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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KLHL5 Gene

protein-coding   GIFtS: 50
GCID: GC04P038961

kelch-like family member 5

(Previous names: kelch (Drosophila)-like 5, kelch-like 5 (Drosophila) )
 Explore 2 diseases affiliated with
KLHL5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KLHL5    

Aliases
for KLHL5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Kelch-Like Family Member 51 2
Kelch (Drosophila)-Like 51
Kelch-Like 5 (Drosophila)1
Kelch-Like Protein 52
Lymphocyte Activation-Associated Protein2

External Ids:    HGNC: 63561   Entrez Gene: 510882   Ensembl: ENSG000001097907   OMIM: 6080645   UniProtKB: Q96PQ73   

Export aliases for KLHL5 gene to outside databases

Previous GC identifers: GC04M038768 GC04M039139 GC04P038898 GC04P038886 GC04P038723 GC04P038371


Summaries
for KLHL5 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for KLHL5 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016297.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL5 gene promoter:
         IRF-1   HNF-3beta   AREB6   HEN1   POU2F1   POU2F1a   POU2F1b   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KLHL5 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p14   Ensembl cytogenetic band:  4p14   HGNC cytogenetic band: 4p15.1

KLHL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL5 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P038961:  view genomic region     (about GC identifiers)

Start:
 39,046,451 bp from pter      End:
 39,128,477 bp from pter
Size:
 82,027 bases      Orientation:
 plus strand

Proteins
for KLHL5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: KLHL5_HUMAN, Q96PQ7 (See protein sequence)
Recommended Name: Kelch-like protein 5  
Size: 755 amino acids; 84457 Da
Subcellular location: Cytoplasm, cytoskeleton
Sequence caution: Sequence=AAD32565.1; Type=Erroneous initiation; Sequence=AAL08584.1; Type=Erroneous termination;
Positions=735; Note=Translated as Trp; Sequence=BAA91845.1; Type=Erroneous initiation; Sequence=BAA91933.1;
Type=Erroneous initiation; Sequence=BAA92121.1; Type=Erroneous initiation;
Secondary accessions: A8K170 B7WP68 F8WAE7 Q6Y881 Q86XW0 Q9NUK3 Q9NV27 Q9NVA9 Q9Y2X2
Alternative splicing: 4 isoforms:  Q96PQ7-1   Q96PQ7-2   Q96PQ7-3   Q96PQ7-4   (Ubiquitous expression, differentially expressed in kidney and pancreas relatively to isoform 1)

Explore the universe of human proteins at neXtProt for KLHL5: NX_Q96PQ7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96PQ7

    • KLHL5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001007076.1  NP_001165125.1  NP_057074.3  NP_950240.2  

    ENSEMBL proteins: 
     ENSP00000261425   ENSP00000423080   ENSP00000423897   ENSP00000371355   ENSP00000261426  
     ENSP00000426949   ENSP00000425512   ENSP00000352716  

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    Uscn Proteins for KLHL5

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS14672410
    GO:0005856cytoskeleton IEA--


    KLHL5 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for KLHL5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KLHL5 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR015916 Gal_Oxidase_b-propeller
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q96PQ7

    ProtoNet protein and cluster: Q96PQ7

    2 Blocks protein families:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLHL5_HUMAN, Q96PQ7
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    Function
    for KLHL5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: KLHL5
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for KLHL5

    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003779actin binding IEA--


    KLHL5 for ontologies           About GeneDecksing



    Pathways & Interactions
    for KLHL5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL5

    5/10 Interacting proteins for KLHL5 (Q96PQ72, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8271256 I2D: score=2 
    SMN2Q166372, 3MINT-8271256 I2D: score=2 
    GABARAPL2P605202, 3MINT-8255580 I2D: score=2 
    MAP1LC3BQ9GZQ82, 3MINT-8259654 I2D: score=2 
    TK1P041832, 3MINT-8273664 I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    KLHL5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KLHL5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KLHL5
    Search CenterWatch for drugs/clinical trials and news about KLHL5 

    Transcripts
    for KLHL5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KLHL5 gene (4 alternative transcripts): 
    NM_001007075.2  NM_001171654.1  NM_015990.4  NM_199039.3  

    Unigene Cluster for KLHL5:

    Kelch-like 5 (Drosophila)
    Hs.272251  [show with all ESTs]
    Unigene Representative Sequence: NM_015990
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261425(uc003gtp.3 uc003gtq.3 uc003gts.3) ENST00000508137
    ENST00000504108 ENST00000381930(uc003gtr.2) ENST00000261426(uc003gtt.3)
    ENST00000514399 ENST00000515612 ENST00000359687

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    8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL5 (see all 51):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-379* hsa-miR-507 hsa-miR-105 hsa-miR-374a* hsa-miR-378 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmid: KLHL5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KLHL5 (see all 7)
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    Clone
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    Additional cDNA sequence: 

    AB208820.1 AK001698.1 AK002174.1 AK002175.1 AK289785.1 AL049385.1 AY172948.1 BC010867.1 
    BC048262.1 BC053860.1 BC058884.1 BC081562.1 

    14 DOTS entries:

    DT.101982669  DT.207244  DT.444861  DT.100794880  DT.121251589  DT.40198527  DT.91986967  DT.40108980 
    DT.121273008  DT.91908882  DT.121233080  DT.121272999  DT.207631  DT.95374179 

    24/259 AceView cDNA sequences (see all 259):

    BQ009010 BM552280 AA374456 AK002174 BM129645 AI370719 AA972666 AK001836 
    CB118708 BE501881 AI654168 AA969586 BG109278 AI207990 BQ005921 BQ010589 
    AA806103 R70258 AI732261 BU543365 AA708594 BM129688 AW292904 BQ018002 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL5 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
    SP1:                                                                                                              -                     
    SP2:                    -     -     -     -                                                                       -                     
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    
    SP5:                                                                                                        -     -     -               


    ECgene alternative splicing isoforms for KLHL5

    Expression
    for KLHL5 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KLHL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGTTTTGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KLHL5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerType1 Off Cone Bipolar CellsBipolar, Retina
    LimbAutopodLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KLHL5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL5

    SOURCE GeneReport for Unigene cluster: Hs.272251

    UniProtKB/Swiss-Prot: KLHL5_HUMAN, Q96PQ7
    Tissue specificity: Expressed in adrenal gland, ovary and thyroid gland and less abundantly in lymph node, prostate,
    spinal chord, testis and trachea

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    In Situ
    Assay Products:     
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    Orthologs
    for KLHL5 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KLHL5 gene from 5/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KLHL51 kelch-like 5 (Drosophila) 83.64(n)
    92.64(a)    		   425121  XM_422912.3  XP_422912.2 
    lizard
    (Anolis carolinensis)    		 Reptilia KLHL56
    		 --
    		 88(a)
    		 1 ↔ 1
    		 5(73195775-73225956)
    zebrafish
    (Danio rerio)    		 Actinopterygii klhl51 kelch-like 5 (Drosophila) 66.76(n)
    76.02(a)    		   560697  NM_001170942.1  NP_001164413.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG177541 , 3 CG177541 60(a)
    (best of 3)3
    53.79(n)1
    57.12(a)1    		   8D103
    318731  NM_132321.31  NP_572549.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea T27E9.4b3 ring canal protein like 33(a)
    (best of 2)    		   III(13537863-13542591)   --


    ENSEMBL Gene Tree for KLHL5 (if available)
    TreeFam Gene Tree for KLHL5 (if available) 

    Paralogs
    for KLHL5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL5 gene
    KLHL172  KLHL182  KLHL202  KLHL122  KEAP12  KLHL282  KLHL42  IPP2  
    KLHL32  KLHL82  KLHL102  KLHL12  KLHL22  
    18/41 SIMAP similar genes for KLHL5 using alignment to 9 protein entries:     KLHL5_HUMAN (see all proteins) (see all similar genes):
    DKFZp761P1717    KLHL1    KLHL4    KLHL20    KLHL17    ZBTB21
    KLHL3    KBTBD8    KLHL28    KLHL2    KLHL12    KLHL8
    KBTBD3    KLHL18    DKFZp781C1855    DKFZp686P15123    DKFZp686H07112    KLHL32

    KLHL5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KLHL5
    PGOHUM00000257002


    Genomic Variants
    for KLHL5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KLHL5
         1 CNV: 68706
         1 Indel: 68705
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for KLHL5

    Disorders / Diseases
    for KLHL5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KLHL5 for disorders           About GeneDecksing

    OMIM gene information: 608064    OMIM disorders: --

    2 diseases for KLHL5:    About MalaCards
    thyroiditis    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: KLHL5 (1 document)

    Export disorders for KLHL5 gene to outside databases

    Publications
    for KLHL5 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KLHL5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KLHL5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a novel splicing variant of KLHL5, a member of the kelch protein family. (PubMed id 14672410)1, 2, 3, 9 Xu J....Mao Y. (2003)
    2. Cloning and characterization of KLHL5, a novel human gene encoding a kelch-related protein with a BTB domain. (PubMed id 11590829)1, 2, 3 Wang S.... Mao Y. (2001)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    7. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    8. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for KLHL5 gene

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    Genome Databases showing KLHL5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51088 HGNC: 6356 AceView: KLHL5 Ensembl:ENSG00000109790 euGenes: HUgn51088
    ECgene: KLHL5 H-InvDB: KLHL5

    Other Databases showing KLHL5 gene

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    Specialized Databases showing KLHL5 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    PharmGKB entry for KLHL5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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