 precursor

PLXNC1 蛋白结构

PSI

PSI: Plexin repeat (454 - 507)

TIG

TIG: IPT/TIG domain (663 - 746)

TIG

TIG: IPT/TIG domain (754 - 840)

Plexin_cytopl

Plexin_cytopl: Plexin cytoplasmic RasGAP domain (1012 - 1535)

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  • 1568 a.a.
蛋白主名 其他名称

plexin-C1

plexin (semaphorin receptor)

关联疾病

疾病名称 别名
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Smallpox

Variola

Ordinary Smallpox

Alastrim

Amaas

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

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
Canis familiaris PLXNC1 VGNC VGNC:44725
Bos taurus PLXNC1 VGNC VGNC:33064
Macaca mulatta PLXNC1 VGNC VGNC:76190
Rattus norvegicus PLXNC1 RGD RGD:1307420
Mus musculus PLXNC1 MGD MGI:1890127