2. Gene
  3. ABCA5 - ATP binding cassette subfamily A member 5 Gene

ABCA5 - ATP binding cassette subfamily A member 5 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ATP 结合盒亚家族 A 成员 5

种属: Homo sapiens

同用名: HTC3; ABC13; EST90625

基因 ID: 23461 | 基因类型: protein coding

关于 ABCA5

Cytogenetic location: 17q24.3 Genomic coordinates (GRCh38): 17:69,244,311-69,327,133 (from NCBI)

This gene has 14 transcripts (splice variants), 219 orthologues, 11 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 10.7), small intestine (RPKM 5.7) and 25 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，但该基因的底物和功能均未知。该基因的选择性剪接会产生多种转录本变体；然而，并非所有变体都得到了充分描述。[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, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

ABCA5 基因产物(2)

mRNA Protein Name
NM_018672.5 NP_061142.2 cholesterol transporter ABCA5
NM_172232.4 NP_758424.1 cholesterol transporter ABCA5
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol homeostasis IMP
IMP: 通过突变表型推断
25125465 GOA
involved in cholesterol metabolic process IMP
IMP: 通过突变表型推断
25125465 GOA
involved in regulation of cholesterol efflux IMP
IMP: 通过突变表型推断
25125465 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

ABCA5 蛋白结构

ABC2_membrane_3

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

ABC_tran

ABC_tran: ABC transporter (497 - 643)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (865 - 1223)

ABC_tran

ABC_tran: ABC transporter (1318 - 1460)

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  • 1642 a.a.
蛋白主名 其他名称

cholesterol transporter ABCA5

ATP-binding cassette A5

关联疾病

疾病名称 别名
Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia

Gingival Fibromatosis-Hypertrichosis Syndrome

Hypertrichosis Terminalis, Generalized, With Or Without Gingival Hyperplasia

HTC3

Fibromatosis, Gingival, With Hypertrichosis

Chromosome 17q24.2-Q24.3 Deletion Syndrome

Chromosome 17q24.2-Q24.3 Duplication Syndrome

Microdeletion 17q24.2-Q24.3 Syndrome

Microduplication 17q24.2-Q24.3 Syndrome

Gingival Fibromatosis With Hypertrichosis

Extreme Hirsutism With Gingival Fibromatosis

Hereditary Gingival Fibromatosis With Hypertrichosis

Hypertrichosis Terminalis, Generalized, With Gingival Hyperplasia

Cght

Congenital Generalized Hypertrichosis Terminalis

Hirsutism-Congenital Gingival Hyperplasia Syndrome

Hypertrichosis With Or Without Gingival Hyperplasia
Joubert Syndrome 4

JBTS4

Joubert Syndrome With Renal Defect

Joubert Syndrome With Renal Anomalies

Js-R

Joubert Syndrome, Type 4
Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Hypertrichosis
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00043 ABCA5 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ABCA5 VGNC VGNC:37428
Felis catus ABCA5 VGNC VGNC:98756
Bos taurus ABCA5 VGNC VGNC:25459
Mus musculus ABCA5 MGD MGI:2386607
Rattus norvegicus ABCA5 RGD RGD:628661
Macaca mulatta ABCA5 VGNC VGNC:99109
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