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

Also Known as HsT885; HsT3308; KIAA1468

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57614

About 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.

Summary

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

RELCH Products (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
Biological Process GO Annotation Evidence References Source
involved in intracellular cholesterol transport IDA
IDA: Inferred from direct assay
29514919 GOA
Cellular Component GO Annotation Evidence References Source
located in recycling endosome IDA
IDA: Inferred from direct assay
29514919 GOA
located in trans-Golgi network IDA
IDA: Inferred from direct assay
29514919 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

RAB11-binding protein RELCH

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

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others RELCH NCBI