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

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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].
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cda17c01 (e-PCR)
- UniSTS:89888

RH35998 (e-PCR)
- UniSTS:62623

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

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 proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor 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
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
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

NG_051246.1 RefSeqGene

Range

7141..17700

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

41835685..41848384

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060941.1 Alternate T2T-CHM13v2.0

Range

42692241..42704935

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q6JEL2, Q6NW28, Q96MC0

UniProtKB/TrEMBL

A0A140VJM8
XM_054315914.1 → XP_054171889.1 kelch-like protein 10 isoform X1

UniProtKB/Swiss-Prot

Q6JEL2, Q6NW28, Q96MC0

UniProtKB/TrEMBL

A0A140VJM8