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    KLHL10 kelch like family member 10 [ Homo sapiens (human) ]

    Gene ID: 317719, updated on 5-Mar-2024

    Summary

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    Official Symbol
    KLHL10provided by HGNC
    Official Full Name
    kelch like family member 10provided by HGNC
    Primary source
    HGNC:HGNC:18829
    See related
    Ensembl:ENSG00000161594 MIM:608778; AllianceGenome:HGNC:18829
    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
    SPGF11
    Summary
    The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]
    Expression
    Restricted expression toward testis (RPKM 27.6) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41835685..41848384)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42692241..42704935)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39991937..40004636)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39971057-39971558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39971559-39972058 Neighboring gene prolyl 3-hydroxylase family member 4 (inactive) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39974907-39975818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39975819-39976730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39977650-39978248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39978249-39978845 Neighboring gene FKBP prolyl isomerase 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8501 Neighboring gene 5'-nucleotidase, cytosolic IIIB Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12174 Neighboring gene kelch like family member 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40019607-40020116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8503 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40021860-40022360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40022361-40022861 Neighboring gene ATP citrate lyase Neighboring gene uncharacterized LOC124904005 Neighboring gene MPRA-validated peak2844 silencer

    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. [Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia]. Qiu QM, et al. Zhonghua Nan Ke Xue, 2009 Nov. PMID 20218307
    2. Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice. Yan W, et al. Proc Natl Acad Sci U S A, 2004 May 18. PMID 15136734, Free PMC Article
    3. Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. Yatsenko AN, et al. Hum Mol Genet, 2006 Dec 1. PMID 17047026
    4. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
    5. High throughput RNAi screening identifies ID1 as a synthetic sick/lethal gene interacting with the common TP53 mutation R175H. Imai H, et al. Oncol Rep, 2014 Mar. PMID 24378760, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The KLHL-10 gene is not a major contributor to azoospermia, oligospermia or asthenospermia in Chinese population.
      Title: [Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia].
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: [Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia].
    Submit: New GeneRIF Correction

    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
    Spermatogenic failure 11
    MedGen: C3554453 OMIM: 615081 GeneReviews: Not available
    		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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32662

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male genitalia morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 10
    Names
    testicular tissue protein Li 104

    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_051246.1 RefSeqGene

      Range
      7141..17700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329595.1 → NP_001316524.1  kelch-like protein 10 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AY495339, DA361625
      Consensus CDS
      CCDS42340.1
      UniProtKB/Swiss-Prot
      Q6JEL2, Q6NW28, Q96MC0
      UniProtKB/TrEMBL
      A0A140VJM8
      Conserved Domains (6) summary
      smart00612
      Location:434 → 480
      Kelch; Kelch domain
      smart00875
      Location:141 → 242
      BACK; BTB And C-terminal Kelch
      PHA03098
      Location:36 → 572
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:329 → 372
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:29 → 133
      BTB; BTB/POZ domain
      pfam01344
      Location:375 → 419
      Kelch_1; Kelch motif

    2. NM_001329596.2 → NP_001316525.1  kelch-like protein 10 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in its 5' terminal exon compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC125257, AK301797, AY495339, DB021233
      UniProtKB/TrEMBL
      B4DX37

    3. NM_152467.5 → NP_689680.2  kelch-like protein 10 isoform 1

      See identical proteins and their annotated locations for NP_689680.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1)
      Source sequence(s)
      AC125257, AY495339
      Consensus CDS
      CCDS42340.1
      UniProtKB/Swiss-Prot
      Q6JEL2, Q6NW28, Q96MC0
      UniProtKB/TrEMBL
      A0A140VJM8
      Related
      ENSP00000293303.4, ENST00000293303.5
      Conserved Domains (6) summary
      smart00612
      Location:434 → 480
      Kelch; Kelch domain
      smart00875
      Location:141 → 242
      BACK; BTB And C-terminal Kelch
      PHA03098
      Location:36 → 572
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:329 → 372
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:29 → 133
      BTB; BTB/POZ domain
      pfam01344
      Location:375 → 419
      Kelch_1; Kelch motif

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      41835685..41848384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435897.1 → XP_047291853.1  kelch-like protein 10 isoform X1

      UniProtKB/Swiss-Prot
      Q6JEL2, Q6NW28, Q96MC0
      UniProtKB/TrEMBL
      A0A140VJM8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      42692241..42704935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315915.1 → XP_054171890.1  kelch-like protein 10 isoform X1

      UniProtKB/Swiss-Prot
      Q6JEL2, Q6NW28, Q96MC0
      UniProtKB/TrEMBL
      A0A140VJM8

    2. XM_054315914.1 → XP_054171889.1  kelch-like protein 10 isoform X1

      UniProtKB/Swiss-Prot
      Q6JEL2, Q6NW28, Q96MC0
      UniProtKB/TrEMBL
      A0A140VJM8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6JEL2.1 GenPept UniProtKB/Swiss-Prot:Q6JEL2

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