2. Gene
  3. LMBR1L - limb development membrane protein 1 like Gene

LMBR1L - limb development membrane protein 1 like Gene

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

中文名称：肢体发育膜蛋白 1 样

种属: Homo sapiens

同用名: LIMR

基因 ID: 55716 | 基因类型: protein coding

关于 LMBR1L

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,097,139-49,110,847 (from NCBI)

This gene has 30 transcripts (splice variants), 215 orthologues and 1 paralogue. Broad expression in testis (RPKM 15.2), endometrium (RPKM 7.0) and 24 other tissues.

功能概要

启用跨膜信号受体活性。参与受体介导的内吞作用和信号转导。位于内质网膜和质膜。是质膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

LMBR1L 基因产物(11)

mRNA Protein Name
NM_001300750.2 NP_001287679.1 protein LMBR1L isoform 2
NM_001300751.2 NP_001287680.1 protein LMBR1L isoform 3
NM_001352161.2 NP_001339090.1 protein LMBR1L isoform 4
NM_001352162.2 NP_001339091.1 protein LMBR1L isoform 5
NM_001352163.2 NP_001339092.1 protein LMBR1L isoform 6
NM_001352164.2 NP_001339093.1 protein LMBR1L isoform 7
NM_001352165.2 NP_001339094.1 protein LMBR1L isoform 8
NM_001352166.2 NP_001339095.1 protein LMBR1L isoform 8
NM_001352167.2 NP_001339096.1 protein LMBR1L isoform 9
NM_001352168.2 NP_001339097.1 protein LMBR1L isoform 9
NM_018113.4 NP_060583.2 protein LMBR1L 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
11287427 GOA
enables transmembrane signaling receptor activity IDA
IDA: 通过直接分析推断
11287427 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in receptor-mediated endocytosis IMP
IMP: 通过突变表型推断
12591932 GOA
involved in signal transduction IDA
IDA: 通过直接分析推断
11287427 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
31073040 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11287427 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

LMBR1L 蛋白结构

LMBR1

LMBR1: LMBR1-like membrane protein (25 - 451)

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

protein LMBR1L

limb development membrane protein 1 like-protein

关联疾病

疾病名称 别名
Methylmalonic Aciduria And Homocystinuria, Cbld Type

Homocystinuria, Cbld Type, Variant 1

Methylmalonic Aciduria And Homocystinuria Type Cbld

Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2

MAHCD

Methylmalonic Acidemia And Homocystinuria, Cbld Type

Methylmalonic Aciduria, Cblh Type, Formerly

Methylmalonic Acidemia, Cblh Type, Formerly

Methylmalonic Aciduria, Cbld Type, Variant 2

Cobalamin D Deficiency

Methylcobalamin Deficiency Type Cbldv1

Functional Methionine Synthase Deficiency Type Cbldv1

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2

Methylmalonic Acidemia With Homocystinuria, Type Cbld

Cbld Defect

Cobalamin D Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld

Methylmalonic Aciduria With Homocystinuria, Type Cbld

Homocystinuria Cbld Variant 1

Methylmalonic Acidemia And Homocystinuria Cbld Type

Methylmalonic Aciduria And Homocystinuria Cbld-Combined

Methylmalonic Aciduria And Homocystinuria Cbld Original

Methylmalonic Aciduria Cbld Variant 2

Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Scleral Staphyloma

Scleral Ectasia

Staphyloma Of Sclera
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-RS07707 LMBR1L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus LMBR1L RGD RGD:1309631
Bos taurus LMBR1L VGNC VGNC:30923
Mus musculus LMBR1L MGD MGI:1289247
Canis familiaris LMBR1L VGNC VGNC:42711
Macaca mulatta LMBR1L VGNC VGNC:74310
Felis catus LMBR1L VGNC VGNC:63248
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