RCC1L
entrez
81554
canonical
uniprot
Q96I51
canonical
ensembl
ENSG00000274523
resolver
ensp
ENSP00000477659
resolver
ensp
ENSP00000480364
resolver
ensp
ENSP00000480781
resolver
genesymbol
RCC1L
resolver
genesymbol_syn
WBSCR16
resolver
hgnc
HGNC:14948
resolver
uniprot
D3DXK0
resolver
uniprot
F5GX55
resolver
uniprot
F5H6C7
resolver
uniprot
Q548B1
resolver
uniprot
Q8IW88
resolver
uniprot
Q8N572
resolver
uniprot
Q9H0G7
resolver
uniprot_entry
RCC1L_HUMAN
resolver
uniprot_sec
D3DXK0
resolver
uniprot_sec
F5GX55
resolver
uniprot_sec
F5H6C7
resolver
uniprot_sec
Q548B1
resolver
uniprot_sec
Q8IW88
resolver
uniprot_sec
Q8N572
resolver
uniprot_sec
Q9H0G7
resolver
amino_acid_sequence
MALVALVAGARLGRRLSGPGLGRGHWTAAGRSRSRREAAEAEAEVPVVQYVGERAARADRVFVWGFSFSGALGVPSFVVPSSGPGPRAGARPRRRIQPVPYRLELDQKISSAACGYGFTLLSSKTADVTKVWGMGLNKDSQLGFHRSRKDKTRGYEYVLEPSPVSLPLDRPQETRVLQVSCGRAHSLVLTDREGVFSMGNNSYGQCGRKVVENEIYSESHRVHRMQDFDGQVVQVACGQDHSLFLTDKGEVYSCGWGADGQTGLGHYNITSSPTKLGGDLAGVNVIQVATYGDCCLAVSADGGLFGWGNSEYLQLASVTDSTQVNVPRCLHFSGVGKVRQAACGGTGCAVLNGEGHVFVWGYGILGKGPNLVESAVPEMIPPTLFGLTEFNPEIQVSRIRCGLSHFAALTNKGELFVWGKNIRGCLGIGRLEDQYFPWRVTMPGEPVDVACGVDHMVTLAKSFI
uniprot
proteins
disease_involvement
DISEASE: 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}.
uniprot
proteins
function
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). {ECO:0000269|PubMed:27667664, ECO:0000269|PubMed:28746876}.; FUNCTION: [Isoform 1]: Plays an essential role in mitochondrial ribosome biogenesis via its association with GTPases that play a role in the assembly of the large ribosome subunit. {ECO:0000269|PubMed:32735630}.; FUNCTION: [Isoform 2]: Plays an essential role in mitochondrial ribosome biogenesis via its association with GTPases that play a role in the assembly of the small ribosome subunit. {ECO:0000269|PubMed:32735630}.
uniprot
proteins
mass_dalton
49898
uniprot
proteins
mutagenesis
MUTAGEN 1..37; /note="Missing: Loss of mitochondrial localization."; /evidence="ECO:0000269|PubMed:32735630
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12073013
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27667664
uniprot
proteins
pubmed
28608466
uniprot
proteins
pubmed
28746876
uniprot
proteins
pubmed
32735630
uniprot
proteins
pubmed
37770567
uniprot
proteins
sequence_length
464
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:28608466, ECO:0000269|PubMed:28746876}.; SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion inner membrane {ECO:0000269|PubMed:32735630}.; SUBCELLULAR LOCATION: [Isoform 2]: Mitochondrion inner membrane {ECO:0000269|PubMed:32735630}.; SUBCELLULAR LOCATION: [Isoform 3]: Mitochondrion inner membrane {ECO:0000269|PubMed:32735630}.
uniprot
proteins