1. Gene
  2. ABCA13 - ATP binding cassette subfamily A member 13 Gene

ABCA13 - ATP binding cassette subfamily A member 13 Gene

中文名称:ATP 结合盒亚家族 A 成员 13

种属: Homo sapiens

基因 ID: 154664 | 基因类型: protein coding

关于 ABCA13

Cytogenetic location: 7p12.3 Genomic coordinates (GRCh38): 7:48,171,458-48,647,497 (from NCBI)

This gene has 8 transcripts (splice variants), 118 orthologues and 11 paralogues. Biased expression in bone marrow (RPKM 8.6) and thyroid (RPKM 0.4).

功能概要

在人类中,跨膜转运蛋白的 ATP 结合盒 (ABC) 家族至少有 48 个基因和 7 个基因亚家族。该基因是 ABC 基因亚家族 A (ABCA) 的成员。 ABCA 家族中的基因通常编码数千个氨基酸。与其他 ABC 跨膜转运蛋白一样,该蛋白具有 12 个或更多跨膜 α 螺旋结构域,这些结构域可能排列形成具有多个底物结合位点的单个中央腔室。还预测它具有两个大的细胞外结构域和两个核苷酸结合结构域,这是 ABCA 蛋白的典型特征。已描述替代剪接变体,但尚未证明其生物学有效性。[RefSeq 提供,2009 年 3 月]

In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand Amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]

ABCA13 基因产物(1)

mRNA Protein Name
NM_152701.5 NP_689914.3 ATP-binding cassette sub-family A member 13

ABCA13 蛋白结构

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (3446 - 3771)

ABC_tran

ABC_tran: ABC transporter (3859 - 4004)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (4391 - 4670)

ABC_tran

ABC_tran: ABC transporter (4738 - 4884)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 5058 a.a.
蛋白主名 其他名称

ATP-binding cassette sub-family A member 13

ATP binding cassette transporter A13

关联疾病

疾病名称 别名
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Nephrotic Syndrome, Type 4

NPHS4

Nephrotic Syndrome Type 4

Nephrotic Syndrome 4

Isolated Diffuse Mesangial Sclerosis

Hypoalphalipoproteinemia, Primary, 1

Familial Hdl Deficiency

Fha

High Density Lipoprotein Deficiency

Familial Hypoalphalipoproteinemia

Hypoalphalipoproteinemia, Familial

Hdld

Fhd

Hdl Deficiency, Type 2

Primary Hypoalphalipoproteinemia 1

Hdl Cholesterol, Low Serum

Hdlc

Hdl Deficiency, Familial, 1

Hypoalphalipoproteinemia, Primary

Low Serum Hdl Cholesterol

Primary Hypoalphalipoproteinemia

FHA1

Hdld2

High Density Lipoprotein Deficiency 2

Hypoalphalipoproteinemias

Apolipoprotein A-I Deficiency

Astigmatism
Tangier Disease

Analphalipoproteinemia

High Density Lipoprotein Deficiency, Tangier Type

TGD

High Density Lipoprotein Deficiency, Type 1

Hdldt1

Familial High Density Lipoprotein Deficiency

A-Alphalipoprotein Neuropathy

Alpha High Density Lipoprotein Deficiency Disease

Cholesterol Thesaurismosis

Familial High Density Lipoprotein Deficiency Disease

Hdl Lipoprotein Deficiency Disease

Tangier Disease Neuropathy

Familial Alpha-Lipoprotein Deficiency

Familial High-Density Lipoprotein Deficiency 1

Primary Hypoalphalipoproteinemia 1

Analphalipo-Proteinemia

Familial Hypoalphalipo-Proteinemia

Familial Hypoalphalipoproteinemia

Lipoprotein Deficiency Disease, Hdl, Familial

Tangier Hereditary Neuropathy

Atp-Binding Cassette Transporter A1 Deficiency

Hdld1

High Density Lipoprotein Deficiency 1

Tangier Disease, Variant

Hypoalphalipoproteinemia, Familial

Familial Hdl Deficiency

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 ABCA13 VGNC VGNC:69402
Rattus norvegicus ABCA13 RGD RGD:1305895
Felis catus ABCA13 VGNC VGNC:59463
Bos taurus ABCA13 VGNC VGNC:59317
Canis familiaris ABCA13 VGNC VGNC:37424
Mus musculus ABCA13 MGD MGI:2388707