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Protein

Kelch-like protein 8

Gene

KLHL8

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

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Biological processi

  • protein ubiquitination Source: UniProtKB
  • ubiquitin-dependent protein catabolic process Source: UniProtKB

Keywordsi

Biological processUbl 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
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000145332.13
HGNCiHGNC:18644 KLHL8
MIMi611967 gene
neXtProtiNX_Q9P2G9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000145332
PharmGKBiPA38616

Polymorphism and mutation databases

BioMutaiKLHL8
DMDMi124056473

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001191082 – 620Kelch-like protein 8Add BLAST619

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9P2G9
MaxQBiQ9P2G9
PaxDbiQ9P2G9
PeptideAtlasiQ9P2G9
PRIDEiQ9P2G9
ProteomicsDBi83814

PTM databases

iPTMnetiQ9P2G9
PhosphoSitePlusiQ9P2G9

Expressioni

Gene expression databases

BgeeiENSG00000145332
CleanExiHS_KLHL8
ExpressionAtlasiQ9P2G9 baseline and differential
GenevisibleiQ9P2G9 HS

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, 34 interactors
IntActiQ9P2G9, 16 interactors
STRINGi9606.ENSP00000273963

Structurei

3D structure databases

ProteinModelPortaliQ9P2G9
SMRiQ9P2G9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini67 – 134BTBPROSITE-ProRule annotationAdd BLAST68
Domaini169 – 270BACKAdd BLAST102
Repeati319 – 366Kelch 1Add BLAST48
Repeati367 – 413Kelch 2Add BLAST47
Repeati415 – 460Kelch 3Add BLAST46
Repeati462 – 507Kelch 4Add BLAST46
Repeati508 – 554Kelch 5Add BLAST47
Repeati556 – 601Kelch 6Add BLAST46

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00760000118931
HOGENOMiHOG000230814
HOVERGENiHBG014286
InParanoidiQ9P2G9
KOiK10446
OMAiADRYACE
OrthoDBiEOG091G04DN
PhylomeDBiQ9P2G9
TreeFamiTF329218

Family and domain databases

Gene3Di2.120.10.80, 2 hits
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR011043 Gal_Oxase/kelch_b-propeller
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030605 KLHL8
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF403 PTHR24412:SF403, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 6 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 6 hits
SUPFAMiSSF50965 SSF50965, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

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 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030012520P → R1 PublicationCorresponds to variant dbSNP:rs17854114Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05444373 – 148Missing in isoform 2. 1 PublicationAdd BLAST76

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]
CCDS77937.1 [Q9P2G9-2]
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.2 human [Q9P2G9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKLHL8_HUMAN
AccessioniPrimary (citable) accession number: Q9P2G9
Secondary accession number(s): Q53XA3, Q6N018
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 12, 2003
Last sequence update: January 23, 2007
Last modified: June 20, 2018
This is version 142 of the entry and version 4 of the sequence. See 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

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