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Protein

BTB/POZ domain-containing protein 10

Gene

BTBD10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

EuPathDBiHostDB:ENSG00000148925.10
HGNCiHGNC:21445 BTBD10
MIMi615933 gene
neXtProtiNX_Q9BSF8

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, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84280
OpenTargetsiENSG00000148925
PharmGKBiPA142672543

Polymorphism and mutation databases

BioMutaiBTBD10
DMDMi74733002

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002289851 – 475BTB/POZ domain-containing protein 10Add BLAST475

Proteomic databases

EPDiQ9BSF8
MaxQBiQ9BSF8
PaxDbiQ9BSF8
PeptideAtlasiQ9BSF8
PRIDEiQ9BSF8
ProteomicsDBi78886

PTM databases

iPTMnetiQ9BSF8
PhosphoSitePlusiQ9BSF8

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 Expressed in 205 organ(s), highest expression level in corpus callosum
CleanExiHS_BTBD10
ExpressionAtlasiQ9BSF8 baseline and differential
GenevisibleiQ9BSF8 HS

Organism-specific databases

HPAiHPA046777

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 interactors
IntActiQ9BSF8, 8 interactors
MINTiQ9BSF8
STRINGi9606.ENSP00000278174

Structurei

3D structure databases

ProteinModelPortaliQ9BSF8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini167 – 241BTBAdd BLAST75

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni146 – 475Interaction with AKT family membersBy similarityAdd BLAST330

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi106 – 142Ser-richAdd BLAST37

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 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 5 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z503B7Z503_HUMAN
BTB (POZ) domain containing 10, iso...
BTBD10 hCG_23555
427Annotation score:
E9PPD8E9PPD8_HUMAN
BTB/POZ domain-containing protein 1...
BTBD10
66Annotation score:
E9PKU9E9PKU9_HUMAN
BTB/POZ domain-containing protein 1...
BTBD10
202Annotation score:
E9PKM7E9PKM7_HUMAN
BTB/POZ domain-containing protein 1...
BTBD10
64Annotation score:
E9PN21E9PN21_HUMAN
BTB/POZ domain-containing protein 1...
BTBD10
36Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033638145T → A. Corresponds to variant dbSNP:rs34185489Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0555521 – 33MAGRP…LYKHS → MPKDADLAFSASLFERAESL YTLISKFFSCFCVSTLAYTK G in isoform 2. 1 PublicationAdd BLAST33

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]
XP_016873897.1, XM_017018408.1
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

Similar proteinsi

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]
XP_016873897.1, XM_017018408.1
UniGeneiHs.332382

3D structure databases

ProteinModelPortaliQ9BSF8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124007, 10 interactors
IntActiQ9BSF8, 8 interactors
MINTiQ9BSF8
STRINGi9606.ENSP00000278174

PTM databases

iPTMnetiQ9BSF8
PhosphoSitePlusiQ9BSF8

Polymorphism and mutation databases

BioMutaiBTBD10
DMDMi74733002

Proteomic databases

EPDiQ9BSF8
MaxQBiQ9BSF8
PaxDbiQ9BSF8
PeptideAtlasiQ9BSF8
PRIDEiQ9BSF8
ProteomicsDBi78886

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
DisGeNETi84280
EuPathDBiHostDB:ENSG00000148925.10
GeneCardsiBTBD10
HGNCiHGNC:21445 BTBD10
HPAiHPA046777
MIMi615933 gene
neXtProtiNX_Q9BSF8
OpenTargetsiENSG00000148925
PharmGKBiPA142672543
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiBTBD10 human
GenomeRNAii84280
PROiPR:Q9BSF8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148925 Expressed in 205 organ(s), highest expression level in corpus callosum
CleanExiHS_BTBD10
ExpressionAtlasiQ9BSF8 baseline and differential
GenevisibleiQ9BSF8 HS

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBTBDA_HUMAN
AccessioniPrimary (citable) accession number: Q9BSF8
Secondary accession number(s): B7Z228, Q86WG1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: November 23, 2004
Last modified: October 10, 2018
This is version 130 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 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. 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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