1. Gene
  2. SEC14L3 - SEC14 like lipid binding 3 Gene

SEC14L3 - SEC14 like lipid binding 3 Gene

中文名称:SEC14 类脂质结合 3

种属: Homo sapiens

同用名: TAP2

基因 ID: 266629 | 基因类型: protein coding

关于 SEC14L3

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:30,447,661-30,472,017 (from NCBI)

This gene has 7 transcripts (splice variants), 248 orthologues and 6 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质与酿酒酵母 SEC14 基因编码的蛋白质高度相似。 SEC14 蛋白是一种磷脂酰肌醇转移蛋白,对于高尔基体衍生的运输囊泡的生物发生至关重要,因此是从高尔基复合体中输出酵母分泌蛋白所必需的。这种蛋白质的具体功能尚未确定。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 7 月]

The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

SEC14L3 基因产物(5)

mRNA Protein Name
NM_001257378.2 NP_001244307.1 SEC14-like protein 3 isoform 2
NM_001257379.2 NP_001244308.1 SEC14-like protein 3 isoform 3
NM_001257382.2 NP_001244311.1 SEC14-like protein 3 isoform 3
NM_001376914.1 NP_001363843.1 SEC14-like protein 3 isoform 4
NM_174975.5 NP_777635.1 SEC14-like protein 3 isoform 1

SEC14L3 蛋白结构

CRAL_TRIO_N

CRAL_TRIO_N: CRAL/TRIO, N-terminal domain (14 - 59)

CRAL_TRIO

CRAL_TRIO: CRAL/TRIO domain (79 - 244)

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  • 400 a.a.
蛋白主名 其他名称

SEC14-like protein 3

SEC14-like 3

关联疾病

疾病名称 别名
Palindromic Rheumatism

Hench'S Syndrome

Hench-Rosenberg Syndrome

Palindromic Rheumatism Syndrome

Palindromic Arthritis

Bardet-Biedl Syndrome 13

BBS13

Bardet-Biedl Syndrome, Type 13

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 SEC14L3 VGNC VGNC:53918
Rattus norvegicus SEC14L3 RGD RGD:620812
Mus musculus SEC14L3 MGD MGI:3617848
Macaca mulatta SEC14L3 VGNC VGNC:77270
Felis catus SEC14L3 VGNC VGNC:80483