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    KLHL36 kelch like family member 36 [ Homo sapiens (human) ]

    Gene ID: 79786, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KLHL36provided by HGNC
    Official Full Name
    kelch like family member 36provided by HGNC
    Primary source
    HGNC:HGNC:17844
    See related
    Ensembl:ENSG00000135686 AllianceGenome:HGNC:17844
    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
    Also known as
    C16orf44
    Summary
    Enables cullin family protein binding activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.4), testis (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL36 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84648511..84667686)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90714793..90733970)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84682117..84701292)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84547599-84548206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84557586-84558169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84558170-84558754 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:84565033-84565246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84565360-84566037 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84566038-84566716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84566717-84567393 Neighboring gene Sharpr-MPRA regulatory region 4738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84577753-84578254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84578255-84578754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84580996-84581746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84580244-84580995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84582498-84583247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84589034-84589534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84593245-84593762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84594827-84595594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84595595-84596362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84605929-84606461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84617304-84617809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84623933-84624432 Neighboring gene coactosin like F-actin binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84631141-84631642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84631643-84632142 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84632885-84633706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11245 Neighboring gene Sharpr-MPRA regulatory region 4329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84637045-84637609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84647291-84647792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84647793-84648292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84674539-84675097 Neighboring gene uncharacterized LOC105371376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84706085-84706586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84745056-84745556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84752587-84753087 Neighboring gene Sharpr-MPRA regulatory region 11774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11253 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84760363-84760863 Neighboring gene uncharacterized LOC124903737 Neighboring gene ubiquitin specific peptidase 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84769037-84770002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84770003-84770968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11254 Neighboring gene Sharpr-MPRA regulatory region 6565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11255 Neighboring gene Sharpr-MPRA regulatory region 1784 Neighboring gene uncharacterized LOC105371378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84828009-84828510

    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. Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases. Furukawa M, et al. Nat Cell Biol, 2003 Nov. PMID 14528312
    2. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. Croteau-Chonka DC, et al. Obesity (Silver Spring), 2011 May. PMID 20966902, Free PMC Article
    3. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
    4. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Chatrathi HE, et al. Hypertension, 2022 Jan. PMID 34878901, Free PMC Article
    5. A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development. Asmar AJ, et al. Nat Commun, 2023 Jul 26. PMID 37495603, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    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

    • FLJ12543

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cullin family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cullin family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 36
    Names
    kelch-like 36

    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_001303451.2 → NP_001290380.1  kelch-like protein 36 isoform 2

      See identical proteins and their annotated locations for NP_001290380.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC009116, AW337439, BC032400, DA049618
      Consensus CDS
      CCDS76909.1
      UniProtKB/Swiss-Prot
      Q8N4N3
      Related
      ENSP00000258157.5, ENST00000258157.9
      Conserved Domains (2) summary
      sd00038
      Location:372 → 416
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:45 → 522
      BTB; Broad-Complex, Tramtrack and Bric a brac

    2. NM_024731.4 → NP_079007.2  kelch-like protein 36 isoform 1

      See identical proteins and their annotated locations for NP_079007.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC009116, AK022605, AW337439, BC033821, DA049618
      Consensus CDS
      CCDS10948.1
      UniProtKB/Swiss-Prot
      Q8N4N3, Q8N5G6, Q9H9U6
      Related
      ENSP00000456743.1, ENST00000564996.6
      Conserved Domains (6) summary
      smart00612
      Location:547 → 593
      Kelch; Kelch domain
      PHA03098
      Location:45 → 585
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:335 → 383
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:36 → 139
      BTB; BTB/POZ domain
      pfam01344
      Location:386 → 431
      Kelch_1; Kelch motif
      pfam07707
      Location:149 → 250
      BACK; BTB And C-terminal Kelch

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      84648511..84667686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434649.1 → XP_047290605.1  kelch-like protein 36 isoform X1

      UniProtKB/Swiss-Prot
      Q8N4N3, Q8N5G6, Q9H9U6

    2. XM_047434650.1 → XP_047290606.1  kelch-like protein 36 isoform X2

    3. XM_047434648.1 → XP_047290604.1  kelch-like protein 36 isoform X1

      UniProtKB/Swiss-Prot
      Q8N4N3, Q8N5G6, Q9H9U6

    4. XM_005256149.3 → XP_005256206.1  kelch-like protein 36 isoform X1

      See identical proteins and their annotated locations for XP_005256206.1

      UniProtKB/Swiss-Prot
      Q8N4N3, Q8N5G6, Q9H9U6
      Conserved Domains (6) summary
      smart00612
      Location:547 → 593
      Kelch; Kelch domain
      PHA03098
      Location:45 → 585
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:335 → 383
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:36 → 139
      BTB; BTB/POZ domain
      pfam01344
      Location:386 → 431
      Kelch_1; Kelch motif
      pfam07707
      Location:149 → 250
      BACK; BTB And C-terminal Kelch

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      90714793..90733970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313946.1 → XP_054169921.1  kelch-like protein 36 isoform X1

      UniProtKB/Swiss-Prot
      Q8N4N3, Q8N5G6, Q9H9U6

    2. XM_054313947.1 → XP_054169922.1  kelch-like protein 36 isoform X2

    3. XM_054313944.1 → XP_054169919.1  kelch-like protein 36 isoform X1

      UniProtKB/Swiss-Prot
      Q8N4N3, Q8N5G6, Q9H9U6

    4. XM_054313945.1 → XP_054169920.1  kelch-like protein 36 isoform X1

      UniProtKB/Swiss-Prot
      Q8N4N3, Q8N5G6, Q9H9U6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4N3.1 GenPept UniProtKB/Swiss-Prot:Q8N4N3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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