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  2. ARCN1 - archain 1 Gene

ARCN1 - archain 1 Gene

中文名称:链条 1

种属: Homo sapiens

同用名: COPD; SSMG; SRMMD

基因 ID: 372 | 基因类型: protein coding

关于 ARCN1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,572,409-118,603,033 (from NCBI)

This gene has 4 transcripts (splice variants), 233 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 45.3), urinary bladder (RPKM 37.0) and 25 other tissues.

功能概要

该基因位于一个区域,其中包括混合谱系白血病和 Friend 白血病病毒整合 1 基因,该区域发生多种疾病相关的染色体易位。它是一种细胞内蛋白。 Archain 序列在真核生物中非常保守,这种蛋白质可能在真核细胞生物学中发挥重要作用。它与热休克蛋白和网格蛋白相关蛋白有相似之处,可能参与囊泡结构或运输。[RefSeq 提供,2008 年 7 月]

This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic Cell Biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]

ARCN1 基因产物(2)

mRNA Protein Name
NM_001142281.2 NP_001135753.1 coatomer subunit delta isoform 2
NM_001655.5 NP_001646.2 coatomer subunit delta isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

ARCN1 蛋白结构

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (9 - 130)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (269 - 501)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 511 a.a.
蛋白主名 其他名称

coatomer subunit delta

COPI coat complex subunit delta

ARCN1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ARCN1 P48444 LBHD1 Homo sapiens Q9BQE6-2 32296183
种属内
ARCN1 P48444 LBHD1 Homo sapiens Q9BQE6-2 32296183
种属内
ARCN1 P48444 LBHD1 Homo sapiens Q9BQE6-2 32296183
种属内
ARCN1 P48444 COPB1 Homo sapiens P53618 32296183
种属内
ARCN1 P48444 COPB1 Homo sapiens P53618 32296183
种属内
ARCN1 P48444 COPB1 Homo sapiens P53618 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Short Stature-Micrognathia Syndrome

Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay

SRMMD

SSMG

Parainfluenza Virus Type 3

Human Parainfluenza Virus Type 3

Piv3

Cataract 28

CTRCT28

Cataract, Age-Related Cortical, 1

Arcc1

Cataract 28, Age-Related Cortical, Susceptibility To

Cataract 28, Age-Related Cortical

Age-Related Cortical Cataract 1

Cataract 6, Multiple Types

Ctpp1

Cataract 6 Multiple Types

CTRCT6

Cataract, Posterior Polar, 1

Arcc2

Cataract, Age-Related Cortical, 2

Ctpa

Ctpp

Age Related Cortical Cataract 2

Posterior Polar Cataract 1

Posterior Polar Cataract, 1

Age-Related Cortical Cataract 2

Cataract Posterior Polar 1

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 ARCN1 VGNC VGNC:69999
Bos taurus ARCN1 VGNC VGNC:26057
Rattus norvegicus ARCN1 RGD RGD:1359110
Canis familiaris ARCN1 VGNC VGNC:38028
Mus musculus ARCN1 MGD MGI:2387591
Felis catus ARCN1 VGNC VGNC:68008