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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55127
Gene name	HEAT repeat containing 1
Gene symbol	HEATR1
Synonyms (NCBI Gene)	BAP28UTP10
Chromosome	1
Chromosome location	1q43

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Show/Hide all (329)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031828	hsa-miR-16-5p	Proteomics	18668040
MIRT049239	hsa-miR-92a-3p	CLASH	23622248
MIRT048324	hsa-miR-106a-5p	CLASH	23622248
MIRT039888	hsa-miR-615-3p	CLASH	23622248
MIRT440518	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440518	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1043049	hsa-miR-1184	CLIP-seq
MIRT1043050	hsa-miR-1205	CLIP-seq
MIRT1043051	hsa-miR-1236	CLIP-seq
MIRT1043052	hsa-miR-1270	CLIP-seq
MIRT1043053	hsa-miR-1284	CLIP-seq
MIRT1043054	hsa-miR-1290	CLIP-seq
MIRT1043055	hsa-miR-1294	CLIP-seq
MIRT1043056	hsa-miR-1301	CLIP-seq
MIRT1043057	hsa-miR-130a	CLIP-seq
MIRT1043058	hsa-miR-130b	CLIP-seq
MIRT1043059	hsa-miR-148a	CLIP-seq
MIRT1043060	hsa-miR-148b	CLIP-seq
MIRT1043061	hsa-miR-152	CLIP-seq
MIRT1043062	hsa-miR-1827	CLIP-seq
MIRT1043063	hsa-miR-186	CLIP-seq
MIRT1043064	hsa-miR-19a	CLIP-seq
MIRT1043065	hsa-miR-19b	CLIP-seq
MIRT1043066	hsa-miR-2682	CLIP-seq
MIRT1043067	hsa-miR-299-3p	CLIP-seq
MIRT1043068	hsa-miR-301a	CLIP-seq
MIRT1043069	hsa-miR-301b	CLIP-seq
MIRT1043070	hsa-miR-3065-5p	CLIP-seq
MIRT1043071	hsa-miR-3133	CLIP-seq
MIRT1043072	hsa-miR-3158-5p	CLIP-seq
MIRT1043073	hsa-miR-3160-3p	CLIP-seq
MIRT1043074	hsa-miR-3186-5p	CLIP-seq
MIRT1043075	hsa-miR-3188	CLIP-seq
MIRT1043076	hsa-miR-3197	CLIP-seq
MIRT1043077	hsa-miR-330-3p	CLIP-seq
MIRT1043078	hsa-miR-3659	CLIP-seq
MIRT1043079	hsa-miR-3666	CLIP-seq
MIRT1043080	hsa-miR-3688-5p	CLIP-seq
MIRT1043081	hsa-miR-3929	CLIP-seq
MIRT1043082	hsa-miR-4295	CLIP-seq
MIRT1043083	hsa-miR-4316	CLIP-seq
MIRT1043084	hsa-miR-4419b	CLIP-seq
MIRT1043085	hsa-miR-4436b-5p	CLIP-seq
MIRT1043086	hsa-miR-4450	CLIP-seq
MIRT1043087	hsa-miR-4464	CLIP-seq
MIRT1043088	hsa-miR-4478	CLIP-seq
MIRT1043089	hsa-miR-4487	CLIP-seq
MIRT1043090	hsa-miR-4491	CLIP-seq
MIRT1043091	hsa-miR-449c	CLIP-seq
MIRT1043092	hsa-miR-450b-3p	CLIP-seq
MIRT1043093	hsa-miR-4517	CLIP-seq
MIRT1043094	hsa-miR-4531	CLIP-seq
MIRT1043095	hsa-miR-454	CLIP-seq
MIRT1043096	hsa-miR-4657	CLIP-seq
MIRT1043097	hsa-miR-4658	CLIP-seq
MIRT1043098	hsa-miR-4660	CLIP-seq
MIRT1043099	hsa-miR-4677-3p	CLIP-seq
MIRT1043100	hsa-miR-4699-3p	CLIP-seq
MIRT1043101	hsa-miR-4700-3p	CLIP-seq
MIRT1043102	hsa-miR-4713-3p	CLIP-seq
MIRT1043103	hsa-miR-4720-3p	CLIP-seq
MIRT1043104	hsa-miR-4722-5p	CLIP-seq
MIRT1043105	hsa-miR-4729	CLIP-seq
MIRT1043106	hsa-miR-4748	CLIP-seq
MIRT1043107	hsa-miR-4768-3p	CLIP-seq
MIRT1043108	hsa-miR-4804-3p	CLIP-seq
MIRT1043109	hsa-miR-491-5p	CLIP-seq
MIRT1043110	hsa-miR-5047	CLIP-seq
MIRT1043111	hsa-miR-5095	CLIP-seq
MIRT1043112	hsa-miR-513a-3p	CLIP-seq
MIRT1043113	hsa-miR-520f	CLIP-seq
MIRT1043114	hsa-miR-544	CLIP-seq
MIRT1043115	hsa-miR-548c-3p	CLIP-seq
MIRT1043116	hsa-miR-552	CLIP-seq
MIRT1043117	hsa-miR-558	CLIP-seq
MIRT1043118	hsa-miR-574-5p	CLIP-seq
MIRT1043119	hsa-miR-582-5p	CLIP-seq
MIRT1043120	hsa-miR-600	CLIP-seq
MIRT1043121	hsa-miR-607	CLIP-seq
MIRT1043122	hsa-miR-620	CLIP-seq
MIRT1043123	hsa-miR-638	CLIP-seq
MIRT1043124	hsa-miR-651	CLIP-seq
MIRT1043125	hsa-miR-769-3p	CLIP-seq
MIRT1043126	hsa-miR-885-3p	CLIP-seq
MIRT1043127	hsa-miR-940	CLIP-seq
MIRT1043049	hsa-miR-1184	CLIP-seq
MIRT1043050	hsa-miR-1205	CLIP-seq
MIRT2009172	hsa-miR-124	CLIP-seq
MIRT2009173	hsa-miR-1264	CLIP-seq
MIRT1043053	hsa-miR-1284	CLIP-seq
MIRT1043056	hsa-miR-1301	CLIP-seq
MIRT1043063	hsa-miR-186	CLIP-seq
MIRT2009174	hsa-miR-2052	CLIP-seq
MIRT2009175	hsa-miR-3123	CLIP-seq
MIRT1043072	hsa-miR-3158-5p	CLIP-seq
MIRT2009176	hsa-miR-3163	CLIP-seq
MIRT2009177	hsa-miR-3691-3p	CLIP-seq
MIRT2009178	hsa-miR-3714	CLIP-seq
MIRT2009179	hsa-miR-375	CLIP-seq
MIRT2009180	hsa-miR-3910	CLIP-seq
MIRT2009181	hsa-miR-4274	CLIP-seq
MIRT2009182	hsa-miR-4477a	CLIP-seq
MIRT1043098	hsa-miR-4660	CLIP-seq
MIRT1043100	hsa-miR-4699-3p	CLIP-seq
MIRT2009183	hsa-miR-4705	CLIP-seq
MIRT1043105	hsa-miR-4729	CLIP-seq
MIRT2009184	hsa-miR-4742-3p	CLIP-seq
MIRT2009185	hsa-miR-4795-3p	CLIP-seq
MIRT1043110	hsa-miR-5047	CLIP-seq
MIRT2009186	hsa-miR-506	CLIP-seq
MIRT1043114	hsa-miR-544	CLIP-seq
MIRT2009187	hsa-miR-548a-5p	CLIP-seq
MIRT2009188	hsa-miR-548ab	CLIP-seq
MIRT2009189	hsa-miR-548ak	CLIP-seq
MIRT2009190	hsa-miR-548b-5p	CLIP-seq
MIRT1043115	hsa-miR-548c-3p	CLIP-seq
MIRT2009191	hsa-miR-548c-5p	CLIP-seq
MIRT2009192	hsa-miR-548d-5p	CLIP-seq
MIRT2009193	hsa-miR-548h	CLIP-seq
MIRT2009194	hsa-miR-548i	CLIP-seq
MIRT2009195	hsa-miR-548j	CLIP-seq
MIRT2009196	hsa-miR-548n	CLIP-seq
MIRT2009197	hsa-miR-548w	CLIP-seq
MIRT2009198	hsa-miR-548y	CLIP-seq
MIRT2009199	hsa-miR-556-3p	CLIP-seq
MIRT2009200	hsa-miR-559	CLIP-seq
MIRT2009201	hsa-miR-568	CLIP-seq
MIRT2009202	hsa-miR-579	CLIP-seq
MIRT2009203	hsa-miR-622	CLIP-seq
MIRT2009204	hsa-miR-656	CLIP-seq
MIRT2009205	hsa-miR-873	CLIP-seq
MIRT2241586	hsa-miR-1227	CLIP-seq
MIRT2241587	hsa-miR-1267	CLIP-seq
MIRT2241588	hsa-miR-1275	CLIP-seq
MIRT1043054	hsa-miR-1290	CLIP-seq
MIRT1043057	hsa-miR-130a	CLIP-seq
MIRT1043058	hsa-miR-130b	CLIP-seq
MIRT1043059	hsa-miR-148a	CLIP-seq
MIRT1043060	hsa-miR-148b	CLIP-seq
MIRT1043061	hsa-miR-152	CLIP-seq
MIRT1043063	hsa-miR-186	CLIP-seq
MIRT1043064	hsa-miR-19a	CLIP-seq
MIRT1043065	hsa-miR-19b	CLIP-seq
MIRT1043068	hsa-miR-301a	CLIP-seq
MIRT1043069	hsa-miR-301b	CLIP-seq
MIRT2241589	hsa-miR-3064-3p	CLIP-seq
MIRT1043071	hsa-miR-3133	CLIP-seq
MIRT1043073	hsa-miR-3160-3p	CLIP-seq
MIRT2241590	hsa-miR-3182	CLIP-seq
MIRT1043074	hsa-miR-3186-5p	CLIP-seq
MIRT1043076	hsa-miR-3197	CLIP-seq
MIRT2241591	hsa-miR-361-5p	CLIP-seq
MIRT1043079	hsa-miR-3666	CLIP-seq
MIRT2241592	hsa-miR-3682-5p	CLIP-seq
MIRT1043080	hsa-miR-3688-5p	CLIP-seq
MIRT2009177	hsa-miR-3691-3p	CLIP-seq
MIRT1043082	hsa-miR-4295	CLIP-seq
MIRT1043086	hsa-miR-4450	CLIP-seq
MIRT1043089	hsa-miR-4487	CLIP-seq
MIRT1043095	hsa-miR-454	CLIP-seq
MIRT2241593	hsa-miR-4639-5p	CLIP-seq
MIRT2241594	hsa-miR-4651	CLIP-seq
MIRT2241595	hsa-miR-4652-3p	CLIP-seq
MIRT2241596	hsa-miR-4665-5p	CLIP-seq
MIRT2241597	hsa-miR-4704-3p	CLIP-seq
MIRT1043109	hsa-miR-491-5p	CLIP-seq
MIRT2241598	hsa-miR-548k	CLIP-seq
MIRT2009196	hsa-miR-548n	CLIP-seq
MIRT1043117	hsa-miR-558	CLIP-seq
MIRT1043119	hsa-miR-582-5p	CLIP-seq
MIRT1043120	hsa-miR-600	CLIP-seq
MIRT2241599	hsa-miR-608	CLIP-seq
MIRT1043126	hsa-miR-885-3p	CLIP-seq
MIRT2009177	hsa-miR-3691-3p	CLIP-seq
MIRT2451055	hsa-miR-1179	CLIP-seq
MIRT2451056	hsa-miR-1244	CLIP-seq
MIRT2451057	hsa-miR-1296	CLIP-seq
MIRT2451058	hsa-miR-1343	CLIP-seq
MIRT2451059	hsa-miR-2116	CLIP-seq
MIRT2451060	hsa-miR-28-3p	CLIP-seq
MIRT2451061	hsa-miR-2909	CLIP-seq
MIRT1043067	hsa-miR-299-3p	CLIP-seq
MIRT2241589	hsa-miR-3064-3p	CLIP-seq
MIRT1043070	hsa-miR-3065-5p	CLIP-seq
MIRT2451062	hsa-miR-3115	CLIP-seq
MIRT2451063	hsa-miR-3119	CLIP-seq
MIRT2451064	hsa-miR-3130-5p	CLIP-seq
MIRT2451065	hsa-miR-3168	CLIP-seq
MIRT2451066	hsa-miR-3180-5p	CLIP-seq
MIRT1043080	hsa-miR-3688-5p	CLIP-seq
MIRT2451067	hsa-miR-4422	CLIP-seq
MIRT2451068	hsa-miR-4436b-3p	CLIP-seq
MIRT2451069	hsa-miR-4482	CLIP-seq
MIRT1043090	hsa-miR-4491	CLIP-seq
MIRT1043096	hsa-miR-4657	CLIP-seq
MIRT2451070	hsa-miR-4712-5p	CLIP-seq
MIRT2451071	hsa-miR-4753-3p	CLIP-seq
MIRT2451072	hsa-miR-4761-3p	CLIP-seq
MIRT2451073	hsa-miR-483-3p	CLIP-seq
MIRT1043109	hsa-miR-491-5p	CLIP-seq
MIRT2451074	hsa-miR-520a-5p	CLIP-seq
MIRT2451075	hsa-miR-525-5p	CLIP-seq
MIRT2451076	hsa-miR-543	CLIP-seq
MIRT1043114	hsa-miR-544	CLIP-seq
MIRT2009204	hsa-miR-656	CLIP-seq
MIRT2451077	hsa-miR-770-5p	CLIP-seq
MIRT1043126	hsa-miR-885-3p	CLIP-seq
MIRT2451078	hsa-miR-942	CLIP-seq
MIRT2451055	hsa-miR-1179	CLIP-seq
MIRT2451056	hsa-miR-1244	CLIP-seq
MIRT2451057	hsa-miR-1296	CLIP-seq
MIRT2451058	hsa-miR-1343	CLIP-seq
MIRT2451059	hsa-miR-2116	CLIP-seq
MIRT2451060	hsa-miR-28-3p	CLIP-seq
MIRT2451061	hsa-miR-2909	CLIP-seq
MIRT1043067	hsa-miR-299-3p	CLIP-seq
MIRT2451064	hsa-miR-3130-5p	CLIP-seq
MIRT2451065	hsa-miR-3168	CLIP-seq
MIRT2451066	hsa-miR-3180-5p	CLIP-seq
MIRT1043080	hsa-miR-3688-5p	CLIP-seq
MIRT2451067	hsa-miR-4422	CLIP-seq
MIRT2451068	hsa-miR-4436b-3p	CLIP-seq
MIRT2451069	hsa-miR-4482	CLIP-seq
MIRT1043090	hsa-miR-4491	CLIP-seq
MIRT1043096	hsa-miR-4657	CLIP-seq
MIRT2451070	hsa-miR-4712-5p	CLIP-seq
MIRT2451072	hsa-miR-4761-3p	CLIP-seq
MIRT2451073	hsa-miR-483-3p	CLIP-seq
MIRT1043109	hsa-miR-491-5p	CLIP-seq
MIRT2451074	hsa-miR-520a-5p	CLIP-seq
MIRT2451075	hsa-miR-525-5p	CLIP-seq
MIRT2451077	hsa-miR-770-5p	CLIP-seq
MIRT1043126	hsa-miR-885-3p	CLIP-seq
MIRT2451055	hsa-miR-1179	CLIP-seq
MIRT2241586	hsa-miR-1227	CLIP-seq
MIRT2545227	hsa-miR-1238	CLIP-seq
MIRT2451056	hsa-miR-1244	CLIP-seq
MIRT2545228	hsa-miR-1273e	CLIP-seq
MIRT1043053	hsa-miR-1284	CLIP-seq
MIRT2545229	hsa-miR-1285	CLIP-seq
MIRT2545230	hsa-miR-1298	CLIP-seq
MIRT2451058	hsa-miR-1343	CLIP-seq
MIRT2545231	hsa-miR-199a-5p	CLIP-seq
MIRT2545232	hsa-miR-199b-5p	CLIP-seq
MIRT2451059	hsa-miR-2116	CLIP-seq
MIRT2545233	hsa-miR-28-5p	CLIP-seq
MIRT2545234	hsa-miR-296-5p	CLIP-seq
MIRT2241589	hsa-miR-3064-3p	CLIP-seq
MIRT1043070	hsa-miR-3065-5p	CLIP-seq
MIRT2451062	hsa-miR-3115	CLIP-seq
MIRT2451063	hsa-miR-3119	CLIP-seq
MIRT2545235	hsa-miR-3120-5p	CLIP-seq
MIRT2451064	hsa-miR-3130-5p	CLIP-seq
MIRT2545236	hsa-miR-3139	CLIP-seq
MIRT1043073	hsa-miR-3160-3p	CLIP-seq
MIRT2451065	hsa-miR-3168	CLIP-seq
MIRT2451066	hsa-miR-3180-5p	CLIP-seq
MIRT2545237	hsa-miR-3187-5p	CLIP-seq
MIRT2545238	hsa-miR-3662	CLIP-seq
MIRT2545239	hsa-miR-3690	CLIP-seq
MIRT2545240	hsa-miR-378g	CLIP-seq
MIRT2545241	hsa-miR-3934	CLIP-seq
MIRT2545242	hsa-miR-4254	CLIP-seq
MIRT2545243	hsa-miR-4314	CLIP-seq
MIRT2545244	hsa-miR-4325	CLIP-seq
MIRT2545245	hsa-miR-4327	CLIP-seq
MIRT2451067	hsa-miR-4422	CLIP-seq
MIRT2545246	hsa-miR-4427	CLIP-seq
MIRT2545247	hsa-miR-4468	CLIP-seq
MIRT2451069	hsa-miR-4482	CLIP-seq
MIRT2545248	hsa-miR-4486	CLIP-seq
MIRT1043089	hsa-miR-4487	CLIP-seq
MIRT2545249	hsa-miR-451b	CLIP-seq
MIRT2545250	hsa-miR-4661-5p	CLIP-seq
MIRT2545251	hsa-miR-4677-5p	CLIP-seq
MIRT2545252	hsa-miR-4680-3p	CLIP-seq
MIRT2545253	hsa-miR-4681	CLIP-seq
MIRT2545254	hsa-miR-4715-3p	CLIP-seq
MIRT2545255	hsa-miR-4715-5p	CLIP-seq
MIRT2451071	hsa-miR-4753-3p	CLIP-seq
MIRT2451073	hsa-miR-483-3p	CLIP-seq
MIRT2545256	hsa-miR-501-3p	CLIP-seq
MIRT2545257	hsa-miR-502-3p	CLIP-seq
MIRT2545258	hsa-miR-516a-3p	CLIP-seq
MIRT2451074	hsa-miR-520a-5p	CLIP-seq
MIRT2451075	hsa-miR-525-5p	CLIP-seq
MIRT2545259	hsa-miR-532-5p	CLIP-seq
MIRT2451076	hsa-miR-543	CLIP-seq
MIRT1043114	hsa-miR-544	CLIP-seq
MIRT1043117	hsa-miR-558	CLIP-seq
MIRT2545260	hsa-miR-593	CLIP-seq
MIRT2545261	hsa-miR-612	CLIP-seq
MIRT2009204	hsa-miR-656	CLIP-seq
MIRT2545262	hsa-miR-708	CLIP-seq
MIRT2545263	hsa-miR-765	CLIP-seq
MIRT2451078	hsa-miR-942	CLIP-seq
MIRT2451055	hsa-miR-1179	CLIP-seq
MIRT2451056	hsa-miR-1244	CLIP-seq
MIRT2545228	hsa-miR-1273e	CLIP-seq
MIRT1043053	hsa-miR-1284	CLIP-seq
MIRT2545230	hsa-miR-1298	CLIP-seq
MIRT2451058	hsa-miR-1343	CLIP-seq
MIRT2451059	hsa-miR-2116	CLIP-seq
MIRT2241589	hsa-miR-3064-3p	CLIP-seq
MIRT2451063	hsa-miR-3119	CLIP-seq
MIRT2545235	hsa-miR-3120-5p	CLIP-seq
MIRT2451065	hsa-miR-3168	CLIP-seq
MIRT2451066	hsa-miR-3180-5p	CLIP-seq
MIRT2545238	hsa-miR-3662	CLIP-seq
MIRT2545239	hsa-miR-3690	CLIP-seq
MIRT2545242	hsa-miR-4254	CLIP-seq
MIRT2545244	hsa-miR-4325	CLIP-seq
MIRT2545245	hsa-miR-4327	CLIP-seq
MIRT2451067	hsa-miR-4422	CLIP-seq
MIRT2545246	hsa-miR-4427	CLIP-seq
MIRT2545249	hsa-miR-451b	CLIP-seq
MIRT2545250	hsa-miR-4661-5p	CLIP-seq
MIRT2545252	hsa-miR-4680-3p	CLIP-seq
MIRT2545254	hsa-miR-4715-3p	CLIP-seq
MIRT2545255	hsa-miR-4715-5p	CLIP-seq
MIRT2451073	hsa-miR-483-3p	CLIP-seq
MIRT2545256	hsa-miR-501-3p	CLIP-seq
MIRT2545257	hsa-miR-502-3p	CLIP-seq
MIRT2451074	hsa-miR-520a-5p	CLIP-seq
MIRT2451075	hsa-miR-525-5p	CLIP-seq
MIRT1043114	hsa-miR-544	CLIP-seq
MIRT2545260	hsa-miR-593	CLIP-seq
MIRT2009204	hsa-miR-656	CLIP-seq
MIRT2545263	hsa-miR-765	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000462	Process	Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA
GO:0001650	Component	Fibrillar center	IDA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	22190034, 38225354
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	17699751, 38225354
GO:0005730	Component	Nucleolus	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0006364	Process	RRNA processing	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016072	Process	RRNA metabolic process	IMP	38225354
GO:0030515	Function	SnoRNA binding	IBA
GO:0030686	Component	90S preribosome	IBA
GO:0032040	Component	Small-subunit processome	IBA
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0034455	Component	T-UTP complex	IBA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	IBA
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	IMP	17699751
GO:0061351	Process	Neural precursor cell proliferation	IMP	38225354
GO:1902570	Process	Protein localization to nucleolus	IDA	38225354
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000234	Process	Positive regulation of rRNA processing	IMP	17699751

MIM	HGNC	e!Ensembl
620390	25517	ENSG00000119285

Q9H583

Protein name

HEAT repeat-containing protein 1 (Protein BAP28) (U3 small nucleolar RNA-associated protein 10 homolog) [Cleaved into: HEAT repeat-containing protein 1, N-terminally processed]

Protein function

Ribosome biogenesis factor; required for recruitment of Myc to nucleoli (PubMed:38225354). Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I (PubMed:17699751). Par

PDB

7MQ8 , 7MQ9 , 7MQA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12397	U3snoRNP10	238 → 354	U3 small nucleolar RNA-associated protein 10	Family
PF08146	BP28CT	1859 → 2010	BP28CT (NUC211) domain	Domain

Sequence

MTSLAQQLQRLALPQSDASLLSRDEVASLLFDPKEAATIDRDTAFAIGCTGLEELLGIDP
SFEQFEAPLFSQLAKTLERSVQTKAVNKQLDENISLFLIHLSPYFLLKPAQKCLEWLIHR
FHIHLYNQDSLIACVLPYHETRIFVRVIQLLKINNSKHRWFWLLPVKQSGVPLAKGTLIT
HCYKDLGFMDFICSLVTKSVKVFAEYPGSSAQLRVLLAFYASTIVSALVAAEDVSDNIIA
KLFPYIQKGLKSSLPDYRAATYMIICQISVKVTMENTFVNSLASQIIKTLTKIPSLIKDG
LSCLIVLLQRQKPESLGKKPFPHLCNVPDLITILHGISETYDVSPLLHYMLPHLVVSIIH
HVTGEETEGMDGQIYKRHLEAILTKISLKNNLDHLLASLLFEEYISYSSQEEMDSNKVSL
LNEQFLPLIRLLESKYPRTLDVVLEEHLKEIADLKKQELFHQFVSLSTSGGKYQFLADSD
TSLMLSLNHPLAPVRILAMNHLKKIMKTSKEGVDESFIKEAVLARLGDDNIDVVLSAISA
FEIFKEHFSSEVTISNLLNLFQRAELSKNGEWYEVLKIAADILIKEEILSENDQLSNQVV
VCLLPFMVINNDDTESAEMKIAIYLSKSGICSLHPLLRGWEEALENVIKSTKPGKLIGVA
NQKMIELLADNINLGDPSSMLKMVEDLISVGEEESFNLKQKVTFHVILSVLVSCCSSLKE
THFPFAIRVFSLLQKKIKKLESVITAVEIPSEWHIELMLDRGIPVELWAHYVEELNSTQR
VAVEDSVFLVFSLKKFIYALKAPKSFPKGDIWWNPEQLKEDSRDYLHLLIGLFEMMLNGA
DAVHFRVLMKLFIKVHLEDVFQLFKFCSVLWTYGSSLSNPLNCSVKTVLQTQALYVGCAM
LSSQKTQCKHQLASISSPVVTSLLINLGSPVKEVRRAAIQCLQALSGVASPFYLIIDHLI
SKAEEITSDAAYVIQDLATLFEELQREKKLKSHQKLSETLKNLLSCVYSCPSYIAKDLMK
VLQGVNGEMVLSQLLPMAEQLLEKIQKEPTAVLKDEAMVLHLTLGKYNEFSVSLLNEDPK
SLDIFIKAVHTTKELYAGMPTIQITALEKITKPFFAAISDEKVQQKLLRMLFDLLVNCKN
SHCAQTVSSVFKGISVNAEQVRIELEPPDKAKPLGTVQQKRRQKMQQKKSQDLESVQEVG
GSYWQRVTLILELLQHKKKLRSPQILVPTLFNLLSRCLEPLPQEQGNMEYTKQLILSCLL
NICQKLSPDGGKIPKDILDEEKFNVELIVQCIRLSEMPQTHHHALLLLGTVAGIFPDKVL
HNIMSIFTFMGANVMRLDDTYSFQVINKTVKMVIPALIQSDSGDSIEVSRNVEEIVVKII
SVFVDALPHVPEHRRLPILVQLVDTLGAEKFLWILLILLFEQYVTKTVLAAAYGEKDAIL
EADTEFWFSVCCEFSVQHQIQSLMNILQYLLKLPEEKEETIPKAVSFNKSESQEEMLQVF
NVETHTSKQLRHFKFLSVSFMSQLLSSNNFLKKVVESGGPEILKGLEERLLETVLGYISA
VAQSMERNADKLTVKFWRALLSKAYDLLDKVNALLPTETFIPVIRGLVGNPLPSVRRKAL
DLLNNKLQQNISWKKTIVTRFLKLVPDLLAIVQRKKKEGEEEQAINRQTALYTLKLLCKN
FGAENPDPFVPVLNTAVKLIAPERKEEKNVLGSALLCIAEVTSTLEALAIPQLPSLMPSL
LTTMKNTSELVSSEVYLLSALAALQKVVETLPHFISPYLEGILSQVIHLEKITSEMGSAS
QANIRLTSLKKTLATTLAPRVLLPAIKKTYKQIEKNWKNHMGPFMSILQEHIGVMKKEEL
TSHQSQLTAFFLEALDFRAQHSENDLEEVGKTENCIIDCLVAMVVKLSEVTFRPLFFKLF
DWAKTEDAPKDRLLTFYNLADCIAEKLKGLFTLFAGHLVKPFADTLNQVNISKTDEAFFD
SENDPEKCCLLLQFILNCLYKIFLFDTQHFISKERAEALMMPLVDQLENRLGGEEKFQER
VTKHLIPCIAQFSVAMADDSLWKPLNYQILLKTRDSSPKVRFAALITVLALAEKLKENYI
VLLPESIPFLAELMEDECEEVEHQCQKTIQQLETVLGEPLQSYF

Sequence length

2144

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes		Major pathway of rRNA processing in the nucleolus and cytosol

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 (15)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26676747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	32116234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34365093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25126583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25126583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25126583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25126583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25126583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26676747, 31785531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29143558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26676747, 31190896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31190896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26676747, 31785531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31785531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	39438952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HEATR1 (HEAT repeat containing 1)