RCC1L - RCC1 like Gene

Also Known as WBSCR16

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 81554

Summary

This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a Guanine Nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Ubiquitous expression in kidney (RPKM 12.5), fat (RPKM 10.7) and 25 other tissues.

RCC1L Products (4)

mRNA Protein Name
NM_001281441.2 NP_001268370.1 RCC1-like G exchanging factor-like protein isoform 3
NM_001363447.2 NP_001350376.1 RCC1-like G exchanging factor-like protein isoform 4
NM_030798.5 NP_110425.2 RCC1-like G exchanging factor-like protein isoform 1
NM_148842.3 NP_683682.1 RCC1-like G exchanging factor-like protein isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
28746876 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21988832 GOA
enables rRNA binding IDA
IDA: Inferred from direct assay
27667664 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial fusion IMP
IMP: Inferred from mutant phenotype
28746876 GOA
involved in positive regulation of mitochondrial translation IMP
IMP: Inferred from mutant phenotype
27667664 GOA
involved in ribosome biogenesis IMP
IMP: Inferred from mutant phenotype
32735630 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
32735630 GOA
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
27667664 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

RCC1L Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RCC1L Q96I51 NME6 Homo sapiens O75414
Anti Tag CoIP
27499296
Intra
RCC1L Q96I51 NME6 Homo sapiens O75414
Y2H
21988832
Cross: Cross-species interaction Intra: Intraspecies interaction