KLHL17 (kelch like family member 17)

Gene

• Entrez ID: 339451
• Gene name: Kelch like family member 17
• Gene symbol: KLHL17
• Synonyms (NCBI Gene): AF
• Chromosome: 1
• Chromosome location: 1p36.33
• Summary: The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may pla

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018687	hsa-miR-335-5p	Microarray	18185580
MIRT1097683	hsa-miR-1197	CLIP-seq
MIRT1097684	hsa-miR-183	CLIP-seq
MIRT1097685	hsa-miR-2682	CLIP-seq
MIRT1097686	hsa-miR-3129-3p	CLIP-seq
MIRT1097687	hsa-miR-34a	CLIP-seq
MIRT1097688	hsa-miR-34c-5p	CLIP-seq
MIRT1097689	hsa-miR-4426	CLIP-seq
MIRT1097690	hsa-miR-449a	CLIP-seq
MIRT1097691	hsa-miR-449b	CLIP-seq
MIRT1097692	hsa-miR-449c	CLIP-seq
MIRT1097693	hsa-miR-4647	CLIP-seq
MIRT1097694	hsa-miR-4662a-3p	CLIP-seq
MIRT1097695	hsa-miR-4662b	CLIP-seq
MIRT1097696	hsa-miR-577	CLIP-seq
MIRT2026509	hsa-miR-2276	CLIP-seq
MIRT2026510	hsa-miR-4708-3p	CLIP-seq
MIRT2026511	hsa-miR-596	CLIP-seq
MIRT2257605	hsa-miR-4476	CLIP-seq
MIRT2257606	hsa-miR-4533	CLIP-seq
MIRT2389933	hsa-miR-1286	CLIP-seq
MIRT2389934	hsa-miR-4292	CLIP-seq
MIRT2389935	hsa-miR-4308	CLIP-seq
MIRT2389936	hsa-miR-4447	CLIP-seq
MIRT2389937	hsa-miR-4456	CLIP-seq
MIRT2389938	hsa-miR-4472	CLIP-seq
MIRT2389939	hsa-miR-4488	CLIP-seq
MIRT2389940	hsa-miR-4697-5p	CLIP-seq
MIRT2389941	hsa-miR-541	CLIP-seq
MIRT2389942	hsa-miR-652	CLIP-seq
MIRT2389943	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0045202	Component	Synapse	IEA
GO:0060090	Function	Molecular adaptor activity	ISS
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

Other IDs

• MIM: 619262
• HGNC: 24023
• e!Ensembl: ENSG00000187961

Protein

• UniProt ID: Q6TDP4
• Protein name: Kelch-like protein 17 (Actinfilin)
• Protein function: Substrate-recognition component of some cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes. The BCR(KLHL17) complex mediates the ubiquitination and subsequent degradation of GLUR6. May play a role in the actin-based neur
• PDB: 6HRL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	82 → 189	BTB/POZ domain	Domain
  PF07707	BACK	194 → 296	BTB And C-terminal Kelch	Domain
  PF01344	Kelch_1	334 → 376	Kelch motif	Repeat
  PF01344	Kelch_1	378 → 423	Kelch motif	Repeat
  PF01344	Kelch_1	425 → 470	Kelch motif	Repeat
  PF01344	Kelch_1	472 → 517	Kelch motif	Repeat
  PF01344	Kelch_1	519 → 564	Kelch motif	Repeat
  PF01344	Kelch_1	566 → 610	Kelch motif	Repeat

• Sequence:

  MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLL
  SREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAM
  FTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDA
  CCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLE
  LVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESL
  VRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCE
  AYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEV
  SMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVAT
  LDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDG
  TSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPR
  TNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL

• Sequence length: 642

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs756054473	RCV001172295	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANORECTAL MALFORMATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	28912426	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	40307206	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35978057	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35978057	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40307206	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35978057	Stimulate	★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	BEFREE	21694734		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	21694734	Associate	★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	21694734		★☆☆☆☆ Found in Text Mining only