ENC1 (ectodermal-neural cortex 1)

Gene

• Entrez ID: 8507
• Gene name: Ectodermal-neural cortex 1
• Gene symbol: ENC1
• Synonyms (NCBI Gene): CCL28, ENC-1, KLHL35, KLHL37, NRPB, PIG10, TP53I10
• Chromosome: 5
• Chromosome location: 5q13.3
• Summary: This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024264	hsa-miR-215-5p	Microarray	19074876
MIRT026945	hsa-miR-192-5p	Microarray	19074876
MIRT037951	hsa-miR-505-5p	CLASH	23622248
MIRT558144	hsa-miR-6507-3p	PAR-CLIP	21572407
MIRT558143	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT558142	hsa-miR-224-5p	PAR-CLIP	21572407
MIRT558140	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT558141	hsa-miR-3153	PAR-CLIP	21572407
MIRT558139	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT558138	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT558144	hsa-miR-6507-3p	PAR-CLIP	21572407
MIRT558143	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT558142	hsa-miR-224-5p	PAR-CLIP	21572407
MIRT558140	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT558141	hsa-miR-3153	PAR-CLIP	21572407
MIRT558139	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT558138	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT963202	hsa-miR-103a	CLIP-seq
MIRT963203	hsa-miR-103b	CLIP-seq
MIRT963204	hsa-miR-107	CLIP-seq
MIRT963205	hsa-miR-1179	CLIP-seq
MIRT963206	hsa-miR-1207-3p	CLIP-seq
MIRT963207	hsa-miR-1236	CLIP-seq
MIRT963208	hsa-miR-1245b-3p	CLIP-seq
MIRT963209	hsa-miR-1256	CLIP-seq
MIRT963210	hsa-miR-1273g	CLIP-seq
MIRT963211	hsa-miR-1278	CLIP-seq
MIRT963212	hsa-miR-1287	CLIP-seq
MIRT963213	hsa-miR-1303	CLIP-seq
MIRT963214	hsa-miR-1343	CLIP-seq
MIRT963215	hsa-miR-138	CLIP-seq
MIRT963216	hsa-miR-145	CLIP-seq
MIRT963217	hsa-miR-15a	CLIP-seq
MIRT963218	hsa-miR-15b	CLIP-seq
MIRT963219	hsa-miR-16	CLIP-seq
MIRT963220	hsa-miR-1825	CLIP-seq
MIRT963221	hsa-miR-183	CLIP-seq
MIRT963222	hsa-miR-184	CLIP-seq
MIRT963223	hsa-miR-185	CLIP-seq
MIRT963224	hsa-miR-18a	CLIP-seq
MIRT963225	hsa-miR-18b	CLIP-seq
MIRT963226	hsa-miR-191	CLIP-seq
MIRT963227	hsa-miR-195	CLIP-seq
MIRT963228	hsa-miR-198	CLIP-seq
MIRT963229	hsa-miR-199a-5p	CLIP-seq
MIRT963230	hsa-miR-199b-5p	CLIP-seq
MIRT963231	hsa-miR-19a	CLIP-seq
MIRT963232	hsa-miR-19b	CLIP-seq
MIRT963233	hsa-miR-2278	CLIP-seq
MIRT963234	hsa-miR-3120-3p	CLIP-seq
MIRT963235	hsa-miR-3126-5p	CLIP-seq
MIRT963236	hsa-miR-3135b	CLIP-seq
MIRT963237	hsa-miR-3150a-3p	CLIP-seq
MIRT963238	hsa-miR-3154	CLIP-seq
MIRT963239	hsa-miR-3167	CLIP-seq
MIRT963240	hsa-miR-3175	CLIP-seq
MIRT963241	hsa-miR-3180-5p	CLIP-seq
MIRT963242	hsa-miR-3188	CLIP-seq
MIRT963243	hsa-miR-330-3p	CLIP-seq
MIRT963244	hsa-miR-338-3p	CLIP-seq
MIRT963245	hsa-miR-339-5p	CLIP-seq
MIRT963246	hsa-miR-33a	CLIP-seq
MIRT963247	hsa-miR-33b	CLIP-seq
MIRT963248	hsa-miR-3545-5p	CLIP-seq
MIRT963249	hsa-miR-3607-5p	CLIP-seq
MIRT963250	hsa-miR-3611	CLIP-seq
MIRT963251	hsa-miR-3612	CLIP-seq
MIRT963252	hsa-miR-361-5p	CLIP-seq
MIRT963253	hsa-miR-3622b-5p	CLIP-seq
MIRT963254	hsa-miR-3650	CLIP-seq
MIRT963255	hsa-miR-3667-3p	CLIP-seq
MIRT963256	hsa-miR-3689a-5p	CLIP-seq
MIRT963257	hsa-miR-3689b	CLIP-seq
MIRT963258	hsa-miR-3689e	CLIP-seq
MIRT963259	hsa-miR-3689f	CLIP-seq
MIRT963260	hsa-miR-377	CLIP-seq
MIRT963261	hsa-miR-3911	CLIP-seq
MIRT963262	hsa-miR-3925-3p	CLIP-seq
MIRT963263	hsa-miR-3944-5p	CLIP-seq
MIRT963264	hsa-miR-3978	CLIP-seq
MIRT963265	hsa-miR-421	CLIP-seq
MIRT963266	hsa-miR-424	CLIP-seq
MIRT963267	hsa-miR-4251	CLIP-seq
MIRT963268	hsa-miR-4267	CLIP-seq
MIRT963269	hsa-miR-4291	CLIP-seq
MIRT963270	hsa-miR-4306	CLIP-seq
MIRT963271	hsa-miR-431	CLIP-seq
MIRT963272	hsa-miR-4310	CLIP-seq
MIRT963273	hsa-miR-4318	CLIP-seq
MIRT963274	hsa-miR-4329	CLIP-seq
MIRT963275	hsa-miR-4421	CLIP-seq
MIRT963276	hsa-miR-4422	CLIP-seq
MIRT963277	hsa-miR-4434	CLIP-seq
MIRT963278	hsa-miR-4436b-3p	CLIP-seq
MIRT963279	hsa-miR-4443	CLIP-seq
MIRT963280	hsa-miR-4444	CLIP-seq
MIRT963281	hsa-miR-4446-5p	CLIP-seq
MIRT963282	hsa-miR-4468	CLIP-seq
MIRT963283	hsa-miR-4470	CLIP-seq
MIRT963284	hsa-miR-4477b	CLIP-seq
MIRT963285	hsa-miR-4481	CLIP-seq
MIRT963286	hsa-miR-4495	CLIP-seq
MIRT963287	hsa-miR-4516	CLIP-seq
MIRT963288	hsa-miR-4530	CLIP-seq
MIRT963289	hsa-miR-4644	CLIP-seq
MIRT963290	hsa-miR-4659a-3p	CLIP-seq
MIRT963291	hsa-miR-4659b-3p	CLIP-seq
MIRT963292	hsa-miR-4662a-5p	CLIP-seq
MIRT963293	hsa-miR-4666-5p	CLIP-seq
MIRT963294	hsa-miR-4667-5p	CLIP-seq
MIRT963295	hsa-miR-4668-5p	CLIP-seq
MIRT963296	hsa-miR-4677-3p	CLIP-seq
MIRT963297	hsa-miR-4679	CLIP-seq
MIRT963298	hsa-miR-4684-5p	CLIP-seq
MIRT963299	hsa-miR-4691-3p	CLIP-seq
MIRT963300	hsa-miR-4693-5p	CLIP-seq
MIRT963301	hsa-miR-4698	CLIP-seq
MIRT963302	hsa-miR-4700-5p	CLIP-seq
MIRT963303	hsa-miR-4704-3p	CLIP-seq
MIRT963304	hsa-miR-4709-5p	CLIP-seq
MIRT963305	hsa-miR-4710	CLIP-seq
MIRT963306	hsa-miR-4717-3p	CLIP-seq
MIRT963307	hsa-miR-4731-3p	CLIP-seq
MIRT963308	hsa-miR-4735-3p	CLIP-seq
MIRT963309	hsa-miR-4745-5p	CLIP-seq
MIRT963310	hsa-miR-4753-3p	CLIP-seq
MIRT963311	hsa-miR-4761-5p	CLIP-seq
MIRT963312	hsa-miR-4768-5p	CLIP-seq
MIRT963313	hsa-miR-4773	CLIP-seq
MIRT963314	hsa-miR-4789-5p	CLIP-seq
MIRT963315	hsa-miR-4792	CLIP-seq
MIRT963316	hsa-miR-4793-5p	CLIP-seq
MIRT963317	hsa-miR-4797-5p	CLIP-seq
MIRT963318	hsa-miR-4801	CLIP-seq
MIRT963319	hsa-miR-4804-5p	CLIP-seq
MIRT963320	hsa-miR-489	CLIP-seq
MIRT963321	hsa-miR-491-3p	CLIP-seq
MIRT963322	hsa-miR-491-5p	CLIP-seq
MIRT963323	hsa-miR-497	CLIP-seq
MIRT963324	hsa-miR-498	CLIP-seq
MIRT963325	hsa-miR-539	CLIP-seq
MIRT963326	hsa-miR-548k	CLIP-seq
MIRT963327	hsa-miR-548n	CLIP-seq
MIRT963328	hsa-miR-548p	CLIP-seq
MIRT963329	hsa-miR-548t	CLIP-seq
MIRT963330	hsa-miR-587	CLIP-seq
MIRT963331	hsa-miR-624	CLIP-seq
MIRT963332	hsa-miR-627	CLIP-seq
MIRT963333	hsa-miR-646	CLIP-seq
MIRT963334	hsa-miR-650	CLIP-seq
MIRT963335	hsa-miR-665	CLIP-seq
MIRT963336	hsa-miR-670	CLIP-seq
MIRT963337	hsa-miR-766	CLIP-seq
MIRT963338	hsa-miR-875-3p	CLIP-seq
MIRT963339	hsa-miR-876-5p	CLIP-seq
MIRT963340	hsa-miR-892a	CLIP-seq
MIRT963341	hsa-miR-922	CLIP-seq
MIRT963342	hsa-miR-924	CLIP-seq
MIRT963343	hsa-miR-939	CLIP-seq
MIRT1985508	hsa-miR-1178	CLIP-seq
MIRT963206	hsa-miR-1207-3p	CLIP-seq
MIRT1985509	hsa-miR-1275	CLIP-seq
MIRT1985510	hsa-miR-1279	CLIP-seq
MIRT963215	hsa-miR-138	CLIP-seq
MIRT1985511	hsa-miR-1587	CLIP-seq
MIRT963217	hsa-miR-15a	CLIP-seq
MIRT963218	hsa-miR-15b	CLIP-seq
MIRT963219	hsa-miR-16	CLIP-seq
MIRT963224	hsa-miR-18a	CLIP-seq
MIRT963225	hsa-miR-18b	CLIP-seq
MIRT963227	hsa-miR-195	CLIP-seq
MIRT1985512	hsa-miR-2113	CLIP-seq
MIRT1985513	hsa-miR-216a	CLIP-seq
MIRT1985514	hsa-miR-224	CLIP-seq
MIRT963234	hsa-miR-3120-3p	CLIP-seq
MIRT1985515	hsa-miR-3121-3p	CLIP-seq
MIRT1985516	hsa-miR-3147	CLIP-seq
MIRT963237	hsa-miR-3150a-3p	CLIP-seq
MIRT963238	hsa-miR-3154	CLIP-seq
MIRT963240	hsa-miR-3175	CLIP-seq
MIRT963244	hsa-miR-338-3p	CLIP-seq
MIRT1985517	hsa-miR-340	CLIP-seq
MIRT1985518	hsa-miR-3615	CLIP-seq
MIRT963254	hsa-miR-3650	CLIP-seq
MIRT963256	hsa-miR-3689a-5p	CLIP-seq
MIRT963257	hsa-miR-3689b	CLIP-seq
MIRT963258	hsa-miR-3689e	CLIP-seq
MIRT963259	hsa-miR-3689f	CLIP-seq
MIRT1985519	hsa-miR-3908	CLIP-seq
MIRT963261	hsa-miR-3911	CLIP-seq
MIRT1985520	hsa-miR-3917	CLIP-seq
MIRT963262	hsa-miR-3925-3p	CLIP-seq
MIRT963263	hsa-miR-3944-5p	CLIP-seq
MIRT963265	hsa-miR-421	CLIP-seq
MIRT963266	hsa-miR-424	CLIP-seq
MIRT1985521	hsa-miR-4259	CLIP-seq
MIRT1985522	hsa-miR-4289	CLIP-seq
MIRT963269	hsa-miR-4291	CLIP-seq
MIRT963271	hsa-miR-431	CLIP-seq
MIRT963272	hsa-miR-4310	CLIP-seq
MIRT963274	hsa-miR-4329	CLIP-seq
MIRT963277	hsa-miR-4434	CLIP-seq
MIRT963278	hsa-miR-4436b-3p	CLIP-seq
MIRT963281	hsa-miR-4446-5p	CLIP-seq
MIRT963287	hsa-miR-4516	CLIP-seq
MIRT1985523	hsa-miR-4525	CLIP-seq
MIRT963288	hsa-miR-4530	CLIP-seq
MIRT1985524	hsa-miR-4639-3p	CLIP-seq
MIRT1985525	hsa-miR-4665-5p	CLIP-seq
MIRT1985526	hsa-miR-4674	CLIP-seq
MIRT963296	hsa-miR-4677-3p	CLIP-seq
MIRT963297	hsa-miR-4679	CLIP-seq
MIRT1985527	hsa-miR-4690-3p	CLIP-seq
MIRT963303	hsa-miR-4704-3p	CLIP-seq
MIRT963304	hsa-miR-4709-5p	CLIP-seq
MIRT1985528	hsa-miR-4723-5p	CLIP-seq
MIRT963308	hsa-miR-4735-3p	CLIP-seq
MIRT963310	hsa-miR-4753-3p	CLIP-seq
MIRT1985529	hsa-miR-4775	CLIP-seq
MIRT963315	hsa-miR-4792	CLIP-seq
MIRT963323	hsa-miR-497	CLIP-seq
MIRT963325	hsa-miR-539	CLIP-seq
MIRT1985530	hsa-miR-561	CLIP-seq
MIRT1985531	hsa-miR-625	CLIP-seq
MIRT1985532	hsa-miR-637	CLIP-seq
MIRT1985533	hsa-miR-642a	CLIP-seq
MIRT963333	hsa-miR-646	CLIP-seq
MIRT1985534	hsa-miR-656	CLIP-seq
MIRT1985535	hsa-miR-711	CLIP-seq
MIRT963337	hsa-miR-766	CLIP-seq
MIRT1985536	hsa-miR-767-5p	CLIP-seq
MIRT1985537	hsa-miR-891b	CLIP-seq
MIRT963341	hsa-miR-922	CLIP-seq
MIRT963342	hsa-miR-924	CLIP-seq
MIRT963343	hsa-miR-939	CLIP-seq
MIRT963202	hsa-miR-103a	CLIP-seq
MIRT963204	hsa-miR-107	CLIP-seq
MIRT963209	hsa-miR-1256	CLIP-seq
MIRT2220018	hsa-miR-1257	CLIP-seq
MIRT2220019	hsa-miR-1298	CLIP-seq
MIRT963213	hsa-miR-1303	CLIP-seq
MIRT963216	hsa-miR-145	CLIP-seq
MIRT2220020	hsa-miR-147	CLIP-seq
MIRT963220	hsa-miR-1825	CLIP-seq
MIRT963224	hsa-miR-18a	CLIP-seq
MIRT963225	hsa-miR-18b	CLIP-seq
MIRT963226	hsa-miR-191	CLIP-seq
MIRT963228	hsa-miR-198	CLIP-seq
MIRT963229	hsa-miR-199a-5p	CLIP-seq
MIRT963230	hsa-miR-199b-5p	CLIP-seq
MIRT963231	hsa-miR-19a	CLIP-seq
MIRT963232	hsa-miR-19b	CLIP-seq
MIRT2220021	hsa-miR-205	CLIP-seq
MIRT1985512	hsa-miR-2113	CLIP-seq
MIRT2220022	hsa-miR-219-2-3p	CLIP-seq
MIRT1985514	hsa-miR-224	CLIP-seq
MIRT963233	hsa-miR-2278	CLIP-seq
MIRT2220023	hsa-miR-2964a-3p	CLIP-seq
MIRT2220024	hsa-miR-3065-5p	CLIP-seq
MIRT963234	hsa-miR-3120-3p	CLIP-seq
MIRT1985515	hsa-miR-3121-3p	CLIP-seq
MIRT2220025	hsa-miR-3133	CLIP-seq
MIRT2220026	hsa-miR-3177-5p	CLIP-seq
MIRT963243	hsa-miR-330-3p	CLIP-seq
MIRT1985517	hsa-miR-340	CLIP-seq
MIRT963248	hsa-miR-3545-5p	CLIP-seq
MIRT963249	hsa-miR-3607-5p	CLIP-seq
MIRT963250	hsa-miR-3611	CLIP-seq
MIRT963260	hsa-miR-377	CLIP-seq
MIRT963263	hsa-miR-3944-5p	CLIP-seq
MIRT2220027	hsa-miR-3973	CLIP-seq
MIRT2220028	hsa-miR-3977	CLIP-seq
MIRT963265	hsa-miR-421	CLIP-seq
MIRT963273	hsa-miR-4318	CLIP-seq
MIRT963282	hsa-miR-4468	CLIP-seq
MIRT2220029	hsa-miR-4480	CLIP-seq
MIRT963286	hsa-miR-4495	CLIP-seq
MIRT2220030	hsa-miR-4504	CLIP-seq
MIRT2220031	hsa-miR-4633-5p	CLIP-seq
MIRT963290	hsa-miR-4659a-3p	CLIP-seq
MIRT963291	hsa-miR-4659b-3p	CLIP-seq
MIRT963293	hsa-miR-4666-5p	CLIP-seq
MIRT963299	hsa-miR-4691-3p	CLIP-seq
MIRT963300	hsa-miR-4693-5p	CLIP-seq
MIRT963301	hsa-miR-4698	CLIP-seq
MIRT963303	hsa-miR-4704-3p	CLIP-seq
MIRT963304	hsa-miR-4709-5p	CLIP-seq
MIRT963306	hsa-miR-4717-3p	CLIP-seq
MIRT2220032	hsa-miR-4729	CLIP-seq
MIRT963308	hsa-miR-4735-3p	CLIP-seq
MIRT2220033	hsa-miR-513a-3p	CLIP-seq
MIRT2220034	hsa-miR-520g	CLIP-seq
MIRT2220035	hsa-miR-520h	CLIP-seq
MIRT2220036	hsa-miR-545	CLIP-seq
MIRT2220037	hsa-miR-599	CLIP-seq
MIRT1985533	hsa-miR-642a	CLIP-seq
MIRT963340	hsa-miR-892a	CLIP-seq
MIRT963343	hsa-miR-939	CLIP-seq
MIRT963202	hsa-miR-103a	CLIP-seq
MIRT2387403	hsa-miR-105	CLIP-seq
MIRT963204	hsa-miR-107	CLIP-seq
MIRT1985509	hsa-miR-1275	CLIP-seq
MIRT2220020	hsa-miR-147	CLIP-seq
MIRT963224	hsa-miR-18a	CLIP-seq
MIRT963225	hsa-miR-18b	CLIP-seq
MIRT1985512	hsa-miR-2113	CLIP-seq
MIRT963246	hsa-miR-33a	CLIP-seq
MIRT963247	hsa-miR-33b	CLIP-seq
MIRT963263	hsa-miR-3944-5p	CLIP-seq
MIRT2220029	hsa-miR-4480	CLIP-seq
MIRT1985523	hsa-miR-4525	CLIP-seq
MIRT1985525	hsa-miR-4665-5p	CLIP-seq
MIRT1985528	hsa-miR-4723-5p	CLIP-seq
MIRT963308	hsa-miR-4735-3p	CLIP-seq
MIRT963311	hsa-miR-4761-5p	CLIP-seq
MIRT2220037	hsa-miR-599	CLIP-seq
MIRT963331	hsa-miR-624	CLIP-seq
MIRT1985531	hsa-miR-625	CLIP-seq
MIRT1985532	hsa-miR-637	CLIP-seq
MIRT963341	hsa-miR-922	CLIP-seq
MIRT2523800	hsa-miR-4711-5p	CLIP-seq
MIRT2523801	hsa-miR-4789-3p	CLIP-seq
MIRT963317	hsa-miR-4797-5p	CLIP-seq
MIRT2523802	hsa-miR-642b	CLIP-seq
MIRT2680028	hsa-miR-186	CLIP-seq
MIRT2680029	hsa-miR-30a	CLIP-seq
MIRT2680030	hsa-miR-30b	CLIP-seq
MIRT2680031	hsa-miR-30c	CLIP-seq
MIRT2680032	hsa-miR-30d	CLIP-seq
MIRT2680033	hsa-miR-30e	CLIP-seq
MIRT2680034	hsa-miR-3125	CLIP-seq
MIRT2680035	hsa-miR-3145-5p	CLIP-seq
MIRT963260	hsa-miR-377	CLIP-seq
MIRT2680036	hsa-miR-3916	CLIP-seq
MIRT963313	hsa-miR-4773	CLIP-seq
MIRT963328	hsa-miR-548p	CLIP-seq
MIRT2680037	hsa-miR-633	CLIP-seq
MIRT2680038	hsa-miR-877	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	19424503, 26637326
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9566959
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19424503
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007399	Process	Nervous system development	TAS	9566959
GO:0010499	Process	Proteasomal ubiquitin-independent protein catabolic process	IBA
GO:0010499	Process	Proteasomal ubiquitin-independent protein catabolic process	IDA	19424503
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016567	Process	Protein ubiquitination	IDA	15983046
GO:0017148	Process	Negative regulation of translation	IDA	19424503
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	15983046
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0080090	Process	Regulation of primary metabolic process	IEA

Other IDs

• MIM: 605173
• HGNC: 3345
• e!Ensembl: ENSG00000171617

Protein

• UniProt ID: O14682
• Protein name: Ectoderm-neural cortex protein 1 (ENC-1) (Kelch-like protein 37) (Nuclear matrix protein NRP/B) (p53-induced gene 10 protein)
• Protein function: Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin-media
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	36 → 144	BTB/POZ domain	Domain
  PF07707	BACK	149 → 251	BTB And C-terminal Kelch	Domain
  PF01344	Kelch_1	329 → 375	Kelch motif	Repeat
  PF01344	Kelch_1	377 → 431	Kelch motif	Repeat
  PF01344	Kelch_1	481 → 524	Kelch motif	Repeat
  PF01344	Kelch_1	527 → 572	Kelch motif	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal brain tissue, moderate expression in fetal heart, lung and kidney. Highly expressed in adult brain, particularly high in the hippocampus and amygdala, and spinal cord. Detectable in adult pancreas. May be down-regulat
• Sequence:

  MSVSVHENRKSRASSGSINIYLFHKSSYADSVLTHLNLLRQQRLFTDVLLHAGNRTFPCH
  RAVLAACSRYFEAMFSGGLKESQDSEVNFDNSIHPEVLELLLDYAYSSRVIINEENAESL
  LEAGDMLEFQDIRDACAEFLEKNLHPTNCLGMLLLSDAHQCTKLYELSWRMCLSNFQTIR
  KNEDFLQLPQDMVVQLLSSEELETEDERLVYESAINWISYDLKKRYCYLPELLQTVRLAL
  LPAIYLMENVAMEELITKQRKSKEIVEEAIRCKLKILQNDGVVTSLCARPRKTGHALFLL
  GGQTFMCDKLYLVDQKAKEIIPKADIPSPRKEFSACAIGCKVYITGGRGSENGVSKDVWV
  YDTLHEEWSKAAPMLVARFGHGSAELKHCLYVVGGHTAATGCLPASPSVSLKQVEHYDPT
  INKWTMVAPLREGVSNAAVVSAKLKLFAFGGTSVSHDKLPKVQCYDQCENRWTVPATCPQ
  PWRYTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDVTAKRMSCHAVASGNKL
  YVVGGYFGIQRCKTLDCYDPTLDVWNSITTVPYSLIPTAFVSTWKHLPS

• Sequence length: 589

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENC1-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	31772679		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	15757864, 24916845		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	21565795		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	25014222		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34668150	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	18981988		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32618411	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	30850364	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	39988826	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35725010	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25014222	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	31772679		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	25014222		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11691783		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38291092	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28441426		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	35725010	Associate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	15459180		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	24916845		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28441426		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25014222		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25014222		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15459180, 25014222		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17875699		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28441426		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12542479		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32045384	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15459180, 15757864, 24916845, 25014222		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	9683534		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9683534		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30309776	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	24916845	Associate	★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	31678370		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31678370		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35725010	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35015607	Associate	★☆☆☆☆ Found in Text Mining only