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,... See more...

Aliases for RCC1L Gene

Aliases for RCC1L Gene

  • RCC1 Like 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 16 Protein 3 4
  • Williams-Beuren Syndrome Chromosome Region 16 2 3
  • RCC1-Like G Exchanging Factor-Like Protein 3 4
  • WBSCR16 3 4
  • RCC1-Like 4

External Ids for RCC1L Gene

Previous HGNC Symbols for RCC1L Gene

  • WBSCR16

Summaries for RCC1L Gene

Entrez Gene Summary for RCC1L Gene

  • 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]

GeneCards Summary for RCC1L Gene

RCC1L (RCC1 Like) is a Protein Coding gene. Diseases associated with RCC1L include Williams-Beuren Syndrome. An important paralog of this gene is RPGR.

UniProtKB/Swiss-Prot Summary for RCC1L Gene

  • Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion (PubMed:28746876). Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system (PubMed:27667664).

Additional gene information for RCC1L Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RCC1L Gene

Genomics for RCC1L Gene

GeneHancer (GH) Regulatory Elements for RCC1L Gene

Promoters and enhancers for RCC1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J075072 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 762.1 +0.8 815 2 ZBTB40 SIX5 MLX SMARCE1 POLR2A NR2F1 CREB1 HCFC1 MIXL1 MYC RCC1L STAG3L1 PMS2P3 MIR590 NSUN5P1 TRIM73 RFC2 SPDYE5 GTF2IRD2 MG828727
GH07J075092 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 5.8 -19.1 -19073 3.4 SP1 USF2 CREB1 NFYC L3MBTL2 HDGF MNT ZNF148 CSDE1 SP7 GTF2IRD2B lnc-GTF2IRD2B-3 STAG3L1 PMS2P3 SPDYE5 NSUN5P1 TRIM73 RCC1L RF00017-6358 RF00017-6354
GH07J075077 Enhancer 0.6 Ensembl 10.5 -3.9 -3873 1.4 CTCF CC2D1A RAD21 ARID2 REST ZEB2 NR2F1 SKIL CEBPB RB1 RCC1L MG828727 GTF2IRD2B RF00017-6354 RF00017-6351
GH07J075097 Enhancer 0.2 Ensembl 5.4 -23.5 -23473 0.6 RCC1L GTF2IRD2B lnc-GTF2IRD2B-3 RF00017-6358 RF00017-6354 RF00017-6351
GH07J075094 Enhancer 0.2 dbSUPER 5.3 -21.5 -21502 1.3 RCC1L GTF2IRD2B lnc-GTF2IRD2B-3 RF00017-6358 RF00017-6354 RF00017-6351
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCC1L on UCSC Golden Path with GeneCards custom track

Genomic Locations for RCC1L Gene

Genomic Locations for RCC1L Gene
chr7:75,027,119-75,074,228
(GRCh38/hg38)
Size:
47,110 bases
Orientation:
Minus strand
chr7:74,441,226-74,490,064
(GRCh37/hg19)
Size:
48,839 bases
Orientation:
Minus strand

Genomic View for RCC1L Gene

Genes around RCC1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCC1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCC1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCC1L Gene

Proteins for RCC1L Gene

  • Protein details for RCC1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96I51-RCC1L_HUMAN
    Recommended name:
    RCC1-like G exchanging factor-like protein
    Protein Accession:
    Q96I51
    Secondary Accessions:
    • D3DXK0
    • F5GX55
    • F5H6C7
    • Q548B1
    • Q8IW88
    • Q8N572
    • Q9H0G7

    Protein attributes for RCC1L Gene

    Size:
    464 amino acids
    Molecular mass:
    49997 Da
    Quaternary structure:
    • Forms a regulatory protein-RNA complex, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA. Interacts with 16S mt-rRNA; this interaction is direct (PubMed:27667664). Interacts with OPA1; this interaction is direct (PubMed:28746876).

    Three dimensional structures from OCA and Proteopedia for RCC1L Gene

    Alternative splice isoforms for RCC1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RCC1L Gene

Post-translational modifications for RCC1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RCC1L Gene

No data available for DME Specific Peptides for RCC1L Gene

Domains & Families for RCC1L Gene

Gene Families for RCC1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RCC1L Gene

Suggested Antigen Peptide Sequences for RCC1L Gene

GenScript: Design optimal peptide antigens:
  • Williams-Beuren syndrome chromosome region 16 (B2RXG5_HUMAN)
  • WBSCR16 protein (Q8N572_HUMAN)
  • RCC1-like G exchanging factor-like protein (WBS16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96I51

UniProtKB/Swiss-Prot:

RCC1L_HUMAN :
  • The RCC1-like repeats assemble into a circular seven-bladed beta propeller structure. Each blade is composed of four antiparallel beta-strands with loops between each strand.
Domain:
  • The RCC1-like repeats assemble into a circular seven-bladed beta propeller structure. Each blade is composed of four antiparallel beta-strands with loops between each strand.
genes like me logo Genes that share domains with RCC1L: view

Function for RCC1L Gene

Molecular function for RCC1L Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion (PubMed:28746876). Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system (PubMed:27667664).

Gene Ontology (GO) - Molecular Function for RCC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IEA 22658674
GO:0005085 guanyl-nucleotide exchange factor activity IEA,IDA 28746876
GO:0005515 protein binding IPI 21988832
GO:0005525 GTP binding IEA --
GO:0019843 rRNA binding IDA,IEA 27667664
genes like me logo Genes that share ontologies with RCC1L: view
genes like me logo Genes that share phenotypes with RCC1L: view

Animal Models for RCC1L Gene

MGI Knock Outs for RCC1L:
  • Rcc1l Rcc1l<tm1a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RCC1L Gene

Localization for RCC1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCC1L Gene

Mitochondrion membrane. Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RCC1L gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RCC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA,IDA 27667664
genes like me logo Genes that share ontologies with RCC1L: view

Pathways & Interactions for RCC1L Gene

PathCards logo

SuperPathways for RCC1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for RCC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070131 positive regulation of mitochondrial translation IMP 27667664
GO:1990613 mitochondrial membrane fusion IMP 28746876
genes like me logo Genes that share ontologies with RCC1L: view

No data available for Pathways by source and SIGNOR curated interactions for RCC1L Gene

Drugs & Compounds for RCC1L Gene

No Compound Related Data Available

Transcripts for RCC1L Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RCC1L Gene

No ASD Table

Relevant External Links for RCC1L Gene

GeneLoc Exon Structure for
RCC1L
ECgene alternative splicing isoforms for
RCC1L

Expression for RCC1L Gene

NURSA nuclear receptor signaling pathways regulating expression of RCC1L Gene:

RCC1L

mRNA Expression by UniProt/SwissProt for RCC1L Gene:

Q96I51-RCC1L_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RCC1L Gene

  • Nervous system(2.6)
  • Pancreas(2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RCC1L Gene

Orthologs for RCC1L Gene

This gene was present in the common ancestor of animals.

Orthologs for RCC1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WBSCR16 32
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia WBSCR16 32
  • 87.57 (n)
dog
(Canis familiaris)
Mammalia LOC489793 32
  • 87.24 (n)
rat
(Rattus norvegicus)
Mammalia Wbscr16 32
  • 83.99 (n)
mouse
(Mus musculus)
Mammalia Wbscr16 32
  • 83.95 (n)
Rcc1l 17
chicken
(Gallus gallus)
Aves WBSCR16 32
  • 72.01 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr16 32
  • 68.04 (n)
zebrafish
(Danio rerio)
Actinopterygii wbscr16 32
  • 67.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3862 32
  • 52.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007506 32
  • 51.09 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_W09G3.7 32
  • 43.49 (n)
Species where no ortholog for RCC1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RCC1L Gene

ENSEMBL:
Gene Tree for RCC1L (if available)
TreeFam:
Gene Tree for RCC1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RCC1L: view image

Paralogs for RCC1L Gene

Paralogs for RCC1L Gene

genes like me logo Genes that share paralogs with RCC1L: view

Variants for RCC1L Gene

Sequence variations from dbSNP and Humsavar for RCC1L Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000023208 -- 75,051,825(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000088023 -- 75,060,638(-) C/A intron_variant
rs1000176824 -- 75,057,407(-) G/A intron_variant
rs1000252114 -- 75,057,538(-) C/A coding_sequence_variant, missense_variant
rs1000431179 -- 75,063,685(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RCC1L Gene

Variant ID Type Subtype PubMed ID
dgv11452n54 CNV loss 21841781
dgv3593n106 CNV deletion 24896259
esv23669 CNV gain+loss 19812545
esv2658348 CNV deletion 23128226
esv3613718 CNV loss 21293372
esv3613719 CNV gain 21293372
nsv1032137 CNV gain 25217958
nsv1075972 CNV deletion 25765185
nsv607498 CNV loss 21841781
nsv7402 OTHER inversion 18451855
nsv8145 CNV gain 18304495
nsv951355 CNV deletion 24416366

Variation tolerance for RCC1L Gene

Gene Damage Index Score: 7.22; 81.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RCC1L Gene

Human Gene Mutation Database (HGMD)
RCC1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCC1L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCC1L Gene

Disorders for RCC1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for RCC1L Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
- elite association - COSMIC cancer census association via MalaCards
Search RCC1L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RCC1L_HUMAN
  • Note=WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000305 PubMed:12073013}.

Additional Disease Information for RCC1L

genes like me logo Genes that share disorders with RCC1L: view

No data available for Genatlas for RCC1L Gene

Publications for RCC1L Gene

  1. Crystal structure of human WBSCR16, an RCC1-like protein in mitochondria. (PMID: 28608466) Koyama M … Matsuura Y (Protein science : a publication of the Protein Society 2017) 2 3 4 56
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4 56
  3. WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial Fusion. (PMID: 28746876) Huang G … Greenspan DS (Cell reports 2017) 3 4 56
  4. A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation. (PMID: 27667664) Arroyo JD … Mootha VK (Cell metabolism 2016) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for RCC1L Gene

Sources for RCC1L Gene