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

Gene ID: 317719, updated on 17-Sep-2022

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; 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
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Genomic context

See KLHL10 in Genome Data Viewer
Location:
17q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41835685..41848384)
110 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 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 Neighboring gene uncharacterized LOC124904005

Genomic regions, transcripts, and products

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001329595.1NP_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, Q96MC0
    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, Q96MC0
    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 Annotation Release 110 details...Open this link in a new tab

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_047435897.1XP_047291853.1  kelch-like protein 10 isoform X1

    UniProtKB/Swiss-Prot
    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)