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

Gene ID: 317719, updated on 12-Sep-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41835685..41848384)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42692241..42704935)
RS_2024_09 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 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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_2024_08

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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