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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
    mouse all
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    Genomic context

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    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

    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

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

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