Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	131377
Gene name	Kelch like family member 40
Gene symbol	KLHL40
Synonyms (NCBI Gene)	KBTBD5NEM8SRYPSYRP
Chromosome	3
Chromosome location	3p22.1
Summary	This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicke

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139588377	C>A,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs367579275	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397509419	G>A	Pathogenic	Missense variant, coding sequence variant
rs397509420	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397509421	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs752493018	A>T	Likely-pathogenic	Splice acceptor variant
rs752734208	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs758188096	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs763283033	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs777496833	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs778303947	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs778565563	G>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1085307627	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1186218257	G>T	Likely-pathogenic	Splice donor variant
rs1575218072	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1575218831	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1575219191	T>A	Likely-pathogenic	Splice donor variant

Show/Hide all (44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT648788	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT648787	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT648786	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT648785	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT648784	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT648783	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT648781	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT648782	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT648780	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT648779	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT648777	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT648778	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT648776	hsa-miR-6792-5p	HITS-CLIP	23824327
MIRT648775	hsa-miR-623	HITS-CLIP	23824327
MIRT648774	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT648773	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT648772	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT648771	hsa-miR-647	HITS-CLIP	23824327
MIRT648770	hsa-miR-6842-3p	HITS-CLIP	23824327
MIRT648769	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT648768	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT648767	hsa-miR-521	HITS-CLIP	23824327
MIRT648788	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT648787	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT648786	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT648785	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT648784	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT648783	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT648781	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT648782	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT648780	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT648779	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT648777	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT648778	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT648776	hsa-miR-6792-5p	HITS-CLIP	23824327
MIRT648775	hsa-miR-623	HITS-CLIP	23824327
MIRT648774	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT648773	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT648772	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT648771	hsa-miR-647	HITS-CLIP	23824327
MIRT648770	hsa-miR-6842-3p	HITS-CLIP	23824327
MIRT648769	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT648768	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT648767	hsa-miR-521	HITS-CLIP	23824327

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0031397	Process	Negative regulation of protein ubiquitination	IBA
GO:0031398	Process	Positive regulation of protein ubiquitination	ISS
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	ISS
GO:0031672	Component	A band	IBA
GO:0031672	Component	A band	IEA
GO:0031674	Component	I band	IBA
GO:0031674	Component	I band	IEA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0048741	Process	Skeletal muscle fiber development	IBA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048741	Process	Skeletal muscle fiber development	ISS
GO:0098528	Process	Skeletal muscle fiber differentiation	ISS
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

MIM	HGNC	e!Ensembl
615340	30372	ENSG00000157119

Q2TBA0

Protein name

Kelch-like protein 40 (Kelch repeat and BTB domain-containing protein 5) (Sarcosynapsin)

Protein function

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, the

PDB

4ASC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	23 → 128	BTB/POZ domain	Domain
PF07707	BACK	133 → 239	BTB And C-terminal Kelch	Domain
PF01344	Kelch_1	452 → 497	Kelch motif	Repeat
PF01344	Kelch_1	499 → 540	Kelch motif	Repeat
PF01344	Kelch_1	546 → 596	Kelch motif	Repeat

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Also expressed in fetal and adult heart. {ECO:000026

Sequence

MALGLEQAEEQRLYQQTLLQDGLKDMLDHGKFLDCVVRAGEREFPCHRLVLAACSPYFRA
RFLAEPERAGELHLEEVSPDVVAQVLHYLYTSEIALDEASVQDLFAAAHRFQIPSIFTIC
VSFLQKRLCLSNCLAVFRLGLLLDCARLAVAARDFICAHFTLVARDADFLGLSADELIAI
ISSDGLNVEKEEAVFEAVMRWAGSGDAEAQAERQRALPTVFESVRCRLLPRAFLESRVER
HPLVRAQPELLRKVQMVKDAHEGRITTLRKKKKGKDGAGAKEADKGTSKAKAEEDEEAER
ILPGILNDTLRFGMFLQDLIFMISEEGAVAYDPAANECYCASLSNQVPKNHVSLVTKENQ
VFVAGGLFYNEDNKEDPMSAYFLQFDHLDSEWLGMPPLPSPRCLFGLGEALNSIYVVGGR
EIKDGERCLDSVMCYDRLSFKWGESDPLPYVVYGHTVLSHMDLVYVIGGKGSDRKCLNKM
CVYDPKKFEWKELAPMQTARSLFGATVHDGRIIVAAGVTDTGLTSSAEVYSITDNKWAPF
EAFPQERSSLSLVSLVGTLYAIGGFATLETESGELVPTELNDIWRYNEEEKKWEGVLREI
AYAAGATFLPVRLNVLCLTKM

Sequence length

621

Interactions

View interactions

464

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
KLHL40-related disorder	Pathogenic	rs397509420	RCV004757124
Nemaline myopathy 8	Likely pathogenic; Pathogenic	rs768335581, rs1697319878, rs2125846068, rs770267750, rs1292866391, rs2125845625, rs1697260724, rs1055019439, rs2125844554, rs2125844563, rs1486566170, rs545767433, rs1440284508, rs924279167, rs573886282 View all (19 more)	RCV001330425 RCV001330424 RCV001526480 RCV001775224 RCV001908401 RCV002011710 RCV001941994 RCV001942963 RCV001956166 RCV001903694 RCV002211031 RCV002610260 RCV002619285 RCV002750173 RCV003315478 RCV003777334 RCV003582294 RCV003741892 RCV004555799 RCV000525790 RCV000651586 RCV000651589 RCV000692195 RCV000815537 RCV000806157 RCV000808744 RCV000054410 RCV000054411 RCV000054412 RCV000054413 RCV000054414 RCV000991417 RCV000995796 RCV001050162 RCV001224859 RCV001234977

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Death	Associate	25428687
Deglutition Disorders	Associate	35379254
Myopathies Nemaline	Associate	27528495, 32352246, 35379254
Myotonia Congenita	Associate	32352246
Neuromuscular Diseases	Associate	26578207, 32352246
Respiratory Insufficiency	Associate	32352246, 35379254
Scoliosis	Associate	25428687
Squamous Cell Carcinoma of Head and Neck	Associate	32931492

KLHL40 (kelch like family member 40)