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Protein

BTB/POZ domain-containing protein 3

Gene

BTBD3

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

  • cerebral cortex development Source: UniProtKB
  • dendrite morphogenesis Source: UniProtKB
  • neurogenesis Source: GO_Central

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

EuPathDBiHostDB:ENSG00000132640.14
HGNCiHGNC:15854 BTBD3
MIMi615566 gene
neXtProtiNX_Q9Y2F9

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

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

EPDiQ9Y2F9
PaxDbiQ9Y2F9
PeptideAtlasiQ9Y2F9
PRIDEiQ9Y2F9
ProteomicsDBi85754
85755 [Q9Y2F9-2]

PTM databases

iPTMnetiQ9Y2F9
PhosphoSitePlusiQ9Y2F9

Expressioni

Gene expression databases

BgeeiENSG00000132640 Expressed in 233 organ(s), highest expression level in cerebellar vermis
CleanExiHS_BTBD3
ExpressionAtlasiQ9Y2F9 baseline and differential
GenevisibleiQ9Y2F9 HS

Organism-specific databases

HPAiHPA041424
HPA042048

Interactioni

Protein-protein interaction databases

BioGridi116567, 10 interactors
IntActiQ9Y2F9, 19 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
OMAiGADHNIQ
OrthoDBiEOG091G04LD
PhylomeDBiQ9Y2F9
TreeFamiTF106482

Family and domain databases

Gene3Di2.60.120.820, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR000210 BTB/POZ_dom
IPR012983 PHR
IPR038648 PHR_sf
IPR011333 SKP1/BTB/POZ_sf
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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B0QYR0B0QYR0_HUMAN
BTB/POZ domain-containing protein 3
BTBD3
99Annotation score:
B0QYR1B0QYR1_HUMAN
BTB/POZ domain-containing protein 3
BTBD3
139Annotation score:
B0QYQ9B0QYQ9_HUMAN
BTB/POZ domain-containing protein 3
BTBD3
135Annotation score:
F8WAQ4F8WAQ4_HUMAN
BTB/POZ domain-containing protein 3
BTBD3
50Annotation score:

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 No translation available.
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
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023169 mRNA Translation: BAA76796.2 Different initiation.
AL035448 Genomic DNA No translation available.
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
UniGeneiHs.709366

3D structure databases

ProteinModelPortaliQ9Y2F9
SMRiQ9Y2F9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116567, 10 interactors
IntActiQ9Y2F9, 19 interactors
STRINGi9606.ENSP00000367471

PTM databases

iPTMnetiQ9Y2F9
PhosphoSitePlusiQ9Y2F9

Polymorphism and mutation databases

DMDMi20137580

Proteomic databases

EPDiQ9Y2F9
PaxDbiQ9Y2F9
PeptideAtlasiQ9Y2F9
PRIDEiQ9Y2F9
ProteomicsDBi85754
85755 [Q9Y2F9-2]

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
DisGeNETi22903
EuPathDBiHostDB:ENSG00000132640.14
GeneCardsiBTBD3
HGNCiHGNC:15854 BTBD3
HPAiHPA041424
HPA042048
MIMi615566 gene
neXtProtiNX_Q9Y2F9
OpenTargetsiENSG00000132640
PharmGKBiPA25440
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiBTBD3 human
GenomeRNAii22903
PROiPR:Q9Y2F9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132640 Expressed in 233 organ(s), highest expression level in cerebellar vermis
CleanExiHS_BTBD3
ExpressionAtlasiQ9Y2F9 baseline and differential
GenevisibleiQ9Y2F9 HS

Family and domain databases

Gene3Di2.60.120.820, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR000210 BTB/POZ_dom
IPR012983 PHR
IPR038648 PHR_sf
IPR011333 SKP1/BTB/POZ_sf
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
ProtoNetiSearch...

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: November 7, 2018
This is version 141 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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