1. Gene
  2. PRIMA1 - proline rich membrane anchor 1 Gene

PRIMA1 - proline rich membrane anchor 1 Gene

中文名称:富脯氨酸的膜锚 1

种属: Homo sapiens

同用名: PRIMA

基因 ID: 145270 | 基因类型: protein coding

关于 PRIMA1

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:93,718,298-93,788,994 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele and 179 orthologues. Broad expression in esophagus (RPKM 7.2), endometrium (RPKM 3.8) and 19 other tissues.

功能概要

该基因的产物用于将乙酰胆碱酯酶 (AChE) 组织成四聚体,并将 AChE 锚定在神经细胞膜上。[RefSeq 提供,2008 年 11 月]

The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]

PRIMA1 基因产物(1)

mRNA Protein Name
NM_178013.4 NP_821092.1 proline-rich membrane anchor 1 precursor
蛋白主名 其他名称

proline-rich membrane anchor 1

acetylcholinesterase membrane anchor precursor PRiMA

关联疾病

疾病名称 别名
Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

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 PRIMA1 RGD RGD:1583978
Mus musculus PRIMA1 MGD MGI:1926097
Bos taurus PRIMA1 VGNC VGNC:53948
Canis familiaris PRIMA1 VGNC VGNC:51672