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

Gene ID: 79786, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 7.4), testis (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16q24.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84648511..84667686)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90714793..90733970)
105.20220307 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. Systematic proteomics of the VCP-UBXD adaptor network identifies a role for UBXN10 in regulating ciliogenesis. Raman M, et al. Nat Cell Biol, 2015 Oct. PMID 26389662, Free PMC Article

See all (23) 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)

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

  • 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 biological_process ND
No biological Data available
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
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_2023_10

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

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