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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	401265
Gene name	Kelch like family member 31
Gene symbol	KLHL31
Synonyms (NCBI Gene)	BKLHD6KBTBD1KLHLbA345L23.2
Chromosome	6
Chromosome location	6p12.1

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046987	hsa-miR-218-5p	CLASH	23622248
MIRT445845	hsa-miR-4311	PAR-CLIP	22100165
MIRT445844	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT445843	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445842	hsa-miR-4452	PAR-CLIP	22100165
MIRT445845	hsa-miR-4311	PAR-CLIP	22100165
MIRT445844	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT445843	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445842	hsa-miR-4452	PAR-CLIP	22100165
MIRT1098462	hsa-miR-1290	CLIP-seq
MIRT1098463	hsa-miR-186	CLIP-seq
MIRT1098464	hsa-miR-299-3p	CLIP-seq
MIRT1098465	hsa-miR-3125	CLIP-seq
MIRT1098466	hsa-miR-3133	CLIP-seq
MIRT1098467	hsa-miR-3153	CLIP-seq
MIRT1098468	hsa-miR-3167	CLIP-seq
MIRT1098469	hsa-miR-3183	CLIP-seq
MIRT1098470	hsa-miR-338-5p	CLIP-seq
MIRT1098471	hsa-miR-3614-5p	CLIP-seq
MIRT1098472	hsa-miR-3691-5p	CLIP-seq
MIRT1098473	hsa-miR-3916	CLIP-seq
MIRT1098474	hsa-miR-3924	CLIP-seq
MIRT1098475	hsa-miR-3941	CLIP-seq
MIRT1098476	hsa-miR-4280	CLIP-seq
MIRT1098477	hsa-miR-4302	CLIP-seq
MIRT1098478	hsa-miR-4303	CLIP-seq
MIRT1098479	hsa-miR-4307	CLIP-seq
MIRT1098480	hsa-miR-4434	CLIP-seq
MIRT1098481	hsa-miR-4436a	CLIP-seq
MIRT1098482	hsa-miR-4436b-5p	CLIP-seq
MIRT1098483	hsa-miR-4491	CLIP-seq
MIRT1098484	hsa-miR-4516	CLIP-seq
MIRT1098485	hsa-miR-4531	CLIP-seq
MIRT1098486	hsa-miR-455-5p	CLIP-seq
MIRT1098487	hsa-miR-4643	CLIP-seq
MIRT1098488	hsa-miR-4657	CLIP-seq
MIRT1098489	hsa-miR-466	CLIP-seq
MIRT1098490	hsa-miR-4666-3p	CLIP-seq
MIRT1098491	hsa-miR-4668-5p	CLIP-seq
MIRT1098492	hsa-miR-4672	CLIP-seq
MIRT1098493	hsa-miR-4682	CLIP-seq
MIRT1098494	hsa-miR-4684-3p	CLIP-seq
MIRT1098495	hsa-miR-4699-3p	CLIP-seq
MIRT1098496	hsa-miR-4714-3p	CLIP-seq
MIRT1098497	hsa-miR-4717-5p	CLIP-seq
MIRT1098498	hsa-miR-4723-3p	CLIP-seq
MIRT1098499	hsa-miR-4729	CLIP-seq
MIRT1098500	hsa-miR-4735-5p	CLIP-seq
MIRT1098501	hsa-miR-4744	CLIP-seq
MIRT1098502	hsa-miR-4752	CLIP-seq
MIRT1098503	hsa-miR-4762-3p	CLIP-seq
MIRT1098504	hsa-miR-4789-3p	CLIP-seq
MIRT1098505	hsa-miR-507	CLIP-seq
MIRT1098506	hsa-miR-515-5p	CLIP-seq
MIRT1098507	hsa-miR-516b	CLIP-seq
MIRT1098508	hsa-miR-550a	CLIP-seq
MIRT1098509	hsa-miR-557	CLIP-seq
MIRT1098510	hsa-miR-579	CLIP-seq
MIRT1098511	hsa-miR-627	CLIP-seq
MIRT1098512	hsa-miR-876-5p	CLIP-seq
MIRT1098513	hsa-miR-924	CLIP-seq
MIRT2026773	hsa-miR-125a-5p	CLIP-seq
MIRT2026774	hsa-miR-125b	CLIP-seq
MIRT2026775	hsa-miR-4319	CLIP-seq
MIRT2026776	hsa-miR-4732-3p	CLIP-seq
MIRT1098504	hsa-miR-4789-3p	CLIP-seq
MIRT2026777	hsa-miR-607	CLIP-seq
MIRT2026778	hsa-miR-670	CLIP-seq
MIRT1098463	hsa-miR-186	CLIP-seq
MIRT1098466	hsa-miR-3133	CLIP-seq
MIRT2257988	hsa-miR-3187-3p	CLIP-seq
MIRT2257989	hsa-miR-4435	CLIP-seq
MIRT1098481	hsa-miR-4436a	CLIP-seq
MIRT2257990	hsa-miR-4701-5p	CLIP-seq
MIRT1098496	hsa-miR-4714-3p	CLIP-seq
MIRT1098500	hsa-miR-4735-5p	CLIP-seq
MIRT1098505	hsa-miR-507	CLIP-seq
MIRT2257991	hsa-miR-548s	CLIP-seq
MIRT1098509	hsa-miR-557	CLIP-seq
MIRT2257992	hsa-miR-588	CLIP-seq
MIRT2257993	hsa-miR-665	CLIP-seq
MIRT2389963	hsa-miR-4700-3p	CLIP-seq
MIRT2389964	hsa-miR-512-5p	CLIP-seq
MIRT2389965	hsa-miR-513a-5p	CLIP-seq
MIRT2452675	hsa-miR-1236	CLIP-seq
MIRT2452676	hsa-miR-3675-3p	CLIP-seq
MIRT2452677	hsa-miR-4528	CLIP-seq
MIRT2452678	hsa-miR-942	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001933	Process	Negative regulation of protein phosphorylation	IMP	18719355
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18719355
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	18719355
GO:0005737	Component	Cytoplasm	IEA
GO:0046329	Process	Negative regulation of JNK cascade	IBA
GO:0046329	Process	Negative regulation of JNK cascade	IMP	18719355

MIM	HGNC	e!Ensembl
610749	21353	ENSG00000124743

Q9H511

Protein name

Kelch-like protein 31 (BTB and kelch domain-containing protein 6) (Kelch repeat and BTB domain-containing protein 1) (Kelch-like protein KLHL)

Protein function

Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE). {ECO:0000269|PubMed:18719355}

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	63 → 167	BTB/POZ domain	Domain
PF07707	BACK	172 → 273	BTB And C-terminal Kelch	Domain
PF13964	Kelch_6	352 → 409		Repeat
PF01344	Kelch_1	408 → 453	Kelch motif	Repeat
PF01344	Kelch_1	455 → 500	Kelch motif	Repeat
PF01344	Kelch_1	502 → 552	Kelch motif	Repeat
PF01344	Kelch_1	555 → 598	Kelch motif	Repeat

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in skeletal muscle and weakly in heart. According to PubMed:15302408, not expressed in other tissues. According to PubMed:18719355, abundantly expressed in both embryonic skeletal and heart tissues. {ECO:0000269|PubM

Sequence

MAPKKKIVKKNKGDINEMTIIVEDSPLNKLNALNGLLEGGNGLSCISSELTDASYGPNLL
EGLSKMRQENFLCDLVIGTKTKSFDVHKSVMASCSEYFYNILKKDPSIQRVDLNDISPLG
LATVIAYAYTGKLTLSLYTIGSIISAAVYLQIHTLVKMCSDFLIREMSVENCMYVVNIAE
TYSLKNAKAAAQKFIRDNFLEFAESDQFMKLTFEQINELLIDDDLQLPSEIVAFQIAMKW
LEFDQKRVKYAADLLSNIRFGTISAQDLVNYVQSVPRMMQDADCHRLLVDAMNYHLLPYH
QNTLQSRRTRIRGGCRVLVTVGGRPGLTEKSLSRDILYRDPENGWSKLTEMPAKSFNQCV
AVMDGFLYVAGGEDQNDARNQAKHAVSNFCRYDPRFNTWIHLASMNQKRTHFSLSVFNGL
VYAAGGRNAEGSLASLECYVPSTNQWQPKTPLEVARCCHASAVADGRVLVTGGYIANAYS
RSVCAYDPASDSWQELPNLSTPRGWHCAVTLSDRVYVMGGSQLGPRGERVDVLTVECYSP
ATGQWSYAAPLQVGVSTAGVSALHGRAYLVGGWNEGEKKYKKCIQCFSPELNEWTEDDEL
PEATVGVSCCTLSMPNNVTRESRASSVSSVPVSI

Sequence length

634

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma	Carcinoma	BEFREE	30647843	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	28872460	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23676014, 30647843	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30647843	★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHL31 (kelch like family member 31)