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: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • RNA binding Source: UniProtKB

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

EuPathDBiHostDB:ENSG00000274523.4.
HGNCiHGNC:14948. RCC1L.

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

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.
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

BgeeiENSG00000274523.
CleanExiHS_WBSCR16.
ExpressionAtlasiQ96I51. baseline and differential.
GenevisibleiQ96I51. HS.

Organism-specific databases

HPAiHPA052184.
HPA060643.

Interactioni

Protein-protein interaction databases

BioGridi123518. 37 interactors.
IntActiQ96I51. 6 interactors.
MINTiMINT-4725246.
STRINGi9606.ENSP00000333799.

Structurei

Secondary structure

1464
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi60 – 66Combined sources7
Helixi75 – 78Combined sources4
Beta strandi79 – 81Combined sources3
Beta strandi95 – 102Combined sources8
Beta strandi109 – 114Combined sources6
Beta strandi116 – 123Combined sources8
Beta strandi126 – 128Combined sources3
Beta strandi131 – 136Combined sources6
Beta strandi156 – 163Combined sources8
Turni171 – 173Combined sources3
Beta strandi176 – 181Combined sources6
Beta strandi183 – 193Combined sources11
Beta strandi195 – 199Combined sources5
Beta strandi223 – 225Combined sources3
Beta strandi228 – 230Combined sources3
Beta strandi232 – 237Combined sources6
Beta strandi239 – 246Combined sources8
Beta strandi251 – 255Combined sources5
Beta strandi264 – 268Combined sources5
Beta strandi270 – 275Combined sources6
Helixi278 – 280Combined sources3
Beta strandi285 – 299Combined sources15
Beta strandi304 – 309Combined sources6
Turni314 – 318Combined sources5
Beta strandi322 – 329Combined sources8
Turni333 – 335Combined sources3
Beta strandi337 – 343Combined sources7
Beta strandi345 – 352Combined sources8
Beta strandi357 – 363Combined sources7
Beta strandi373 – 379Combined sources7
Helixi382 – 385Combined sources4
Beta strandi389 – 391Combined sources3
Beta strandi396 – 401Combined sources6
Beta strandi403 – 410Combined sources8
Beta strandi415 – 419Combined sources5
Turni423 – 426Combined sources4
Beta strandi428 – 430Combined sources3
Beta strandi434 – 440Combined sources7
Beta strandi443 – 451Combined sources9
Beta strandi453 – 461Combined sources9

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...

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

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di2.130.10.30. 3 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.

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 → 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

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: October 25, 2017
This is version 135 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 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references