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

    Gene ID: 55975, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KLHL7 in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23105785..23177914)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23242311..23314438)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    Process Evidence Code Pubs
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001031710.3NP_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:37555
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:372416
      Kelch; KELCH repeat [structural motif]
      cd18237
      Location:23148
      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:140237
      BACK_KLHL7; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 7 (KLHL7)
    2. NM_001172428.2NP_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:23148
      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_018846.5NP_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:6507
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:324368
      Kelch; KELCH repeat [structural motif]
      cd18447
      Location:92189
      BACK_KLHL7; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 7 (KLHL7)
      cl38908
      Location:1100
      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_2023_10

    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_006715757.5XP_006715820.1  kelch-like protein 7 isoform X1

      Conserved Domains (3) summary
      smart00225
      Location:45140
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:34138
      BTB; BTB/POZ domain
      pfam07707
      Location:160261
      BACK; BTB And C-terminal Kelch
    2. XM_017012440.3XP_016867929.1  kelch-like protein 7 isoform X2

    3. XM_047420615.1XP_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_054358649.1XP_054214624.1  kelch-like protein 7 isoform X1

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

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