RCC1L gene information - The Human Protein Atlas

GENERAL INFORMATIONⁱ General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	RCC1L
Synonyms	WBSCR16
Gene descriptionⁱ Full gene name according to HGNC.	RCC1 like
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s).	Disease related genes Human disease related genes
Predicted locationⁱ All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions. Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached. Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s). The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.	Intracellular
Protein evidence	Evidence at protein level (all genes)

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome	7
Cytoband	q11.23
Chromosome location (bp)	75027122 - 75074228
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	4
Ensembl	ENSG00000274523 (version 109)
Entrez gene	81554
HGNC	HGNC:14948
UniProt	Q96I51 (UniProt - Evidence at protein level)
neXtProt	NX_Q96I51
GeneCards	RCC1L
Antibodypedia	RCC1L antibodies

PROTEIN FUNCTION
Protein function (UniProt)ⁱ Useful information about the protein provided by UniProt.	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 1. 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 2.... show less
Molecular function (UniProt)ⁱ Keywords assigned by UniProt to proteins due to their particular molecular function.	Guanine-nucleotide releasing factor, RNA-binding, rRNA-binding
Ligand (UniProt)ⁱ Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.	GTP-binding, Nucleotide-binding
Gene summary (Entrez)ⁱ Useful information about the gene from Entrez	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]... show less

PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant	SwissProt	TrEMBL	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
RCC1L-201 ENSP00000480364 ENST00000610322	Q96I51 [Direct mapping] RCC1-like G exchanging factor-like protein Show all		Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Show all	GO:0000166 [nucleotide binding] GO:0003723 [RNA binding] GO:0005085 [guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005525 [GTP binding] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0008053 [mitochondrial fusion] GO:0016020 [membrane] GO:0019843 [rRNA binding] GO:0031966 [mitochondrial membrane] GO:0070131 [positive regulation of mitochondrial translation] Show all	464 aa 49.9 kDa	No	0
RCC1L-202 ENSP00000477659 ENST00000614461	Q96I51 [Direct mapping] RCC1-like G exchanging factor-like protein Show all		Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Show all	GO:0000166 [nucleotide binding] GO:0003723 [RNA binding] GO:0005085 [guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005525 [GTP binding] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0008053 [mitochondrial fusion] GO:0016020 [membrane] GO:0019843 [rRNA binding] GO:0031966 [mitochondrial membrane] GO:0070131 [positive regulation of mitochondrial translation] Show all	454 aa 48.7 kDa	No	0
RCC1L-203 ENSP00000477558 ENST00000615250		A0A087WT38 [Direct mapping] RCC1-like G exchanging factor-like protein Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Show all		153 aa 17.2 kDa	No	0
RCC1L-205 ENSP00000480781 ENST00000618035	Q96I51 [Direct mapping] RCC1-like G exchanging factor-like protein Show all		Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Show all	GO:0000166 [nucleotide binding] GO:0003723 [RNA binding] GO:0005085 [guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005525 [GTP binding] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0008053 [mitochondrial fusion] GO:0016020 [membrane] GO:0019843 [rRNA binding] GO:0031966 [mitochondrial membrane] GO:0070131 [positive regulation of mitochondrial translation] Show all	358 aa 38.3 kDa	No	0