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    KLHL5 kelch like family member 5 [ Homo sapiens (human) ]

    Gene ID: 51088, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KLHL5provided by HGNC
    Official Full Name
    kelch like family member 5provided by HGNC
    Primary source
    HGNC:HGNC:6356
    See related
    Ensembl:ENSG00000109790 MIM:608064; AllianceGenome:HGNC:6356
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable actin binding activity. Predicted to be located in cytosol. Implicated in cocaine dependence. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 8.4), urinary bladder (RPKM 6.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL5 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (39044827..39143101)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (39014343..39106846)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39046451..39127853)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:38869978-38870561 Neighboring gene toll like receptor 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80048 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80049 Neighboring gene family with sequence similarity 114 member A1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80051 Neighboring gene microRNA 574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:38989899-38990398 Neighboring gene transmembrane protein 156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:39038547-39039076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15366 Neighboring gene uncharacterized LOC105374418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15367 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:39142898-39143092 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:39168330-39169529 Neighboring gene Sharpr-MPRA regulatory region 13789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21455 Neighboring gene WD repeat domain 19 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:39285877-39286122 Neighboring gene RNA, U6 small nuclear 32, pseudogene Neighboring gene replication factor C subunit 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of KLHL5, a novel human gene encoding a kelch-related protein with a BTB domain. Wang S, et al. Biochem Genet, 2001 Aug. PMID 11590829
    2. Characterization of a novel splicing variant of KLHL5, a member of the kelch protein family. Xu J, et al. Mol Biol Rep, 2003 Dec. PMID 14672410
    3. Kelch-like protein 5-mediated ubiquitination of lysine 183 promotes proteasomal degradation of sphingosine kinase 1. Powell JA, et al. Biochem J, 2019 Nov 15. PMID 31652307
    4. Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations. Ding L, et al. Hum Genomics, 2013 Jul 5. PMID 23829686, Free PMC Article
    5. A genome-wide association study of serum uric acid in African Americans. Charles BA, et al. BMC Med Genomics, 2011 Feb 4. PMID 21294900, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KLHL5/Cul3-based E3 ubiquitin ligase complex is important for regulation of SK1 protein stability via Lys183 ubiquitination.
      Title: Kelch-like protein 5-mediated ubiquitination of lysine 183 promotes proteasomal degradation of sphingosine kinase 1.
    2. Data report a novel splicing variant of KLHL5, named KLHL5b, and describe its expression pattern in many tissues.
      Title: Characterization of a novel splicing variant of KLHL5, a member of the kelch protein family.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of serum uric acid in African Americans.
    EBI GWAS Catalog
    Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11313, DKFZp586M1418

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 5
    Names
    lymphocyte activation-associated protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001007075.2 → NP_001007076.1  kelch-like protein 5 isoform 1

      See identical proteins and their annotated locations for NP_001007076.1

      Status: VALIDATED

      Source sequence(s)
      AA715102, AC079921, BC053860, DB451501, DR006899
      Consensus CDS
      CCDS33975.1
      UniProtKB/Swiss-Prot
      A8K170, B7WP68, E9PCF4, F8WAE7, G3XA92, Q6Y881, Q86XW0, Q96PQ7, Q9NUK3, Q9NV27, Q9NVA9, Q9Y2X2
      Related
      ENSP00000261425.3, ENST00000261425.7
      Conserved Domains (2) summary
      PHA03098
      Location:174 → 696
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:458 → 501
      Kelch; KELCH repeat [structural motif]

    2. NM_001171654.1 → NP_001165125.1  kelch-like protein 5 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AA715102, AB208820, AC079921, DB451501, DR006899
      Consensus CDS
      CCDS54756.1
      UniProtKB/TrEMBL
      Q59HD9
      Related
      ENSP00000423080.2, ENST00000508137.6
      Conserved Domains (6) summary
      smart00612
      Location:422 → 468
      Kelch; Kelch domain
      PHA03098
      Location:33 → 555
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:317 → 360
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:23 → 126
      BTB; BTB/POZ domain
      pfam01344
      Location:316 → 361
      Kelch_1; Kelch motif
      pfam07707
      Location:135 → 234
      BACK; BTB And C-terminal Kelch

    3. NM_015990.5 → NP_057074.4  kelch-like protein 5 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), also known as KLHL5a, represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC079921
      Consensus CDS
      CCDS33975.1
      UniProtKB/Swiss-Prot
      A8K170, B7WP68, E9PCF4, F8WAE7, G3XA92, Q6Y881, Q86XW0, Q96PQ7, Q9NUK3, Q9NV27, Q9NVA9, Q9Y2X2
      Related
      ENSP00000423897.2, ENST00000504108.7
      Conserved Domains (2) summary
      PHA03098
      Location:174 → 696
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:458 → 501
      Kelch; KELCH repeat [structural motif]

    4. NM_199039.4 → NP_950240.3  kelch-like protein 5 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), also known as KLHL5b, lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC079921
      Consensus CDS
      CCDS3449.2
      UniProtKB/Swiss-Prot
      A8K170, B7WP68, E9PCF4, F8WAE7, G3XA92, Q6Y881, Q86XW0, Q96PQ7, Q9NUK3, Q9NV27, Q9NVA9, Q9Y2X2
      UniProtKB/TrEMBL
      A0A804C9D6
      Related
      ENSP00000261426.6, ENST00000261426.10
      Conserved Domains (2) summary
      PHA03098
      Location:128 → 635
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:397 → 440
      Kelch; KELCH repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      39044827..39143101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415754.1 → XP_047271710.1  kelch-like protein 5 isoform X6

    2. XM_047415755.1 → XP_047271711.1  kelch-like protein 5 isoform X7

    3. XM_047415749.1 → XP_047271705.1  kelch-like protein 5 isoform X1

    4. XM_047415750.1 → XP_047271706.1  kelch-like protein 5 isoform X1

    5. XM_017008276.2 → XP_016863765.1  kelch-like protein 5 isoform X4

      UniProtKB/TrEMBL
      Q7Z6D5
      Conserved Domains (6) summary
      smart00612
      Location:643 → 689
      Kelch; Kelch domain
      PHA03098
      Location:254 → 772
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:538 → 581
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:244 → 347
      BTB; BTB/POZ domain
      pfam01344
      Location:537 → 582
      Kelch_1; Kelch motif
      pfam07707
      Location:356 → 455
      BACK; BTB And C-terminal Kelch

    6. XM_047415752.1 → XP_047271708.1  kelch-like protein 5 isoform X4

    7. XM_011513700.3 → XP_011512002.1  kelch-like protein 5 isoform X4

      See identical proteins and their annotated locations for XP_011512002.1

      UniProtKB/TrEMBL
      Q7Z6D5
      Conserved Domains (6) summary
      smart00612
      Location:643 → 689
      Kelch; Kelch domain
      PHA03098
      Location:254 → 772
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:538 → 581
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:244 → 347
      BTB; BTB/POZ domain
      pfam01344
      Location:537 → 582
      Kelch_1; Kelch motif
      pfam07707
      Location:356 → 455
      BACK; BTB And C-terminal Kelch

    8. XM_011513701.3 → XP_011512003.1  kelch-like protein 5 isoform X4

      See identical proteins and their annotated locations for XP_011512003.1

      UniProtKB/TrEMBL
      Q7Z6D5
      Conserved Domains (6) summary
      smart00612
      Location:643 → 689
      Kelch; Kelch domain
      PHA03098
      Location:254 → 772
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:538 → 581
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:244 → 347
      BTB; BTB/POZ domain
      pfam01344
      Location:537 → 582
      Kelch_1; Kelch motif
      pfam07707
      Location:356 → 455
      BACK; BTB And C-terminal Kelch

    9. XM_047415751.1 → XP_047271707.1  kelch-like protein 5 isoform X2

    10. XM_047415753.1 → XP_047271709.1  kelch-like protein 5 isoform X5

    11. XM_047415756.1 → XP_047271712.1  kelch-like protein 5 isoform X8

    12. XM_047415759.1 → XP_047271715.1  kelch-like protein 5 isoform X9

    13. XM_047415760.1 → XP_047271716.1  kelch-like protein 5 isoform X9

    14. XM_047415758.1 → XP_047271714.1  kelch-like protein 5 isoform X9

    15. XM_047415761.1 → XP_047271717.1  kelch-like protein 5 isoform X9

    16. XM_047415748.1 → XP_047271704.1  kelch-like protein 5 isoform X1

    17. XM_047415757.1 → XP_047271713.1  kelch-like protein 5 isoform X8

    18. XM_017008275.2 → XP_016863764.1  kelch-like protein 5 isoform X3

      UniProtKB/TrEMBL
      Q7Z6D5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      39014343..39106846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350132.1 → XP_054206107.1  kelch-like protein 5 isoform X6

    2. XM_054350133.1 → XP_054206108.1  kelch-like protein 5 isoform X7

    3. XM_054350137.1 → XP_054206112.1  kelch-like protein 5 isoform X10

    4. XM_054350136.1 → XP_054206111.1  kelch-like protein 5 isoform X10

    5. XM_054350139.1 → XP_054206114.1  kelch-like protein 5 isoform X11

    6. XM_054350141.1 → XP_054206116.1  kelch-like protein 5 isoform X14

    7. XM_054350143.1 → XP_054206118.1  kelch-like protein 5 isoform X14

    8. XM_054350142.1 → XP_054206117.1  kelch-like protein 5 isoform X14

    9. XM_054350140.1 → XP_054206115.1  kelch-like protein 5 isoform X13

    10. XM_054350138.1 → XP_054206113.1  kelch-like protein 5 isoform X12

    11. XM_054350131.1 → XP_054206106.1  kelch-like protein 5 isoform X10

    12. XM_054350134.1 → XP_054206109.1  kelch-like protein 5 isoform X11

    13. XM_054350135.1 → XP_054206110.1  kelch-like protein 5 isoform X11

    14. XM_054350130.1 → XP_054206105.1  kelch-like protein 5 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PQ7.3 GenPept UniProtKB/Swiss-Prot:Q96PQ7

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