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POLR1A (RNA polymerase I subunit A)

Gene

RNA polymerase I subunit A

POLR1A

A190, AFDCIN, HLD27, RPA1, RPA190, RPA194, RPO1-4, RPO14

2

2p11.2

The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cinc

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs370722814	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs794729674	C>G	Pathogenic	Coding sequence variant, missense variant
rs875989814	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794956	CCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064795108	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1377622831	G>A	Pathogenic	Stop gained, coding sequence variant

Show/Hide all(282)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032207	hsa-let-7b-5p	Proteomics	18668040
MIRT040172	hsa-miR-615-3p	CLASH	23622248
MIRT650105	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT650104	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT650103	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT650102	hsa-miR-8063	HITS-CLIP	23824327
MIRT650101	hsa-miR-4698	HITS-CLIP	23824327
MIRT650100	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT650099	hsa-miR-5581-3p	HITS-CLIP	23824327
MIRT650098	hsa-miR-587	HITS-CLIP	23824327
MIRT439934	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439934	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT650105	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT650104	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT650103	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT650102	hsa-miR-8063	HITS-CLIP	23824327
MIRT650101	hsa-miR-4698	HITS-CLIP	23824327
MIRT650100	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT650099	hsa-miR-5581-3p	HITS-CLIP	23824327
MIRT650098	hsa-miR-587	HITS-CLIP	23824327
MIRT1248173	hsa-miR-103a	CLIP-seq
MIRT1248174	hsa-miR-107	CLIP-seq
MIRT1248175	hsa-miR-1184	CLIP-seq
MIRT1248176	hsa-miR-1225-3p	CLIP-seq
MIRT1248177	hsa-miR-1245b-5p	CLIP-seq
MIRT1248178	hsa-miR-1254	CLIP-seq
MIRT1248179	hsa-miR-1255a	CLIP-seq
MIRT1248180	hsa-miR-1255b	CLIP-seq
MIRT1248181	hsa-miR-125a-3p	CLIP-seq
MIRT1248182	hsa-miR-1262	CLIP-seq
MIRT1248183	hsa-miR-1293	CLIP-seq
MIRT1248184	hsa-miR-1321	CLIP-seq
MIRT1248185	hsa-miR-1913	CLIP-seq
MIRT1248186	hsa-miR-1915	CLIP-seq
MIRT1248187	hsa-miR-1976	CLIP-seq
MIRT1248188	hsa-miR-214	CLIP-seq
MIRT1248189	hsa-miR-3064-3p	CLIP-seq
MIRT1248190	hsa-miR-3074-5p	CLIP-seq
MIRT1248191	hsa-miR-3116	CLIP-seq
MIRT1248192	hsa-miR-3135b	CLIP-seq
MIRT1248193	hsa-miR-3138	CLIP-seq
MIRT1248194	hsa-miR-3142	CLIP-seq
MIRT1248195	hsa-miR-3144-5p	CLIP-seq
MIRT1248196	hsa-miR-3146	CLIP-seq
MIRT1248197	hsa-miR-3155	CLIP-seq
MIRT1248198	hsa-miR-3155b	CLIP-seq
MIRT1248199	hsa-miR-3161	CLIP-seq
MIRT1248200	hsa-miR-3184	CLIP-seq
MIRT1248201	hsa-miR-3189-3p	CLIP-seq
MIRT1248202	hsa-miR-3191	CLIP-seq
MIRT1248203	hsa-miR-324-3p	CLIP-seq
MIRT1248204	hsa-miR-361-3p	CLIP-seq
MIRT1248205	hsa-miR-3619-5p	CLIP-seq
MIRT1248206	hsa-miR-3652	CLIP-seq
MIRT1248207	hsa-miR-3664-5p	CLIP-seq
MIRT1248208	hsa-miR-3689d	CLIP-seq
MIRT1248209	hsa-miR-370	CLIP-seq
MIRT1248210	hsa-miR-3943	CLIP-seq
MIRT1248211	hsa-miR-423-5p	CLIP-seq
MIRT1248212	hsa-miR-4270	CLIP-seq
MIRT1248213	hsa-miR-4313	CLIP-seq
MIRT1248214	hsa-miR-4316	CLIP-seq
MIRT1248215	hsa-miR-4430	CLIP-seq
MIRT1248216	hsa-miR-4441	CLIP-seq
MIRT1248217	hsa-miR-4483	CLIP-seq
MIRT1248218	hsa-miR-4492	CLIP-seq
MIRT1248219	hsa-miR-4498	CLIP-seq
MIRT1248220	hsa-miR-4522	CLIP-seq
MIRT1248221	hsa-miR-4533	CLIP-seq
MIRT1248222	hsa-miR-4650-5p	CLIP-seq
MIRT1248223	hsa-miR-4652-5p	CLIP-seq
MIRT1248224	hsa-miR-4688	CLIP-seq
MIRT1248225	hsa-miR-4690-5p	CLIP-seq
MIRT1248226	hsa-miR-4701-3p	CLIP-seq
MIRT1248227	hsa-miR-4710	CLIP-seq
MIRT1248228	hsa-miR-4714-5p	CLIP-seq
MIRT1248229	hsa-miR-4728-5p	CLIP-seq
MIRT1248230	hsa-miR-4739	CLIP-seq
MIRT1248231	hsa-miR-4752	CLIP-seq
MIRT1248232	hsa-miR-4756-5p	CLIP-seq
MIRT1248233	hsa-miR-4759	CLIP-seq
MIRT1248234	hsa-miR-4800-5p	CLIP-seq
MIRT1248235	hsa-miR-484	CLIP-seq
MIRT1248236	hsa-miR-516b	CLIP-seq
MIRT1248237	hsa-miR-520a-5p	CLIP-seq
MIRT1248238	hsa-miR-525-5p	CLIP-seq
MIRT1248239	hsa-miR-548c-3p	CLIP-seq
MIRT1248240	hsa-miR-550a	CLIP-seq
MIRT1248241	hsa-miR-552	CLIP-seq
MIRT1248242	hsa-miR-615-5p	CLIP-seq
MIRT1248243	hsa-miR-635	CLIP-seq
MIRT1248244	hsa-miR-661	CLIP-seq
MIRT1248245	hsa-miR-761	CLIP-seq
MIRT1248246	hsa-miR-762	CLIP-seq
MIRT1248247	hsa-miR-765	CLIP-seq
MIRT1248248	hsa-miR-767-3p	CLIP-seq
MIRT2073242	hsa-miR-1197	CLIP-seq
MIRT1248181	hsa-miR-125a-3p	CLIP-seq
MIRT2073243	hsa-miR-1264	CLIP-seq
MIRT2073244	hsa-miR-1266	CLIP-seq
MIRT2073245	hsa-miR-128	CLIP-seq
MIRT2073246	hsa-miR-1285	CLIP-seq
MIRT2073247	hsa-miR-135a	CLIP-seq
MIRT2073248	hsa-miR-135b	CLIP-seq
MIRT2073249	hsa-miR-145	CLIP-seq
MIRT2073250	hsa-miR-146b-3p	CLIP-seq
MIRT2073251	hsa-miR-1587	CLIP-seq
MIRT2073252	hsa-miR-1910	CLIP-seq
MIRT1248187	hsa-miR-1976	CLIP-seq
MIRT2073253	hsa-miR-3127-3p	CLIP-seq
MIRT1248192	hsa-miR-3135b	CLIP-seq
MIRT2073254	hsa-miR-3141	CLIP-seq
MIRT2073255	hsa-miR-3154	CLIP-seq
MIRT2073256	hsa-miR-3173-5p	CLIP-seq
MIRT2073257	hsa-miR-3183	CLIP-seq
MIRT2073258	hsa-miR-3185	CLIP-seq
MIRT2073259	hsa-miR-3187-5p	CLIP-seq
MIRT1248201	hsa-miR-3189-3p	CLIP-seq
MIRT2073260	hsa-miR-326	CLIP-seq
MIRT2073261	hsa-miR-330-5p	CLIP-seq
MIRT2073262	hsa-miR-3612	CLIP-seq
MIRT2073263	hsa-miR-3614-5p	CLIP-seq
MIRT1248206	hsa-miR-3652	CLIP-seq
MIRT2073264	hsa-miR-3667-3p	CLIP-seq
MIRT2073265	hsa-miR-378g	CLIP-seq
MIRT2073266	hsa-miR-3909	CLIP-seq
MIRT2073267	hsa-miR-4260	CLIP-seq
MIRT2073268	hsa-miR-4264	CLIP-seq
MIRT1248212	hsa-miR-4270	CLIP-seq
MIRT2073269	hsa-miR-4276	CLIP-seq
MIRT2073270	hsa-miR-4283	CLIP-seq
MIRT2073271	hsa-miR-4308	CLIP-seq
MIRT2073272	hsa-miR-4320	CLIP-seq
MIRT2073273	hsa-miR-4326	CLIP-seq
MIRT1248215	hsa-miR-4430	CLIP-seq
MIRT1248216	hsa-miR-4441	CLIP-seq
MIRT2073274	hsa-miR-4443	CLIP-seq
MIRT2073275	hsa-miR-4486	CLIP-seq
MIRT2073276	hsa-miR-4489	CLIP-seq
MIRT1248218	hsa-miR-4492	CLIP-seq
MIRT1248219	hsa-miR-4498	CLIP-seq
MIRT2073277	hsa-miR-4518	CLIP-seq
MIRT2073278	hsa-miR-4656	CLIP-seq
MIRT2073279	hsa-miR-4675	CLIP-seq
MIRT1248227	hsa-miR-4710	CLIP-seq
MIRT2073280	hsa-miR-4723-3p	CLIP-seq
MIRT2073281	hsa-miR-4741	CLIP-seq
MIRT2073282	hsa-miR-4797-3p	CLIP-seq
MIRT2073283	hsa-miR-510	CLIP-seq
MIRT2073284	hsa-miR-601	CLIP-seq
MIRT2073285	hsa-miR-612	CLIP-seq
MIRT2073286	hsa-miR-650	CLIP-seq
MIRT2073287	hsa-miR-668	CLIP-seq
MIRT1248246	hsa-miR-762	CLIP-seq
MIRT2073288	hsa-miR-874	CLIP-seq
MIRT2073289	hsa-miR-890	CLIP-seq
MIRT2073290	hsa-miR-942	CLIP-seq
MIRT1248173	hsa-miR-103a	CLIP-seq
MIRT1248174	hsa-miR-107	CLIP-seq
MIRT1248175	hsa-miR-1184	CLIP-seq
MIRT1248179	hsa-miR-1255a	CLIP-seq
MIRT1248180	hsa-miR-1255b	CLIP-seq
MIRT1248181	hsa-miR-125a-3p	CLIP-seq
MIRT1248184	hsa-miR-1321	CLIP-seq
MIRT2073249	hsa-miR-145	CLIP-seq
MIRT2073250	hsa-miR-146b-3p	CLIP-seq
MIRT2073252	hsa-miR-1910	CLIP-seq
MIRT1248187	hsa-miR-1976	CLIP-seq
MIRT2300380	hsa-miR-2277-3p	CLIP-seq
MIRT1248192	hsa-miR-3135b	CLIP-seq
MIRT2073256	hsa-miR-3173-5p	CLIP-seq
MIRT2073257	hsa-miR-3183	CLIP-seq
MIRT1248200	hsa-miR-3184	CLIP-seq
MIRT1248201	hsa-miR-3189-3p	CLIP-seq
MIRT2073262	hsa-miR-3612	CLIP-seq
MIRT2073263	hsa-miR-3614-5p	CLIP-seq
MIRT1248206	hsa-miR-3652	CLIP-seq
MIRT2073266	hsa-miR-3909	CLIP-seq
MIRT2300381	hsa-miR-3919	CLIP-seq
MIRT1248211	hsa-miR-423-5p	CLIP-seq
MIRT2073267	hsa-miR-4260	CLIP-seq
MIRT1248212	hsa-miR-4270	CLIP-seq
MIRT2073270	hsa-miR-4283	CLIP-seq
MIRT2073271	hsa-miR-4308	CLIP-seq
MIRT2073272	hsa-miR-4320	CLIP-seq
MIRT1248215	hsa-miR-4430	CLIP-seq
MIRT1248216	hsa-miR-4441	CLIP-seq
MIRT2073274	hsa-miR-4443	CLIP-seq
MIRT2073276	hsa-miR-4489	CLIP-seq
MIRT1248218	hsa-miR-4492	CLIP-seq
MIRT1248219	hsa-miR-4498	CLIP-seq
MIRT2300382	hsa-miR-4645-5p	CLIP-seq
MIRT2073278	hsa-miR-4656	CLIP-seq
MIRT2300383	hsa-miR-4673	CLIP-seq
MIRT1248224	hsa-miR-4688	CLIP-seq
MIRT2073280	hsa-miR-4723-3p	CLIP-seq
MIRT1248229	hsa-miR-4728-5p	CLIP-seq
MIRT1248230	hsa-miR-4739	CLIP-seq
MIRT2300384	hsa-miR-4742-5p	CLIP-seq
MIRT2300385	hsa-miR-4755-3p	CLIP-seq
MIRT1248232	hsa-miR-4756-5p	CLIP-seq
MIRT1248237	hsa-miR-520a-5p	CLIP-seq
MIRT1248238	hsa-miR-525-5p	CLIP-seq
MIRT1248239	hsa-miR-548c-3p	CLIP-seq
MIRT1248241	hsa-miR-552	CLIP-seq
MIRT2300386	hsa-miR-649	CLIP-seq
MIRT2073286	hsa-miR-650	CLIP-seq
MIRT2073287	hsa-miR-668	CLIP-seq
MIRT1248246	hsa-miR-762	CLIP-seq
MIRT2073288	hsa-miR-874	CLIP-seq
MIRT2073289	hsa-miR-890	CLIP-seq
MIRT2300387	hsa-miR-922	CLIP-seq
MIRT1248173	hsa-miR-103a	CLIP-seq
MIRT1248174	hsa-miR-107	CLIP-seq
MIRT1248175	hsa-miR-1184	CLIP-seq
MIRT1248181	hsa-miR-125a-3p	CLIP-seq
MIRT2597109	hsa-miR-1291	CLIP-seq
MIRT2073249	hsa-miR-145	CLIP-seq
MIRT2073250	hsa-miR-146b-3p	CLIP-seq
MIRT2597110	hsa-miR-147	CLIP-seq
MIRT1248187	hsa-miR-1976	CLIP-seq
MIRT2300380	hsa-miR-2277-3p	CLIP-seq
MIRT2597111	hsa-miR-298	CLIP-seq
MIRT2073256	hsa-miR-3173-5p	CLIP-seq
MIRT2073257	hsa-miR-3183	CLIP-seq
MIRT2597112	hsa-miR-3545-3p	CLIP-seq
MIRT2073263	hsa-miR-3614-5p	CLIP-seq
MIRT2597113	hsa-miR-3661	CLIP-seq
MIRT2597114	hsa-miR-3714	CLIP-seq
MIRT2073266	hsa-miR-3909	CLIP-seq
MIRT2597115	hsa-miR-3911	CLIP-seq
MIRT2300381	hsa-miR-3919	CLIP-seq
MIRT2597116	hsa-miR-4254	CLIP-seq
MIRT2073271	hsa-miR-4308	CLIP-seq
MIRT2073272	hsa-miR-4320	CLIP-seq
MIRT2597117	hsa-miR-4505	CLIP-seq
MIRT2597118	hsa-miR-4519	CLIP-seq
MIRT2597119	hsa-miR-4530	CLIP-seq
MIRT2300382	hsa-miR-4645-5p	CLIP-seq
MIRT2597120	hsa-miR-4648	CLIP-seq
MIRT2597121	hsa-miR-4654	CLIP-seq
MIRT2300383	hsa-miR-4673	CLIP-seq
MIRT1248227	hsa-miR-4710	CLIP-seq
MIRT2073280	hsa-miR-4723-3p	CLIP-seq
MIRT2300384	hsa-miR-4742-5p	CLIP-seq
MIRT2300385	hsa-miR-4755-3p	CLIP-seq
MIRT2597122	hsa-miR-4769-5p	CLIP-seq
MIRT1248241	hsa-miR-552	CLIP-seq
MIRT2597123	hsa-miR-631	CLIP-seq
MIRT2597124	hsa-miR-644	CLIP-seq
MIRT2300386	hsa-miR-649	CLIP-seq
MIRT2073287	hsa-miR-668	CLIP-seq
MIRT2073288	hsa-miR-874	CLIP-seq
MIRT2073289	hsa-miR-890	CLIP-seq
MIRT2300387	hsa-miR-922	CLIP-seq
MIRT2073250	hsa-miR-146b-3p	CLIP-seq
MIRT2597110	hsa-miR-147	CLIP-seq
MIRT2300380	hsa-miR-2277-3p	CLIP-seq
MIRT2073256	hsa-miR-3173-5p	CLIP-seq
MIRT2597112	hsa-miR-3545-3p	CLIP-seq
MIRT2073263	hsa-miR-3614-5p	CLIP-seq
MIRT2597113	hsa-miR-3661	CLIP-seq
MIRT2597115	hsa-miR-3911	CLIP-seq
MIRT2300381	hsa-miR-3919	CLIP-seq
MIRT2073271	hsa-miR-4308	CLIP-seq
MIRT2073272	hsa-miR-4320	CLIP-seq
MIRT2597118	hsa-miR-4519	CLIP-seq
MIRT2597119	hsa-miR-4530	CLIP-seq
MIRT2300382	hsa-miR-4645-5p	CLIP-seq
MIRT2597120	hsa-miR-4648	CLIP-seq
MIRT2597121	hsa-miR-4654	CLIP-seq
MIRT2300383	hsa-miR-4673	CLIP-seq
MIRT2300384	hsa-miR-4742-5p	CLIP-seq
MIRT2300385	hsa-miR-4755-3p	CLIP-seq
MIRT2597122	hsa-miR-4769-5p	CLIP-seq
MIRT2597123	hsa-miR-631	CLIP-seq
MIRT2597124	hsa-miR-644	CLIP-seq
MIRT2300386	hsa-miR-649	CLIP-seq
MIRT2073287	hsa-miR-668	CLIP-seq
MIRT2073288	hsa-miR-874	CLIP-seq
MIRT2073289	hsa-miR-890	CLIP-seq
MIRT2300387	hsa-miR-922	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001054	Function	RNA polymerase I activity	IMP	23782956
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	26089203
GO:0003899	Function	DNA-directed 5'-3' RNA polymerase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16514417, 19214185, 21555369, 25416956, 26089203, 26496610, 32296183
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	ISS
GO:0005736	Component	RNA polymerase I complex	IBA	21873635
GO:0006361	Process	Transcription initiation from RNA polymerase I promoter	TAS
GO:0006362	Process	Transcription elongation from RNA polymerase I promoter	TAS
GO:0006363	Process	Termination of RNA polymerase I transcription	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0045815	Process	Positive regulation of gene expression, epigenetic	TAS
GO:1904750	Process	Negative regulation of protein localization to nucleolus	IMP	23782956

MIM	HGNC	e!Ensembl
616404	17264	ENSG00000068654

Protein

UniProt ID

Protein name

DNA-directed RNA polymerase I subunit RPA1 (RNA polymerase I subunit A1) (EC 2.7.7.6) (A190) (DNA-directed RNA polymerase I largest subunit) (DNA-directed RNA polymerase I subunit A) (RNA polymerase I 194 kDa subunit) (RPA194)

Protein function

Catalytic core component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Transcribes 47S pre-rRNAs from multicopy rRNA gene cluster

PDB

7OB9 , 7OBA , 7OBB , 7VBA , 7VBB , 7VBC , 8A43

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04997	RNA_pol_Rpb1_1	9 → 357	RNA polymerase Rpb1, domain 1	Domain
PF00623	RNA_pol_Rpb1_2	434 → 614	RNA polymerase Rpb1, domain 2	Domain
PF04983	RNA_pol_Rpb1_3	617 → 802	RNA polymerase Rpb1, domain 3	Domain
PF05000	RNA_pol_Rpb1_4	837 → 951	RNA polymerase Rpb1, domain 4	Domain
PF04998	RNA_pol_Rpb1_5	958 → 1670	RNA polymerase Rpb1, domain 5	Domain

Sequence

MLISKNMPWRRLQGISFGMYSAEELKKLSVKSITNPRYLDSLGNPSANGLYDLALGPADS
KEVCSTCVQDFSNCSGHLGHIELPLTVYNPLLFDKLYLLLRGSCLNCHMLTCPRAVIHLL
LCQLRVLEVGALQAVYELERILNRFLEENPDPSASEIREELEQYTTEIVQNNLLGSQGAH
VKNVCESKSKLIALFWKAHMNAKRCPHCKTGRSVVRKEHNSKLTITFPAMVHRTAGQKDS
EPLGIEEAQIGKRGYLTPTSAREHLSALWKNEGFFLNYLFSGMDDDGMESRFNPSVFFLD
FLVVPPSRYRPVSRLGDQMFTNGQTVNLQAVMKDVVLIRKLLALMAQEQKLPEEVATPTT
DEEKDSLIAIDRSFLSTLPGQSLIDKLYNIWIRLQSHVNIVFDSEMDKLMMDKYPGIRQI
LEKKEGLFRKHMMGKRVDYAARSVICPDMYINTNEIGIPMVFATKLTYPQPVTPWNVQEL
RQAVINGPNVHPGASMVINEDGSRTALSAVDMTQREAVAKQLLTPATGAPKPQGTKIVCR
HVKNGDILLLNRQPTLHRPSIQAHRARILPEEKVLRLHYANCKAYNADFDGDEMNAHFPQ
SELGRAEAYVLACTDQQYLVPKDGQPLAGLIQDHMVSGASMTTRGCFFTREHYMELVYRG
LTDKVGRVKLLSPSILKPFPLWTGKQVVSTLLINIIPEDHIPLNLSGKAKITGKAWVKET
PRSVPGFNPDSMCESQVIIREGELLCGVLDKAHYGSSAYGLVHCCYEIYGGETSGKVLTC
LARLFTAYLQLYRGFTLGVEDILVKPKADVKRQRIIEESTHCGPQAVRAALNLPEAASYD
EVRGKWQDAHLGKDQRDFNMIDLKFKEEVNHYSNEINKACMPFGLHRQFPENSLQMMVQS
GAKGSTVNTMQISCLLGQIELEGRRPPLMASGKSLPCFEPYEFTPRAGGFVTGRFLTGIK
PPEFFFHCMAGREGLVDTAVKTSRSGYLQRCIIKHLEGLVVQYDLTVRDSDGSVVQFLYG
EDGLDIPKTQFLQPKQFPFLASNYEVIMKSQHLHEVLSRADPKKALHHFRAIKKWQSKHP
NTLLRRGAFLSYSQKIQEAVKALKLESENRNGRSPGTQEMLRMWYELDEESRRKYQKKAA
ACPDPSLSVWRPDIYFASVSETFETKVDDYSQEWAAQTEKSYEKSELSLDRLRTLLQLKW
QRSLCEPGEAVGLLAAQSIGEPSTQMTLNTFHFAGRGEMNVTLGIPRLREILMVASANIK
TPMMSVPVLNTKKALKRVKSLKKQLTRVCLGEVLQKIDVQESFCMEEKQNKFQVYQLRFQ
FLPHAYYQQEKCLRPEDILRFMETRFFKLLMESIKKKNNKASAFRNVNTRRATQRDLDNA
GELGRSRGEQEGDEEEEGHIVDAEAEEGDADASDAKRKEKQEEEVDYESEEEEEREGEEN
DDEDMQEERNPHREGARKTQEQDEEVGLGTEEDPSLPALLTQPRKPTHSQEPQGPEAMER
RVQAVREIHPFIDDYQYDTEESLWCQVTVKLPLMKINFDMSSLVVSLAHGAVIYATKGIT
RCLLNETTNNKNEKELVLNTEGINLPELFKYAEVLDLRRLYSNDIHAIANTYGIEAALRV
IEKEIKDVFAVYGIAVDPRHLSLVADYMCFEGVYKPLNRFGIRSNSSPLQQMTFETSFQF
LKQATMLGSHDELRSPSACLVVGKVVRGGTGLFELKQPLR

Sequence length

1720

Interactions

View interactions

	KEGG		Reactome
	RNA polymerase		B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape RNA Polymerase I Transcription Termination

Associated diseases

Show/Hide Causal Diseases (3)

Causal
Disease name	Disease term	dbSNP ID	References
Acrofacial dysostosis	Acrofacial Dysostosis, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE	rs794729674, rs875989814, rs1064795108, rs1377622831	25434003, 25434003, 25913037
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872

Show/Hide Unknown Diseases (10)

Unknown
Disease name	Disease term	dbSNP ID	References
Burn-mckeown syndrome	Burn-Mckeown syndrome		25913037
Choanal atresia	Choanal Atresia
Anotia	Congenital absence of external ear
Developmental dysplasia of the hip	Congenital Dysplasia Of The Hip
Dwarfism	Dwarfism
Heart septal defects	Heart Septal Defects
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Macrotia	Macrotia
Micrognathism	Micrognathism		25434003
Microtia	Congenital small ears

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