1. Gene
  2. WFDC1 - WAP four-disulfide core domain 1 Gene

WFDC1 - WAP four-disulfide core domain 1 Gene

中文名称:WAP 四二硫核心结构域 1

种属: Homo sapiens

同用名: PS20

基因 ID: 58189 | 基因类型: protein coding

关于 WFDC1

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:84,294,878-84,329,844 (from NCBI)

This gene has 5 transcripts (splice variants) and 193 orthologues. Biased expression in placenta (RPKM 49.5), prostate (RPKM 33.0) and 13 other tissues.

功能概要

该基因编码 WAP 型四二硫键核心结构域家族的成员。 WAP 型四二硫键核心结构域包含八个半胱氨酸,在蛋白质核心形成四个二硫键,在许多家族成员中起蛋白酶抑制剂的作用。该基因被映射到染色体 16q24,这是一个在癌症中经常丢失杂合性的区域,包括前列腺癌、乳腺癌和肝细胞癌以及肾母细胞瘤。该基因在许多癌症类型中被下调,可能与抑制细胞增殖有关。编码的蛋白质也可能在某些 CD4 记忆 T 细胞对人类免疫缺陷病毒感染的易感性中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 9 月]

This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many Cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus Infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

WFDC1 基因产物(3)

mRNA Protein Name
NM_001282466.2 NP_001269395.1 WAP four-disulfide core domain protein 1 isoform 1 precursor
NM_001282467.2 NP_001269396.1 WAP four-disulfide core domain protein 1 isoform 2 precursor
NM_021197.4 NP_067020.2 WAP four-disulfide core domain protein 1 isoform 1 precursor

WFDC1 蛋白结构

WAP

WAP: WAP-type (Whey Acidic Protein) 'four-disulfide core' (63 - 106)

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

WAP four-disulfide core domain protein 1

WAP four-disulfide core domain 1 homolog

重组 WFDC1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P78024 WFDC1/PS20 Protein, Human (His) Q9HC57 (K32-Q220) ≥95%

关联疾病

疾病名称 别名
Corneal Staphyloma

Staphyloma Of Cornea

Congenital Staphyloma

Ocular Hypotension

Hypotony Of Eye

Myopathy, Distal, 1

Laing Distal Myopathy

Laing Early-Onset Distal Myopathy

MPD1

Distal Myopathy 1

Myopathy, Distal, Early-Onset, Autosomal Dominant

Distal Myopathy Type 1

Gowers Disease

Myopathy, Late Distal Hereditary

Myopathy Distal, Type 1

Myopathy Distal Early-Onset Autosomal Dominant

Myopathy Late Distal Hereditary

Myopathy, Distal, Type 1

Welander Distal Myopathy

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
Bos taurus WFDC1 VGNC VGNC:107028
Canis familiaris WFDC1 VGNC VGNC:48404
Mus musculus WFDC1 MGD MGI:1915116
Macaca mulatta WFDC1 VGNC VGNC:78973
Rattus norvegicus WFDC1 RGD RGD:68938
Macaca fascicularis WFDC1 NCBI
Others WFDC1 NCBI