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Protein

RCC1 and BTB domain-containing protein 1

Gene

RCBTB1

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

Functioni

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

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator
Biological processCell 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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Retinal dystrophy with or without extraocular anomalies (RDEOA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency.
See also OMIM:617175
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077962307V → M in RDEOA. 1 PublicationCorresponds to variant dbSNP:rs368217569Ensembl.1
Natural variantiVAR_077963310W → C in RDEOA. 1 PublicationCorresponds to variant dbSNP:rs772592456Ensembl.1
Natural variantiVAR_077964325H → Y in RDEOA. 1 PublicationCorresponds to variant dbSNP:rs200826424Ensembl.1
Natural variantiVAR_077965384H → R in RDEOA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143970072Ensembl.1
Natural variantiVAR_077966388L → F in RDEOA. 1 PublicationCorresponds to variant dbSNP:rs879255547Ensembl.1
Natural variantiVAR_077967401S → L in RDEOA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs556664001Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55213.
MalaCardsiRCBTB1.
MIMi617175. phenotype.
OpenTargetsiENSG00000136144.
PharmGKBiPA134955699.

Polymorphism and mutation databases

BioMutaiRCBTB1.
DMDMi74751227.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002066421 – 531RCC1 and BTB domain-containing protein 1Add BLAST531

Proteomic databases

EPDiQ8NDN9.
MaxQBiQ8NDN9.
PaxDbiQ8NDN9.
PeptideAtlasiQ8NDN9.
PRIDEiQ8NDN9.

PTM databases

iPTMnetiQ8NDN9.
PhosphoSitePlusiQ8NDN9.

Expressioni

Tissue specificityi

Ubiquitously expressed (PubMed:11306461, PubMed:27486781). In the retina, present in the nerve fiber layer and to a lesser extent in the inner and outer plexiform layers (at protein level) (PubMed:27486781).2 Publications

Gene expression databases

BgeeiENSG00000136144.
CleanExiHS_RCBTB1.
GenevisibleiQ8NDN9. HS.

Organism-specific databases

HPAiHPA056783.

Interactioni

Protein-protein interaction databases

BioGridi120509. 16 interactors.
IntActiQ8NDN9. 9 interactors.
MINTiMINT-4718485.
STRINGi9606.ENSP00000258646.

Structurei

3D structure databases

ProteinModelPortaliQ8NDN9.
SMRiQ8NDN9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati40 – 91RCC1 1Add BLAST52
Repeati93 – 145RCC1 2Add BLAST53
Repeati147 – 198RCC1 3Add BLAST52
Repeati199 – 250RCC1 4Add BLAST52
Repeati252 – 302RCC1 5Add BLAST51
Repeati304 – 356RCC1 6Add BLAST53
Domaini370 – 437BTB 1PROSITE-ProRule annotationAdd BLAST68
Domaini470 – 499BTB 2PROSITE-ProRule annotationAdd BLAST30

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00870000136376.
HOGENOMiHOG000065752.
HOVERGENiHBG053261.
InParanoidiQ8NDN9.
KOiK11494.
OMAiFQSHWNE.
OrthoDBiEOG091G043O.
PhylomeDBiQ8NDN9.
TreeFamiTF329478.

Family and domain databases

InterProiView protein in InterPro
IPR000210. BTB/POZ_dom.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR011333. SKP1/BTB/POZ.
PfamiView protein in Pfam
PF00651. BTB. 1 hit.
PF00415. RCC1. 5 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. 5 hits.

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)DescriptionActionsGraphical viewLength
Sequence conflicti118P → T in AAH38104 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02475724A → V4 PublicationsCorresponds to variant dbSNP:rs4942848Ensembl.1
Natural variantiVAR_077962307V → M in RDEOA. 1 PublicationCorresponds to variant dbSNP:rs368217569Ensembl.1
Natural variantiVAR_077963310W → C in RDEOA. 1 PublicationCorresponds to variant dbSNP:rs772592456Ensembl.1
Natural variantiVAR_077964325H → Y in RDEOA. 1 PublicationCorresponds to variant dbSNP:rs200826424Ensembl.1
Natural variantiVAR_077965384H → R in RDEOA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143970072Ensembl.1
Natural variantiVAR_077966388L → F in RDEOA. 1 PublicationCorresponds to variant dbSNP:rs879255547Ensembl.1
Natural variantiVAR_077967401S → L in RDEOA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs556664001Ensembl.1
Natural variantiVAR_024830500T → I1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_040263349 – 355EHEDFLT → VSIVIGK in isoform 2. 1 Publication7
Alternative sequenceiVSP_040264356 – 531Missing in isoform 2. 1 PublicationAdd BLAST176

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

Similar proteinsi

Entry informationi

Entry nameiRCBT1_HUMAN
AccessioniPrimary (citable) accession number: Q8NDN9
Secondary accession number(s): Q8IY29, Q969U9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: October 1, 2002
Last modified: August 30, 2017
This is version 139 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 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