Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

RCC1-like G exchanging factor-like protein

Gene

RCC1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).2 Publications

GO - Molecular functioni

  • GTP binding Source: UniProtKB-KW
  • guanyl-nucleotide exchange factor activity Source: UniProtKB
  • RNA binding Source: UniProtKB
  • rRNA binding Source: UniProtKB

GO - Biological processi

  • mitochondrial membrane fusion Source: UniProtKB
  • positive regulation of mitochondrial translation Source: UniProtKB

Keywordsi

Molecular functionGuanine-nucleotide releasing factor, RNA-binding, rRNA-binding
LigandGTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
RCC1-like G exchanging factor-like protein
Short name:
RCC1-like1 Publication
Alternative name(s):
Williams-Beuren syndrome chromosomal region 16 protein1 Publication
Gene namesi
Name:RCC1LImported
Synonyms:WBSCR163 Publications
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000274523.4
HGNCiHGNC:14948 RCC1L
neXtProtiNX_Q96I51

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

MIMi194050 phenotype
PharmGKBiPA37941

Polymorphism and mutation databases

DMDMi116242843

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 31MitochondrionSequence analysisAdd BLAST31
ChainiPRO_000020665632 – 464RCC1-like G exchanging factor-like proteinAdd BLAST433

Proteomic databases

EPDiQ96I51
MaxQBiQ96I51
PaxDbiQ96I51
PeptideAtlasiQ96I51
PRIDEiQ96I51
ProteomicsDBi76812

PTM databases

iPTMnetiQ96I51
PhosphoSitePlusiQ96I51

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000274523 Expressed in 206 organ(s), highest expression level in muscle of leg
CleanExiHS_WBSCR16
ExpressionAtlasiQ96I51 baseline and differential
GenevisibleiQ96I51 HS

Organism-specific databases

HPAiHPA052184
HPA060643

Interactioni

Subunit structurei

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).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NME6O754144EBI-2117080,EBI-3941531

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123518, 37 interactors
IntActiQ96I51, 18 interactors
MINTiQ96I51
STRINGi9606.ENSP00000333799

Structurei

Secondary structure

1464
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96I51
SMRiQ96I51
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati58 – 124RCC1 1Sequence analysis1 PublicationAdd BLAST67
Repeati128 – 191RCC1 2Sequence analysis1 PublicationAdd BLAST64
Repeati193 – 247RCC1 3Sequence analysis1 PublicationAdd BLAST55
Repeati248 – 300RCC1 4Sequence analysis1 PublicationAdd BLAST53
Repeati302 – 353RCC1 5Sequence analysis1 PublicationAdd BLAST52
Repeati354 – 411RCC1 6Sequence analysis1 PublicationAdd BLAST58
Repeati412 – 461RCC1 7Sequence analysis1 PublicationAdd BLAST50

Domaini

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.1 Publication

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

eggNOGiKOG1426 Eukaryota
COG5184 LUCA
HOGENOMiHOG000232125
HOVERGENiHBG054246
InParanoidiQ96I51
OrthoDBiEOG091G0A2L
PhylomeDBiQ96I51
TreeFamiTF317425

Family and domain databases

Gene3Di2.130.10.30, 2 hits
InterProiView protein in InterPro
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens
PfamiView protein in Pfam
PF00415 RCC1, 4 hits
PRINTSiPR00633 RCCNDNSATION
SUPFAMiSSF50985 SSF50985, 1 hit
PROSITEiView protein in PROSITE
PS00626 RCC1_2, 1 hit
PS50012 RCC1_3, 6 hits

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96I51-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MALVALVAGA RLGRRLSGPG LGRGHWTAAR RSRSRREAAE AEAEVPVVQY
60 70 80 90 100
VGERAARADR VFVWGFSFSG ALGVPSFVVP SSGPGPRAGA RPRRRIQPVP
110 120 130 140 150
YRLELDQKIS SAACGYGFTL LSSKTADVTK VWGMGLNKDS QLGFHRSRKD
160 170 180 190 200
KTRGYEYVLE PSPVSLPLDR PQETRVLQVS CGRAHSLVLT DREGVFSMGN
210 220 230 240 250
NSYGQCGRKV VENEIYSESH RVHRMQDFDG QVVQVACGQD HSLFLTDKGE
260 270 280 290 300
VYSCGWGADG QTGLGHYNIT SSPTKLGGDL AGVNVIQVAT YGDCCLAVSA
310 320 330 340 350
DGGLFGWGNS EYLQLASVTD STQVNVPRCL HFSGVGKVRQ AACGGTGCAV
360 370 380 390 400
LNGEGHVFVW GYGILGKGPN LVESAVPEMI PPTLFGLTEF NPEIQVSRIR
410 420 430 440 450
CGLSHFAALT NKGELFVWGK NIRGCLGIGR LEDQYFPWRV TMPGEPVDVA
460
CGVDHMVTLA KSFI
Length:464
Mass (Da):49,997
Last modified:October 17, 2006 - v2
Checksum:i800F7AD456A9B4EF
GO
Isoform 2 (identifier: Q96I51-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     353-358: GEGHVF → DTWPQS
     359-464: Missing.

Note: No experimental confirmation available.
Show »
Length:358
Mass (Da):38,441
Checksum:i40C8A95DA13A3A40
GO
Isoform 3 (identifier: Q96I51-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     440-464: VTMPGEPVDVACGVDHMVTLAKSFI → APAPSASAKTTGPLL

Note: No experimental confirmation available.
Show »
Length:454
Mass (Da):48,761
Checksum:iCB2B2D11B842CCE4
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WT38A0A087WT38_HUMAN
RCC1-like G exchanging factor-like ...
RCC1L
153Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02797230R → G2 PublicationsCorresponds to variant dbSNP:rs6955671Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055617353 – 358GEGHVF → DTWPQS in isoform 2. 1 Publication6
Alternative sequenceiVSP_055618359 – 464Missing in isoform 2. 1 PublicationAdd BLAST106
Alternative sequenceiVSP_055619440 – 464VTMPG…AKSFI → APAPSASAKTTGPLL in isoform 3. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF410455 mRNA Translation: AAM62304.1
AL136804 mRNA Translation: CAB66738.1
AC124781 Genomic DNA No translation available.
CH471292 Genomic DNA Translation: EAW52090.1
CH471292 Genomic DNA Translation: EAW52091.1
BC007823 mRNA Translation: AAH07823.1
BC019008 mRNA Translation: AAH19008.1
BC032712 mRNA Translation: AAH32712.1
BC040695 mRNA Translation: AAH40695.1
CCDSiCCDS5577.1 [Q96I51-1]
CCDS64683.1 [Q96I51-3]
CCDS64684.1 [Q96I51-2]
RefSeqiNP_001268370.1, NM_001281441.1
NP_110425.2, NM_030798.4
NP_683682.1, NM_148842.2
UniGeneiHs.529623
Hs.723684

Genome annotation databases

EnsembliENST00000610322; ENSP00000480364; ENSG00000274523
ENST00000614461; ENSP00000477659; ENSG00000274523
ENST00000618035; ENSP00000480781; ENSG00000274523
GeneIDi81554
KEGGihsa:81554
UCSCiuc003ubr.5 human [Q96I51-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF410455 mRNA Translation: AAM62304.1
AL136804 mRNA Translation: CAB66738.1
AC124781 Genomic DNA No translation available.
CH471292 Genomic DNA Translation: EAW52090.1
CH471292 Genomic DNA Translation: EAW52091.1
BC007823 mRNA Translation: AAH07823.1
BC019008 mRNA Translation: AAH19008.1
BC032712 mRNA Translation: AAH32712.1
BC040695 mRNA Translation: AAH40695.1
CCDSiCCDS5577.1 [Q96I51-1]
CCDS64683.1 [Q96I51-3]
CCDS64684.1 [Q96I51-2]
RefSeqiNP_001268370.1, NM_001281441.1
NP_110425.2, NM_030798.4
NP_683682.1, NM_148842.2
UniGeneiHs.529623
Hs.723684

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XGSX-ray2.00A/B32-464[»]
ProteinModelPortaliQ96I51
SMRiQ96I51
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123518, 37 interactors
IntActiQ96I51, 18 interactors
MINTiQ96I51
STRINGi9606.ENSP00000333799

PTM databases

iPTMnetiQ96I51
PhosphoSitePlusiQ96I51

Polymorphism and mutation databases

DMDMi116242843

Proteomic databases

EPDiQ96I51
MaxQBiQ96I51
PaxDbiQ96I51
PeptideAtlasiQ96I51
PRIDEiQ96I51
ProteomicsDBi76812

Protocols and materials databases

DNASUi81554
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000610322; ENSP00000480364; ENSG00000274523
ENST00000614461; ENSP00000477659; ENSG00000274523
ENST00000618035; ENSP00000480781; ENSG00000274523
GeneIDi81554
KEGGihsa:81554
UCSCiuc003ubr.5 human [Q96I51-1]

Organism-specific databases

CTDi81554
EuPathDBiHostDB:ENSG00000274523.4
GeneCardsiRCC1L
HGNCiHGNC:14948 RCC1L
HPAiHPA052184
HPA060643
MIMi194050 phenotype
neXtProtiNX_Q96I51
PharmGKBiPA37941
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1426 Eukaryota
COG5184 LUCA
HOGENOMiHOG000232125
HOVERGENiHBG054246
InParanoidiQ96I51
OrthoDBiEOG091G0A2L
PhylomeDBiQ96I51
TreeFamiTF317425

Miscellaneous databases

ChiTaRSiRCC1L human
GenomeRNAii81554
PROiPR:Q96I51
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000274523 Expressed in 206 organ(s), highest expression level in muscle of leg
CleanExiHS_WBSCR16
ExpressionAtlasiQ96I51 baseline and differential
GenevisibleiQ96I51 HS

Family and domain databases

Gene3Di2.130.10.30, 2 hits
InterProiView protein in InterPro
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens
PfamiView protein in Pfam
PF00415 RCC1, 4 hits
PRINTSiPR00633 RCCNDNSATION
SUPFAMiSSF50985 SSF50985, 1 hit
PROSITEiView protein in PROSITE
PS00626 RCC1_2, 1 hit
PS50012 RCC1_3, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiRCC1L_HUMAN
AccessioniPrimary (citable) accession number: Q96I51
Secondary accession number(s): D3DXK0
, F5GX55, F5H6C7, Q548B1, Q8IW88, Q8N572, Q9H0G7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 142 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again