KLHDC1 (kelch domain containing 1)

Gene

• Entrez ID: 122773
• Gene name: Kelch domain containing 1
• Gene symbol: KLHDC1
• Synonyms (NCBI Gene): MST025
• Chromosome: 14
• Chromosome location: 14q21.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017967	hsa-miR-335-5p	Microarray	18185580
MIRT1097109	hsa-miR-101	CLIP-seq
MIRT1097110	hsa-miR-122	CLIP-seq
MIRT1097111	hsa-miR-1283	CLIP-seq
MIRT1097112	hsa-miR-144	CLIP-seq
MIRT1097113	hsa-miR-3122	CLIP-seq
MIRT1097114	hsa-miR-3617	CLIP-seq
MIRT1097115	hsa-miR-3675-3p	CLIP-seq
MIRT1097116	hsa-miR-3689a-3p	CLIP-seq
MIRT1097117	hsa-miR-3689c	CLIP-seq
MIRT1097118	hsa-miR-3913-5p	CLIP-seq
MIRT1097119	hsa-miR-4282	CLIP-seq
MIRT1097120	hsa-miR-4434	CLIP-seq
MIRT1097121	hsa-miR-4516	CLIP-seq
MIRT1097122	hsa-miR-4531	CLIP-seq
MIRT1097123	hsa-miR-4670-3p	CLIP-seq
MIRT1097124	hsa-miR-4693-3p	CLIP-seq
MIRT1097125	hsa-miR-4729	CLIP-seq
MIRT1097126	hsa-miR-4752	CLIP-seq
MIRT1097127	hsa-miR-4762-3p	CLIP-seq
MIRT1097128	hsa-miR-4775	CLIP-seq
MIRT1097129	hsa-miR-526b	CLIP-seq
MIRT1097130	hsa-miR-549	CLIP-seq
MIRT1097131	hsa-miR-590-3p	CLIP-seq
MIRT1097132	hsa-miR-606	CLIP-seq
MIRT1097133	hsa-miR-641	CLIP-seq
MIRT2257411	hsa-miR-3120-5p	CLIP-seq
MIRT2257412	hsa-miR-431	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005829	Component	Cytosol	IDA

Other IDs

• MIM: 611281
• HGNC: 19836
• e!Ensembl: ENSG00000197776

Protein

• UniProt ID: Q8N7A1
• Protein name: Kelch domain-containing protein 1
• Protein function: Substrate-recognition component of a Cul5-RING (CRL5) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13854	Kelch_5	11 → 54		Repeat
  PF13964	Kelch_6	67 → 124		Repeat
  PF13418	Kelch_4	196 → 246		Repeat
  PF13418	Kelch_4	247 → 295		Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with high levels in skeletal muscle, pancreas and liver. Undetectable in peripheral blood leukocytes. {ECO:0000269|PubMed:16964437}.
• Sequence:

  MADSQLFCVAEERSGHCAVVDGNFLYVWGGYVSIEDNEVYLPNDEIWTYDIDSGLWRMHL
  MEGELPASMSGSCGACINGKLYIFGGYDDKGYSNRLYFVNLRTRDETYIWEKITDFEGQP
  PTPRDKLSCWVYKDRLIYFGGYGCRRHSELQDCFDVHDASWEEQIFWGWHNDVHIFDTKT
  QTWFQPEIKGGVPPQPRAAHTCAVLGNKGYIFGGRVLQTRMNDLHYLNLDTWTWSGRITI
  NGESPKHRSWHTLTPIADDKLFLCGGLSADNIPLSDGWIHNVTTNCWKQLTHLPKTRPRL
  WHTACLGKENEIMVFGGSKDDLLALDTGHCNDLLIFQTQPYSLLRSCLDCIGKNSIMLES
  QISLLPPKLLQQVLKKITFWAAANHREEQRVQKEETENKYQWISSN

• Sequence length: 406

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	27402877