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Protein

BTB/POZ domain-containing protein 8

Gene

BTBD8

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

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein 8
Gene namesi
Name:BTBD8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000189195.9
HGNCiHGNC:21019 BTBD8
neXtProtiNX_Q5XKL5

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

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000189195
PharmGKBiPA134916444

Polymorphism and mutation databases

BioMutaiBTBD8
DMDMi226693502

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002392241 – 378BTB/POZ domain-containing protein 8Add BLAST378

Proteomic databases

PaxDbiQ5XKL5
PeptideAtlasiQ5XKL5
PRIDEiQ5XKL5
ProteomicsDBi65830
65831 [Q5XKL5-2]
TopDownProteomicsiQ5XKL5-2 [Q5XKL5-2]

Expressioni

Tissue specificityi

Highly expressed in fetal brain. Weakly expressed in adult brain and prostate.1 Publication

Developmental stagei

Expressed mainly in fetal tissues.1 Publication

Gene expression databases

BgeeiENSG00000189195 Expressed in 92 organ(s), highest expression level in corpus callosum
CleanExiHS_BTBD8
ExpressionAtlasiQ5XKL5 baseline and differential
GenevisibleiQ5XKL5 HS

Organism-specific databases

HPAiHPA035311
HPA035312

Interactioni

Protein-protein interaction databases

BioGridi129937, 3 interactors
IntActiQ5XKL5, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ5XKL5
SMRiQ5XKL5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini58 – 127BTB 1PROSITE-ProRule annotationAdd BLAST70
Domaini206 – 273BTB 2PROSITE-ProRule annotationAdd BLAST68

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IKQT Eukaryota
ENOG4111F0P LUCA
GeneTreeiENSGT00580000081647
HOGENOMiHOG000095272
HOVERGENiHBG102716
InParanoidiQ5XKL5
KOiK10480
OrthoDBiEOG091G0070
PhylomeDBiQ5XKL5
TreeFamiTF330633

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF00651 BTB, 2 hits
SMARTiView protein in SMART
SM00225 BTB, 2 hits
SUPFAMiSSF54695 SSF54695, 2 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 2 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5XKL5-1) [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
MARCGEGSAA PMVLLGSAGV CSKGLQRKGP CERRRLKATV SEQLSQDLLR
60 70 80 90 100
LLREEFHTDV TFSVGCTLFK AHKAVLLARV PDFYFHTIGQ TSNSLTNQEP
110 120 130 140 150
IAVENVEALE FRTFLQIIYS SNRNIKNYEE EILRKKIMEI GISQKQLDIS
160 170 180 190 200
FPKCENSSDC SLQKHEIPED ISDRDDDFIS NDNYDLEPAS ELGEDLLKLY
210 220 230 240 250
VKPCCPDIDI FVDGKRFKAH RAILSARSSY FAAMLSGCWA ESSQEYVTLQ
260 270 280 290 300
GISHVELNVM MHFIYGGTLD IPDKTNVGQI LNMADMYGLE GLKEVAIYIL
310 320 330 340 350
RRDYCNFFQK PVPRTLTSIL ECLIIAHSVG VESLFADCMK WIVKHFARFW
360 370
SERSFANIPP EIQKSCLNML IQSLVSIT
Length:378
Mass (Da):42,793
Last modified:April 14, 2009 - v2
Checksum:i9265EDA772BB1516
GO
Isoform 2 (identifier: Q5XKL5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     279-305: QILNMADMYGLEGLKEVAIYILRRDYC → YVFLFNNLKYKRVRFCFVELCCKVLMK
     306-378: Missing.

Note: No experimental confirmation available.
Show »
Length:305
Mass (Da):34,643
Checksum:i7CF4F1395442B08A
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTX7A0A1B0GTX7_HUMAN
BTB/POZ domain-containing protein 8
BTBD8
1,354Annotation score:
A0A1B0GUL6A0A1B0GUL6_HUMAN
BTB/POZ domain-containing protein 8
BTBD8
1,792Annotation score:
E9PEZ5E9PEZ5_HUMAN
BTB/POZ domain-containing protein 8
BTBD8
1,409Annotation score:
A0A1B0GWG1A0A1B0GWG1_HUMAN
BTB/POZ domain-containing protein 8
BTBD8
1,279Annotation score:
B4DKD6B4DKD6_HUMAN
cDNA FLJ60117, highly similar to BT...
BTBD8
283Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti204C → G in AAH13922 (PubMed:15489334).Curated1
Sequence conflicti376S → N in AAH13922 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04843660V → I. Corresponds to variant dbSNP:rs34856868Ensembl.1
Natural variantiVAR_033637136K → R. Corresponds to variant dbSNP:rs17131602Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019116279 – 305QILNM…RRDYC → YVFLFNNLKYKRVRFCFVEL CCKVLMK in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_019117306 – 378Missing in isoform 2. 1 PublicationAdd BLAST73

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY346333 mRNA Translation: AAQ24383.1
AC104836 Genomic DNA No translation available.
BC013922 mRNA Translation: AAH13922.1
CCDSiCCDS737.1 [Q5XKL5-1]
RefSeqiNP_899065.2, NM_183242.3 [Q5XKL5-1]
UniGeneiHs.676102

Genome annotation databases

EnsembliENST00000342818; ENSP00000343686; ENSG00000189195 [Q5XKL5-1]
GeneIDi284697
KEGGihsa:284697
UCSCiuc001doo.5 human [Q5XKL5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY346333 mRNA Translation: AAQ24383.1
AC104836 Genomic DNA No translation available.
BC013922 mRNA Translation: AAH13922.1
CCDSiCCDS737.1 [Q5XKL5-1]
RefSeqiNP_899065.2, NM_183242.3 [Q5XKL5-1]
UniGeneiHs.676102

3D structure databases

ProteinModelPortaliQ5XKL5
SMRiQ5XKL5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129937, 3 interactors
IntActiQ5XKL5, 1 interactor

Polymorphism and mutation databases

BioMutaiBTBD8
DMDMi226693502

Proteomic databases

PaxDbiQ5XKL5
PeptideAtlasiQ5XKL5
PRIDEiQ5XKL5
ProteomicsDBi65830
65831 [Q5XKL5-2]
TopDownProteomicsiQ5XKL5-2 [Q5XKL5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342818; ENSP00000343686; ENSG00000189195 [Q5XKL5-1]
GeneIDi284697
KEGGihsa:284697
UCSCiuc001doo.5 human [Q5XKL5-1]

Organism-specific databases

CTDi284697
EuPathDBiHostDB:ENSG00000189195.9
GeneCardsiBTBD8
H-InvDBiHIX0028682
HGNCiHGNC:21019 BTBD8
HPAiHPA035311
HPA035312
neXtProtiNX_Q5XKL5
OpenTargetsiENSG00000189195
PharmGKBiPA134916444
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKQT Eukaryota
ENOG4111F0P LUCA
GeneTreeiENSGT00580000081647
HOGENOMiHOG000095272
HOVERGENiHBG102716
InParanoidiQ5XKL5
KOiK10480
OrthoDBiEOG091G0070
PhylomeDBiQ5XKL5
TreeFamiTF330633

Miscellaneous databases

GenomeRNAii284697
PROiPR:Q5XKL5

Gene expression databases

BgeeiENSG00000189195 Expressed in 92 organ(s), highest expression level in corpus callosum
CleanExiHS_BTBD8
ExpressionAtlasiQ5XKL5 baseline and differential
GenevisibleiQ5XKL5 HS

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF00651 BTB, 2 hits
SMARTiView protein in SMART
SM00225 BTB, 2 hits
SUPFAMiSSF54695 SSF54695, 2 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiBTBD8_HUMAN
AccessioniPrimary (citable) accession number: Q5XKL5
Secondary accession number(s): Q6V9S5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: April 14, 2009
Last modified: November 7, 2018
This is version 116 of the entry and version 2 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 1
    Human chromosome 1: 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
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Main funding by: National Institutes of Health

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