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    KLHL7 kelch like family member 7 [ Homo sapiens (human) ]

    Gene ID: 55975, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KLHL7provided by HGNC
    Official Full Name
    kelch like family member 7provided by HGNC
    Primary source
    HGNC:HGNC:15646
    See related
    Ensembl:ENSG00000122550 MIM:611119; AllianceGenome:HGNC:15646
    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
    CISS3; KLHL6; SBBI26; PERCHING
    Summary
    This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
    Expression
    Broad expression in heart (RPKM 18.6), testis (RPKM 12.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL7 in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23105785..23177914)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23242311..23314438)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23145404..23217533)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:23144592-23145578 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:23145579-23146565 Neighboring gene KLHL7 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:23153733-23154678 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:23155468-23156110 Neighboring gene AK3 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:23232880-23233451 Neighboring gene nucleoporin 42 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25721 Neighboring gene uncharacterized LOC101927890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25722

    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. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. Jeffries L, et al. Eur J Med Genet, 2019 Sep. PMID 30300710
    2. Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. Wen Y, et al. Arch Ophthalmol, 2011 Nov. PMID 22084217, Free PMC Article
    3. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. Hugosson T, et al. Arch Ophthalmol, 2010 Jun. PMID 20547956, Free PMC Article
    4. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Bruel AL, et al. J Med Genet, 2017 Dec. PMID 29074562
    5. Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera. Bredholt G, et al. Scand J Immunol, 2006 Sep. PMID 16918702

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
      Title: Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
    2. A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.
      Title: A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.
    3. Study found novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
      Title: Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
    4. A novel nonsense mutation in KLHL7 was identified in two siblings with multiple dysmorphic features and developmental delay.
      Title: Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
    5. KLHL7 appears to play an important role in BC progression. High KLHL7 protein expression identified a subgroup of BC with aggressive behaviour and provided independent prognostic information.
      Title: Clinical and biological roles of Kelch-like family member 7 in breast cancer: a marker of poor prognosis.
    6. We have expanded the clinical spectrum of KLHL7 autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 and BOS.
      Title: Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
    7. KLHL7 is a novel regulator of the nucleolus associated with TUT1 ubiquitination, and pathogenic KLHL7 mutants may provide valuable information to elucidate a mechanism of retinitis pigmentosa etiology.
      Title: KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa.
    8. data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype--but they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7
      Title: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
    9. The phenotypes are similar among patients with 3 types of KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A).
      Title: Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
    10. KLHL7 forms a dimer, assembles with Cul3 through its BTB and BACK domains, and exerts E3 activity.
      Title: Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    Associated conditions

    Description Tests
    PERCHING syndrome
    MedGen: C4310742 OMIM: 617055 GeneReviews: Not available
    		Compare labs
    Retinitis pigmentosa 42
    MedGen: C2751986 OMIM: 612943 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
    		Compare labs

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of kelch-like 7 (Drosophila) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    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 proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 7
    Names
    kelch-like 6
    kelch-like 7
    kelch/BTB

    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_016983.3 RefSeqGene

      Range
      5002..77131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031710.3 → NP_001026880.2  kelch-like protein 7 isoform 1

      See identical proteins and their annotated locations for NP_001026880.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC005082, AK056390, AK290479, BC039585, DC370850
      Consensus CDS
      CCDS34609.1
      UniProtKB/Swiss-Prot
      A4D144, B7Z5I9, G5E9G3, Q7Z765, Q8IXQ5, Q96MV2, Q9BQF8, Q9UDQ9
      UniProtKB/TrEMBL
      A8K364
      Related
      ENSP00000343273.4, ENST00000339077.10
      Conserved Domains (4) summary
      PHA03098
      Location:37 → 555
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:372 → 416
      Kelch; KELCH repeat [structural motif]
      cd18237
      Location:23 → 148
      BTB_POZ_KLHL7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 7 (KLHL7)
      cd18447
      Location:140 → 237
      BACK_KLHL7; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 7 (KLHL7)

    2. NM_001172428.2 → NP_001165899.1  kelch-like protein 7 isoform 3

      See identical proteins and their annotated locations for NP_001165899.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA432360, AF111113, DC370850
      Consensus CDS
      CCDS55095.1
      UniProtKB/Swiss-Prot
      Q8IXQ5
      Related
      ENSP00000323270.5, ENST00000322275.9
      Conserved Domains (1) summary
      cd18237
      Location:23 → 148
      BTB_POZ_KLHL7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 7 (KLHL7)

    3. NM_018846.5 → NP_061334.4  kelch-like protein 7 isoform 2

      See identical proteins and their annotated locations for NP_061334.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC005082, AK299006, BC039585, BG704835
      Consensus CDS
      CCDS5378.2
      UniProtKB/TrEMBL
      Q8IWW9
      Related
      ENSP00000386263.1, ENST00000409689.5
      Conserved Domains (4) summary
      PHA03098
      Location:6 → 507
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:324 → 368
      Kelch; KELCH repeat [structural motif]
      cd18447
      Location:92 → 189
      BACK_KLHL7; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 7 (KLHL7)
      cl38908
      Location:1 → 100
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    RNA

    1. NR_033328.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC005082, AK056390, AK297595, BC039585

    2. NR_033329.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA432360, BC009555, DC370850

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      23105785..23177914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715757.5 → XP_006715820.1  kelch-like protein 7 isoform X1

      Conserved Domains (3) summary
      smart00225
      Location:45 → 140
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:34 → 138
      BTB; BTB/POZ domain
      pfam07707
      Location:160 → 261
      BACK; BTB And C-terminal Kelch

    2. XM_017012440.3 → XP_016867929.1  kelch-like protein 7 isoform X2

    3. XM_047420615.1 → XP_047276571.1  kelch-like protein 7 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      23242311..23314438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358649.1 → XP_054214624.1  kelch-like protein 7 isoform X1

    2. XM_054358650.1 → XP_054214625.1  kelch-like protein 7 isoform X2

    3. XM_054358651.1 → XP_054214626.1  kelch-like protein 7 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXQ5.2 GenPept UniProtKB/Swiss-Prot:Q8IXQ5

    Gene LinkOut

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

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