1. Gene
  2. ABCF1 - ATP binding cassette subfamily F member 1 Gene

ABCF1 - ATP binding cassette subfamily F member 1 Gene

中文名称:ATP 结合盒亚家族 F 成员 1

种属: Homo sapiens

同用名: ABC27; ABC50

基因 ID: 23 | 基因类型: protein coding

关于 ABCF1

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,571,442-30,591,522 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 196 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 25.4), bone marrow (RPKM 18.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质是 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) 。该蛋白是 GCN20 亚家族的成员。与超家族的其他成员不同,这种蛋白质缺乏大多数 ABC 转运蛋白所特有的跨膜结构域。这种蛋白质可能受肿瘤坏死因子-α 的调节,并在增强蛋白质合成和炎症过程中发挥作用。[RefSeq 提供,2008 年 7 月]

The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike Other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]

ABCF1 基因产物(2)

mRNA Protein Name
NM_001025091.2 NP_001020262.1 ATP-binding cassette sub-family F member 1 isoform a
NM_001090.3 NP_001081.1 ATP-binding cassette sub-family F member 1 isoform b
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 ATP binding IDA
IDA: 通过直接分析推断
19570978 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17894550 GOA
enables ribosome binding IDA
IDA: 通过直接分析推断
17894550 GOA
enables translation activator activity IDA
IDA: 通过直接分析推断
19570978 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of translation IDA
IDA: 通过直接分析推断
19570978 GOA
NOT involved in ribosome biogenesis IDA
IDA: 通过直接分析推断
19570978 GOA
involved in translational initiation IMP
IMP: 通过突变表型推断
19570978 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
19570978 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
19570978 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
19570978 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

ABCF1 蛋白结构

ABC_tran

ABC_tran: ABC transporter (321 - 480)

ABC_tran_Xtn

ABC_tran_Xtn: ABC transporter (519 - 593)

ABC_tran

ABC_tran: ABC transporter (642 - 771)

  • 0
  • 200
  • 400
  • 600
  • 845 a.a.
蛋白主名 其他名称

ATP-binding cassette sub-family F member 1

ATP-binding cassette 50 (TNF-alpha stimulated)

ABCF1 抗体

目录号 产品名 应用 反应物种
HY-P82967 ABCF1 Antibody (YA2712) WB, IHC-P, ICC/IF Human, Rat

关联疾病

疾病名称 别名
Bile Acid Synthesis Defect, Congenital, 5

Congenital Bile Acid Synthesis Defect 5

CBAS5

Bile Acid Synthesis Defect, Congenital, Type 5

Neurofibromatosis-Noonan Syndrome

NFNS

Neurofibromatosis Type 1

Neurofibromatosis With Noonan Phenotype

Nf1

Von Recklinghausen Disease

Neurofibromatosis Type 1-Noonan Syndrome

Noonan Neurofibromatosis Syndrome

Recklinghausen'S Disease

Noonan-Neurofibromatosis Syndrome

Fibromatosis Multiple Non Ossifying

Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots

Jaffe Campanacci Syndrome

Type 1 Neurofibromatosis

Neurofibromatosis 1

Peripheral Neurofibromatosis

Recklinghausen Disease, Nerve

Jaffe-Campanacci Syndrome

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 ABCF1 VGNC VGNC:69582
Mus musculus ABCF1 MGD MGI:1351658
Canis familiaris ABCF1 VGNC VGNC:37450
Felis catus ABCF1 VGNC VGNC:68232
Rattus norvegicus ABCF1 RGD RGD:620286
Bos taurus ABCF1 VGNC VGNC:25480