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Protein

RCC1-like G exchanging factor-like protein

Gene

RCC1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000174374-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
RCC1-like G exchanging factor-like protein
Short name:
RCC1 like
Alternative name(s):
Williams-Beuren syndrome chromosomal region 16 protein
Gene namesi
Name:RCC1LImported
Synonyms:WBSCR16
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:14948. RCC1L.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi81554.
MalaCardsiWBSCR16.
MIMi194050. phenotype.
Orphaneti904. Williams syndrome.
PharmGKBiPA37941.

Polymorphism and mutation databases

DMDMi116242843.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002066561 – 464RCC1-like G exchanging factor-like proteinAdd BLAST464

Proteomic databases

EPDiQ96I51.
MaxQBiQ96I51.
PaxDbiQ96I51.
PeptideAtlasiQ96I51.
PRIDEiQ96I51.

PTM databases

iPTMnetiQ96I51.
PhosphoSitePlusiQ96I51.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000174374.
CleanExiHS_WBSCR16.
ExpressionAtlasiQ96I51. baseline and differential.
GenevisibleiQ96I51. HS.

Organism-specific databases

HPAiHPA052184.
HPA060643.

Interactioni

Protein-protein interaction databases

BioGridi123518. 26 interactors.
IntActiQ96I51. 6 interactors.
MINTiMINT-4725246.
STRINGi9606.ENSP00000333799.

Structurei

3D structure databases

ProteinModelPortaliQ96I51.
SMRiQ96I51.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati129 – 192RCC1 1Add BLAST64
Repeati193 – 248RCC1 2Add BLAST56
Repeati249 – 301RCC1 3Add BLAST53
Repeati302 – 354RCC1 4Add BLAST53
Repeati355 – 412RCC1 5Add BLAST58
Repeati413 – 462RCC1 6Add BLAST50

Sequence similaritiesi

Contains 6 RCC1 repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
HOGENOMiHOG000232125.
HOVERGENiHBG054246.
InParanoidiQ96I51.
OrthoDBiEOG091G0A2L.
PhylomeDBiQ96I51.
TreeFamiTF317425.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view]
PfamiPF00415. RCC1. 4 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SUPFAMiSSF50985. SSF50985. 1 hit.
PROSITEiPS00626. RCC1_2. 1 hit.
PS50012. RCC1_3. 6 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02797230R → G.2 PublicationsCorresponds to variant rs6955671dbSNPEnsembl.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

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

ProteinModelPortaliQ96I51.
SMRiQ96I51.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123518. 26 interactors.
IntActiQ96I51. 6 interactors.
MINTiMINT-4725246.
STRINGi9606.ENSP00000333799.

PTM databases

iPTMnetiQ96I51.
PhosphoSitePlusiQ96I51.

Polymorphism and mutation databases

DMDMi116242843.

Proteomic databases

EPDiQ96I51.
MaxQBiQ96I51.
PaxDbiQ96I51.
PeptideAtlasiQ96I51.
PRIDEiQ96I51.

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.
DisGeNETi81554.
GeneCardsiWBSCR16.
HGNCiHGNC:14948. RCC1L.
HPAiHPA052184.
HPA060643.
MalaCardsiWBSCR16.
MIMi194050. phenotype.
neXtProtiNX_Q96I51.
Orphaneti904. Williams syndrome.
PharmGKBiPA37941.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
HOGENOMiHOG000232125.
HOVERGENiHBG054246.
InParanoidiQ96I51.
OrthoDBiEOG091G0A2L.
PhylomeDBiQ96I51.
TreeFamiTF317425.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000174374-MONOMER.

Miscellaneous databases

ChiTaRSiWBSCR16. human.
GenomeRNAii81554.
PROiQ96I51.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174374.
CleanExiHS_WBSCR16.
ExpressionAtlasiQ96I51. baseline and differential.
GenevisibleiQ96I51. HS.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view]
PfamiPF00415. RCC1. 4 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SUPFAMiSSF50985. SSF50985. 1 hit.
PROSITEiPS00626. RCC1_2. 1 hit.
PS50012. RCC1_3. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRCC1L_HUMAN
AccessioniPrimary (citable) accession number: Q96I51
Secondary accession number(s): D3DXK0
, F5GX55, F5H6C7, Q548B1, Q8IW88, Q8N572, Q9H0G7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 127 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.