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KLHL17 kelch like family member 17 [ Homo sapiens (human) ]

Gene ID: 339451, updated on 5-Mar-2024

Summary

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Official Symbol
KLHL17provided by HGNC
Official Full Name
kelch like family member 17provided by HGNC
Primary source
HGNC:HGNC:24023
See related
Ensembl:ENSG00000187961 MIM:619262; AllianceGenome:HGNC:24023
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AF
Summary
The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 2.8) and 24 other tissues See more
Orthologs
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Genomic context

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See KLHL17 in Genome Data Viewer
Location:
1p36.33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (960584..965719)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (389374..394430)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (895964..901099)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC284600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:855570-856506 Neighboring gene collagen alpha-1(III) chain-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:858348-858926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:860592-861138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:864095-864596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:865404-865904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:865905-866405 Neighboring gene sterile alpha motif domain containing 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:873315-874026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4 Neighboring gene NOC2 like nucleolar associated transcriptional repressor Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:893904-894761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11 Neighboring gene pleckstrin homology domain containing N1 Neighboring gene PPARGC1 and ESRR induced regulator, muscle 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14 Neighboring gene hes family bHLH transcription factor 4

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. Actinfilin, a brain-specific actin-binding protein in postsynaptic density. Chen Y, et al. J Biol Chem, 2002 Aug 23. PMID 12063253
  2. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
  3. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. Böhm D, et al. Oncol Rep, 2012 Aug. PMID 22664934, Free PMC Article
  4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461, Free PMC Article

See all (12) 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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables POZ domain binding IEA
Inferred from Electronic Annotation
more info
  
enables actin filament binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation protein catabolic process at postsynapse IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular space HDA PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
kelch-like protein 17
Names
actinfilin
kelch-like 17

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.

Genomic

  1. NG_027546.1 RefSeqGene

    Range
    4998..10133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_198317.3 → NP_938073.1  kelch-like protein 17

    See identical proteins and their annotated locations for NP_938073.1

    Status: REVIEWED

    Source sequence(s)
    AA774437, AL645608, AY423763, CA432461
    Consensus CDS
    CCDS30550.1
    UniProtKB/Swiss-Prot
    Q5SV94, Q6TDP4
    Related
    ENSP00000343930.3, ENST00000338591.8
    Conserved Domains (5) summary
    smart00612
    Location:579 → 623
    Kelch; Kelch domain
    PHA03098
    Location:92 → 558
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:426 → 469
    Kelch; KELCH repeat [structural motif]
    cd18246
    Location:53 → 191
    BTB_POZ_KLHL17_actinfilin; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 17 (KLHL17)
    cd18456
    Location:189 → 290
    BACK_KLHL17; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 17 (KLHL17)

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    960584..965719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710600.4 → XP_006710663.2  kelch-like protein 17 isoform X3

  2. XM_006710601.4 → XP_006710664.2  kelch-like protein 17 isoform X5

  3. XM_047419226.1 → XP_047275182.1  kelch-like protein 17 isoform X4

  4. XM_047419224.1 → XP_047275180.1  kelch-like protein 17 isoform X1

  5. XM_047419225.1 → XP_047275181.1  kelch-like protein 17 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    389374..394430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336254.1 → XP_054192229.1  kelch-like protein 17 isoform X3

  2. XM_054336256.1 → XP_054192231.1  kelch-like protein 17 isoform X6

  3. XM_054336257.1 → XP_054192232.1  kelch-like protein 17 isoform X5

  4. XM_054336255.1 → XP_054192230.1  kelch-like protein 17 isoform X4

  5. XM_054336252.1 → XP_054192227.1  kelch-like protein 17 isoform X1

  6. XM_054336253.1 → XP_054192228.1  kelch-like protein 17 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6TDP4.1 GenPept UniProtKB/Swiss-Prot:Q6TDP4

Gene LinkOut

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