1. Gene
  2. ALS2CL - ALS2 C-terminal like Gene

ALS2CL - ALS2 C-terminal like Gene

中文名称:ALS2 C 端类

种属: Homo sapiens

同用名: RN49018

基因 ID: 259173 | 基因类型: protein coding

关于 ALS2CL

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:46,668,995-46,693,679 (from NCBI)

This gene has 10 transcripts (splice variants), 129 orthologues and 7 paralogues. Broad expression in skin (RPKM 30.9), esophagus (RPKM 10.4) and 18 other tissues.

功能概要

实现相同的蛋白质结合活性。作用于核内体组织的上游或内部。预测位于细胞质囊泡中。 [由基因组资源联盟提供,2022 年 4 月]

Enables identical protein binding activity. Acts upstream of or within endosome organization. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022]

ALS2CL 基因产物(2)

mRNA Protein Name
NM_001190707.2 NP_001177636.1 ALS2 C-terminal-like protein isoform 1
NM_147129.5 NP_667340.2 ALS2 C-terminal-like protein 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

ALS2CL 蛋白结构

MORN

MORN: MORN repeat (358 - 378)

MORN

MORN: MORN repeat (412 - 427)

MORN

MORN: MORN repeat (432 - 448)

MORN

MORN: MORN repeat (459 - 475)

MORN

MORN: MORN repeat (483 - 499)

MORN

MORN: MORN repeat (506 - 525)

MORN

MORN: MORN repeat (529 - 550)

VPS9

VPS9: Vacuolar sorting protein 9 (VPS9) domain (836 - 936)

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  • 953 a.a.
蛋白主名 其他名称

ALS2 C-terminal-like protein

ALS2CL 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
ALS2CL Q60I27 SAXO4 Homo sapiens Q7Z5V6-2
Validated Y2H
32296183
种属内
ALS2CL Q60I27 EEF1AKMT3 Homo sapiens Q96AZ1
Validated Y2H
32296183
种属内
ALS2CL Q60I27 RAB22A Homo sapiens Q9UL26
Validated Y2H
32296183
种属内
ALS2CL Q60I27 RSPH14 Homo sapiens Q9UHP6
Validated Y2H
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
Deafness, Autosomal Recessive 6

DFNB6

Neurosensory Nonsyndromic Recessive Deafness 6

Nsrd6

Autosomal Recessive Nonsyndromic Deafness 6

Autosomal Recessive Deafness 6

Deafness, Autosomal Recessive, 6

Deafness Neurosensory Autosomal Recessive 6

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6

Deafness, Autosomal Recessive, Type 6

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
Rattus norvegicus ALS2CL RGD RGD:1305208
Felis catus ALS2CL VGNC VGNC:59761
Canis familiaris ALS2CL VGNC VGNC:54571
Mus musculus ALS2CL MGD MGI:2447532
Macaca mulatta ALS2CL VGNC VGNC:69649
Bos taurus ALS2CL VGNC VGNC:25852