1. Gene
  2. ABCA8 - ATP binding cassette subfamily A member 8 Gene

ABCA8 - ATP binding cassette subfamily A member 8 Gene

中文名称:ATP 结合盒亚家族 A 成员 8

种属: Homo sapiens

基因 ID: 10351 | 基因类型: protein coding

关于 ABCA8

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,867,289-68,955,392 (from NCBI)

This gene has 14 transcripts (splice variants), 98 orthologues and 11 paralogues. Broad expression in fat (RPKM 21.2), ovary (RPKM 21.1) and 22 other tissues.

功能概要

由该基因编码的膜相关蛋白是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族 (ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White) 。这种蛋白质是 ABC1 亚家族的成员。 ABC1 亚科的成员包括仅在多细胞真核生物中发现的唯一主要 ABC 亚科。编码的蛋白质可能调节脂质代谢并参与髓磷脂的形成和维持。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 1 月]

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

ABCA8 基因产物(5)

mRNA Protein Name
NM_001288985.2 NP_001275914.1 ABC-type organic anion transporter ABCA8 isoform 1
NM_001288986.2 NP_001275915.1 ABC-type organic anion transporter ABCA8 isoform 3
NM_001375771.1 NP_001362700.1 ABC-type organic anion transporter ABCA8 isoform 4
NM_001375772.1 NP_001362701.1 ABC-type organic anion transporter ABCA8 isoform 5
NM_007168.4 NP_009099.1 ABC-type organic anion transporter ABCA8 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ABC-type transporter activity IMP
IMP: 通过突变表型推断
29300488 GOA
enables ABC-type xenobiotic transporter activity IDA
IDA: 通过直接分析推断
12379217 GOA
enables ABC-type xenobiotic transporter activity IMP
IMP: 通过突变表型推断
12379217 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol efflux IMP
IMP: 通过突变表型推断
29300488 GOA
involved in cholesterol transport IMP
IMP: 通过突变表型推断
29300488 GOA
involved in positive regulation of cholesterol efflux IMP
IMP: 通过突变表型推断
23560799 GOA
involved in regulation of cholesterol efflux IMP
IMP: 通过突变表型推断
28882873 GOA
involved in sphingomyelin biosynthetic process IMP
IMP: 通过突变表型推断
23560799 GOA
involved in xenobiotic transmembrane transport IDA
IDA: 通过直接分析推断
12379217 GOA
involved in xenobiotic transport IMP
IMP: 通过突变表型推断
12379217 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
28882873 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
28882873 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ABCA8 蛋白结构

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (32 - 418)

ABC_tran

ABC_tran: ABC transporter (499 - 619)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (915 - 1136)

ABC_tran

ABC_tran: ABC transporter (1267 - 1405)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1581 a.a.
蛋白主名 其他名称

ABC-type organic anion transporter ABCA8

ATP-binding cassette, sub-family A (ABC1), member 8

关联疾病

疾病名称 别名
Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

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
Macaca mulatta ABCA8 VGNC VGNC:69568
Canis familiaris ABCA8 VGNC VGNC:37430
Felis catus ABCA8 VGNC VGNC:59467
Rattus norvegicus ABCA8 RGD RGD:1307069