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

Gene ID: 51088, updated on 2-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
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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 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)

Genotypes

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 molecular_function ND
No biological Data available
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 biological_process ND
No biological Data available
more info
  
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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