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Protein

BTB/POZ domain-containing protein 10

Gene

BTBD10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells.By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein 10
Alternative name(s):
Glucose metabolism-related protein 11 Publication
Gene namesi
Name:BTBD10
Synonyms:GMRP11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:21445. BTBD10.

Subcellular locationi

  • Nucleus 1 Publication
  • Cytoplasm By similarity

  • Note: Colocalizes with KCTD20 in filamentous structures.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672543.

Polymorphism and mutation databases

BioMutaiBTBD10.
DMDMi74733002.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 475475BTB/POZ domain-containing protein 10PRO_0000228985Add
BLAST

Proteomic databases

EPDiQ9BSF8.
MaxQBiQ9BSF8.
PaxDbiQ9BSF8.
PeptideAtlasiQ9BSF8.
PRIDEiQ9BSF8.

PTM databases

iPTMnetiQ9BSF8.
PhosphoSiteiQ9BSF8.

Expressioni

Tissue specificityi

Ubiquitously expressed. Highly expressed in adult brain, testis, aorta and small intestine and weakly expressed in the heart, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary and colon. Down-regulated in glioma.2 Publications

Gene expression databases

BgeeiENSG00000148925.
CleanExiHS_BTBD10.
ExpressionAtlasiQ9BSF8. baseline and differential.
GenevisibleiQ9BSF8. HS.

Organism-specific databases

HPAiHPA039403.
HPA046777.

Interactioni

Subunit structurei

Interacts (via C-terminal 330-amino-acid region) with AKT1; AKT2 and AKT3. Interacts with PPP2CA and PPP1CA.By similarity

Protein-protein interaction databases

BioGridi124007. 10 interactions.
IntActiQ9BSF8. 8 interactions.
MINTiMINT-1376480.
STRINGi9606.ENSP00000278174.

Structurei

3D structure databases

ProteinModelPortaliQ9BSF8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini167 – 24175BTBAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni146 – 475330Interaction with AKT family membersBy similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi106 – 14237Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.Curated

Phylogenomic databases

eggNOGiKOG3840. Eukaryota.
ENOG410XSS5. LUCA.
GeneTreeiENSGT00390000007975.
HOGENOMiHOG000261659.
HOVERGENiHBG059410.
InParanoidiQ9BSF8.
KOiK10482.
OMAiFSCFCVS.
OrthoDBiEOG091G05SP.
PhylomeDBiQ9BSF8.
TreeFamiTF314369.

Family and domain databases

InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9BSF8-1) [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
MAGRPHPYDG NSSDPENWDR KLHSRPRKLY KHSSTSSRIA KGGVDHTKMS
60 70 80 90 100
LHGASGGHER SRDRRRSSDR SRDSSHERTE SQLTPCIRNV TSPTRQHHVE
110 120 130 140 150
REKDHSSSRP SSPRPQKASP NGSISSAGNS SRNSSQSSSD GSCKTAGEMV
160 170 180 190 200
FVYENAKEGA RNIRTSERVT LIVDNTRFVV DPSIFTAQPN TMLGRMFGSG
210 220 230 240 250
REHNFTRPNE KGEYEVAEGI GSTVFRAILD YYKTGIIRCP DGISIPELRE
260 270 280 290 300
ACDYLCISFE YSTIKCRDLS ALMHELSNDG ARRQFEFYLE EMILPLMVAS
310 320 330 340 350
AQSGERECHI VVLTDDDVVD WDEEYPPQMG EEYSQIIYST KLYRFFKYIE
360 370 380 390 400
NRDVAKSVLK ERGLKKIRLG IEGYPTYKEK VKKRPGGRPE VIYNYVQRPF
410 420 430 440 450
IRMSWEKEEG KSRHVDFQCV KSKSITNLAA AAADIPQDQL VVMHPTPQVD
460 470
ELDILPIHPP SGNSDLDPDA QNPML
Length:475
Mass (Da):53,779
Last modified:November 23, 2004 - v2
Checksum:i0D6433891EAA33A6
GO
Isoform 2 (identifier: Q9BSF8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: MAGRPHPYDGNSSDPENWDRKLHSRPRKLYKHS → MPKDADLAFSASLFERAESLYTLISKFFSCFCVSTLAYTKG

Note: No experimental confirmation available.
Show »
Length:483
Mass (Da):54,406
Checksum:i60A410E3A24EDA6D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti145 – 1451T → A.
Corresponds to variant rs34185489 [ dbSNP | Ensembl ].
VAR_033638

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3333MAGRP…LYKHS → MPKDADLAFSASLFERAESL YTLISKFFSCFCVSTLAYTK G in isoform 2. 1 PublicationVSP_055552Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY221959 mRNA. Translation: AAO64360.1.
AK294259 mRNA. Translation: BAH11714.1.
AK316163 mRNA. Translation: BAH14534.1.
AL832981 mRNA. Translation: CAH56329.1.
AC016884 Genomic DNA. No translation available.
AC021269 Genomic DNA. No translation available.
BC005071 mRNA. Translation: AAH05071.2.
CCDSiCCDS73261.1. [Q9BSF8-2]
CCDS7811.1. [Q9BSF8-1]
RefSeqiNP_001284671.1. NM_001297742.1. [Q9BSF8-2]
NP_115696.2. NM_032320.6. [Q9BSF8-1]
UniGeneiHs.332382.

Genome annotation databases

EnsembliENST00000278174; ENSP00000278174; ENSG00000148925. [Q9BSF8-1]
ENST00000530907; ENSP00000431186; ENSG00000148925. [Q9BSF8-2]
GeneIDi84280.
KEGGihsa:84280.
UCSCiuc001mkz.4. human. [Q9BSF8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY221959 mRNA. Translation: AAO64360.1.
AK294259 mRNA. Translation: BAH11714.1.
AK316163 mRNA. Translation: BAH14534.1.
AL832981 mRNA. Translation: CAH56329.1.
AC016884 Genomic DNA. No translation available.
AC021269 Genomic DNA. No translation available.
BC005071 mRNA. Translation: AAH05071.2.
CCDSiCCDS73261.1. [Q9BSF8-2]
CCDS7811.1. [Q9BSF8-1]
RefSeqiNP_001284671.1. NM_001297742.1. [Q9BSF8-2]
NP_115696.2. NM_032320.6. [Q9BSF8-1]
UniGeneiHs.332382.

3D structure databases

ProteinModelPortaliQ9BSF8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124007. 10 interactions.
IntActiQ9BSF8. 8 interactions.
MINTiMINT-1376480.
STRINGi9606.ENSP00000278174.

PTM databases

iPTMnetiQ9BSF8.
PhosphoSiteiQ9BSF8.

Polymorphism and mutation databases

BioMutaiBTBD10.
DMDMi74733002.

Proteomic databases

EPDiQ9BSF8.
MaxQBiQ9BSF8.
PaxDbiQ9BSF8.
PeptideAtlasiQ9BSF8.
PRIDEiQ9BSF8.

Protocols and materials databases

DNASUi84280.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278174; ENSP00000278174; ENSG00000148925. [Q9BSF8-1]
ENST00000530907; ENSP00000431186; ENSG00000148925. [Q9BSF8-2]
GeneIDi84280.
KEGGihsa:84280.
UCSCiuc001mkz.4. human. [Q9BSF8-1]

Organism-specific databases

CTDi84280.
GeneCardsiBTBD10.
HGNCiHGNC:21445. BTBD10.
HPAiHPA039403.
HPA046777.
MIMi615933. gene.
neXtProtiNX_Q9BSF8.
PharmGKBiPA142672543.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3840. Eukaryota.
ENOG410XSS5. LUCA.
GeneTreeiENSGT00390000007975.
HOGENOMiHOG000261659.
HOVERGENiHBG059410.
InParanoidiQ9BSF8.
KOiK10482.
OMAiFSCFCVS.
OrthoDBiEOG091G05SP.
PhylomeDBiQ9BSF8.
TreeFamiTF314369.

Miscellaneous databases

ChiTaRSiBTBD10. human.
GenomeRNAii84280.
PROiQ9BSF8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148925.
CleanExiHS_BTBD10.
ExpressionAtlasiQ9BSF8. baseline and differential.
GenevisibleiQ9BSF8. HS.

Family and domain databases

InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiBTBDA_HUMAN
AccessioniPrimary (citable) accession number: Q9BSF8
Secondary accession number(s): B7Z228, Q86WG1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: November 23, 2004
Last modified: September 7, 2016
This is version 118 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 11
    Human chromosome 11: 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
  5. 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.