Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Kelch-like protein 8

Gene

KLHL8

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

  • protein ubiquitination Source: UniProtKB
  • 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 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:18644. KLHL8.

Subcellular locationi

GO - Cellular componenti

  • Cul3-RING ubiquitin ligase complex Source: UniProtKB
  • nucleoplasm Source: HPA
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38616.

Polymorphism and mutation databases

BioMutaiKLHL8.
DMDMi124056473.

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. 13 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.
OMAiADRYACE.
OrthoDBiEOG7PK8Z1.
PhylomeDBiQ9P2G9.
TreeFamiTF329218.

Family and domain databases

Gene3Di2.130.10.80. 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.
IPR006652. Kelch_1.
IPR030605. KLHL8.
[Graphical view]
PANTHERiPTHR24412:SF138. PTHR24412:SF138. 1 hit.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 6 hits.
[Graphical view]
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. AlignAdd to basket

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]
uc003hqm.1. human.

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.
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi121618. 13 interactions.
IntActiQ9P2G9. 4 interactions.
STRINGi9606.ENSP00000273963.

PTM databases

PhosphoSiteiQ9P2G9.

Polymorphism and mutation databases

BioMutaiKLHL8.
DMDMi124056473.

Proteomic databases

MaxQBiQ9P2G9.
PaxDbiQ9P2G9.
PRIDEiQ9P2G9.

Protocols and materials databases

DNASUi57563.
Structural Biology KnowledgebaseSearch...

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]
uc003hqm.1. human.

Organism-specific databases

CTDi57563.
GeneCardsiGC04M088081.
HGNCiHGNC:18644. KLHL8.
HPAiHPA013856.
HPA017762.
MIMi611967. gene.
neXtProtiNX_Q9P2G9.
PharmGKBiPA38616.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

ChiTaRSiKLHL8. human.
GeneWikiiKLHL8.
GenomeRNAii57563.
NextBioi64070.
PROiQ9P2G9.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di2.130.10.80. 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.
IPR006652. Kelch_1.
IPR030605. KLHL8.
[Graphical view]
PANTHERiPTHR24412:SF138. PTHR24412:SF138. 1 hit.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 6 hits.
[Graphical view]
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]
ProtoNetiSearch...

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: April 29, 2015
This is version 115 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

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 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.