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Protein

BTB/POZ domain-containing protein 3

Gene

BTBD3

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

Functioni

Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also directs dendrites toward active axon terminals when ectopically expressed (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processNeurogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein 3
Gene namesi
Name:BTBD3
Synonyms:KIAA0952
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15854. BTBD3.

Subcellular locationi

  • Cytoplasmcytosol By similarity
  • Nucleus By similarity

  • Note: Translocates from the cytosol to the nucleus in response to neuronal activity.By similarity

GO - Cellular componenti

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi22903.
OpenTargetsiENSG00000132640.
PharmGKBiPA25440.

Polymorphism and mutation databases

DMDMi20137580.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001862111 – 522BTB/POZ domain-containing protein 3Add BLAST522

Proteomic databases

PaxDbiQ9Y2F9.
PeptideAtlasiQ9Y2F9.
PRIDEiQ9Y2F9.

PTM databases

iPTMnetiQ9Y2F9.
PhosphoSitePlusiQ9Y2F9.

Expressioni

Gene expression databases

BgeeiENSG00000132640.
CleanExiHS_BTBD3.
ExpressionAtlasiQ9Y2F9. baseline and differential.
GenevisibleiQ9Y2F9. HS.

Organism-specific databases

HPAiHPA041424.
HPA042048.

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116567. 9 interactors.
IntActiQ9Y2F9. 17 interactors.
STRINGi9606.ENSP00000367471.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2F9.
SMRiQ9Y2F9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini120 – 190BTBPROSITE-ProRule annotationAdd BLAST71
Domaini235 – 300BACKAdd BLAST66

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi36 – 43Poly-Ser8

Phylogenomic databases

eggNOGiKOG2075. Eukaryota.
ENOG410XQ3X. LUCA.
GeneTreeiENSGT00550000074511.
HOGENOMiHOG000293364.
HOVERGENiHBG050743.
InParanoidiQ9Y2F9.
KOiK10478.
OMAiNMKCLTF.
OrthoDBiEOG091G04LD.
PhylomeDBiQ9Y2F9.
TreeFamiTF106482.

Family and domain databases

InterProiView protein in InterPro
IPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR012983. PHR.
IPR011333. SKP1/BTB/POZ.
PfamiView protein in Pfam
PF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF08005. PHR. 1 hit.
SMARTiView protein in SMART
SM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiView protein in PROSITE
PS50097. BTB. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9Y2F9-1) [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
MVDDKEKNMK CLTFFLMLPE TVKNRSKKSS KKANTSSSSS NSSKLPPVCY
60 70 80 90 100
EIITLKTKKK KMAADIFPRK KPANSSSTSV QQYHQQNLSN NNLIPAPNWQ
110 120 130 140 150
GLYPTIRERN AMMFNNDLMA DVHFVVGPPG GTQRLPGHKY VLAVGSSVFH
160 170 180 190 200
AMFYGELAED KDEIRIPDVE PAAFLAMLKY IYCDEIDLAA DTVLATLYAA
210 220 230 240 250
KKYIVPHLAR ACVNFLETSL SAKNACVLLS QSCLFEEPDL TQRCWEVIDA
260 270 280 290 300
QAELALKSEG FCDIDFQTLE SILRRETLNA KEIVVFEAAL NWAEVECQRQ
310 320 330 340 350
DLALSIENKR KVLGKALYLI RIPTMALDDF ANGAAQSGVL TLNETNDIFL
360 370 380 390 400
WYTAAKKPEL QFVSKARKGL VPQRCHRFQS CAYRSNQWRY RGRCDSIQFA
410 420 430 440 450
VDKRVFIAGF GLYGSSCGSA EYSAKIELKR QGVVLGQNLS KYFSDGSSNT
460 470 480 490 500
FPVWFEYPVQ IEPDTFYTAS VILDGNELSY FGQEGMTEVQ CGKVTVQFQC
510 520
SSDSTNGTGV QGGQIPELIF YA
Length:522
Mass (Da):58,420
Last modified:November 1, 1999 - v1
Checksum:iA5E1359C96FF8919
GO
Isoform 2 (identifier: Q9Y2F9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.

Show »
Length:461
Mass (Da):51,510
Checksum:iD1E29846B6C14940
GO

Sequence cautioni

The sequence BAA76796 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0412151 – 61Missing in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023169 mRNA. Translation: BAA76796.2. Different initiation.
AL035448 Genomic DNA. Translation: CAC22147.1.
AL035448 Genomic DNA. Translation: CAI22619.1.
CH471133 Genomic DNA. Translation: EAX10327.1.
CH471133 Genomic DNA. Translation: EAX10328.1.
BC101527 mRNA. Translation: AAI01528.1.
BC109315 mRNA. Translation: AAI09316.1.
BC109316 mRNA. Translation: AAI09317.1.
CCDSiCCDS13113.1. [Q9Y2F9-1]
CCDS13114.1. [Q9Y2F9-2]
RefSeqiNP_001269479.1. NM_001282550.1. [Q9Y2F9-2]
NP_001269480.1. NM_001282551.1. [Q9Y2F9-2]
NP_055777.1. NM_014962.3. [Q9Y2F9-1]
XP_016883217.1. XM_017027728.1. [Q9Y2F9-2]
XP_016883218.1. XM_017027729.1. [Q9Y2F9-2]
UniGeneiHs.709366.

Genome annotation databases

EnsembliENST00000254977; ENSP00000254977; ENSG00000132640. [Q9Y2F9-2]
ENST00000378226; ENSP00000367471; ENSG00000132640. [Q9Y2F9-1]
ENST00000399006; ENSP00000381971; ENSG00000132640. [Q9Y2F9-2]
ENST00000405977; ENSP00000384545; ENSG00000132640. [Q9Y2F9-1]
ENST00000618296; ENSP00000477589; ENSG00000132640. [Q9Y2F9-2]
ENST00000618918; ENSP00000483520; ENSG00000132640. [Q9Y2F9-2]
GeneIDi22903.
KEGGihsa:22903.
UCSCiuc002wny.5. human. [Q9Y2F9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiBTBD3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2F9
Secondary accession number(s): D3DW19, Q5JY73
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: November 1, 1999
Last modified: August 30, 2017
This is version 131 of the entry and version 1 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 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot