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Protein

BTB/POZ domain-containing protein 1

Gene

BTBD1

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

Functioni

Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism. May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity).By similarity1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDifferentiation, Myogenesis, Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
UniPathwayi
UPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein 1
Alternative name(s):
Hepatitis C virus NS5A-transactivated protein 8
Short name:
HCV NS5A-transactivated protein 8
Gene namesi
Name:BTBD1
Synonyms:C15orf1, NS5ATP8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000064726.9
HGNCiHGNC:1120 BTBD1
MIMi608530 gene
neXtProtiNX_Q9H0C5

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

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi53339
OpenTargetsiENSG00000064726
PharmGKBiPA25438

Polymorphism and mutation databases

BioMutaiBTBD1
DMDMi20137477

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001862081 – 482BTB/POZ domain-containing protein 1Add BLAST482

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei79Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation

Proteomic databases

EPDiQ9H0C5
MaxQBiQ9H0C5
PaxDbiQ9H0C5
PeptideAtlasiQ9H0C5
PRIDEiQ9H0C5
ProteomicsDBi80253
TopDownProteomicsiQ9H0C5-1 [Q9H0C5-1]

PTM databases

iPTMnetiQ9H0C5
PhosphoSitePlusiQ9H0C5

Expressioni

Tissue specificityi

Ubiquitous; highest levels in testes, heart and skeletal muscle.2 Publications

Gene expression databases

BgeeiENSG00000064726 Expressed in 239 organ(s), highest expression level in quadriceps femoris
CleanExiHS_BTBD1
ExpressionAtlasiQ9H0C5 baseline and differential
GenevisibleiQ9H0C5 HS

Organism-specific databases

HPAiHPA067671

Interactioni

Subunit structurei

Interacts (via C-terminus) with TOP1 (PubMed:11818025). Interacts with TRIM5 isoform Delta (PubMed:12878161). Interacts with CUL3 (PubMed:14528312).3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
E2P031203EBI-935503,EBI-1779322From Human papillomavirus type 16.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119740, 61 interactors
IntActiQ9H0C5, 15 interactors
MINTiQ9H0C5
STRINGi9606.ENSP00000261721

Structurei

3D structure databases

ProteinModelPortaliQ9H0C5
SMRiQ9H0C5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini69 – 145BTBPROSITE-ProRule annotationAdd BLAST77
Domaini184 – 284BACKSequence analysisAdd BLAST101

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi25 – 31Poly-ProSequence analysis7

Phylogenomic databases

eggNOGiKOG2075 Eukaryota
ENOG410XQ3X LUCA
GeneTreeiENSGT00550000074511
HOGENOMiHOG000293364
HOVERGENiHBG050743
InParanoidiQ9H0C5
KOiK10477
OMAiRIRFNVN
OrthoDBiEOG091G04LD
PhylomeDBiQ9H0C5
TreeFamiTF106482

Family and domain databases

Gene3Di2.60.120.820, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR000210 BTB/POZ_dom
IPR012983 PHR
IPR038648 PHR_sf
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF08005 PHR, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

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 1 potential isoform that is computationally mapped.iShow all

Isoform 1 (identifier: Q9H0C5-1) [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
MASLGPAAAG EQASGAEAEP GPAGPPPPPS PSSLGPLLPL QREPLYNWQA
60 70 80 90 100
TKASLKERFA FLFNSELLSD VRFVLGKGRG AAAAGGPQRI PAHRFVLAAG
110 120 130 140 150
SAVFDAMFNG GMATTSAEIE LPDVEPAAFL ALLRFLYSDE VQIGPETVMT
160 170 180 190 200
TLYTAKKYAV PALEAHCVEF LTKHLRADNA FMLLTQARLF DEPQLASLCL
210 220 230 240 250
DTIDKSTMDA ISAEGFTDID IDTLCAVLER DTLSIRESRL FGAVVRWAEA
260 270 280 290 300
ECQRQQLPVT FGNKQKVLGK ALSLIRFPLM TIEEFAAGPA QSGILSDREV
310 320 330 340 350
VNLFLHFTVN PKPRVEYIDR PRCCLRGKEC CINRFQQVES RWGYSGTSDR
360 370 380 390 400
IRFTVNRRIS IVGFGLYGSI HGPTDYQVNI QIIEYEKKQT LGQNDTGFSC
410 420 430 440 450
DGTANTFRVM FKEPIEILPN VCYTACATLK GPDSHYGTKG LKKVVHETPA
460 470 480
ASKTVFFFFS SPGNNNGTSI EDGQIPEIIF YT
Length:482
Mass (Da):52,771
Last modified:March 1, 2001 - v1
Checksum:i525A49E01728AFF0
GO
Isoform 2 (identifier: Q9H0C5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     353-386: FTVNRRISIVGFGLYGSIHGPTDYQVNIQIIEYE → SLNMRKSKPWDRMIPALVVMGQLTHSGSCSRNP
     387-482: Missing.

Note: Gene prediction based on EST data.
Show »
Length:385
Mass (Da):42,117
Checksum:i8630C1107EFDA4E3
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YL89H0YL89_HUMAN
BTB/POZ domain-containing protein 1
BTBD1
37Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti406T → A in BAA91345 (PubMed:14702039).Curated1
Sequence conflicti422C → G in AAK25825 (PubMed:11818025).Curated1
Sequence conflicti429L → P in BAA91345 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047146353 – 386FTVNR…IIEYE → SLNMRKSKPWDRMIPALVVM GQLTHSGSCSRNP in isoform 2. CuratedAdd BLAST34
Alternative sequenceiVSP_047147387 – 482Missing in isoform 2. CuratedAdd BLAST96

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136853 mRNA Translation: CAB66787.1
AF355402 mRNA Translation: AAK25825.1
AF257241 mRNA Translation: AAK17068.1
AK000731 mRNA Translation: BAA91345.1
AF529369 mRNA Translation: AAQ09603.1
AC022558 Genomic DNA No translation available.
AC024270 Genomic DNA No translation available.
BC028097 mRNA Translation: AAH28097.1
CCDSiCCDS10322.1 [Q9H0C5-1]
CCDS32313.1 [Q9H0C5-2]
RefSeqiNP_001011885.1, NM_001011885.1 [Q9H0C5-2]
NP_079514.1, NM_025238.3 [Q9H0C5-1]
UniGeneiHs.459149

Genome annotation databases

EnsembliENST00000261721; ENSP00000261721; ENSG00000064726 [Q9H0C5-1]
ENST00000379403; ENSP00000368713; ENSG00000064726 [Q9H0C5-2]
GeneIDi53339
KEGGihsa:53339
UCSCiuc002bjn.4 human [Q9H0C5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiBTBD1_HUMAN
AccessioniPrimary (citable) accession number: Q9H0C5
Secondary accession number(s): A6NMI8, Q9BX71, Q9NWN4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: September 12, 2018
This is version 156 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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