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Protein

Kelch-like protein 1

Gene

KLHL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

May play a role in organizing the actin cytoskeleton of the brain cells.

GO - Molecular functioni

  • actin binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Actin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch-like protein 1
Gene namesi
Name:KLHL1
Synonyms:KIAA1490
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:6352. KLHL1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytoskeleton Source: UniProtKB-SubCell
  • dendrite Source: Ensembl
  • neuronal cell body Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30142.

Polymorphism and mutation databases

BioMutaiKLHL1.
DMDMi13431647.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 748748Kelch-like protein 1PRO_0000119099Add
BLAST

Proteomic databases

PaxDbiQ9NR64.
PRIDEiQ9NR64.

PTM databases

PhosphoSiteiQ9NR64.

Expressioni

Tissue specificityi

Highly expressed in brain.

Gene expression databases

BgeeiQ9NR64.
CleanExiHS_KLHL1.
ExpressionAtlasiQ9NR64. baseline and differential.
GenevisibleiQ9NR64. HS.

Organism-specific databases

HPAiHPA021196.

Interactioni

Protein-protein interaction databases

BioGridi121671. 7 interactions.
IntActiQ9NR64. 8 interactions.
STRINGi9606.ENSP00000367075.

Structurei

3D structure databases

ProteinModelPortaliQ9NR64.
SMRiQ9NR64. Positions 194-385, 408-747.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini212 – 27968BTBPROSITE-ProRule annotationAdd
BLAST
Repeati460 – 50647Kelch 1Add
BLAST
Repeati507 – 55347Kelch 2Add
BLAST
Repeati555 – 60046Kelch 3Add
BLAST
Repeati601 – 64747Kelch 4Add
BLAST
Repeati649 – 70052Kelch 5Add
BLAST
Repeati701 – 74747Kelch 6Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi43 – 8846Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 6 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG280486.
GeneTreeiENSGT00760000118931.
HOGENOMiHOG000230814.
HOVERGENiHBG014286.
InParanoidiQ9NR64.
KOiK10442.
OMAiDTQRRCN.
OrthoDBiEOG7ZWD17.
PhylomeDBiQ9NR64.
TreeFamiTF329218.

Family and domain databases

Gene3Di2.130.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015916. Gal_Oxidase_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
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]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NR64-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSGSGRKDFD VKHILRLRWK LFSHPSPSTG GPAGGGCLQQ DGSGSFEHWG
60 70 80 90 100
PSQSRLLKSQ ERSGVSTFWK KPSSSSSSSS SPSSSSSSFN PLNGTLLPVA
110 120 130 140 150
TRLQQGAPGQ GTQQPARTLF YVESLEEEVV PGMDFPGPHE KGLVLQELKV
160 170 180 190 200
EPDNSSQATG EGCGHRLSST GHSMTPQSDL DSSSSEEFYQ AVHHAEQTFR
210 220 230 240 250
KMESYLKQQQ LCDVILIVGN RKIPAHRLVL SSVSDYFAAM FTSDVCEAKQ
260 270 280 290 300
EEIKMEGIDP NALWDLVQFA YTGCLELKED TIENLLAAAC LLQLPQVVEV
310 320 330 340 350
CCHFLMKLLH PSNCLGIRAF ADAQGCIELM KVAHSYTMEN IMEVIRNQEF
360 370 380 390 400
LLLPAEELHK LLASDDVNVP DEETIFHALM MWVKYDMQSR CNDLSMLLAF
410 420 430 440 450
IRLPLLPPQI LADLENHALF KNDLECQKLI LEAMKYHLLP ERRTLMQSPR
460 470 480 490 500
TKPRKSTVGT LYAVGGMDNN KGATTIEKYD LRTNLWIQAG MMNGRRLQFG
510 520 530 540 550
VAVIDDKLFV IGGRDGLKTL NTVECYNPKT KTWTVLPPMS THRHGLGVTV
560 570 580 590 600
LEGPIYAVGG HDGWSYLNTV ERWDPQSQQW TFVASMSIAR STVGVAALNG
610 620 630 640 650
KLYSVGGRDG SSCLSSMEYY DPHTNKWNMC APMCKRRGGV GVATCDGFLY
660 670 680 690 700
AVGGHDAPAS NHCSRLLDYV ERYDPKTDTW TMVAPLSMPR DAVGVCLLGD
710 720 730 740
RLYAVGGYDG QTYLNTMESY DPQTNEWTQM ASLNIGRAGA CVVVIKQP
Length:748
Mass (Da):82,680
Last modified:October 1, 2000 - v1
Checksum:iC11C43D8282F9FF9
GO

Sequence cautioni

The sequence BAA96014.1 differs from that shown. Reason: Erroneous initiation. Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS9445.1.
RefSeqiNP_001273654.1. NM_001286725.1.
NP_065917.1. NM_020866.2.
UniGeneiHs.508201.

Genome annotation databases

EnsembliENST00000377844; ENSP00000367075; ENSG00000150361.
GeneIDi57626.
KEGGihsa:57626.
UCSCiuc001vip.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS9445.1.
RefSeqiNP_001273654.1. NM_001286725.1.
NP_065917.1. NM_020866.2.
UniGeneiHs.508201.

3D structure databases

ProteinModelPortaliQ9NR64.
SMRiQ9NR64. Positions 194-385, 408-747.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121671. 7 interactions.
IntActiQ9NR64. 8 interactions.
STRINGi9606.ENSP00000367075.

PTM databases

PhosphoSiteiQ9NR64.

Polymorphism and mutation databases

BioMutaiKLHL1.
DMDMi13431647.

Proteomic databases

PaxDbiQ9NR64.
PRIDEiQ9NR64.

Protocols and materials databases

DNASUi57626.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377844; ENSP00000367075; ENSG00000150361.
GeneIDi57626.
KEGGihsa:57626.
UCSCiuc001vip.3. human.

Organism-specific databases

CTDi57626.
GeneCardsiGC13M070274.
HGNCiHGNC:6352. KLHL1.
HPAiHPA021196.
MIMi605332. gene.
neXtProtiNX_Q9NR64.
PharmGKBiPA30142.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG280486.
GeneTreeiENSGT00760000118931.
HOGENOMiHOG000230814.
HOVERGENiHBG014286.
InParanoidiQ9NR64.
KOiK10442.
OMAiDTQRRCN.
OrthoDBiEOG7ZWD17.
PhylomeDBiQ9NR64.
TreeFamiTF329218.

Miscellaneous databases

ChiTaRSiKLHL1. human.
GeneWikiiKLHL1.
GenomeRNAii57626.
NextBioi64323.
PROiQ9NR64.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NR64.
CleanExiHS_KLHL1.
ExpressionAtlasiQ9NR64. baseline and differential.
GenevisibleiQ9NR64. HS.

Family and domain databases

Gene3Di2.130.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015916. Gal_Oxidase_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
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]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiKLHL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NR64
Secondary accession number(s): A8K5X0
, Q5VZ64, Q9H4X4, Q9NR65, Q9P238
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: October 1, 2000
Last modified: June 24, 2015
This is version 122 of the entry and version 1 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 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.