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Q96PQ7 (KLHL5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kelch-like protein 5
Gene names
Name:KLHL5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length755 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Cytoplasmcytoskeleton.

Tissue specificity

Expressed in adrenal gland, ovary and thyroid gland and less abundantly in lymph node, prostate, spinal chord, testis and trachea.

Sequence similarities

Contains 1 BTB (POZ) domain.

Contains 6 Kelch repeats.

Sequence caution

The sequence AAD32565.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAL08584.1 differs from that shown. Reason: Erroneous termination at position 735. Translated as Trp.

The sequence BAA91845.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAA91933.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAA92121.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentCytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainKelch repeat
Repeat
   LigandActin-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Non-traceable author statement Ref.2. Source: UniProtKB

cytoskeleton

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96PQ7-1)

Also known as: KLHL5a;

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 2 (identifier: Q96PQ7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     739-755: APLCLGRAGACVVTVKL → WHSCFIITLTLFLLKQFLW
Note: May be due to intron retention. No experimental confirmation available.
Isoform 3 (identifier: Q96PQ7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     739-755: APLCLGRAGACVVTVKL → FSHTFEDSKDHLVAIKQTIWRQNSLSEEFRSH
Note: No experimental confirmation available.
Isoform 4 (identifier: Q96PQ7-4)

Also known as: KLHL5b;

The sequence of this isoform differs from the canonical sequence as follows:
     174-234: Missing.
Note: Ubiquitous expression, differentially expressed in kidney and pancreas relatively to isoform 1.
Isoform 5 (identifier: Q96PQ7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-187: Missing.
Isoform 6 (identifier: Q96PQ7-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 755755Kelch-like protein 5
PRO_0000119105

Regions

Domain220 – 28768BTB
Repeat468 – 51447Kelch 1
Repeat515 – 56147Kelch 2
Repeat563 – 60846Kelch 3
Repeat609 – 65547Kelch 4
Repeat657 – 70852Kelch 5
Repeat709 – 75446Kelch 6

Natural variations

Alternative sequence1 – 187187Missing in isoform 5.
VSP_047111
Alternative sequence1 – 4646Missing in isoform 6.
VSP_047112
Alternative sequence174 – 23461Missing in isoform 4.
VSP_045227
Alternative sequence739 – 75517APLCL…VTVKL → WHSCFIITLTLFLLKQFLW in isoform 2.
VSP_008619
Alternative sequence739 – 75517APLCL…VTVKL → FSHTFEDSKDHLVAIKQTIW RQNSLSEEFRSH in isoform 3.
VSP_008620
Natural variant101I → L. Ref.1 Ref.2 Ref.3 Ref.5
Corresponds to variant rs2711941 [ dbSNP | Ensembl ].
VAR_050048
Natural variant5081G → S.
Corresponds to variant rs34646863 [ dbSNP | Ensembl ].
VAR_033985

Experimental info

Sequence conflict1291P → S in AAO39710. Ref.2
Sequence conflict3231L → P in BAA91845. Ref.3
Sequence conflict3511E → G in AAO39710. Ref.2
Sequence conflict4351Q → R in AAL08584. Ref.1
Sequence conflict4591T → I in AAO39710. Ref.2
Sequence conflict5941M → K in BAA91845. Ref.3
Sequence conflict6541N → S in AAO39710. Ref.2
Sequence conflict6951S → G in BAA92121. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (KLHL5a) [UniParc].

Last modified October 24, 2003. Version 3.
Checksum: 2AB1BFB98F387F6C

FASTA75584,457
        10         20         30         40         50         60 
MNVIYFPLHI FVVYSRAYTS LVLVGCTNLC AVLFARCLDD HLVSLRMSGS RKEFDVKQIL 

        70         80         90        100        110        120 
KIRWRWFGHQ ASSPNSTVDS QQGEFWNRGQ TGANGGRKFL DPCSLQLPLA SIGYRRSSQL 

       130        140        150        160        170        180 
DFQNSPSWPM ASTSEVPAFE FTAEDCGGAH WLDRPEVDDG TSEEENESDS SSCRTSNSSQ 

       190        200        210        220        230        240 
TLSSCHTMEP CTSDEFFQAL NHAEQTFKKM ENYLRHKQLC DVILVAGDRR IPAHRLVLSS 

       250        260        270        280        290        300 
VSDYFAAMFT NDVREARQEE IKMEGVEPNS LWSLIQYAYT GRLELKEDNI ECLLSTACLL 

       310        320        330        340        350        360 
QLSQVVEACC KFLMKQLHPS NCLGIRSFAD AQGCTDLHKV AHNYTMEHFM EVIRNQEFVL 

       370        380        390        400        410        420 
LPASEIAKLL ASDDMNIPNE ETILNALLTW VRHDLEQRRK DLSKLLAYIR LPLLAPQFLA 

       430        440        450        460        470        480 
DMENNVLFRD DIECQKLIME AMKYHLLPER RPMLQSPRTK PRKSTVGTLF AVGGMDSTKG 

       490        500        510        520        530        540 
ATSIEKYDLR TNMWTPVANM NGRRLQFGVA VLDDKLYVVG GRDGLKTLNT VECYNPKTKT 

       550        560        570        580        590        600 
WSVMPPMSTH RHGLGVAVLE GPMYAVGGHD GWSYLNTVER WDPQARQWNF VATMSTPRST 

       610        620        630        640        650        660 
VGVAVLSGKL YAVGGRDGSS CLKSVECFDP HTNKWTLCAQ MSKRRGGVGV TTWNGLLYAI 

       670        680        690        700        710        720 
GGHDAPASNL TSRLSDCVER YDPKTDMWTA VASMSISRDA VGVCLLGDKL YAVGGYDGQA 

       730        740        750 
YLNTVEAYDP QTNEWTQVAP LCLGRAGACV VTVKL 

« Hide

Isoform 2 [UniParc].

Checksum: 212A895F72E5A461
Show »

FASTA75785,196
Isoform 3 [UniParc].

Checksum: 14983625633AA991
Show »

FASTA77086,660
Isoform 4 (KLHL5b) [UniParc].

Checksum: AA3024889C329E09
Show »

FASTA69477,452
Isoform 5 [UniParc].

Checksum: 93A5D6C880E3534A
Show »

FASTA56863,589
Isoform 6 [UniParc].

Checksum: 71C85C020A4CB92E
Show »

FASTA70979,228

References

« Hide 'large scale' references
[1]"Cloning and characterization of KLHL5, a novel human gene encoding a kelch-related protein with a BTB domain."
Wang S., Zhou Z., Ying K., Tang R., Huang Y., Wu C., Xie Y., Mao Y.
Biochem. Genet. 39:227-238(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 2), VARIANT LEU-10.
Tissue: Fetal brain.
[2]"Characterization of a novel splicing variant of KLHL5, a member of the kelch protein family."
Xu J., Gu S., Wang S., Dai J., Ji C., Jin Y., Qian J., Wang L., Ye X., Xie Y., Mao Y.
Mol. Biol. Rep. 30:239-242(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANT LEU-10, ALTERNATIVE SPLICING.
Tissue: Fetal 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. expand/collapse author list , 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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 476-755 (ISOFORM 2), VARIANT LEU-10.
Tissue: Brain and Placenta.
[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. expand/collapse author list , 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]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. expand/collapse author list , 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], VARIANT LEU-10.
[6]"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] OF 383-755 (ISOFORM 1).
Tissue: Uterus.
[7]Jiyi Y., Lianxian C., Zhengjian Z., Bo Y.
Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 490-755 (ISOFORM 3).
Tissue: Tonsil.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF272976 mRNA. Translation: AAL08584.1. Sequence problems.
AY172948 mRNA. Translation: AAO39710.1.
AK001698 mRNA. Translation: BAA91845.1. Different initiation.
AK001836 mRNA. Translation: BAA91933.1. Different initiation.
AK002174 mRNA. Translation: BAA92121.1. Different initiation.
AK289785 mRNA. Translation: BAF82474.1.
AC079921 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW92908.1.
CH471069 Genomic DNA. Translation: EAW92911.1.
BC048262 mRNA. Translation: AAH48262.1.
AF123320 mRNA. Translation: AAD32565.1. Different initiation.
RefSeqNP_001007076.1. NM_001007075.2.
NP_057074.3. NM_015990.4.
NP_950240.2. NM_199039.3.
UniGeneHs.272251.

3D structure databases

ProteinModelPortalQ96PQ7.
SMRQ96PQ7. Positions 195-447, 466-753.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119278. 7 interactions.
IntActQ96PQ7. 12 interactions.
MINTMINT-6780713.
STRING9606.ENSP00000371358.

PTM databases

PhosphoSiteQ96PQ7.

Polymorphism databases

DMDM37999955.

Proteomic databases

PaxDbQ96PQ7.
PRIDEQ96PQ7.

Protocols and materials databases

DNASU51088.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261425; ENSP00000261425; ENSG00000109790. [Q96PQ7-6]
ENST00000261426; ENSP00000261426; ENSG00000109790. [Q96PQ7-4]
ENST00000359687; ENSP00000352716; ENSG00000109790. [Q96PQ7-3]
ENST00000381930; ENSP00000371355; ENSG00000109790. [Q96PQ7-2]
ENST00000504108; ENSP00000423897; ENSG00000109790. [Q96PQ7-1]
ENST00000508137; ENSP00000423080; ENSG00000109790. [Q96PQ7-5]
GeneID51088.
KEGGhsa:51088.
UCSCuc003gtp.3. human. [Q96PQ7-1]
uc003gtr.2. human. [Q96PQ7-2]

Organism-specific databases

CTD51088.
GeneCardsGC04P038961.
HGNCHGNC:6356. KLHL5.
HPAHPA013958.
MIM608064. gene.
neXtProtNX_Q96PQ7.
PharmGKBPA30146.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG280486.
HOVERGENHBG014286.
KOK10442.
OMACTSDEFF.
OrthoDBEOG7ZWD17.
PhylomeDBQ96PQ7.
TreeFamTF329218.

Gene expression databases

ArrayExpressQ96PQ7.
BgeeQ96PQ7.
CleanExHS_KLHL5.
GenevestigatorQ96PQ7.

Family and domain databases

Gene3D2.130.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015916. Gal_Oxidase_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 6 hits.
[Graphical view]
SMARTSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 6 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi51088.
NextBio53759.
PROQ96PQ7.
SOURCESearch...

Entry information

Entry nameKLHL5_HUMAN
AccessionPrimary (citable) accession number: Q96PQ7
Secondary accession number(s): A8K170 expand/collapse secondary AC list , B7WP68, E9PCF4, F8WAE7, G3XA92, Q6Y881, Q86XW0, Q9NUK3, Q9NV27, Q9NVA9, Q9Y2X2
Entry history
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: October 24, 2003
Last modified: April 16, 2014
This is version 112 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM