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Protein

RCC1 and BTB domain-containing protein 1

Gene

RCBTB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

May be involved in cell cycle regulation by chromatin remodeling.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Keywords - Biological processi

Cell cycle, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
RCC1 and BTB domain-containing protein 1
Alternative name(s):
Chronic lymphocytic leukemia deletion region gene 7 protein
Short name:
CLL deletion region gene 7 protein
Regulator of chromosome condensation and BTB domain-containing protein 1
Gene namesi
Name:RCBTB1
Synonyms:CLLD7, E4.5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:18243. RCBTB1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

MalaCardsiRCBTB1.
PharmGKBiPA134955699.

Polymorphism and mutation databases

BioMutaiRCBTB1.
DMDMi74751227.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 531531RCC1 and BTB domain-containing protein 1PRO_0000206642Add
BLAST

Proteomic databases

EPDiQ8NDN9.
MaxQBiQ8NDN9.
PaxDbiQ8NDN9.
PeptideAtlasiQ8NDN9.
PRIDEiQ8NDN9.

PTM databases

iPTMnetiQ8NDN9.
PhosphoSiteiQ8NDN9.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000136144.
CleanExiHS_RCBTB1.
GenevisibleiQ8NDN9. HS.

Organism-specific databases

HPAiHPA045925.
HPA056783.

Interactioni

Protein-protein interaction databases

BioGridi120509. 14 interactions.
IntActiQ8NDN9. 9 interactions.
MINTiMINT-4718485.
STRINGi9606.ENSP00000258646.

Structurei

3D structure databases

ProteinModelPortaliQ8NDN9.
SMRiQ8NDN9. Positions 9-314, 356-498.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati40 – 9152RCC1 1Add
BLAST
Repeati93 – 14553RCC1 2Add
BLAST
Repeati147 – 19852RCC1 3Add
BLAST
Repeati199 – 25052RCC1 4Add
BLAST
Repeati252 – 30251RCC1 5Add
BLAST
Repeati304 – 35653RCC1 6Add
BLAST
Domaini370 – 43768BTB 1PROSITE-ProRule annotationAdd
BLAST
Domaini470 – 49930BTB 2PROSITE-ProRule annotationAdd
BLAST

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.
GeneTreeiENSGT00840000129719.
HOGENOMiHOG000065752.
HOVERGENiHBG053261.
InParanoidiQ8NDN9.
KOiK11494.
OMAiAFWQIDG.
OrthoDBiEOG091G043O.
PhylomeDBiQ8NDN9.
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. 5 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. 5 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8NDN9-1) [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
MVDVGKWPIF TLLSPQEIAS IRKACVFGTS ASEALYVTDN DEVFVFGLNY
60 70 80 90 100
SNCLGTGDNQ STLVPKKLEG LCGKKIKSLS YGSGPHVLLS TEDGVVYAWG
110 120 130 140 150
HNGYSQLGNG TTNQGIAPVQ VCTNLLIKQV VEVACGSHHS MALAADGEVF
160 170 180 190 200
AWGYNNCGQV GSGSTANQPT PRKVTNCLHI KRVVGIACGQ TSSMAVLDNG
210 220 230 240 250
EVYGWGYNGN GQLGLGNNGN QLTPVRVAAL HSVCVNQIVC GYAHTLALTD
260 270 280 290 300
EGLLYAWGAN TYGQLGTGNK NNLLSPAHIM VEKERVVEIA ACHSAHTSAA
310 320 330 340 350
KTQGGHVYMW GQCRGQSVIL PHLTHFSCTD DVFACFATPA VSWRLLSVEH
360 370 380 390 400
EDFLTVAESL KKEFDSPETA DLKFRIDGKY IHVHKAVLKI RCEHFRSMFQ
410 420 430 440 450
SYWNEDMKEV IEIDQFSYPV YRAFLQYLYT DTVDLPPEDA IGLLDLATSY
460 470 480 490 500
CENRLKKLCQ HIIKRGITVE NAFSLFSAAV RYDAEDLEEF CFKFCINHLT
510 520 530
EVTQTAAFWQ MDGPLLKEFI AKASKCGAFK N
Length:531
Mass (Da):58,252
Last modified:October 1, 2002 - v1
Checksum:i79CCF6B5C8F75855
GO
Isoform 2 (identifier: Q8NDN9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     349-355: EHEDFLT → VSIVIGK
     356-531: Missing.

Note: No experimental confirmation available.
Show »
Length:355
Mass (Da):37,591
Checksum:i8AE9263537803C86
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti118 – 1181P → T in AAH38104 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241A → V.4 Publications
Corresponds to variant rs4942848 [ dbSNP | Ensembl ].
VAR_024757
Natural varianti500 – 5001T → I.1 Publication
VAR_024830

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei349 – 3557EHEDFLT → VSIVIGK in isoform 2. 1 PublicationVSP_040263
Alternative sequencei356 – 531176Missing in isoform 2. 1 PublicationVSP_040264Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF334406 mRNA. Translation: AAK38372.1.
AJ319660 mRNA. Translation: CAC40027.1.
AK096654 mRNA. Translation: BAC04833.1.
AL833821 mRNA. Translation: CAD38683.1.
AL139321 Genomic DNA. Translation: CAH71047.1.
BC038104 mRNA. Translation: AAH38104.1.
CCDSiCCDS9418.1. [Q8NDN9-1]
RefSeqiNP_060661.3. NM_018191.3. [Q8NDN9-1]
XP_005266498.1. XM_005266441.2. [Q8NDN9-1]
XP_011533435.1. XM_011535133.1. [Q8NDN9-1]
XP_011533436.1. XM_011535134.1. [Q8NDN9-1]
UniGeneiHs.508021.

Genome annotation databases

EnsembliENST00000258646; ENSP00000258646; ENSG00000136144. [Q8NDN9-1]
ENST00000378302; ENSP00000367552; ENSG00000136144. [Q8NDN9-1]
GeneIDi55213.
KEGGihsa:55213.
UCSCiuc001vde.1. human. [Q8NDN9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF334406 mRNA. Translation: AAK38372.1.
AJ319660 mRNA. Translation: CAC40027.1.
AK096654 mRNA. Translation: BAC04833.1.
AL833821 mRNA. Translation: CAD38683.1.
AL139321 Genomic DNA. Translation: CAH71047.1.
BC038104 mRNA. Translation: AAH38104.1.
CCDSiCCDS9418.1. [Q8NDN9-1]
RefSeqiNP_060661.3. NM_018191.3. [Q8NDN9-1]
XP_005266498.1. XM_005266441.2. [Q8NDN9-1]
XP_011533435.1. XM_011535133.1. [Q8NDN9-1]
XP_011533436.1. XM_011535134.1. [Q8NDN9-1]
UniGeneiHs.508021.

3D structure databases

ProteinModelPortaliQ8NDN9.
SMRiQ8NDN9. Positions 9-314, 356-498.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120509. 14 interactions.
IntActiQ8NDN9. 9 interactions.
MINTiMINT-4718485.
STRINGi9606.ENSP00000258646.

PTM databases

iPTMnetiQ8NDN9.
PhosphoSiteiQ8NDN9.

Polymorphism and mutation databases

BioMutaiRCBTB1.
DMDMi74751227.

Proteomic databases

EPDiQ8NDN9.
MaxQBiQ8NDN9.
PaxDbiQ8NDN9.
PeptideAtlasiQ8NDN9.
PRIDEiQ8NDN9.

Protocols and materials databases

DNASUi55213.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258646; ENSP00000258646; ENSG00000136144. [Q8NDN9-1]
ENST00000378302; ENSP00000367552; ENSG00000136144. [Q8NDN9-1]
GeneIDi55213.
KEGGihsa:55213.
UCSCiuc001vde.1. human. [Q8NDN9-1]

Organism-specific databases

CTDi55213.
GeneCardsiRCBTB1.
HGNCiHGNC:18243. RCBTB1.
HPAiHPA045925.
HPA056783.
MalaCardsiRCBTB1.
MIMi607867. gene.
neXtProtiNX_Q8NDN9.
PharmGKBiPA134955699.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00840000129719.
HOGENOMiHOG000065752.
HOVERGENiHBG053261.
InParanoidiQ8NDN9.
KOiK11494.
OMAiAFWQIDG.
OrthoDBiEOG091G043O.
PhylomeDBiQ8NDN9.
TreeFamiTF329478.

Miscellaneous databases

ChiTaRSiRCBTB1. human.
GeneWikiiRCBTB1.
GenomeRNAii55213.
PROiQ8NDN9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136144.
CleanExiHS_RCBTB1.
GenevisibleiQ8NDN9. 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. 5 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. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRCBT1_HUMAN
AccessioniPrimary (citable) accession number: Q8NDN9
Secondary accession number(s): Q8IY29, Q969U9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: October 1, 2002
Last modified: September 7, 2016
This is version 129 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.