2. Gene
  3. CARMIL1 - capping protein regulator and myosin 1 linker 1 Gene

CARMIL1 - capping protein regulator and myosin 1 linker 1 Gene

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

中文名称：封盖蛋白调节因子和肌球蛋白 1 接头 1

种属: Homo sapiens

同用名: CARMIL; LRRC16; LRRC16A; CARMIL1a; dJ501N12.1; dJ501N12.5

基因 ID: 55604 | 基因类型: protein coding

关于 CARMIL1

Cytogenetic location: 6p22.2 Genomic coordinates (GRCh38): 6:25,279,374-25,620,530 (from NCBI)

This gene has 6 transcripts (splice variants), 268 orthologues and 4 paralogues. Broad expression in testis (RPKM 7.4), small intestine (RPKM 6.3) and 24 other tissues.

功能概要

参与多个过程，包括肌动蛋白丝网络形成；质膜结合细胞投射组织；和细胞成分组织的正向调节。位于多个细胞成分中，包括 lamellipodium；巨噬细胞体；和核斑点。 [由基因组资源联盟提供，2022 年 4 月]

Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; and positive regulation of cellular component organization. Located in several cellular components, including lamellipodium; macropinosome; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]

CARMIL1 基因产物(2)

mRNA Protein Name
NM_001173977.2 NP_001167448.1 F-actin-uncapping protein LRRC16A isoform 2
NM_017640.6 NP_060110.4 F-actin-uncapping protein LRRC16A isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
19846667 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
16054028 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament network formation IDA
IDA: 通过直接分析推断
19846667 GOA
involved in cell migration IMP
IMP: 通过突变表型推断
19846667 GOA
involved in lamellipodium assembly IMP
IMP: 通过突变表型推断
19846667 GOA
involved in macropinocytosis IDA
IDA: 通过直接分析推断
19846667 GOA
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
19846667 GOA
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
16054028 GOA
involved in positive regulation of lamellipodium organization IDA
IDA: 通过直接分析推断
16054028 GOA
involved in positive regulation of stress fiber assembly IMP
IMP: 通过突变表型推断
16054028 GOA
involved in positive regulation of substrate adhesion-dependent cell spreading IMP
IMP: 通过突变表型推断
16054028 GOA
involved in ruffle organization IMP
IMP: 通过突变表型推断
19846667 GOA
involved in urate metabolic process IMP
IMP: 通过突变表型推断
19503597 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell leading edge IDA
IDA: 通过直接分析推断
19846667 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
19846667 GOA
located in macropinosome IDA
IDA: 通过直接分析推断
19846667 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
26578515 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

CARMIL1 蛋白结构

LRR_6

LRR_6: Leucine Rich repeat (276 - 297)

LRR_6

LRR_6: Leucine Rich repeat (483 - 497)

LRR_6

LRR_6: Leucine Rich repeat (570 - 593)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1371 a.a.
蛋白主名 其他名称

F-actin-uncapping protein LRRC16A

CARMIL homolog

关联疾病

疾病名称 别名
Gout

Gouty Arthritis

Articular Gout

Gouty Arthropathy

Arthritis, Gouty

Arthritis Gouty

Idiopathic Gout

Idiopathic Gout, Unspecified Site

Gouty Bursitis

Uratic Arthritis

Gout Nos

Gouty

Gouty Diathesis
Olecranon Bursitis

Bursitis Of Elbow

Bursitis Of Elbow Region

Capped Elbow

Elbow Bursitis

Miner'S Elbow

Miners' Elbow

Shoe Boil
Phosphoribosylpyrophosphate Synthetase Superactivity

PRPS1 SUPERACTIVITY

Prpp Synthetase Superactivity

Gout, Prps-Related

Prpp Synthetase Deficiency

Prpp Synthetase Overactivity

Prs Overactivity

Prs Superactivity

Mild Phosphoribosylpyrophosphate Synthetase Superactivity

Mild Prpp Synthetase Superactivity

Mild Prps1 Superactivity

Severe Phosphoribosylpyrophosphate Synthetase Superactivity

Severe Prpp Synthetase Superactivity

Severe Prps1 Superactivity

Prps-Related Gout

Superactivity, Phosphoribosylpyrophosphate Synthetase
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-RS01929 CARMIL1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CARMIL1 MGD MGI:1915982
Canis familiaris CARMIL1 VGNC VGNC:38722
Macaca mulatta CARMIL1 VGNC VGNC:70602
Bos taurus CARMIL1 VGNC VGNC:26768
Rattus norvegicus CARMIL1 RGD RGD:1306623
Felis catus CARMIL1 VGNC VGNC:60370
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