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Gene: RCC1L (RCC1 like) Homo sapiens
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Symbol: RCC1L
Name: RCC1 like
Description: Exhibits guanyl-nucleotide exchange factor activity and rRNA binding activity. Involved in mitochondrial membrane fusion and positive regulation of mitochondrial translation. Localizes to the mitochondrial membrane. Implicated in Williams-Beuren syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp434D0421; MGC189739; MGC44931; RCC1-like G exchanging factor-like protein; WBSCR16; Williams-Beuren syndrome chromosomal region 16 protein; Williams-Beuren syndrome chromosome region 16
Orthologs:
Mus musculus (house mouse) : Rcc1l (reculator of chromosome condensation 1 like)  MGI  Alliance
Rattus norvegicus (Norway rat) : Rcc1l (RCC1 like)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Rcc1l (RCC1 like)
Pan paniscus (bonobo/pygmy chimpanzee) : RCC1L (RCC1 like)
Canis lupus familiaris (dog) : RCC1L (RCC1 like)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Rcc1l (RCC1 like)
Sus scrofa (pig) : RCC1L (RCC1 like)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38775,027,119 - 75,073,881 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37774,441,223 - 74,489,717 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36774,094,219 - 74,127,635 (-)NCBINCBI36hg18NCBI36
Build 34773,885,876 - 73,934,288NCBI
Celera768,097,529 - 68,130,598 (-)NCBI
Cytogenetic Map7q11.23NCBI
HuRef770,110,451 - 70,155,525 (-)NCBIHuRef
CHM1_1774,586,535 - 74,633,297 (-)NCBICHM1_1
CRA_TCAGchr7v2773,774,287 - 73,822,781 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on RCC1L
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1316823
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.