1. Gene
  2. DYNAP - dynactin associated protein Gene

DYNAP - dynactin associated protein Gene

中文名称:动力蛋白相关蛋白

种属: Homo sapiens

同用名: C18orf26

基因 ID: 284254 | 基因类型: protein coding

关于 DYNAP

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:54,575,621-54,599,493 (from NCBI)

This gene has 3 transcripts (splice variants) and 42 orthologues. Restricted expression toward esophagus (RPKM 7.4).

功能概要

参与多个过程,包括蛋白激酶 B 活性的激活;细胞对麦角固醇的反应;和细胞群增殖的正调节。位于高尔基体和质膜。 [由基因组资源联盟提供,2022 年 4 月]

Involved in several processes, including activation of protein kinase B activity; cellular response to ergosterol; and positive regulation of cell population proliferation. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

DYNAP 基因产物(2)

mRNA Protein Name
NM_001307955.1 NP_001294884.1 dynactin-associated protein isoform 2
NM_173629.3 NP_775900.2 dynactin-associated protein isoform 1
蛋白主名 其他名称

dynactin-associated protein

关联疾病

疾病名称 别名
Lissencephaly 1

LIS1

Classic Lissencephaly

Ils

Subcortical Laminar Heterotopia

Lissencephaly Due To Lis1 Mutation

Lissencephaly Sequence, Isolated

Lissencephaly, Classic

Pafah1b1-Related Lissencephaly

Classical Lissencephaly

Lissencephaly Type 1

Lissencephaly-1

Subcortical Band Heterotopia

Double Cortex

Lissencephaly Classic

Lissencephaly Sequence Isolated

Isolated Lissencephaly Sequence

Type 1 Lissencephaly

Lissencephaly Syndrome Type 1

SBH

Sclh

Lissencephaly, Type 1

Type I Lissencephaly

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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 DYNAP RGD RGD:1596811
Mus musculus DYNAP MGD MGI:1922827
Macaca mulatta DYNAP VGNC VGNC:71911