1. Gene
  2. ABCA9 - ATP binding cassette subfamily A member 9 Gene

ABCA9 - ATP binding cassette subfamily A member 9 Gene

中文名称:ATP 结合盒亚家族 A 成员 9

种属: Homo sapiens

同用名: EST640918

基因 ID: 10350 | 基因类型: protein coding

关于 ABCA9

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,974,488-69,078,977 (from NCBI)

This gene has 8 transcripts (splice variants), 105 orthologues and 11 paralogues. Broad expression in ovary (RPKM 11.3), fat (RPKM 8.9) and 17 other tissues.

功能概要

该基因是 ATP 结合盒 (ABC) 转运蛋白超家族的成员,编码的蛋白质包含两个跨膜结构域和两个核苷酸结合折叠。 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) 。该基因是 ABC1 亚家族的成员,与染色体 17q24 上的其他四个 ABC1 家族成员聚集在一起。该基因的转录表达在单核细胞分化为巨噬细胞的过程中被诱导,并受到胆固醇输入的抑制。[RefSeq 提供,2008 年 7 月]

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. 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 gene is a member of the ABC1 subfamily and is clustered with four Other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by Cholesterol import. [provided by RefSeq, Jul 2008]

ABCA9 基因产物(1)

mRNA Protein Name
NM_080283.4 NP_525022.2 ATP-binding cassette sub-family A member 9

ABCA9 蛋白结构

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (30 - 419)

ABC_tran

ABC_tran: ABC transporter (500 - 646)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (980 - 1219)

ABC_tran

ABC_tran: ABC transporter (1310 - 1448)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1624 a.a.
蛋白主名 其他名称

ATP-binding cassette sub-family A member 9

ATP-binding cassette A9

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 ABCA9 VGNC VGNC:99111
Felis catus ABCA9 VGNC VGNC:59468
Bos taurus ABCA9 VGNC VGNC:50181
Mus musculus ABCA9 MGD MGI:2386796
Rattus norvegicus ABCA9 RGD RGD:1305931