Q9P2G9 (KLHL8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch-like protein 8

Gene names

Name:	KLHL8
Synonyms:	KIAA1378

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	620 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats.
Sequence caution	The sequence BAA92616.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	Kelch repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 620	620	Kelch-like protein 8		PRO_0000119108
Regions
	Domain	67 – 134	68	BTB
	Repeat	319 – 366	48	Kelch 1
	Repeat	367 – 413	47	Kelch 2
	Repeat	415 – 460	46	Kelch 3
	Repeat	462 – 507	46	Kelch 4
	Repeat	508 – 554	47	Kelch 5
	Repeat	556 – 601	46	Kelch 6
Natural variations
	Natural variant	520	1	P → R. Ref.5 Corresponds to variant rs17854114 [ dbSNP | Ensembl ].		VAR_030012

Sequences

	Sequence		Length	Mass (Da)
	Q9P2G9 [UniParc]. Last modified January 23, 2007. Version 4. Checksum: 6C3C3C78CEC6FE84	FASTA	620	68,802
	10 20 30 40 50 60 MASDSMSSKQ ARNHITKGKR QQQHQQIKNR SSISDGDGED SFIFEANEAW KDFHGSLLRF 70 80 90 100 110 120 YENGELCDVT LKVGSKLISC HKLVLACVIP YFRAMFLSEM AEAKQTLIEI RDFDGDAIED 130 140 150 160 170 180 LVKFVYSSRL TLTVDNVQPL LYAACILQVE LVARACCEYM KLHFHPSNCL AVRAFAESHN 190 200 210 220 230 240 RIDLMDMADQ YACDHFTEVV ECEDFVSVSP QHLHKLLSSS DLNIENEKQV YNAAIKWLLA 250 260 270 280 290 300 NPQHHSKWLD ETLAQVRLPL LPVDFLMGVV AKEQIVKQNL KCRDLLDEAR NYHLHLSSRA 310 320 330 340 350 360 VPDFEYSIRT TPRKHTAGVL FCVGGRGGSG DPFRSIECYS INKNSWFFGP EMNSRRRHVG 370 380 390 400 410 420 VISVEGKVYA VGGHDGNEHL GSMEMFDPLT NKWMMKASMN TKRRGIALAS LGGPIYAIGG 430 440 450 460 470 480 LDDNTCFNDV ERYDIESDQW STVAPMNTPR GGVGSVALVN HVYAVGGNDG MASLSSVERY 490 500 510 520 530 540 DPHLDKWIEV KEMGQRRAGN GVSKLHGCLY VVGGFDDNSP LSSVERYDPR SNKWDYVAAL 550 560 570 580 590 600 TTPRGGVGIA TVMGKIFAVG GHNGNAYLNT VEAFDPVLNR WELVGSVSHC RAGAGVAVCS 610 620 CLTSQIRDVG HGSNNVVDCM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]. 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]	"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]. Tissue: Cerebellum.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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], VARIANT ARG-520. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB037799 mRNA. Translation: BAA92616.2. Different initiation. BX640727 mRNA. Translation: CAE45843.1. CH471057 Genomic DNA. Translation: EAX05982.1. BC041384 mRNA. Translation: AAH41384.1.
IPI	IPI00292917.
RefSeq	NP_065854.3. NM_020803.3.
UniGene	Hs.106601.
3D structure databases
ProteinModelPortal	Q9P2G9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9P2G9. 4 interactions.
STRING	9606.ENSP00000273963.
PTM databases
PhosphoSite	Q9P2G9.
Polymorphism databases
DMDM	124056473.
Proteomic databases
PaxDb	Q9P2G9.
PRIDE	Q9P2G9.
Protocols and materials databases
DNASU	57563.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000273963; ENSP00000273963; ENSG00000145332. ENST00000512111; ENSP00000424131; ENSG00000145332.
GeneID	57563.
KEGG	hsa:57563.
UCSC	uc003hql.1. human.
Organism-specific databases
CTD	57563.
GeneCards	GC04M088081.
HGNC	HGNC:18644. KLHL8.
HPA	HPA013856. HPA017762.
MIM	611967. gene.
neXtProt	NX_Q9P2G9.
PharmGKB	PA38616.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG299517.
HOGENOM	HOG000230814.
HOVERGEN	HBG014286.
InParanoid	Q9P2G9.
KO	K10446.
OMA	MADRYAC.
OrthoDB	EOG4P8FHN.
PhylomeDB	Q9P2G9.
Gene expression databases
ArrayExpress	Q9P2G9.
Bgee	Q9P2G9.
CleanEx	HS_KLHL8.
Genevestigator	Q9P2G9.
GermOnline	ENSG00000145332. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.80. 1 hit. 3.30.710.10. 1 hit.
InterPro	IPR011705. BACK. IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR015916. Gal_Oxidase_b-propeller. IPR017096. Kelch-like_gigaxonin. IPR006652. Kelch_1. [Graphical view]
Pfam	PF07707. BACK. 1 hit. PF00651. BTB. 1 hit. PF01344. Kelch_1. 6 hits. [Graphical view]
PIRSF	PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMART	SM00875. BACK. 1 hit. SM00225. BTB. 1 hit. SM00612. Kelch. 6 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57563.
NextBio	64070.
SOURCE	Search...

Entry information

Entry name

KLHL8_HUMAN

Accession

Primary (citable) accession number: Q9P2G9
Secondary accession number(s): Q53XA3

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 12, 2003
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 97 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.