Q9NR64 (KLHL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch-like protein 1

Gene names

Name:	KLHL1
Synonyms:	KIAA1490

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	748 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May play a role in organizing the actin cytoskeleton of the brain cells.
Subcellular location	Cytoplasm › cytoskeleton.
Tissue specificity	Highly expressed in brain.
Sequence similarities	Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats.
Sequence caution	The sequence BAA96014.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Domain	Kelch repeat Repeat
Ligand	Actin-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	actin cytoskeleton organization Non-traceable author statement Ref.1. Source: UniProtKB adult walking behavior Inferred from electronic annotation. Source: Compara cerebellar Purkinje cell layer development Inferred from electronic annotation. Source: Compara dendrite development Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from direct assay Ref.1. Source: UniProtKB cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell dendrite Inferred from electronic annotation. Source: Compara neuronal cell body Inferred from electronic annotation. Source: Compara
Molecular_function	actin binding Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 748	748	Kelch-like protein 1		PRO_0000119099
Regions
	Domain	212 – 279	68	BTB
	Repeat	460 – 506	47	Kelch 1
	Repeat	507 – 553	47	Kelch 2
	Repeat	555 – 600	46	Kelch 3
	Repeat	601 – 647	47	Kelch 4
	Repeat	649 – 700	52	Kelch 5
	Repeat	701 – 747	47	Kelch 6
	Compositional bias	43 – 88	46	Ser-rich

Sequences

	Sequence		Length	Mass (Da)
	Q9NR64 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: C11C43D8282F9FF9	FASTA	748	82,680
	10 20 30 40 50 60 MSGSGRKDFD VKHILRLRWK LFSHPSPSTG GPAGGGCLQQ DGSGSFEHWG PSQSRLLKSQ 70 80 90 100 110 120 ERSGVSTFWK KPSSSSSSSS SPSSSSSSFN PLNGTLLPVA TRLQQGAPGQ GTQQPARTLF 130 140 150 160 170 180 YVESLEEEVV PGMDFPGPHE KGLVLQELKV EPDNSSQATG EGCGHRLSST GHSMTPQSDL 190 200 210 220 230 240 DSSSSEEFYQ AVHHAEQTFR KMESYLKQQQ LCDVILIVGN RKIPAHRLVL SSVSDYFAAM 250 260 270 280 290 300 FTSDVCEAKQ EEIKMEGIDP NALWDLVQFA YTGCLELKED TIENLLAAAC LLQLPQVVEV 310 320 330 340 350 360 CCHFLMKLLH PSNCLGIRAF ADAQGCIELM KVAHSYTMEN IMEVIRNQEF LLLPAEELHK 370 380 390 400 410 420 LLASDDVNVP DEETIFHALM MWVKYDMQSR CNDLSMLLAF IRLPLLPPQI LADLENHALF 430 440 450 460 470 480 KNDLECQKLI LEAMKYHLLP ERRTLMQSPR TKPRKSTVGT LYAVGGMDNN KGATTIEKYD 490 500 510 520 530 540 LRTNLWIQAG MMNGRRLQFG VAVIDDKLFV IGGRDGLKTL NTVECYNPKT KTWTVLPPMS 550 560 570 580 590 600 THRHGLGVTV LEGPIYAVGG HDGWSYLNTV ERWDPQSQQW TFVASMSIAR STVGVAALNG 610 620 630 640 650 660 KLYSVGGRDG SSCLSSMEYY DPHTNKWNMC APMCKRRGGV GVATCDGFLY AVGGHDAPAS 670 680 690 700 710 720 NHCSRLLDYV ERYDPKTDTW TMVAPLSMPR DAVGVCLLGD RLYAVGGYDG QTYLNTMESY 730 740 DPQTNEWTQM ASLNIGRAGA CVVVIKQP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)." Koob M.D., Nemes J.P., Benzow K.A. Hum. Mol. Genet. 9:1543-1551(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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]. Tissue: Brain.
[3]	"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: Brain.
[4]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF252283 mRNA. Translation: AAF81719.1. AF252279 Genomic DNA. Translation: AAF81716.1. AB040923 mRNA. Translation: BAA96014.1. Different initiation. AK291435 mRNA. Translation: BAF84124.1. AL160391 , AL162378, AL353738, AL356384 Genomic DNA. Translation: CAH70258.2. AL162378 , AL160391, AL353738, AL356384 Genomic DNA. Translation: CAH73330.2. AL353738 , AL160391, AL162378, AL356384 Genomic DNA. Translation: CAH71287.2. AL356384 , AL160391, AL162378, AL353738 Genomic DNA. Translation: CAH73834.2. CH471093 Genomic DNA. Translation: EAW80503.1.
IPI	IPI00015995.
RefSeq	NP_065917.1. NM_020866.2.
UniGene	Hs.508201.
3D structure databases
ProteinModelPortal	Q9NR64.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NR64. 1 interaction.
STRING	9606.ENSP00000367075.
PTM databases
PhosphoSite	Q9NR64.
Polymorphism databases
DMDM	13431647.
Proteomic databases
PaxDb	Q9NR64.
PRIDE	Q9NR64.
Protocols and materials databases
DNASU	57626.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377844; ENSP00000367075; ENSG00000150361.
GeneID	57626.
KEGG	hsa:57626.
UCSC	uc001vip.3. human.
Organism-specific databases
CTD	57626.
GeneCards	GC13M070274.
HGNC	HGNC:6352. KLHL1.
HPA	HPA021196.
MIM	605332. gene.
neXtProt	NX_Q9NR64.
PharmGKB	PA30142.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG280486.
HOGENOM	HOG000230814.
HOVERGEN	HBG014286.
InParanoid	Q9NR64.
KO	K10442.
OMA	TPQSDMD.
OrthoDB	EOG4JT055.
PhylomeDB	Q9NR64.
Gene expression databases
ArrayExpress	Q9NR64.
Bgee	Q9NR64.
CleanEx	HS_KLHL1.
Genevestigator	Q9NR64.
GermOnline	ENSG00000150361. 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. IPR006652. Kelch_1. [Graphical view]
Pfam	PF07707. BACK. 1 hit. PF00651. BTB. 1 hit. PF01344. Kelch_1. 6 hits. [Graphical view]
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
ChiTaRS	KLHL1. human.
GenomeRNAi	57626.
NextBio	64323.
SOURCE	Search...

Entry information

Entry name

KLHL1_HUMAN

Accession

Primary (citable) accession number: Q9NR64
Secondary accession number(s): A8K5X0 , Q5VZ64, Q9H4X4, Q9NR65, Q9P238

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 108 of the entry and version 1 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.