Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

BTB/POZ domain-containing protein 8

Gene

BTBD8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

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

HGNCiHGNC:21019. BTBD8.

Subcellular locationi

  • Nucleus 1 Publication

  • Note: Localized to nucleus in fetal cells.

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134916444.

Polymorphism and mutation databases

BioMutaiBTBD8.
DMDMi226693502.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 378378BTB/POZ domain-containing protein 8PRO_0000239224Add
BLAST

Proteomic databases

PaxDbiQ5XKL5.
PRIDEiQ5XKL5.
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

BgeeiQ5XKL5.
CleanExiHS_BTBD8.
GenevisibleiQ5XKL5. HS.

Organism-specific databases

HPAiHPA035311.
HPA035312.

Interactioni

Protein-protein interaction databases

BioGridi129937. 2 interactions.
IntActiQ5XKL5. 1 interaction.
STRINGi9606.ENSP00000343686.

Structurei

3D structure databases

ProteinModelPortaliQ5XKL5.
SMRiQ5XKL5. Positions 188-359.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini58 – 12770BTB 1PROSITE-ProRule annotationAdd
BLAST
Domaini206 – 27368BTB 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 BTB (POZ) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IKQT. Eukaryota.
ENOG4111F0P. LUCA.
GeneTreeiENSGT00510000048686.
HOGENOMiHOG000095272.
HOVERGENiHBG102716.
InParanoidiQ5XKL5.
KOiK10480.
OMAiCPDIDIF.
OrthoDBiEOG7Q2N4F.
PhylomeDBiQ5XKL5.
TreeFamiTF330633.

Family and domain databases

InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF00651. BTB. 2 hits.
[Graphical view]
SMARTiSM00225. BTB. 2 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 2 hits.
PROSITEiPS50097. BTB. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti204 – 2041C → G in AAH13922 (PubMed:15489334).Curated
Sequence conflicti376 – 3761S → N in AAH13922 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601V → I.
Corresponds to variant rs34856868 [ dbSNP | Ensembl ].
VAR_048436
Natural varianti136 – 1361K → R.
Corresponds to variant rs17131602 [ dbSNP | Ensembl ].
VAR_033637

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei279 – 30527QILNM…RRDYC → YVFLFNNLKYKRVRFCFVEL CCKVLMK in isoform 2. 1 PublicationVSP_019116Add
BLAST
Alternative sequencei306 – 37873Missing in isoform 2. 1 PublicationVSP_019117Add
BLAST

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]
ENST00000370382; ENSP00000359408; ENSG00000189195. [Q5XKL5-2]
GeneIDi284697.
KEGGihsa:284697.
UCSCiuc001doo.5. human. [Q5XKL5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Positions 188-359.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129937. 2 interactions.
IntActiQ5XKL5. 1 interaction.
STRINGi9606.ENSP00000343686.

Polymorphism and mutation databases

BioMutaiBTBD8.
DMDMi226693502.

Proteomic databases

PaxDbiQ5XKL5.
PRIDEiQ5XKL5.
TopDownProteomicsiQ5XKL5-2. [Q5XKL5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342818; ENSP00000343686; ENSG00000189195. [Q5XKL5-1]
ENST00000370382; ENSP00000359408; ENSG00000189195. [Q5XKL5-2]
GeneIDi284697.
KEGGihsa:284697.
UCSCiuc001doo.5. human. [Q5XKL5-1]

Organism-specific databases

CTDi284697.
GeneCardsiBTBD8.
H-InvDBHIX0028682.
HGNCiHGNC:21019. BTBD8.
HPAiHPA035311.
HPA035312.
neXtProtiNX_Q5XKL5.
PharmGKBiPA134916444.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKQT. Eukaryota.
ENOG4111F0P. LUCA.
GeneTreeiENSGT00510000048686.
HOGENOMiHOG000095272.
HOVERGENiHBG102716.
InParanoidiQ5XKL5.
KOiK10480.
OMAiCPDIDIF.
OrthoDBiEOG7Q2N4F.
PhylomeDBiQ5XKL5.
TreeFamiTF330633.

Miscellaneous databases

GenomeRNAii284697.
NextBioi95064.
PROiQ5XKL5.

Gene expression databases

BgeeiQ5XKL5.
CleanExiHS_BTBD8.
GenevisibleiQ5XKL5. HS.

Family and domain databases

InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF00651. BTB. 2 hits.
[Graphical view]
SMARTiSM00225. BTB. 2 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 2 hits.
PROSITEiPS50097. BTB. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of a novel DBTB gene containing a double BTB domain."
    He T., Xu J., Xie Y., Mao Y.
    Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Bone marrow.
  4. "Molecular cloning and characterization of a novel human BTBD8 gene containing double BTB/POZ domains."
    Xu J., He T., Wang L., Wu Q., Zhao E., Wu M., Dou T., Ji C., Gu S., Yin K., Xie Y., Mao Y.
    Int. J. Mol. Med. 13:193-197(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

Entry informationi

Entry nameiBTBD8_HUMAN
AccessioniPrimary (citable) accession number: Q5XKL5
Secondary accession number(s): Q6V9S5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: April 14, 2009
Last modified: March 16, 2016
This is version 98 of the entry and version 2 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 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
  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.