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Q9P2G9

- KLHL8_HUMAN

UniProt

Q9P2G9 - KLHL8_HUMAN

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Protein

Kelch-like protein 8

Gene

KLHL8

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

Functioni

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN.1 Publication

Pathwayi

GO - Biological processi

  1. protein ubiquitination Source: UniProtKB
  2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch-like protein 8
Gene namesi
Name:KLHL8
Synonyms:KIAA1378
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:18644. KLHL8.

Subcellular locationi

GO - Cellular componenti

  1. Cul3-RING ubiquitin ligase complex Source: UniProtKB
  2. nucleus Source: HPA
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38616.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 620619Kelch-like protein 8PRO_0000119108Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9P2G9.
PaxDbiQ9P2G9.
PRIDEiQ9P2G9.

PTM databases

PhosphoSiteiQ9P2G9.

Expressioni

Gene expression databases

BgeeiQ9P2G9.
CleanExiHS_KLHL8.
ExpressionAtlasiQ9P2G9. baseline and differential.
GenevestigatoriQ9P2G9.

Organism-specific databases

HPAiHPA013856.
HPA017762.

Interactioni

Subunit structurei

Component of the BCR(KLHL8) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL8 and RBX1. Interacts with RAPSN.1 Publication

Protein-protein interaction databases

BioGridi121618. 10 interactions.
IntActiQ9P2G9. 4 interactions.
STRINGi9606.ENSP00000273963.

Structurei

3D structure databases

ProteinModelPortaliQ9P2G9.
SMRiQ9P2G9. Positions 44-293, 319-598.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini67 – 13468BTBPROSITE-ProRule annotationAdd
BLAST
Domaini169 – 270102BACKAdd
BLAST
Repeati319 – 36648Kelch 1Add
BLAST
Repeati367 – 41347Kelch 2Add
BLAST
Repeati415 – 46046Kelch 3Add
BLAST
Repeati462 – 50746Kelch 4Add
BLAST
Repeati508 – 55447Kelch 5Add
BLAST
Repeati556 – 60146Kelch 6Add
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 6 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG299517.
GeneTreeiENSGT00760000118931.
HOGENOMiHOG000230814.
HOVERGENiHBG014286.
InParanoidiQ9P2G9.
KOiK10446.
OMAiRKQTAGV.
OrthoDBiEOG7PK8Z1.
PhylomeDBiQ9P2G9.
TreeFamiTF329218.

Family and domain databases

Gene3Di2.130.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR011043. Gal_Oxase/kelch_b-propeller.
IPR015916. Gal_Oxidase_b-propeller.
IPR017096. Kelch-like_gigaxonin-typ.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 6 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 6 hits.
[Graphical view]
SUPFAMiSSF50965. SSF50965. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9P2G9-1) [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
MASDSMSSKQ ARNHITKGKR QQQHQQIKNR SSISDGDGED SFIFEANEAW
60 70 80 90 100
KDFHGSLLRF YENGELCDVT LKVGSKLISC HKLVLACVIP YFRAMFLSEM
110 120 130 140 150
AEAKQTLIEI RDFDGDAIED LVKFVYSSRL TLTVDNVQPL LYAACILQVE
160 170 180 190 200
LVARACCEYM KLHFHPSNCL AVRAFAESHN RIDLMDMADQ YACDHFTEVV
210 220 230 240 250
ECEDFVSVSP QHLHKLLSSS DLNIENEKQV YNAAIKWLLA NPQHHSKWLD
260 270 280 290 300
ETLAQVRLPL LPVDFLMGVV AKEQIVKQNL KCRDLLDEAR NYHLHLSSRA
310 320 330 340 350
VPDFEYSIRT TPRKHTAGVL FCVGGRGGSG DPFRSIECYS INKNSWFFGP
360 370 380 390 400
EMNSRRRHVG VISVEGKVYA VGGHDGNEHL GSMEMFDPLT NKWMMKASMN
410 420 430 440 450
TKRRGIALAS LGGPIYAIGG LDDNTCFNDV ERYDIESDQW STVAPMNTPR
460 470 480 490 500
GGVGSVALVN HVYAVGGNDG MASLSSVERY DPHLDKWIEV KEMGQRRAGN
510 520 530 540 550
GVSKLHGCLY VVGGFDDNSP LSSVERYDPR SNKWDYVAAL TTPRGGVGIA
560 570 580 590 600
TVMGKIFAVG GHNGNAYLNT VEAFDPVLNR WELVGSVSHC RAGAGVAVCS
610 620
CLTSQIRDVG HGSNNVVDCM
Length:620
Mass (Da):68,802
Last modified:January 23, 2007 - v4
Checksum:i6C3C3C78CEC6FE84
GO
Isoform 2 (identifier: Q9P2G9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-148: Missing.

Note: No experimental confirmation available.

Show »
Length:544
Mass (Da):60,281
Checksum:iFED52CF501F2DDB5
GO

Sequence cautioni

The sequence BAA92616.2 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti520 – 5201P → R.1 Publication
Corresponds to variant rs17854114 [ dbSNP | Ensembl ].
VAR_030012

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei73 – 14876Missing in isoform 2. 1 PublicationVSP_054443Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037799 mRNA. Translation: BAA92616.2. Different initiation.
BX640727 mRNA. Translation: CAE45843.1.
BX640744 mRNA. Translation: CAE45855.1.
AC092658 Genomic DNA. No translation available.
AC108516 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX05982.1.
BC041384 mRNA. Translation: AAH41384.1.
CCDSiCCDS3617.1. [Q9P2G9-1]
RefSeqiNP_001278932.1. NM_001292003.1. [Q9P2G9-1]
NP_001278935.1. NM_001292006.1. [Q9P2G9-2]
NP_001278936.1. NM_001292007.1.
NP_065854.3. NM_020803.4. [Q9P2G9-1]
UniGeneiHs.106601.

Genome annotation databases

EnsembliENST00000273963; ENSP00000273963; ENSG00000145332. [Q9P2G9-1]
ENST00000498875; ENSP00000426451; ENSG00000145332. [Q9P2G9-2]
ENST00000512111; ENSP00000424131; ENSG00000145332. [Q9P2G9-1]
GeneIDi57563.
KEGGihsa:57563.
UCSCiuc003hql.1. human. [Q9P2G9-1]

Polymorphism databases

DMDMi124056473.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037799 mRNA. Translation: BAA92616.2 . Different initiation.
BX640727 mRNA. Translation: CAE45843.1 .
BX640744 mRNA. Translation: CAE45855.1 .
AC092658 Genomic DNA. No translation available.
AC108516 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX05982.1 .
BC041384 mRNA. Translation: AAH41384.1 .
CCDSi CCDS3617.1. [Q9P2G9-1 ]
RefSeqi NP_001278932.1. NM_001292003.1. [Q9P2G9-1 ]
NP_001278935.1. NM_001292006.1. [Q9P2G9-2 ]
NP_001278936.1. NM_001292007.1.
NP_065854.3. NM_020803.4. [Q9P2G9-1 ]
UniGenei Hs.106601.

3D structure databases

ProteinModelPortali Q9P2G9.
SMRi Q9P2G9. Positions 44-293, 319-598.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121618. 10 interactions.
IntActi Q9P2G9. 4 interactions.
STRINGi 9606.ENSP00000273963.

PTM databases

PhosphoSitei Q9P2G9.

Polymorphism databases

DMDMi 124056473.

Proteomic databases

MaxQBi Q9P2G9.
PaxDbi Q9P2G9.
PRIDEi Q9P2G9.

Protocols and materials databases

DNASUi 57563.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000273963 ; ENSP00000273963 ; ENSG00000145332 . [Q9P2G9-1 ]
ENST00000498875 ; ENSP00000426451 ; ENSG00000145332 . [Q9P2G9-2 ]
ENST00000512111 ; ENSP00000424131 ; ENSG00000145332 . [Q9P2G9-1 ]
GeneIDi 57563.
KEGGi hsa:57563.
UCSCi uc003hql.1. human. [Q9P2G9-1 ]

Organism-specific databases

CTDi 57563.
GeneCardsi GC04M088081.
HGNCi HGNC:18644. KLHL8.
HPAi HPA013856.
HPA017762.
MIMi 611967. gene.
neXtProti NX_Q9P2G9.
PharmGKBi PA38616.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG299517.
GeneTreei ENSGT00760000118931.
HOGENOMi HOG000230814.
HOVERGENi HBG014286.
InParanoidi Q9P2G9.
KOi K10446.
OMAi RKQTAGV.
OrthoDBi EOG7PK8Z1.
PhylomeDBi Q9P2G9.
TreeFami TF329218.

Enzyme and pathway databases

UniPathwayi UPA00143 .

Miscellaneous databases

ChiTaRSi KLHL8. human.
GeneWikii KLHL8.
GenomeRNAii 57563.
NextBioi 64070.
PROi Q9P2G9.
SOURCEi Search...

Gene expression databases

Bgeei Q9P2G9.
CleanExi HS_KLHL8.
ExpressionAtlasi Q9P2G9. baseline and differential.
Genevestigatori Q9P2G9.

Family and domain databases

Gene3Di 2.130.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProi IPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR011043. Gal_Oxase/kelch_b-propeller.
IPR015916. Gal_Oxidase_b-propeller.
IPR017096. Kelch-like_gigaxonin-typ.
IPR006652. Kelch_1.
[Graphical view ]
Pfami PF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 6 hits.
[Graphical view ]
PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTi SM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 6 hits.
[Graphical view ]
SUPFAMi SSF50965. SSF50965. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Cerebellum and Fetal kidney.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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 1), VARIANT ARG-520.
    Tissue: Brain.
  7. "Control of rapsyn stability by the CUL-3-containing E3 ligase complex."
    Nam S., Min K., Hwang H., Lee H.O., Lee J.H., Yoon J., Lee H., Park S., Lee J.
    J. Biol. Chem. 284:8195-8206(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN A BCR (BTB-CUL3-RBX1) E3 UBIQUITIN LIGASE COMPLEX, INTERACTION WITH RAPSN.
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiKLHL8_HUMAN
AccessioniPrimary (citable) accession number: Q9P2G9
Secondary accession number(s): Q53XA3, Q6N018
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 12, 2003
Last sequence update: January 23, 2007
Last modified: November 26, 2014
This is version 111 of the entry and version 4 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 4
    Human chromosome 4: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3