O60662 (KLH41_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch-like protein 41

Alternative name(s):
Kel-like protein 23
Kelch repeat and BTB domain-containing protein 10
Kelch-related protein 1
Sarcosin

Gene names

Name:	KLHL41
Synonyms:	KBTBD10, KRP1

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	606 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells By similarity.
Subunit structure	Interacts with NRAP. Interacts with LASP1 By similarity. Part of a complex that contains CUL3, RBX1 and KLHL41. Ref.6
Subcellular location	Cytoplasm. Cytoplasm › cytoskeleton. Cell projection › pseudopodium. Cell projection › ruffle. Cytoplasm › myofibril › sarcomere › M line By similarity. Note: Predominantly cytoplasmic but can co-localize with F-actin at the membrane ruffle-like structures at the tips of transformation-specific pseudopodia. Ref.7
Tissue specificity	Sarcomeric muscle.
Post-translational modification	Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination. Ref.6
Sequence similarities	Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 5 Kelch repeats.

Ontologies

Keywords
Cellular component	Cell projection Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Kelch repeat Repeat
PTM	Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	myofibril assembly Inferred from sequence or structural similarity. Source: UniProtKB protein ubiquitination Inferred from direct assay Ref.6. Source: UniProtKB regulation of lateral pseudopodium assembly Inferred from electronic annotation. Source: Compara regulation of myoblast differentiation Inferred from sequence or structural similarity. Source: UniProtKB regulation of myoblast proliferation Inferred from sequence or structural similarity. Source: UniProtKB skeletal muscle cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB striated muscle contraction Traceable author statement Ref.1. Source: ProtInc
Cellular_component	Cul3-RING ubiquitin ligase complex Inferred from direct assay Ref.6. Source: UniProtKB M band Inferred from sequence or structural similarity. Source: UniProtKB centrosome Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA plasma membrane Inferred from direct assay. Source: HPA pseudopodium Inferred from electronic annotation. Source: UniProtKB-SubCell ruffle Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NEB	P20929	13	EBI-5353084,EBI-1049657

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: O60662-1)

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.

Isoform Short (identifier: O60662-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MDSQRELAEEL → M

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 606	606	Kelch-like protein 41		PRO_0000119088
Regions
	Domain	33 – 100	68	BTB
	Domain	135 – 237	103	BACK
	Repeat	346 – 398	53	Kelch 1
	Repeat	399 – 447	49	Kelch 2
	Repeat	448 – 495	48	Kelch 3
	Repeat	497 – 542	46	Kelch 4
	Repeat	544 – 599	56	Kelch 5
Natural variations
	Alternative sequence	1 – 11	11	MDSQRELAEEL → M in isoform Short.		VSP_002819
	Natural variant	271	1	A → T. Corresponds to variant rs28763868 [ dbSNP | Ensembl ].		VAR_050046
	Natural variant	481	1	M → V. Corresponds to variant rs34623017 [ dbSNP | Ensembl ].		VAR_050047
Experimental info
	Sequence conflict	304	1	D → G in AAC13686. Ref.1
	Sequence conflict	358	1	E → K in AAC13686. Ref.1
	Sequence conflict	361	1	D → V in AAC13686. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified June 1, 2001. Version 2. Checksum: 8C7BC13EB6E01034	FASTA	606	68,037
	10 20 30 40 50 60 MDSQRELAEE LRLYQSTLLQ DGLKDLLDEK KFIDCTLKAG DKSLPCHRLI LSACSPYFRE 70 80 90 100 110 120 YFLSEIDEAK KKEVVLDNVD PAILDLIIKY LYSASIDLND GNVQDIFALA SRFQIPSVFT 130 140 150 160 170 180 VCVSYLQKRL APGNCLAILR LGLLLDCPRL AISAREFVSD RFVQICKEED FMQLSPQELI 190 200 210 220 230 240 SVISNDSLNV EKEEAVFEAV MKWVRTDKEN RVKNLSEVFD CIRFRLMTEK YFKDHVEKDD 250 260 270 280 290 300 IIKSNPDLQK KIKVLKDAFA GKLPEPSKNA AKTGAGEVNG DVGDEDLLPG YLNDIPRHGM 310 320 330 340 350 360 FVKDLILLVN DTAAVAYDPT ENECYLTALA EQIPRNHSSI VTQQNQIYVV GGLYVDEENK 370 380 390 400 410 420 DQPLQSYFFQ LDSIASEWVG LPPLPSARCL FGLGEVDDKI YVVAGKDLQT EASLDSVLCY 430 440 450 460 470 480 DPVAAKWNEV KKLPIKVYGH NVISHKGMIY CLGGKTDDKK CTNRVFIFNP KKGDWKDLAP 490 500 510 520 530 540 MKIPRSMFGV AVHKGKIVIA GGVTEDGLSA SVEAFDLTTN KWDVMTEFPQ ERSSISLVSL 550 560 570 580 590 600 AGSLYAIGGF AMIQLESKEF APTEVNDIWK YEDDKKEWAG MLKEIRYASG ASCLATRLNL FKLSKL
	Isoform Short [UniParc]. Checksum: B28A64E7E5EB9B59	FASTA	596	66,866
	10 20 30 40 50 60 MRLYQSTLLQ DGLKDLLDEK KFIDCTLKAG DKSLPCHRLI LSACSPYFRE YFLSEIDEAK 70 80 90 100 110 120 KKEVVLDNVD PAILDLIIKY LYSASIDLND GNVQDIFALA SRFQIPSVFT VCVSYLQKRL 130 140 150 160 170 180 APGNCLAILR LGLLLDCPRL AISAREFVSD RFVQICKEED FMQLSPQELI SVISNDSLNV 190 200 210 220 230 240 EKEEAVFEAV MKWVRTDKEN RVKNLSEVFD CIRFRLMTEK YFKDHVEKDD IIKSNPDLQK 250 260 270 280 290 300 KIKVLKDAFA GKLPEPSKNA AKTGAGEVNG DVGDEDLLPG YLNDIPRHGM FVKDLILLVN 310 320 330 340 350 360 DTAAVAYDPT ENECYLTALA EQIPRNHSSI VTQQNQIYVV GGLYVDEENK DQPLQSYFFQ 370 380 390 400 410 420 LDSIASEWVG LPPLPSARCL FGLGEVDDKI YVVAGKDLQT EASLDSVLCY DPVAAKWNEV 430 440 450 460 470 480 KKLPIKVYGH NVISHKGMIY CLGGKTDDKK CTNRVFIFNP KKGDWKDLAP MKIPRSMFGV 490 500 510 520 530 540 AVHKGKIVIA GGVTEDGLSA SVEAFDLTTN KWDVMTEFPQ ERSSISLVSL AGSLYAIGGF 550 560 570 580 590 AMIQLESKEF APTEVNDIWK YEDDKKEWAG MLKEIRYASG ASCLATRLNL FKLSKL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"DNA sequence and muscle-specific expression of human sarcosin transcripts." Taylor A., Obholz K., Linden G., Sadiev S., Klaus S., Carlson K.D. Mol. Cell. Biochem. 183:105-112(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
[2]	"Krp1, a novel kelch related protein that is involved in pseudopod elongation in transformed cells." Spence H.J., Johnston I.P., Ewart K., Buchanan S.J., Fitzgerald U., Ozanne B.W. Oncogene 19:1266-1276(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). Tissue: Skeletal muscle.
[3]	"Mammalian Kel or Kel-like proteins related to ovarian development and differentiation." Zhuang D., Gunnarsson D., Toffia O., Lind M., Lundgren P., Selstam G. Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
[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]	"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 LONG). Tissue: Muscle.
[6]	"Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway." Zhang D.D., Lo S.C., Sun Z., Habib G.M., Lieberman M.W., Hannink M. J. Biol. Chem. 280:30091-30099(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH CUL3 AND RBX1, UBIQUITINATION.
[7]	"Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level." Wang X.J., Zhang D.D. PLoS ONE 4:E5492-E5492(2009) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF056929 mRNA. Translation: AAC13686.1. AF333387 mRNA. Translation: AAG52886.1. AC093899 Genomic DNA. Translation: AAY24117.1. BC006534 mRNA. Translation: AAH06534.1.
IPI	IPI00030986. IPI00220297.
RefSeq	NP_006054.2. NM_006063.2.
UniGene	Hs.50550.
3D structure databases
ProteinModelPortal	O60662.
ModBase	Search...
Protein-protein interaction databases
IntAct	O60662. 5 interactions.
STRING	9606.ENSP00000284669.
PTM databases
PhosphoSite	O60662.
Proteomic databases
PaxDb	O60662.
PRIDE	O60662.
Protocols and materials databases
DNASU	10324.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000284669; ENSP00000284669; ENSG00000239474.
GeneID	10324.
KEGG	hsa:10324.
UCSC	uc002ueu.1. human.
Organism-specific databases
CTD	10324.
GeneCards	GC02P170366.
HGNC	HGNC:16905. KLHL41.
HPA	HPA021165. HPA021753. HPA021760.
MIM	607701. gene.
neXtProt	NX_O60662.
PharmGKB	PA134950205.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG290520.
HOGENOM	HOG000231966.
HOVERGEN	HBG052215.
InParanoid	O60662.
KO	K10473.
OMA	NGDVGDE.
OrthoDB	EOG4SJ5DD.
PhylomeDB	O60662.
Gene expression databases
Bgee	O60662.
CleanEx	HS_KBTBD10.
Genevestigator	O60662.
GermOnline	ENSG00000154474. Homo sapiens.
Family and domain databases
Gene3D	2.120.10.80. 1 hit. 3.30.710.10. 1 hit.
InterPro	IPR011705. BACK. IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR017096. Kelch-like_gigaxonin. IPR015915. Kelch-typ_b-propeller. IPR006652. Kelch_1. [Graphical view]
Pfam	PF07707. BACK. 1 hit. PF00651. BTB. 1 hit. PF01344. Kelch_1. 3 hits. [Graphical view]
PIRSF	PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMART	SM00875. BACK. 1 hit. SM00225. BTB. 1 hit. SM00612. Kelch. 4 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10324.
NextBio	39135.
SOURCE	Search...

Entry information

Entry name

KLH41_HUMAN

Accession

Primary (citable) accession number: O60662
Secondary accession number(s): Q53R42

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 2001
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 112 of the entry and version 2 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.