1. Gene
  2. ABCA6 - ATP binding cassette subfamily A member 6 Gene

ABCA6 - ATP binding cassette subfamily A member 6 Gene

中文名称:ATP 结合盒亚家族 A 成员 6

种属: Homo sapiens

同用名: EST155051

基因 ID: 23460 | 基因类型: protein coding

关于 ABCA6

Cytogenetic location: 17q24.2-q24.3 Genomic coordinates (GRCh38): 17:69,062,044-69,141,895 (from NCBI)

This gene has 7 transcripts (splice variants), 124 orthologues and 11 paralogues. Broad expression in liver (RPKM 14.4), urinary bladder (RPKM 9.9) and 19 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 和 White) 。这种编码的蛋白质是 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。该基因聚集在 17q24 上的其他 4 个 ABC1 家族成员中,可能在巨噬细胞脂质稳态中发挥作用。[RefSeq 提供,2008 年 7 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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 Other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]

ABCA6 基因产物(1)

mRNA Protein Name
NM_080284.3 NP_525023.2 ATP-binding cassette sub-family A member 6
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
24028821 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
23137377 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

ABCA6 蛋白结构

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (30 - 416)

ABC_tran

ABC_tran: ABC transporter (497 - 642)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (912 - 1167)

ABC_tran

ABC_tran: ABC transporter (1304 - 1440)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1617 a.a.
蛋白主名 其他名称

ATP-binding cassette sub-family A member 6

ABC transporter ABCA6

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
Bos taurus ABCA6 VGNC VGNC:25460
Mus musculus ABCA6 MGD MGI:1923434
Felis catus ABCA6 VGNC VGNC:59466
Rattus norvegicus ABCA6 RGD RGD:1308998
Macaca mulatta ABCA6 VGNC VGNC:99110
Others ABCA6 NCBI