2. Gene
  3. SRL - sarcalumenin Gene

SRL - sarcalumenin Gene

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

中文名称：肌钙素

种属: Homo sapiens

同用名: SAR

基因 ID: 6345 | 基因类型: protein coding

关于 SRL

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:4,189,374-4,242,080 (from NCBI)

This gene has 3 transcripts (splice variants), 272 orthologues and 10 paralogues. Biased expression in heart (RPKM 76.3), prostate (RPKM 4.3) and 1 other tissue.

功能概要

预计启用 GTP 绑定活动。预计参与胞吞作用和内体转运。预计在肌肉活动的上游或响应中起作用，这些肌肉活动涉及调节肌肉适应和钙储存操作。预测位于肌浆网腔和肌浆网膜。预计在细胞内膜结合的细胞器中具有活性。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable GTP binding activity. Predicted to be involved in endocytosis and endosomal transport. Predicted to act upstream of or within response to muscle activity involved in regulation of muscle adaptation and store-operated calcium entry. Predicted to be located in sarcoplasmic reticulum lumen and sarcoplasmic reticulum membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]

SRL 基因产物(3)

mRNA Protein Name
NM_001098814.2 NP_001092284.1 sarcalumenin isoform 1 precursor
NM_001323667.1 NP_001310596.1 sarcalumenin isoform 2
NM_001323668.1 NP_001310597.1 sarcalumenin isoform 2
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

SRL 蛋白结构

Dynamin_N

Dynamin_N: Dynamin family (96 - 257)

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

sarcalumenin

关联疾病

疾病名称 别名
Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever
Hypotrichosis 1

HYPT1

Hhs

Hts

Hypotrichosis Simplex

Hypotrichosis Simplex, Generalized, Hereditary

Hereditary Generalized Hypotrichosis Simplex

Generalized Hypothricosis Simplex

Hypotrichosis Simplex Hereditary

Hypotrichosis, Type 1
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Villous Adenocarcinoma
Vitreoretinal Degeneration, Snowflake Type

Snowflake Vitreoretinal Degeneration

SVD

Snowflake Degeneration In Hereditary Vitreoretinal Degeneration
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-RS13768 SRL 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 SRL MGD MGI:2146620
Rattus norvegicus SRL RGD RGD:1306564
Canis familiaris SRL VGNC VGNC:54070
Felis catus SRL VGNC VGNC:80684
Macaca mulatta SRL VGNC VGNC:104757
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