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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 transcript 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

Complete GO annotation...

Keywords - Biological processi

Neurogenesis

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

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25440.

Polymorphism and mutation databases

DMDMi20137580.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 522522BTB/POZ domain-containing protein 3PRO_0000186211Add
BLAST

Proteomic databases

MaxQBiQ9Y2F9.
PaxDbiQ9Y2F9.
PeptideAtlasiQ9Y2F9.
PRIDEiQ9Y2F9.

PTM databases

iPTMnetiQ9Y2F9.
PhosphoSiteiQ9Y2F9.

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA041424.
HPA042048.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116567. 9 interactions.
IntActiQ9Y2F9. 9 interactions.
STRINGi9606.ENSP00000367471.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2F9.
SMRiQ9Y2F9. Positions 113-292, 376-521.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini120 – 19071BTBPROSITE-ProRule annotationAdd
BLAST
Domaini235 – 30066BACKAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi36 – 438Poly-Ser

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR012983. PHR.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF08005. PHR. 1 hit.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6161Missing in isoform 2. 1 PublicationVSP_041215Add
BLAST

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]
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

Cross-referencesi

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]
UniGeneiHs.709366.

3D structure databases

ProteinModelPortaliQ9Y2F9.
SMRiQ9Y2F9. Positions 113-292, 376-521.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116567. 9 interactions.
IntActiQ9Y2F9. 9 interactions.
STRINGi9606.ENSP00000367471.

PTM databases

iPTMnetiQ9Y2F9.
PhosphoSiteiQ9Y2F9.

Polymorphism and mutation databases

DMDMi20137580.

Proteomic databases

MaxQBiQ9Y2F9.
PaxDbiQ9Y2F9.
PeptideAtlasiQ9Y2F9.
PRIDEiQ9Y2F9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi22903.
GeneCardsiBTBD3.
HGNCiHGNC:15854. BTBD3.
HPAiHPA041424.
HPA042048.
MIMi615566. gene.
neXtProtiNX_Q9Y2F9.
PharmGKBiPA25440.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiBTBD3. human.
GenomeRNAii22903.
PROiQ9Y2F9.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR012983. PHR.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF08005. PHR. 1 hit.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBTBD3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2F9
Secondary accession number(s): D3DW19, Q5JY73
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: November 1, 1999
Last modified: September 7, 2016
This is version 125 of the entry and version 1 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 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
  3. 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.