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Protein

RCC1 and BTB domain-containing protein 2

Gene

RCBTB2

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

Functioni

GO - Molecular functioni

  • Ran guanyl-nucleotide exchange factor activity Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136161-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
RCC1 and BTB domain-containing protein 2
Alternative name(s):
Chromosome condensation 1-like
Short name:
CHC1-L
RCC1-like G exchanging factor
Regulator of chromosome condensation and BTB domain-containing protein 2
Gene namesi
Name:RCBTB2
Synonyms:CHC1L, RLG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:1914. RCBTB2.

Pathology & Biotechi

Organism-specific databases

DisGeNETi1102.
OpenTargetsiENSG00000136161.
PharmGKBiPA26450.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002066441 – 551RCC1 and BTB domain-containing protein 2Add BLAST551

Proteomic databases

EPDiO95199.
MaxQBiO95199.
PaxDbiO95199.
PeptideAtlasiO95199.
PRIDEiO95199.

PTM databases

iPTMnetiO95199.
PhosphoSitePlusiO95199.

Expressioni

Gene expression databases

BgeeiENSG00000136161.
CleanExiHS_RCBTB2.
ExpressionAtlasiO95199. baseline and differential.
GenevisibleiO95199. HS.

Organism-specific databases

HPAiHPA040242.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FARS2O953635EBI-742404,EBI-2513774
UBE2IQ7KZS03EBI-742404,EBI-10180829

Protein-protein interaction databases

BioGridi107527. 19 interactors.
IntActiO95199. 8 interactors.
MINTiMINT-1481780.
STRINGi9606.ENSP00000345144.

Structurei

3D structure databases

ProteinModelPortaliO95199.
SMRiO95199.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati64 – 115RCC1 1Add BLAST52
Repeati117 – 169RCC1 2Add BLAST53
Repeati171 – 222RCC1 3Add BLAST52
Repeati223 – 274RCC1 4Add BLAST52
Repeati276 – 326RCC1 5Add BLAST51
Repeati328 – 382RCC1 6Add BLAST55
Domaini394 – 457BTB 1PROSITE-ProRule annotationAdd BLAST64
Domaini489 – 519BTB 2PROSITE-ProRule annotationAdd BLAST31

Sequence similaritiesi

Contains 2 BTB (POZ) domains.PROSITE-ProRule annotation
Contains 6 RCC1 repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00860000133671.
HOVERGENiHBG053261.
InParanoidiO95199.
KOiK11494.
PhylomeDBiO95199.
TreeFamiTF329478.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR000210. BTB/POZ_dom.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF00651. BTB. 1 hit.
PF00415. RCC1. 4 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF50985. SSF50985. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00626. RCC1_2. 1 hit.
PS50012. RCC1_3. 4 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95199-1) [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
MEEELPLFSG DSGKPVQATL SSLKMLDVGK WPIFSLCSEE ELQLIRQACV
60 70 80 90 100
FGSAGNEVLY TTVNDEIFVL GTNCCGCLGL GDVQSTIEPR RLDSLNGKKI
110 120 130 140 150
ACLSYGSGPH IVLATTEGEV FTWGHNAYSQ LGNGTTNHGL VPCHISTNLS
160 170 180 190 200
NKQVIEVACG SYHSLVLTSD GEVFAWGYNN SGQVGSGSTV NQPIPRRVTG
210 220 230 240 250
CLQNKVVVTI ACGQMCCMAV VDTGEVYVWG YNGNGQLGLG NSGNQPTPCR
260 270 280 290 300
VAALQGIRVQ RVACGYAHTL VLTDEGQVYA WGANSYGQLG TGNKSNQSYP
310 320 330 340 350
TPVTVEKDRI IEIAACHSTH TSAAKTQGGH VYMWGQCRGQ SVILPHLTHF
360 370 380 390 400
SCTDDVFACF ATPAVTWRLL SVEPDDHLTV AESLKREFDN PDTADLKFLV
410 420 430 440 450
DGKYIYAHKV LLKIRCEHFR SSLEDNEDDI VEMSEFSYPV YRAFLEYLYT
460 470 480 490 500
DSISLSPEEA VGLLDLATFY RENRLKKLCQ QTIKQGICEE NAIALLSAAV
510 520 530 540 550
KYDAQDLEEF CFRFCINHLT VVTQTSGFAE MDHDLLKNFI SKASRVGAFK

N
Length:551
Mass (Da):60,315
Last modified:May 1, 1999 - v1
Checksum:i0965A7FAC8143F03
GO
Isoform 2 (identifier: O95199-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Note: No experimental confirmation available.
Show »
Length:527
Mass (Da):57,769
Checksum:iCA61AA50A0CEEA10
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024758263A → T.1 PublicationCorresponds to variant rs9332000dbSNPEnsembl.1
Natural variantiVAR_024759515C → S.1 PublicationCorresponds to variant rs9332075dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0167231 – 24Missing in isoform 2. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF060219 mRNA. Translation: AAC79987.1.
AY341245 Genomic DNA. Translation: AAP88928.1.
AK315703 mRNA. Translation: BAG38065.1.
AL157813 Genomic DNA. Translation: CAH70795.1.
CH471075 Genomic DNA. Translation: EAX08799.1.
BC029052 mRNA. Translation: AAH29052.1.
CCDSiCCDS73571.1. [O95199-2]
CCDS9411.1. [O95199-1]
PIRiT50663.
RefSeqiNP_001259.1. NM_001268.3. [O95199-1]
NP_001273759.1. NM_001286830.1.
NP_001273760.1. NM_001286831.1. [O95199-2]
NP_001273761.1. NM_001286832.1.
XP_005266299.1. XM_005266242.2. [O95199-1]
XP_005266301.1. XM_005266244.2. [O95199-2]
XP_006719822.1. XM_006719759.3. [O95199-1]
UniGeneiHs.652712.

Genome annotation databases

EnsembliENST00000344532; ENSP00000345144; ENSG00000136161. [O95199-1]
ENST00000544904; ENSP00000443904; ENSG00000136161. [O95199-2]
GeneIDi1102.
KEGGihsa:1102.
UCSCiuc001vch.5. human. [O95199-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF060219 mRNA. Translation: AAC79987.1.
AY341245 Genomic DNA. Translation: AAP88928.1.
AK315703 mRNA. Translation: BAG38065.1.
AL157813 Genomic DNA. Translation: CAH70795.1.
CH471075 Genomic DNA. Translation: EAX08799.1.
BC029052 mRNA. Translation: AAH29052.1.
CCDSiCCDS73571.1. [O95199-2]
CCDS9411.1. [O95199-1]
PIRiT50663.
RefSeqiNP_001259.1. NM_001268.3. [O95199-1]
NP_001273759.1. NM_001286830.1.
NP_001273760.1. NM_001286831.1. [O95199-2]
NP_001273761.1. NM_001286832.1.
XP_005266299.1. XM_005266242.2. [O95199-1]
XP_005266301.1. XM_005266244.2. [O95199-2]
XP_006719822.1. XM_006719759.3. [O95199-1]
UniGeneiHs.652712.

3D structure databases

ProteinModelPortaliO95199.
SMRiO95199.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107527. 19 interactors.
IntActiO95199. 8 interactors.
MINTiMINT-1481780.
STRINGi9606.ENSP00000345144.

PTM databases

iPTMnetiO95199.
PhosphoSitePlusiO95199.

Proteomic databases

EPDiO95199.
MaxQBiO95199.
PaxDbiO95199.
PeptideAtlasiO95199.
PRIDEiO95199.

Protocols and materials databases

DNASUi1102.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344532; ENSP00000345144; ENSG00000136161. [O95199-1]
ENST00000544904; ENSP00000443904; ENSG00000136161. [O95199-2]
GeneIDi1102.
KEGGihsa:1102.
UCSCiuc001vch.5. human. [O95199-1]

Organism-specific databases

CTDi1102.
DisGeNETi1102.
GeneCardsiRCBTB2.
HGNCiHGNC:1914. RCBTB2.
HPAiHPA040242.
MIMi603524. gene.
neXtProtiNX_O95199.
OpenTargetsiENSG00000136161.
PharmGKBiPA26450.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00860000133671.
HOVERGENiHBG053261.
InParanoidiO95199.
KOiK11494.
PhylomeDBiO95199.
TreeFamiTF329478.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136161-MONOMER.

Miscellaneous databases

ChiTaRSiRCBTB2. human.
GeneWikiiRCBTB2.
GenomeRNAii1102.
PROiO95199.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136161.
CleanExiHS_RCBTB2.
ExpressionAtlasiO95199. baseline and differential.
GenevisibleiO95199. HS.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR000210. BTB/POZ_dom.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF00651. BTB. 1 hit.
PF00415. RCC1. 4 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF50985. SSF50985. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00626. RCC1_2. 1 hit.
PS50012. RCC1_3. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRCBT2_HUMAN
AccessioniPrimary (citable) accession number: O95199
Secondary accession number(s): B2RDW8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: May 1, 1999
Last modified: November 30, 2016
This is version 131 of the entry and version 1 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 13
    Human chromosome 13: 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.