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Q9P203 (BTBD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
BTB/POZ domain-containing protein 7
Gene names
Name:BTBD7
Synonyms:KIAA1525
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1132 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus By similarity.

Sequence similarities

Contains 1 BACK (BTB/Kelch associated) domain.

Contains 2 BTB (POZ) domains.

Sequence caution

The sequence BAA96049.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAB13946.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB13946.1 differs from that shown. Reason: Probable cloning artifact.

The sequence CAH10736.1 differs from that shown. Reason: Probable cloning artifact.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DomainRepeat
   Molecular functionDevelopmental protein
   PTMLipoprotein
Myristate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmulticellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of branching involved in salivary gland morphogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P203-1)

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.
Isoform 3 (identifier: Q9P203-3)

The sequence of this isoform differs from the canonical sequence as follows:
     388-410: GCEDIIAESISLDTLIAILKWSS → EETTVIRPACAAELSNSCLLPQS
     411-1132: Missing.
Isoform 5 (identifier: Q9P203-5)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed
Chain2 – 11321131BTB/POZ domain-containing protein 7
PRO_0000186215

Regions

Domain142 – 21170BTB 1
Domain247 – 34195BTB 2
Domain413 – 47967BACK
Compositional bias756 – 82570Pro-rich
Compositional bias849 – 8568Poly-Ala

Amino acid modifications

Lipidation21N-myristoyl glycine Ref.7

Natural variations

Alternative sequence1 – 351351Missing in isoform 5.
VSP_041481
Alternative sequence352 – 38736SEVQA…NMLAQ → MAGGAGAGADGGAGGGGGGG DGSGPSGSSSGGRSLR in isoform 5.
VSP_041482
Alternative sequence388 – 41023GCEDI…LKWSS → EETTVIRPACAAELSNSCLL PQS in isoform 3.
VSP_041483
Alternative sequence411 – 1132722Missing in isoform 3.
VSP_041487

Experimental info

Sequence conflict3131I → V in BAB13946. Ref.2
Sequence conflict4081W → R in BAB13946. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 7, 2005. Version 3.
Checksum: 5C8AA7A8834AD588

FASTA1,132126,368
        10         20         30         40         50         60 
MGANASNYPH SCSPRVGGNS QAQQTFIGTS SYSQQGYGCE SKLYSLDHGH EKPQDKKKRT 

        70         80         90        100        110        120 
SGLATLKKKF IKRRKSNRSA DHAKQMRELL SGWDVRDVNA LVEEYEGTSA LKELSLQASL 

       130        140        150        160        170        180 
ARPEARTLQK DMADLYEYKY CTDVDLIFQE TCFPVHRAIL AARCPFFKTL LSSSPEYGAE 

       190        200        210        220        230        240 
IIMDINTAGI DMPMFSALLH YLYTGEFGME DSRFQNVDIL VQLSEEFGTP NSLDVDMRGL 

       250        260        270        280        290        300 
FDYMCYYDVV LSFSSDSELV EAFGGNQNCL DEELKAHKAV ISARSPFFRN LLQRRIRTGE 

       310        320        330        340        350        360 
EITDRTLRTP TRIILDESII PKKYATVILH CMYTDVVDLS VLHCSPSVGS LSEVQALVAG 

       370        380        390        400        410        420 
KPNMTRAEEA MELYHIALFL EFNMLAQGCE DIIAESISLD TLIAILKWSS HPYGSKWVHR 

       430        440        450        460        470        480 
QALHFLCEEF SQVMTSDVFY ELSKDHLLTA IQSDYLQASE QDILKYLIKW GEHQLMKRIA 

       490        500        510        520        530        540 
DREPNLLSGT AHSVNKRGVK RRDLDMEELR EILSSLLPFV RIEHILPINS EVLSDAMKRG 

       550        560        570        580        590        600 
LISTPPSDML PTTEGGKSNA WLRQKNAGIY VRPRLFSPYV EEAKSVLDEM MVEQTDLVRL 

       610        620        630        640        650        660 
RMVRMSNVPD TLYMVNNAVP QCCHMISHQQ ISSNQSSPPS VVANEIPVPR LLIMKDMVRR 

       670        680        690        700        710        720 
LQELRHTEQV QRAYALNCGE GATVSYEIQI RVLREFGLAD AAAELLQNPH KFFPDERFGD 

       730        740        750        760        770        780 
ESPLLTMRQP GRCRVNSTPP AETMFTDLDS FVAFHPPLPP PPPPYHPPAT PIHNQLKAGW 

       790        800        810        820        830        840 
KQRPPSQHPS RSFSYPCNHS LFHSRTAPKA GPPPVYLPSV KAAPPDCTST AGLGRQTVAA 

       850        860        870        880        890        900 
AAATTTSTAT AAAAAASEKQ VRTQPVLNDL MPDIAVGVST LSLKDRRLPE LAVDTELSQS 

       910        920        930        940        950        960 
VSEAGPGPPQ HLSCIPQRHT HTSRKKHTLE QKTDTRENPQ EYPDFYDFSN AACRPSTPAL 

       970        980        990       1000       1010       1020 
SRRTPSPSQG GYFGPDLYSH NKASPSGLKS AYLPGQTSPK KQEEARREYP LSPDGHLHRQ 

      1030       1040       1050       1060       1070       1080 
KNEPIHLDVV EQPPQRSDFP LAAPENASTG PAHVRGRTAV ETDLTFGLTP NRPSLSACSS 

      1090       1100       1110       1120       1130 
EAPEERSGRR LADSESLGHG AQRNTDLERE DSISRGRRSP SKPDFLYKKS AL 

« Hide

Isoform 3 [UniParc].

Checksum: AF393D8C00740623
Show »

FASTA41046,043
Isoform 5 [UniParc].

Checksum: E876A2E8B17EEEA2
Show »

FASTA78185,546

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 135-536 (ISOFORM 1).
Tissue: Brain.
[3]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Testis.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 457-536 (ISOFORM 1).
Tissue: Amygdala.
[6]"Full-length cDNA libraries and normalization."
Li W.B., Gruber C., Jessee J., Polayes D.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-938 (ISOFORM 5).
Tissue: Neuroblastoma.
[7]"Strategy for comprehensive identification of human N-myristoylated proteins using an insect cell-free protein synthesis system."
Suzuki T., Moriya K., Nagatoshi K., Ota Y., Ezure T., Ando E., Tsunasawa S., Utsumi T.
Proteomics 10:1780-1793(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: MYRISTOYLATION AT GLY-2.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32146.1. [Q9P203-1]
CCDS32147.1. [Q9P203-3]
PIRJC7757.
RefSeqNP_001002860.2. NM_001002860.3. [Q9P203-1]
NP_001276062.1. NM_001289133.1. [Q9P203-5]
NP_060637.1. NM_018167.4. [Q9P203-3]
XP_006720258.1. XM_006720195.1. [Q9P203-1]
XP_006725229.1. XM_006725166.1. [Q9P203-1]
UniGeneHs.525549.

3D structure databases

ProteinModelPortalQ9P203.
SMRQ9P203. Positions 124-213.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120847. 3 interactions.
STRING9606.ENSP00000335615.

PTM databases

PhosphoSiteQ9P203.

Polymorphism databases

DMDM67460591.

Proteomic databases

MaxQBQ9P203.
PaxDbQ9P203.
PRIDEQ9P203.

Protocols and materials databases

DNASU55727.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000298896; ENSP00000298896; ENSG00000011114. [Q9P203-3]
ENST00000334746; ENSP00000335615; ENSG00000011114. [Q9P203-1]
ENST00000554565; ENSP00000451010; ENSG00000011114. [Q9P203-5]
GeneID55727.
KEGGhsa:55727.
UCSCuc001ybo.3. human. [Q9P203-1]
uc001ybp.3. human. [Q9P203-5]
uc001ybq.4. human. [Q9P203-3]

Organism-specific databases

CTD55727.
GeneCardsGC14M093703.
HGNCHGNC:18269. BTBD7.
HPAHPA049926.
MIM610386. gene.
neXtProtNX_Q9P203.
PharmGKBPA134938971.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293531.
HOVERGENHBG058828.
InParanoidQ9P203.
KOK10479.
OMANMLAQGC.
OrthoDBEOG7XWPNJ.
PhylomeDBQ9P203.
TreeFamTF316112.

Gene expression databases

ArrayExpressQ9P203.
BgeeQ9P203.
CleanExHS_BTBD7.
GenevestigatorQ9P203.

Family and domain databases

Gene3D3.30.710.10. 2 hits.
InterProIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
[Graphical view]
PfamPF07707. BACK. 1 hit.
PF00651. BTB. 2 hits.
[Graphical view]
SMARTSM00875. BACK. 1 hit.
SM00225. BTB. 2 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 3 hits.
PROSITEPS50097. BTB. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBTBD7. human.
GenomeRNAi55727.
NextBio60639.
PROQ9P203.
SOURCESearch...

Entry information

Entry nameBTBD7_HUMAN
AccessionPrimary (citable) accession number: Q9P203
Secondary accession number(s): A8K5V7 expand/collapse secondary AC list , Q69Z05, Q7Z308, Q86TS0, Q9HAA4, Q9NVM0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: June 7, 2005
Last modified: July 9, 2014
This is version 97 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM