PHC1 (polyhomeotic homolog 1)

Gene

• Entrez ID: 1911
• Gene name: Polyhomeotic homolog 1
• Gene symbol: PHC1
• Synonyms (NCBI Gene): EDR1, HPH1, MCPH11, RAE28
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777036	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050613	hsa-miR-20a-5p	CLASH	23622248
MIRT036290	hsa-miR-1229-3p	CLASH	23622248
MIRT526843	hsa-miR-6757-3p	PAR-CLIP	22012620
MIRT526842	hsa-miR-3192-5p	PAR-CLIP	22012620
MIRT526841	hsa-miR-4751	PAR-CLIP	22012620
MIRT526840	hsa-miR-7154-3p	PAR-CLIP	22012620
MIRT526839	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT526838	hsa-miR-149-3p	PAR-CLIP	22012620
MIRT526837	hsa-miR-4728-5p	PAR-CLIP	22012620
MIRT526836	hsa-miR-6785-5p	PAR-CLIP	22012620
MIRT526835	hsa-miR-6883-5p	PAR-CLIP	22012620
MIRT526834	hsa-miR-6799-5p	PAR-CLIP	22012620
MIRT526833	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT526832	hsa-miR-4723-5p	PAR-CLIP	22012620
MIRT526831	hsa-miR-5698	PAR-CLIP	22012620
MIRT526830	hsa-miR-6870-5p	PAR-CLIP	22012620
MIRT526829	hsa-miR-7111-5p	PAR-CLIP	22012620
MIRT526828	hsa-miR-6795-5p	PAR-CLIP	22012620
MIRT526827	hsa-miR-6887-5p	PAR-CLIP	22012620
MIRT526826	hsa-miR-5089-3p	PAR-CLIP	22012620
MIRT526825	hsa-miR-1273h-5p	PAR-CLIP	22012620
MIRT526824	hsa-miR-30b-3p	PAR-CLIP	22012620
MIRT526823	hsa-miR-3689a-3p	PAR-CLIP	22012620
MIRT526822	hsa-miR-3689b-3p	PAR-CLIP	22012620
MIRT526821	hsa-miR-3689c	PAR-CLIP	22012620
MIRT526820	hsa-miR-6779-5p	PAR-CLIP	22012620
MIRT526819	hsa-miR-6780a-5p	PAR-CLIP	22012620
MIRT526818	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT526843	hsa-miR-6757-3p	PAR-CLIP	22012620
MIRT526842	hsa-miR-3192-5p	PAR-CLIP	22012620
MIRT526841	hsa-miR-4751	PAR-CLIP	22012620
MIRT526840	hsa-miR-7154-3p	PAR-CLIP	22012620
MIRT526839	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT526838	hsa-miR-149-3p	PAR-CLIP	22012620
MIRT526837	hsa-miR-4728-5p	PAR-CLIP	22012620
MIRT526836	hsa-miR-6785-5p	PAR-CLIP	22012620
MIRT526835	hsa-miR-6883-5p	PAR-CLIP	22012620
MIRT526834	hsa-miR-6799-5p	PAR-CLIP	22012620
MIRT526833	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT526832	hsa-miR-4723-5p	PAR-CLIP	22012620
MIRT526831	hsa-miR-5698	PAR-CLIP	22012620
MIRT526830	hsa-miR-6870-5p	PAR-CLIP	22012620
MIRT526829	hsa-miR-7111-5p	PAR-CLIP	22012620
MIRT526828	hsa-miR-6795-5p	PAR-CLIP	22012620
MIRT526827	hsa-miR-6887-5p	PAR-CLIP	22012620
MIRT526826	hsa-miR-5089-3p	PAR-CLIP	22012620
MIRT526825	hsa-miR-1273h-5p	PAR-CLIP	22012620
MIRT526824	hsa-miR-30b-3p	PAR-CLIP	22012620
MIRT526823	hsa-miR-3689a-3p	PAR-CLIP	22012620
MIRT526822	hsa-miR-3689b-3p	PAR-CLIP	22012620
MIRT526821	hsa-miR-3689c	PAR-CLIP	22012620
MIRT526820	hsa-miR-6779-5p	PAR-CLIP	22012620
MIRT526819	hsa-miR-6780a-5p	PAR-CLIP	22012620
MIRT526818	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT1229452	hsa-miR-122	CLIP-seq
MIRT1229453	hsa-miR-1237	CLIP-seq
MIRT1229454	hsa-miR-1266	CLIP-seq
MIRT1229455	hsa-miR-1305	CLIP-seq
MIRT1229456	hsa-miR-1470	CLIP-seq
MIRT1229457	hsa-miR-149	CLIP-seq
MIRT1229458	hsa-miR-186	CLIP-seq
MIRT1229459	hsa-miR-192	CLIP-seq
MIRT1229460	hsa-miR-2114	CLIP-seq
MIRT1229461	hsa-miR-215	CLIP-seq
MIRT1229462	hsa-miR-24	CLIP-seq
MIRT1229463	hsa-miR-298	CLIP-seq
MIRT1229464	hsa-miR-3185	CLIP-seq
MIRT1229465	hsa-miR-3189-5p	CLIP-seq
MIRT1229466	hsa-miR-3198	CLIP-seq
MIRT1229467	hsa-miR-324-5p	CLIP-seq
MIRT1229468	hsa-miR-361-3p	CLIP-seq
MIRT1229469	hsa-miR-3620	CLIP-seq
MIRT1229470	hsa-miR-3646	CLIP-seq
MIRT1229471	hsa-miR-3662	CLIP-seq
MIRT1229472	hsa-miR-3671	CLIP-seq
MIRT1229473	hsa-miR-4270	CLIP-seq
MIRT1229474	hsa-miR-4284	CLIP-seq
MIRT1229475	hsa-miR-4309	CLIP-seq
MIRT1229476	hsa-miR-4441	CLIP-seq
MIRT1229477	hsa-miR-4518	CLIP-seq
MIRT1229478	hsa-miR-4540	CLIP-seq
MIRT1229479	hsa-miR-4667-3p	CLIP-seq
MIRT1229480	hsa-miR-4758-3p	CLIP-seq
MIRT1229481	hsa-miR-4765	CLIP-seq
MIRT1229482	hsa-miR-4777-5p	CLIP-seq
MIRT1229483	hsa-miR-518d-5p	CLIP-seq
MIRT1229484	hsa-miR-519b-5p	CLIP-seq
MIRT1229485	hsa-miR-519c-5p	CLIP-seq
MIRT1229486	hsa-miR-520c-5p	CLIP-seq
MIRT1229487	hsa-miR-526a	CLIP-seq
MIRT1229488	hsa-miR-548aa	CLIP-seq
MIRT1229489	hsa-miR-548ac	CLIP-seq
MIRT1229490	hsa-miR-548d-3p	CLIP-seq
MIRT1229491	hsa-miR-548z	CLIP-seq
MIRT1229492	hsa-miR-549	CLIP-seq
MIRT1229453	hsa-miR-1237	CLIP-seq
MIRT2067189	hsa-miR-4303	CLIP-seq
MIRT2294789	hsa-miR-1197	CLIP-seq
MIRT1229455	hsa-miR-1305	CLIP-seq
MIRT2067189	hsa-miR-4303	CLIP-seq
MIRT2294790	hsa-miR-513a-3p	CLIP-seq
MIRT2392457	hsa-miR-4443	CLIP-seq
MIRT2392458	hsa-miR-4654	CLIP-seq
MIRT2392459	hsa-miR-4769-5p	CLIP-seq
MIRT2456316	hsa-miR-103a	CLIP-seq
MIRT2456317	hsa-miR-107	CLIP-seq
MIRT2456318	hsa-miR-1184	CLIP-seq
MIRT1229460	hsa-miR-2114	CLIP-seq
MIRT2456319	hsa-miR-224	CLIP-seq
MIRT1229463	hsa-miR-298	CLIP-seq
MIRT2456320	hsa-miR-3064-3p	CLIP-seq
MIRT2456321	hsa-miR-3180-5p	CLIP-seq
MIRT2456322	hsa-miR-520a-5p	CLIP-seq
MIRT2456323	hsa-miR-525-5p	CLIP-seq
MIRT2456324	hsa-miR-922	CLIP-seq
MIRT2456320	hsa-miR-3064-3p	CLIP-seq
MIRT2456321	hsa-miR-3180-5p	CLIP-seq
MIRT2456322	hsa-miR-520a-5p	CLIP-seq
MIRT2456323	hsa-miR-525-5p	CLIP-seq
MIRT2592559	hsa-miR-1	CLIP-seq
MIRT2456316	hsa-miR-103a	CLIP-seq
MIRT2456317	hsa-miR-107	CLIP-seq
MIRT2456318	hsa-miR-1184	CLIP-seq
MIRT1229453	hsa-miR-1237	CLIP-seq
MIRT1229454	hsa-miR-1266	CLIP-seq
MIRT2592560	hsa-miR-1270	CLIP-seq
MIRT2592561	hsa-miR-1284	CLIP-seq
MIRT2592562	hsa-miR-1292	CLIP-seq
MIRT2592563	hsa-miR-1302	CLIP-seq
MIRT2592564	hsa-miR-142-5p	CLIP-seq
MIRT2592565	hsa-miR-146a	CLIP-seq
MIRT2592566	hsa-miR-146b-5p	CLIP-seq
MIRT1229457	hsa-miR-149	CLIP-seq
MIRT2592567	hsa-miR-191	CLIP-seq
MIRT2592568	hsa-miR-1912	CLIP-seq
MIRT2592569	hsa-miR-193a-3p	CLIP-seq
MIRT2592570	hsa-miR-193b	CLIP-seq
MIRT2592571	hsa-miR-203	CLIP-seq
MIRT2592572	hsa-miR-206	CLIP-seq
MIRT2592573	hsa-miR-208a	CLIP-seq
MIRT2592574	hsa-miR-208b	CLIP-seq
MIRT1229460	hsa-miR-2114	CLIP-seq
MIRT2592575	hsa-miR-22	CLIP-seq
MIRT2456319	hsa-miR-224	CLIP-seq
MIRT1229462	hsa-miR-24	CLIP-seq
MIRT1229463	hsa-miR-298	CLIP-seq
MIRT2456320	hsa-miR-3064-3p	CLIP-seq
MIRT2592576	hsa-miR-3064-5p	CLIP-seq
MIRT2592577	hsa-miR-3130-3p	CLIP-seq
MIRT2592578	hsa-miR-3130-5p	CLIP-seq
MIRT2592579	hsa-miR-3148	CLIP-seq
MIRT2456321	hsa-miR-3180-5p	CLIP-seq
MIRT1229465	hsa-miR-3189-5p	CLIP-seq
MIRT2592580	hsa-miR-3190	CLIP-seq
MIRT2592581	hsa-miR-3194-3p	CLIP-seq
MIRT2592582	hsa-miR-320a	CLIP-seq
MIRT2592583	hsa-miR-320b	CLIP-seq
MIRT2592584	hsa-miR-320c	CLIP-seq
MIRT2592585	hsa-miR-320d	CLIP-seq
MIRT2592586	hsa-miR-330-3p	CLIP-seq
MIRT2592587	hsa-miR-340	CLIP-seq
MIRT2592588	hsa-miR-3607-3p	CLIP-seq
MIRT2592589	hsa-miR-3652	CLIP-seq
MIRT2592590	hsa-miR-3661	CLIP-seq
MIRT2592591	hsa-miR-3667-5p	CLIP-seq
MIRT1229472	hsa-miR-3671	CLIP-seq
MIRT2592592	hsa-miR-3673	CLIP-seq
MIRT2592593	hsa-miR-3691-3p	CLIP-seq
MIRT2592594	hsa-miR-378g	CLIP-seq
MIRT2592595	hsa-miR-3909	CLIP-seq
MIRT2592596	hsa-miR-3911	CLIP-seq
MIRT2592597	hsa-miR-3919	CLIP-seq
MIRT2592598	hsa-miR-3924	CLIP-seq
MIRT2592599	hsa-miR-3929	CLIP-seq
MIRT1229473	hsa-miR-4270	CLIP-seq
MIRT2592600	hsa-miR-4275	CLIP-seq
MIRT1229474	hsa-miR-4284	CLIP-seq
MIRT2592601	hsa-miR-4298	CLIP-seq
MIRT2592602	hsa-miR-432	CLIP-seq
MIRT2592603	hsa-miR-4419b	CLIP-seq
MIRT2592604	hsa-miR-4429	CLIP-seq
MIRT2592605	hsa-miR-4430	CLIP-seq
MIRT2592606	hsa-miR-4434	CLIP-seq
MIRT1229476	hsa-miR-4441	CLIP-seq
MIRT2592607	hsa-miR-4450	CLIP-seq
MIRT2592608	hsa-miR-4455	CLIP-seq
MIRT2592609	hsa-miR-4478	CLIP-seq
MIRT2592610	hsa-miR-4482	CLIP-seq
MIRT2592611	hsa-miR-4505	CLIP-seq
MIRT2592612	hsa-miR-4516	CLIP-seq
MIRT1229477	hsa-miR-4518	CLIP-seq
MIRT2592613	hsa-miR-4531	CLIP-seq
MIRT1229478	hsa-miR-4540	CLIP-seq
MIRT2592614	hsa-miR-455-5p	CLIP-seq
MIRT2592615	hsa-miR-4648	CLIP-seq
MIRT2592616	hsa-miR-4652-3p	CLIP-seq
MIRT2592617	hsa-miR-4659a-5p	CLIP-seq
MIRT2592618	hsa-miR-4659b-5p	CLIP-seq
MIRT2592619	hsa-miR-4667-5p	CLIP-seq
MIRT2592620	hsa-miR-4691-3p	CLIP-seq
MIRT2592621	hsa-miR-4691-5p	CLIP-seq
MIRT2592622	hsa-miR-4700-5p	CLIP-seq
MIRT2592623	hsa-miR-4710	CLIP-seq
MIRT2592624	hsa-miR-4711-3p	CLIP-seq
MIRT2592625	hsa-miR-4713-3p	CLIP-seq
MIRT2592626	hsa-miR-4721	CLIP-seq
MIRT2592627	hsa-miR-4722-3p	CLIP-seq
MIRT2592628	hsa-miR-4731-5p	CLIP-seq
MIRT1229480	hsa-miR-4758-3p	CLIP-seq
MIRT2592629	hsa-miR-4769-3p	CLIP-seq
MIRT1229482	hsa-miR-4777-5p	CLIP-seq
MIRT2592630	hsa-miR-4778-3p	CLIP-seq
MIRT2592631	hsa-miR-4792	CLIP-seq
MIRT2592632	hsa-miR-4795-5p	CLIP-seq
MIRT2592633	hsa-miR-490-5p	CLIP-seq
MIRT2592634	hsa-miR-499-5p	CLIP-seq
MIRT2592635	hsa-miR-502-5p	CLIP-seq
MIRT2592636	hsa-miR-508-5p	CLIP-seq
MIRT2294790	hsa-miR-513a-3p	CLIP-seq
MIRT1229483	hsa-miR-518d-5p	CLIP-seq
MIRT1229484	hsa-miR-519b-5p	CLIP-seq
MIRT1229485	hsa-miR-519c-5p	CLIP-seq
MIRT2456322	hsa-miR-520a-5p	CLIP-seq
MIRT1229486	hsa-miR-520c-5p	CLIP-seq
MIRT2592637	hsa-miR-522	CLIP-seq
MIRT2456323	hsa-miR-525-5p	CLIP-seq
MIRT1229487	hsa-miR-526a	CLIP-seq
MIRT2592638	hsa-miR-548a-5p	CLIP-seq
MIRT2592639	hsa-miR-548ab	CLIP-seq
MIRT2592640	hsa-miR-548ag	CLIP-seq
MIRT2592641	hsa-miR-548ai	CLIP-seq
MIRT2592642	hsa-miR-548ak	CLIP-seq
MIRT2592643	hsa-miR-548b-5p	CLIP-seq
MIRT2592644	hsa-miR-548c-5p	CLIP-seq
MIRT2592645	hsa-miR-548d-5p	CLIP-seq
MIRT2592646	hsa-miR-548h	CLIP-seq
MIRT2592647	hsa-miR-548i	CLIP-seq
MIRT2592648	hsa-miR-548j	CLIP-seq
MIRT2592649	hsa-miR-548k	CLIP-seq
MIRT2592650	hsa-miR-548l	CLIP-seq
MIRT2592651	hsa-miR-548w	CLIP-seq
MIRT2592652	hsa-miR-548y	CLIP-seq
MIRT1229492	hsa-miR-549	CLIP-seq
MIRT2592653	hsa-miR-559	CLIP-seq
MIRT2592654	hsa-miR-589	CLIP-seq
MIRT2592655	hsa-miR-609	CLIP-seq
MIRT2592656	hsa-miR-613	CLIP-seq
MIRT2592657	hsa-miR-620	CLIP-seq
MIRT2592658	hsa-miR-626	CLIP-seq
MIRT2592659	hsa-miR-630	CLIP-seq
MIRT2592660	hsa-miR-631	CLIP-seq
MIRT2592661	hsa-miR-665	CLIP-seq
MIRT2592662	hsa-miR-760	CLIP-seq
MIRT2592663	hsa-miR-892b	CLIP-seq
MIRT2456324	hsa-miR-922	CLIP-seq
MIRT2592560	hsa-miR-1270	CLIP-seq
MIRT1229458	hsa-miR-186	CLIP-seq
MIRT2592573	hsa-miR-208a	CLIP-seq
MIRT2592574	hsa-miR-208b	CLIP-seq
MIRT2456319	hsa-miR-224	CLIP-seq
MIRT1229463	hsa-miR-298	CLIP-seq
MIRT2456320	hsa-miR-3064-3p	CLIP-seq
MIRT2592578	hsa-miR-3130-5p	CLIP-seq
MIRT2456321	hsa-miR-3180-5p	CLIP-seq
MIRT2592590	hsa-miR-3661	CLIP-seq
MIRT2592591	hsa-miR-3667-5p	CLIP-seq
MIRT2592598	hsa-miR-3924	CLIP-seq
MIRT2592602	hsa-miR-432	CLIP-seq
MIRT2592606	hsa-miR-4434	CLIP-seq
MIRT2592610	hsa-miR-4482	CLIP-seq
MIRT2592612	hsa-miR-4516	CLIP-seq
MIRT2592613	hsa-miR-4531	CLIP-seq
MIRT2392458	hsa-miR-4654	CLIP-seq
MIRT2592621	hsa-miR-4691-5p	CLIP-seq
MIRT2392459	hsa-miR-4769-5p	CLIP-seq
MIRT2592634	hsa-miR-499-5p	CLIP-seq
MIRT2592635	hsa-miR-502-5p	CLIP-seq
MIRT2456322	hsa-miR-520a-5p	CLIP-seq
MIRT2456323	hsa-miR-525-5p	CLIP-seq
MIRT1229492	hsa-miR-549	CLIP-seq
MIRT2592657	hsa-miR-620	CLIP-seq
MIRT2592659	hsa-miR-630	CLIP-seq
MIRT2592660	hsa-miR-631	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001739	Component	Sex chromatin	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19636380, 20601937, 23523425, 27705803, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21282530
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9121482
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006338	Process	Chromatin remodeling	IMP	23418308
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0031519	Component	PcG protein complex	IDA	21282530
GO:0035102	Component	PRC1 complex	IBA
GO:0035102	Component	PRC1 complex	IDA	12167701, 19636380
GO:0035102	Component	PRC1 complex	IEA
GO:0042393	Function	Histone binding	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 602978
• HGNC: 3182
• e!Ensembl: ENSG00000111752

Protein

• UniProt ID: P78364
• Protein name: Polyhomeotic-like protein 1 (hPH1) (Early development regulatory protein 1)
• Protein function: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remod
• PDB: 2L8E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16616	PHC2_SAM_assoc	828 → 935		Disordered
  PF00536	SAM_1	938 → 1002	SAM domain (Sterile alpha motif)	Domain

• Sequence:

  METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQ
  QLSNAQLHSLAAVQQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSV
  SSPSATTLTQSVLLGNTTSPPLNQSQAQMYLRPQLGNLLQVNRTLGRNVPLASQLILMPN
  GAVAAVQQEVPSAQSPGVHADADQVQNLAVRNQQASAQGPQMQGSTQKAIPPGASPVSSL
  SQASSQALAVAQASSGATNQSLNLSQAGGGSGNSIPGSMGPGGGGQAHGGLGQLPSSGMG
  GGSCPRKGTGVVQPLPAAQTVTVSQGSQTEAESAAAKKAEADGSGQQNVGMNLTRTATPA
  PSQTLISSATYTQIQPHSLIQQQQQIHLQQKQVVIQQQIAIHHQQQFQHRQSQLLHTATH
  LQLAQQQQQQQQQQQQQQQPQATTLTAPQPPQVPPTQQVPPSQSQQQAQTLVVQPMLQSS
  PLSLPPDAAPKPPIPIQSKPPVAPIKPPQLGAAKMSAAQQPPPHIPVQVVGTRQPGTAQA
  QALGLAQLAAAVPTSRGMPGTVQSGQAHLASSPPSSQAPGALQECPPTLAPGMTLAPVQG
  TAHVVKGGATTSSPVVAQVPAAFYMQSVHLPGKPQTLAVKRKADSEEERDDVSTLGSMLP
  AKASPVAESPKVMDEKSSLGEKAESVANVNANTPSSELVALTPAPSVPPPTLAMVSRQMG
  DSKPPQAIVKPQILTHIIEGFVIQEGAEPFPVGCSQLLKESEKPLQTGLPTGLTENQSGG
  PLGVDSPSAELDKKANLLKCEYCGKYAPAEQFRGSKRFCSMTCAKRYNVSCSHQFRLKRK
  KMKEFQEANYARVRRRGPRRSSSDIARAKIQGKCHRGQEDSSRGSDNSSYDEALSPTSPG
  PLSVRAGHGERDLGNPNTAPPTPELHGINPVFLSSNPSRWSVEEVYEFIASLQGCQEIAE
  EFRSQEIDGQALLLLKEEHLMSAMNIKLGPALKICAKINVLKET

• Sequence length: 1004

Pathways

KEGG:

Polycomb repressive complex

Reactome:

Oxidative Stress Induced Senescence
SUMOylation of DNA damage response and repair proteins
SUMOylation of transcription cofactors
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Regulation of PTEN gene transcription
Transcriptional Regulation by E2F6

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Intellectual disability	Likely pathogenic; Pathogenic	rs587777036	RCV000162141
Microcephaly 11, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs2137054010, rs587777036	RCV001806371 RCV000055626
Primary microcephaly	Likely pathogenic; Pathogenic	rs587777036	RCV000162141

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Gastric cancer	Likely benign	rs370773541	RCV005935593
Germ cell tumor of testis	Benign	rs16917905	RCV005923731
PHC1-related disorder	Likely benign; Uncertain significance	rs370773541, rs768420929, rs1945888744, rs201150017, rs144307674, rs141256799	RCV003964677 RCV003942088 RCV003961746 RCV003917127 RCV003925486 RCV003979896
Uterine carcinosarcoma	Benign	rs16917905	RCV005923730
Uveal melanoma	Benign	rs16917905	RCV005923729

Associations from Text Mining
Disease Name	Relationship Type	References
Lymphoma B Cell	Associate	14742259
Prostatic Neoplasms	Associate	37143720
Testicular Germ Cell Tumor	Associate	16528373