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Protein

BTB/POZ domain-containing protein 1

Gene

BTBD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.1 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

Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

BioCyciZFISH:ENSG00000064726-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
UniPathwayiUPA00143.

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

HGNCiHGNC:1120. BTBD1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasmic mRNA processing body Source: UniProtKB
  • protein complex Source: LIFEdb
  • SCF ubiquitin ligase complex Source: GO_Central
Complete GO annotation...

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.
TopDownProteomicsiQ9H0C5-1. [Q9H0C5-1]

PTM databases

iPTMnetiQ9H0C5.
PhosphoSitePlusiQ9H0C5.

Expressioni

Tissue specificityi

Ubiquitous; higher levels in heart and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000064726.
CleanExiHS_BTBD1.
ExpressionAtlasiQ9H0C5. baseline and differential.
GenevisibleiQ9H0C5. HS.

Organism-specific databases

HPAiHPA067671.

Interactioni

Subunit structurei

Interacts with topoisomerase 1 and with TRIM5 isoform Delta. Interacts with CUL3.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119740. 50 interactors.
IntActiQ9H0C5. 14 interactors.
MINTiMINT-4716638.
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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi25 – 31Poly-Pro7

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR012983. PHR.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF08005. PHR. 1 hit.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9H0C5.
SMRiQ9H0C5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119740. 50 interactors.
IntActiQ9H0C5. 14 interactors.
MINTiMINT-4716638.
STRINGi9606.ENSP00000261721.

PTM databases

iPTMnetiQ9H0C5.
PhosphoSitePlusiQ9H0C5.

Polymorphism and mutation databases

BioMutaiBTBD1.
DMDMi20137477.

Proteomic databases

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

Protocols and materials databases

DNASUi53339.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi53339.
DisGeNETi53339.
GeneCardsiBTBD1.
HGNCiHGNC:1120. BTBD1.
HPAiHPA067671.
MIMi608530. gene.
neXtProtiNX_Q9H0C5.
OpenTargetsiENSG00000064726.
PharmGKBiPA25438.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00143.
BioCyciZFISH:ENSG00000064726-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Miscellaneous databases

ChiTaRSiBTBD1. human.
GeneWikiiBTBD1.
GenomeRNAii53339.
PROiQ9H0C5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000064726.
CleanExiHS_BTBD1.
ExpressionAtlasiQ9H0C5. baseline and differential.
GenevisibleiQ9H0C5. HS.

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR012983. PHR.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF08005. PHR. 1 hit.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBTBD1_HUMAN
AccessioniPrimary (citable) accession number: Q9H0C5
Secondary accession number(s): A6NMI8, Q9BX71, Q9NWN4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 141 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 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. 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.