2. Gene
  3. RELCH - RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing Gene

RELCH - RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing Gene

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

中文名称：含 RAB11 结合和 LisH 域、卷曲螺旋和 HEAT 重复

种属: Homo sapiens

同用名: HsT885; HsT3308; KIAA1468

基因 ID: 57614 | 基因类型: protein coding

关于 RELCH

Cytogenetic location: 18q21.33 Genomic coordinates (GRCh38): 18:62,187,255-62,310,249 (from NCBI)

This gene has 13 transcripts (splice variants) and 211 orthologues. Ubiquitous expression in skin (RPKM 6.0), esophagus (RPKM 5.7) and 25 other tissues.

功能概要

参与细胞内胆固醇转运。位于循环核内体和跨高尔基体网络中。 [由基因组资源联盟提供，2022 年 4 月]

Involved in intracellular Cholesterol transport. Located in recycling endosome and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]

RELCH 基因产物(7)

mRNA Protein Name
NM_001346229.2 NP_001333158.1 RAB11-binding protein RELCH isoform a
NM_001346230.2 NP_001333159.1 RAB11-binding protein RELCH isoform b
NM_001346231.2 NP_001333160.1 RAB11-binding protein RELCH isoform g
NM_001346233.2 NP_001333162.1 RAB11-binding protein RELCH isoform d
NM_001346234.2 NP_001333163.1 RAB11-binding protein RELCH isoform e
NM_001346235.2 NP_001333164.1 RAB11-binding protein RELCH isoform f
NM_020854.4 NP_065905.2 RAB11-binding protein RELCH isoform c
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular cholesterol transport IDA
IDA: 通过直接分析推断
29514919 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in recycling endosome IDA
IDA: 通过直接分析推断
29514919 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
29514919 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
蛋白主名 其他名称

RAB11-binding protein RELCH

RAB11-binding protein containing LisH, coiled-coil, and HEAT repeats

关联疾病

疾病名称 别名
Chronic Recurrent Multifocal Osteomyelitis

Chronic Multifocal Osteomyelitis

CRMO

Cmo

Cno/Crmo

Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis

Osteomyelitis, Chronic Multifocal

Multifocal Osteomyelitis, Chronic

Chronic Osteomyelitis

Chronic Multifocal Osteomyelitis, Unspecified Site

Crmo - [Chronic Multifocal Osteomyelitis]

Chronic Osteomyelitis With Draining Sinus, Unspecified Site

Bone Fistula With Chronic Osteomyelitis
Familial Expansile Osteolysis

FEO

Mccabe Disease

Osteolysis, Familial Expansile

Polyostotic Osteolytic Dysplasia, Hereditary Expansile

Hepod

Expansile Osteolysis, Familial

Eof

Hereditary Expansile Polyostotic Osteolytic Dysplasia
Colloid Adenoma

Macrofollicular Adenoma
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-RS11832 RELCH Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus RELCH VGNC VGNC:30569
Mus musculus RELCH MGD MGI:1922832
Macaca mulatta RELCH VGNC VGNC:76859
Rattus norvegicus RELCH RGD RGD:1307235
Canis familiaris RELCH VGNC VGNC:42368
Felis catus RELCH VGNC VGNC:64565
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