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Protein

BTB/POZ domain-containing protein 7

Gene

BTBD7

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

Functioni

Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell-scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000011114-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein 7
Gene namesi
Name:BTBD7
Synonyms:KIAA1525
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:18269. BTBD7.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi55727.
OpenTargetsiENSG00000011114.
ENSG00000277222.
PharmGKBiPA134938971.

Polymorphism and mutation databases

BioMutaiBTBD7.
DMDMi67460591.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00001862152 – 1132BTB/POZ domain-containing protein 7Add BLAST1131

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1
Modified residuei722PhosphoserineCombined sources1
Modified residuei1012PhosphoserineCombined sources1

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDiQ9P203.
MaxQBiQ9P203.
PaxDbiQ9P203.
PeptideAtlasiQ9P203.
PRIDEiQ9P203.

PTM databases

iPTMnetiQ9P203.
PhosphoSitePlusiQ9P203.

Expressioni

Gene expression databases

BgeeiENSG00000011114.
CleanExiHS_BTBD7.
ExpressionAtlasiQ9P203. baseline and differential.
GenevisibleiQ9P203. HS.

Organism-specific databases

HPAiHPA049926.
HPA053406.

Interactioni

Protein-protein interaction databases

BioGridi120847. 2 interactors.
IntActiQ9P203. 1 interactor.
STRINGi9606.ENSP00000335615.

Structurei

3D structure databases

ProteinModelPortaliQ9P203.
SMRiQ9P203.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini142 – 211BTB 1PROSITE-ProRule annotationAdd BLAST70
Domaini247 – 341BTB 2PROSITE-ProRule annotationAdd BLAST95
Domaini413 – 479BACKAdd BLAST67

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi756 – 825Pro-richAdd BLAST70
Compositional biasi849 – 856Poly-Ala8

Sequence similaritiesi

Contains 2 BTB (POZ) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2838. Eukaryota.
ENOG410XP1W. LUCA.
GeneTreeiENSGT00390000014092.
HOVERGENiHBG058828.
InParanoidiQ9P203.
KOiK10479.
OMAiNMLAQGC.
OrthoDBiEOG091G0SOZ.
PhylomeDBiQ9P203.
TreeFamiTF316112.

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 2 hits.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 2 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 3 hits.
PROSITEiPS50097. BTB. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P203-1) [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
MGANASNYPH SCSPRVGGNS QAQQTFIGTS SYSQQGYGCE SKLYSLDHGH
60 70 80 90 100
EKPQDKKKRT SGLATLKKKF IKRRKSNRSA DHAKQMRELL SGWDVRDVNA
110 120 130 140 150
LVEEYEGTSA LKELSLQASL ARPEARTLQK DMADLYEYKY CTDVDLIFQE
160 170 180 190 200
TCFPVHRAIL AARCPFFKTL LSSSPEYGAE IIMDINTAGI DMPMFSALLH
210 220 230 240 250
YLYTGEFGME DSRFQNVDIL VQLSEEFGTP NSLDVDMRGL FDYMCYYDVV
260 270 280 290 300
LSFSSDSELV EAFGGNQNCL DEELKAHKAV ISARSPFFRN LLQRRIRTGE
310 320 330 340 350
EITDRTLRTP TRIILDESII PKKYATVILH CMYTDVVDLS VLHCSPSVGS
360 370 380 390 400
LSEVQALVAG KPNMTRAEEA MELYHIALFL EFNMLAQGCE DIIAESISLD
410 420 430 440 450
TLIAILKWSS HPYGSKWVHR QALHFLCEEF SQVMTSDVFY ELSKDHLLTA
460 470 480 490 500
IQSDYLQASE QDILKYLIKW GEHQLMKRIA DREPNLLSGT AHSVNKRGVK
510 520 530 540 550
RRDLDMEELR EILSSLLPFV RIEHILPINS EVLSDAMKRG LISTPPSDML
560 570 580 590 600
PTTEGGKSNA WLRQKNAGIY VRPRLFSPYV EEAKSVLDEM MVEQTDLVRL
610 620 630 640 650
RMVRMSNVPD TLYMVNNAVP QCCHMISHQQ ISSNQSSPPS VVANEIPVPR
660 670 680 690 700
LLIMKDMVRR LQELRHTEQV QRAYALNCGE GATVSYEIQI RVLREFGLAD
710 720 730 740 750
AAAELLQNPH KFFPDERFGD ESPLLTMRQP GRCRVNSTPP AETMFTDLDS
760 770 780 790 800
FVAFHPPLPP PPPPYHPPAT PIHNQLKAGW KQRPPSQHPS RSFSYPCNHS
810 820 830 840 850
LFHSRTAPKA GPPPVYLPSV KAAPPDCTST AGLGRQTVAA AAATTTSTAT
860 870 880 890 900
AAAAAASEKQ VRTQPVLNDL MPDIAVGVST LSLKDRRLPE LAVDTELSQS
910 920 930 940 950
VSEAGPGPPQ HLSCIPQRHT HTSRKKHTLE QKTDTRENPQ EYPDFYDFSN
960 970 980 990 1000
AACRPSTPAL SRRTPSPSQG GYFGPDLYSH NKASPSGLKS AYLPGQTSPK
1010 1020 1030 1040 1050
KQEEARREYP LSPDGHLHRQ KNEPIHLDVV EQPPQRSDFP LAAPENASTG
1060 1070 1080 1090 1100
PAHVRGRTAV ETDLTFGLTP NRPSLSACSS EAPEERSGRR LADSESLGHG
1110 1120 1130
AQRNTDLERE DSISRGRRSP SKPDFLYKKS AL
Length:1,132
Mass (Da):126,368
Last modified:June 7, 2005 - v3
Checksum:i5C8AA7A8834AD588
GO
Isoform 3 (identifier: Q9P203-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     388-410: GCEDIIAESISLDTLIAILKWSS → EETTVIRPACAAELSNSCLLPQS
     411-1132: Missing.

Show »
Length:410
Mass (Da):46,043
Checksum:iAF393D8C00740623
GO
Isoform 5 (identifier: Q9P203-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-351: Missing.
     352-387: SEVQALVAGKPNMTRAEEAMELYHIALFLEFNMLAQ → MAGGAGAGADGGAGGGGGGGDGSGPSGSSSGGRSLR

Show »
Length:781
Mass (Da):85,546
Checksum:iE876A2E8B17EEEA2
GO

Sequence cautioni

The sequence BAA96049 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB13946 differs from that shown. Probable cloning artifact.Curated
The sequence BAB13946 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH10736 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti313I → V in BAB13946 (PubMed:14702039).Curated1
Sequence conflicti408W → R in BAB13946 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0414811 – 351Missing in isoform 5. 2 PublicationsAdd BLAST351
Alternative sequenceiVSP_041482352 – 387SEVQA…NMLAQ → MAGGAGAGADGGAGGGGGGG DGSGPSGSSSGGRSLR in isoform 5. 2 PublicationsAdd BLAST36
Alternative sequenceiVSP_041483388 – 410GCEDI…LKWSS → EETTVIRPACAAELSNSCLL PQS in isoform 3. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_041487411 – 1132Missing in isoform 3. 2 PublicationsAdd BLAST722

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040958 mRNA. Translation: BAA96049.2. Different initiation.
AK001510 mRNA. Translation: BAA91730.1.
AK021953 mRNA. Translation: BAB13946.1. Sequence problems.
AK291422 mRNA. Translation: BAF84111.1.
AL122023 Genomic DNA. No translation available.
AL132838 Genomic DNA. No translation available.
BC047071 mRNA. Translation: AAH47071.1.
AL049394 mRNA. Translation: CAH10736.1. Sequence problems.
BX248762 mRNA. Translation: CAD66569.1.
CCDSiCCDS32146.1. [Q9P203-1]
CCDS32147.1. [Q9P203-3]
CCDS73684.1. [Q9P203-5]
PIRiJC7757.
RefSeqiNP_001002860.2. NM_001002860.3. [Q9P203-1]
NP_001276062.1. NM_001289133.1. [Q9P203-5]
NP_060637.1. NM_018167.4. [Q9P203-3]
XP_011535241.1. XM_011536939.2. [Q9P203-1]
UniGeneiHs.525549.

Genome annotation databases

EnsembliENST00000298896; ENSP00000298896; ENSG00000011114. [Q9P203-3]
ENST00000334746; ENSP00000335615; ENSG00000011114. [Q9P203-1]
ENST00000554565; ENSP00000451010; ENSG00000011114. [Q9P203-5]
ENST00000613511; ENSP00000481899; ENSG00000277222. [Q9P203-3]
ENST00000613725; ENSP00000479193; ENSG00000277222. [Q9P203-1]
ENST00000627779; ENSP00000486274; ENSG00000277222. [Q9P203-5]
GeneIDi55727.
KEGGihsa:55727.
UCSCiuc001ybo.5. human. [Q9P203-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040958 mRNA. Translation: BAA96049.2. Different initiation.
AK001510 mRNA. Translation: BAA91730.1.
AK021953 mRNA. Translation: BAB13946.1. Sequence problems.
AK291422 mRNA. Translation: BAF84111.1.
AL122023 Genomic DNA. No translation available.
AL132838 Genomic DNA. No translation available.
BC047071 mRNA. Translation: AAH47071.1.
AL049394 mRNA. Translation: CAH10736.1. Sequence problems.
BX248762 mRNA. Translation: CAD66569.1.
CCDSiCCDS32146.1. [Q9P203-1]
CCDS32147.1. [Q9P203-3]
CCDS73684.1. [Q9P203-5]
PIRiJC7757.
RefSeqiNP_001002860.2. NM_001002860.3. [Q9P203-1]
NP_001276062.1. NM_001289133.1. [Q9P203-5]
NP_060637.1. NM_018167.4. [Q9P203-3]
XP_011535241.1. XM_011536939.2. [Q9P203-1]
UniGeneiHs.525549.

3D structure databases

ProteinModelPortaliQ9P203.
SMRiQ9P203.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120847. 2 interactors.
IntActiQ9P203. 1 interactor.
STRINGi9606.ENSP00000335615.

PTM databases

iPTMnetiQ9P203.
PhosphoSitePlusiQ9P203.

Polymorphism and mutation databases

BioMutaiBTBD7.
DMDMi67460591.

Proteomic databases

EPDiQ9P203.
MaxQBiQ9P203.
PaxDbiQ9P203.
PeptideAtlasiQ9P203.
PRIDEiQ9P203.

Protocols and materials databases

DNASUi55727.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298896; ENSP00000298896; ENSG00000011114. [Q9P203-3]
ENST00000334746; ENSP00000335615; ENSG00000011114. [Q9P203-1]
ENST00000554565; ENSP00000451010; ENSG00000011114. [Q9P203-5]
ENST00000613511; ENSP00000481899; ENSG00000277222. [Q9P203-3]
ENST00000613725; ENSP00000479193; ENSG00000277222. [Q9P203-1]
ENST00000627779; ENSP00000486274; ENSG00000277222. [Q9P203-5]
GeneIDi55727.
KEGGihsa:55727.
UCSCiuc001ybo.5. human. [Q9P203-1]

Organism-specific databases

CTDi55727.
DisGeNETi55727.
GeneCardsiBTBD7.
HGNCiHGNC:18269. BTBD7.
HPAiHPA049926.
HPA053406.
MIMi610386. gene.
neXtProtiNX_Q9P203.
OpenTargetsiENSG00000011114.
ENSG00000277222.
PharmGKBiPA134938971.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2838. Eukaryota.
ENOG410XP1W. LUCA.
GeneTreeiENSGT00390000014092.
HOVERGENiHBG058828.
InParanoidiQ9P203.
KOiK10479.
OMAiNMLAQGC.
OrthoDBiEOG091G0SOZ.
PhylomeDBiQ9P203.
TreeFamiTF316112.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000011114-MONOMER.

Miscellaneous databases

ChiTaRSiBTBD7. human.
GenomeRNAii55727.
PROiQ9P203.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000011114.
CleanExiHS_BTBD7.
ExpressionAtlasiQ9P203. baseline and differential.
GenevisibleiQ9P203. HS.

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 2 hits.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 2 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 3 hits.
PROSITEiPS50097. BTB. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBTBD7_HUMAN
AccessioniPrimary (citable) accession number: Q9P203
Secondary accession number(s): A8K5V7
, Q69Z05, Q7Z308, Q86TS0, Q9HAA4, Q9NVM0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: June 7, 2005
Last modified: November 2, 2016
This is version 118 of the entry and version 3 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 14
    Human chromosome 14: 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.