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

Gene ID: 317719, updated on 1-Jun-2020

Summary

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
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

Genomic context

See KLHL10 in Genome Data Viewer
Location:
17q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (41835685..41848384)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39992572..40004599)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene prolyl 3-hydroxylase family member 4 (inactive) Neighboring gene FKBP prolyl isomerase 10 Neighboring gene 5'-nucleotidase, cytosolic IIIB Neighboring gene kelch like family member 11 Neighboring gene ATP citrate lyase

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32662

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
fertilization IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
male genitalia morphogenesis IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..17684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329595.1NP_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
    UniProtKB/TrEMBL
    A0A140VJM8
    Conserved Domains (6) summary
    smart00612
    Location:434480
    Kelch; Kelch domain
    smart00875
    Location:141242
    BACK; BTB And C-terminal Kelch
    PHA03098
    Location:36572
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:329372
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:29133
    BTB; BTB/POZ domain
    pfam01344
    Location:375419
    Kelch_1; Kelch motif
  2. NM_001329596.2NP_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/Swiss-Prot
    Q6JEL2
    UniProtKB/TrEMBL
    B4DX37
  3. NM_152467.5NP_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
    UniProtKB/TrEMBL
    A0A140VJM8
    Related
    ENSP00000293303.4, ENST00000293303.5
    Conserved Domains (6) summary
    smart00612
    Location:434480
    Kelch; Kelch domain
    smart00875
    Location:141242
    BACK; BTB And C-terminal Kelch
    PHA03098
    Location:36572
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:329372
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:29133
    BTB; BTB/POZ domain
    pfam01344
    Location:375419
    Kelch_1; Kelch motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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