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Protein

Kelch repeat and BTB domain-containing protein 2

Gene

KBTBD2

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

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch repeat and BTB domain-containing protein 2
Alternative name(s):
BTB and kelch domain-containing protein 1
Gene namesi
Name:KBTBD2
Synonyms:BKLHD1, KIAA1489
ORF Names:CGI-73
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:21751. KBTBD2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134892896.

Polymorphism and mutation databases

BioMutaiKBTBD2.
DMDMi33301029.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 623623Kelch repeat and BTB domain-containing protein 2PRO_0000119077Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei300 – 3001PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8IY47.
MaxQBiQ8IY47.
PaxDbiQ8IY47.
PeptideAtlasiQ8IY47.
PRIDEiQ8IY47.

PTM databases

iPTMnetiQ8IY47.
PhosphoSiteiQ8IY47.

Expressioni

Gene expression databases

BgeeiQ8IY47.
CleanExiHS_KBTBD2.
ExpressionAtlasiQ8IY47. baseline and differential.
GenevisibleiQ8IY47. HS.

Organism-specific databases

HPAiHPA021133.

Interactioni

Protein-protein interaction databases

BioGridi117443. 5 interactions.
STRINGi9606.ENSP00000302586.

Structurei

3D structure databases

ProteinModelPortaliQ8IY47.
SMRiQ8IY47. Positions 27-204, 259-561.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini31 – 9868BTBPROSITE-ProRule annotationAdd
BLAST
Repeati317 – 38064Kelch 1Add
BLAST
Repeati381 – 42949Kelch 2Add
BLAST
Repeati431 – 46939Kelch 3Add
BLAST
Repeati470 – 52960Kelch 4Add
BLAST
Repeati535 – 58147Kelch 5Add
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 5 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00840000129730.
HOGENOMiHOG000004807.
HOVERGENiHBG052211.
InParanoidiQ8IY47.
KOiK10470.
OMAiFFYEQKL.
OrthoDBiEOG75TMBB.
PhylomeDBiQ8IY47.
TreeFamiTF332672.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030586. KBTBD2.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF192. PTHR24412:SF192. 2 hits.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 1 hit.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8IY47-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSTQDERQIN TEYAVSLLEQ LKLFYEQQLF TDIVLIVEGT EFPCHKMVLA
60 70 80 90 100
TCSSYFRAMF MSGLSESKQT HVHLRNVDAA TLQIIITYAY TGNLAMNDST
110 120 130 140 150
VEQLYETACF LQVEDVLQRC REYLIKKINA ENCVRLLSFA DLFSCEELKQ
160 170 180 190 200
SAKRMVEHKF TAVYHQDAFM QLSHDLLIDI LSSDNLNVEK EETVREAAML
210 220 230 240 250
WLEYNTESRS QYLSSVLSQI RIDALSEVTQ RAWFQGLPPN DKSVVVQGLY
260 270 280 290 300
KSMPKFFKPR LGMTKEEMMI FIEASSENPC SLYSSVCYSP QAEKVYKLCS
310 320 330 340 350
PPADLHKVGT VVTPDNDIYI AGGQVPLKNT KTNHSKTSKL QTAFRTVNCF
360 370 380 390 400
YWFDAQQNTW FPKTPMLFVR IKPSLVCCEG YIYAIGGDSV GGELNRRTVE
410 420 430 440 450
RYDTEKDEWT MVSPLPCAWQ WSAAVVVHDC IYVMTLNLMY CYFPRSDSWV
460 470 480 490 500
EMAMRQTSRS FASAAAFGDK IFYIGGLHIA TNSGIRLPSG TVDGSSVTVE
510 520 530 540 550
IYDVNKNEWK MAANIPAKRY SDPCVRAVVI SNSLCVFMRE THLNERAKYV
560 570 580 590 600
TYQYDLELDR WSLRQHISER VLWDLGRDFR CTVGKLYPSC LEESPWKPPT
610 620
YLFSTDGTEE FELDGEMVAL PPV
Length:623
Mass (Da):71,331
Last modified:July 25, 2003 - v2
Checksum:iA999ED0429B92772
GO

Sequence cautioni

The sequence AAD34068.1 differs from that shown. Reason: Frameshift at position 328. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti167 – 1671D → V in AAD34068 (PubMed:10810093).Curated
Sequence conflicti181 – 1811L → F in AAD34068 (PubMed:10810093).Curated
Sequence conflicti276 – 2761S → A in CAB55994 (PubMed:17974005).Curated
Sequence conflicti543 – 5431L → S in CAB55994 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti166 – 1661Q → K.1 Publication
Corresponds to variant rs17853781 [ dbSNP | Ensembl ].
VAR_037766
Natural varianti189 – 1891E → G.1 Publication
Corresponds to variant rs17854425 [ dbSNP | Ensembl ].
VAR_037767
Natural varianti193 – 1931T → P.
Corresponds to variant rs35477666 [ dbSNP | Ensembl ].
VAR_037768
Natural varianti254 – 2541P → R.1 Publication
Corresponds to variant rs17857323 [ dbSNP | Ensembl ].
VAR_037769
Natural varianti301 – 3011P → R.1 Publication
Corresponds to variant rs17857324 [ dbSNP | Ensembl ].
VAR_037770
Natural varianti534 – 5341L → I.1 Publication
Corresponds to variant rs17854424 [ dbSNP | Ensembl ].
VAR_037771
Natural varianti594 – 5941S → Y.1 Publication
Corresponds to variant rs17853783 [ dbSNP | Ensembl ].
VAR_037772

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292802 mRNA. Translation: BAF85491.1.
CH471073 Genomic DNA. Translation: EAW94000.1.
BC037887 mRNA. Translation: AAH37887.1.
BC047107 mRNA. Translation: AAH47107.1.
AF151831 mRNA. Translation: AAD34068.1. Frameshift.
AB040922 mRNA. Translation: BAA96013.1.
AL117562 mRNA. Translation: CAB55994.1.
CCDSiCCDS34614.1.
PIRiT17304.
RefSeqiNP_056298.2. NM_015483.2.
XP_005249753.1. XM_005249696.1.
XP_011513558.1. XM_011515256.1.
UniGeneiHs.372541.

Genome annotation databases

EnsembliENST00000304056; ENSP00000302586; ENSG00000170852.
GeneIDi25948.
KEGGihsa:25948.
UCSCiuc003tdb.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292802 mRNA. Translation: BAF85491.1.
CH471073 Genomic DNA. Translation: EAW94000.1.
BC037887 mRNA. Translation: AAH37887.1.
BC047107 mRNA. Translation: AAH47107.1.
AF151831 mRNA. Translation: AAD34068.1. Frameshift.
AB040922 mRNA. Translation: BAA96013.1.
AL117562 mRNA. Translation: CAB55994.1.
CCDSiCCDS34614.1.
PIRiT17304.
RefSeqiNP_056298.2. NM_015483.2.
XP_005249753.1. XM_005249696.1.
XP_011513558.1. XM_011515256.1.
UniGeneiHs.372541.

3D structure databases

ProteinModelPortaliQ8IY47.
SMRiQ8IY47. Positions 27-204, 259-561.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117443. 5 interactions.
STRINGi9606.ENSP00000302586.

PTM databases

iPTMnetiQ8IY47.
PhosphoSiteiQ8IY47.

Polymorphism and mutation databases

BioMutaiKBTBD2.
DMDMi33301029.

Proteomic databases

EPDiQ8IY47.
MaxQBiQ8IY47.
PaxDbiQ8IY47.
PeptideAtlasiQ8IY47.
PRIDEiQ8IY47.

Protocols and materials databases

DNASUi25948.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304056; ENSP00000302586; ENSG00000170852.
GeneIDi25948.
KEGGihsa:25948.
UCSCiuc003tdb.3. human.

Organism-specific databases

CTDi25948.
GeneCardsiKBTBD2.
H-InvDBHIX0006584.
HGNCiHGNC:21751. KBTBD2.
HPAiHPA021133.
neXtProtiNX_Q8IY47.
PharmGKBiPA134892896.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00840000129730.
HOGENOMiHOG000004807.
HOVERGENiHBG052211.
InParanoidiQ8IY47.
KOiK10470.
OMAiFFYEQKL.
OrthoDBiEOG75TMBB.
PhylomeDBiQ8IY47.
TreeFamiTF332672.

Miscellaneous databases

GenomeRNAii25948.
PROiQ8IY47.

Gene expression databases

BgeeiQ8IY47.
CleanExiHS_KBTBD2.
ExpressionAtlasiQ8IY47. baseline and differential.
GenevisibleiQ8IY47. HS.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030586. KBTBD2.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF192. PTHR24412:SF192. 2 hits.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 1 hit.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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.
    , 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].
    Tissue: Trachea.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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], VARIANTS LYS-166; GLY-189; ARG-254; ARG-301; ILE-534 AND TYR-594.
    Tissue: Brain.
  4. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
    Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
    Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-376.
  5. "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] OF 113-623.
    Tissue: Brain.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 276-623.
    Tissue: Kidney.
  7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-300, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.

Entry informationi

Entry nameiKBTB2_HUMAN
AccessioniPrimary (citable) accession number: Q8IY47
Secondary accession number(s): A8K9T7
, Q86Y62, Q9P239, Q9UFM7, Q9Y382
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: July 25, 2003
Last modified: July 6, 2016
This is version 119 of the entry and version 2 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. 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.