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Protein

RCC1 and BTB domain-containing protein 2

Gene

RCBTB2

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

Functioni

GO - Molecular functioni

  • Ran guanyl-nucleotide exchange factor activity Source: ProtInc

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

EuPathDBiHostDB:ENSG00000136161.12
HGNCiHGNC:1914 RCBTB2
MIMi603524 gene
neXtProtiNX_O95199

Subcellular locationi

Keywords - Cellular componenti

Cytoplasmic vesicle

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
ProteomicsDBi50707
50708 [O95199-2]

PTM databases

iPTMnetiO95199
PhosphoSitePlusiO95199

Expressioni

Gene expression databases

BgeeiENSG00000136161 Expressed in 216 organ(s), highest expression level in secondary oocyte
CleanExiHS_RCBTB2
ExpressionAtlasiO95199 baseline and differential
GenevisibleiO95199 HS

Organism-specific databases

HPAiHPA040242

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107527, 24 interactors
IntActiO95199, 8 interactors
STRINGi9606.ENSP00000345144

Structurei

3D structure databases

ProteinModelPortaliO95199
SMRiO95199
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Domaini

The BTB domain might play a role in targeting to acrosomal vesicles.By similarity

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1426 Eukaryota
COG5184 LUCA
GeneTreeiENSGT00910000144029
HOVERGENiHBG053261
InParanoidiO95199
KOiK11494
PhylomeDBiO95199
TreeFamiTF329478

Family and domain databases

Gene3Di2.130.10.30, 2 hits
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF00651 BTB, 1 hit
PF00415 RCC1, 4 hits
PRINTSiPR00633 RCCNDNSATION
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF50985 SSF50985, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00626 RCC1_2, 1 hit
PS50012 RCC1_3, 4 hits

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DWG0B4DWG0_HUMAN
cDNA FLJ58545, highly similar to RC...
RCBTB2
556Annotation score:
B4E372B4E372_HUMAN
cDNA FLJ54251, highly similar to RC...
RCBTB2
277Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024758263A → T1 PublicationCorresponds to variant dbSNP:rs9332000Ensembl.1
Natural variantiVAR_024759515C → S1 PublicationCorresponds to variant dbSNP:rs9332075Ensembl.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 No translation available.
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
XP_005266301.1, XM_005266244.2
XP_006719822.1, XM_006719759.3
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

Similar proteinsi

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 No translation available.
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
XP_005266301.1, XM_005266244.2
XP_006719822.1, XM_006719759.3
UniGeneiHs.652712

3D structure databases

ProteinModelPortaliO95199
SMRiO95199
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107527, 24 interactors
IntActiO95199, 8 interactors
STRINGi9606.ENSP00000345144

PTM databases

iPTMnetiO95199
PhosphoSitePlusiO95199

Proteomic databases

EPDiO95199
MaxQBiO95199
PaxDbiO95199
PeptideAtlasiO95199
PRIDEiO95199
ProteomicsDBi50707
50708 [O95199-2]

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
EuPathDBiHostDB:ENSG00000136161.12
GeneCardsiRCBTB2
HGNCiHGNC:1914 RCBTB2
HPAiHPA040242
MIMi603524 gene
neXtProtiNX_O95199
OpenTargetsiENSG00000136161
PharmGKBiPA26450
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1426 Eukaryota
COG5184 LUCA
GeneTreeiENSGT00910000144029
HOVERGENiHBG053261
InParanoidiO95199
KOiK11494
PhylomeDBiO95199
TreeFamiTF329478

Miscellaneous databases

ChiTaRSiRCBTB2 human
GeneWikiiRCBTB2
GenomeRNAii1102
PROiPR:O95199
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136161 Expressed in 216 organ(s), highest expression level in secondary oocyte
CleanExiHS_RCBTB2
ExpressionAtlasiO95199 baseline and differential
GenevisibleiO95199 HS

Family and domain databases

Gene3Di2.130.10.30, 2 hits
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF00651 BTB, 1 hit
PF00415 RCC1, 4 hits
PRINTSiPR00633 RCCNDNSATION
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF50985 SSF50985, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00626 RCC1_2, 1 hit
PS50012 RCC1_3, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiRCBT2_HUMAN
AccessioniPrimary (citable) accession number: O95199
Secondary accession number(s): B2RDW8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: May 1, 1999
Last modified: September 12, 2018
This is version 146 of the entry and version 1 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

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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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