AHCTF1 (AT-hook containing transcription factor 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 25909
• Gene name: AT-hook containing transcription factor 1
• Gene symbol: AHCTF1
• Synonyms (NCBI Gene): ELYS, MST108, MSTP108, TMBS62
• Chromosome: 1
• Chromosome location: 1q44

miRNA Show/Hide all (316)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032376	hsa-let-7b-5p	Proteomics	18668040
MIRT045210	hsa-miR-186-5p	CLASH	23622248
MIRT773252	hsa-let-7a	CLIP-seq
MIRT773253	hsa-let-7b	CLIP-seq
MIRT773254	hsa-let-7c	CLIP-seq
MIRT773255	hsa-let-7d	CLIP-seq
MIRT773256	hsa-let-7e	CLIP-seq
MIRT773257	hsa-let-7f	CLIP-seq
MIRT773258	hsa-let-7g	CLIP-seq
MIRT773259	hsa-let-7i	CLIP-seq
MIRT773260	hsa-miR-106a	CLIP-seq
MIRT773261	hsa-miR-106b	CLIP-seq
MIRT773262	hsa-miR-1237	CLIP-seq
MIRT773263	hsa-miR-1283	CLIP-seq
MIRT773264	hsa-miR-1304	CLIP-seq
MIRT773265	hsa-miR-17	CLIP-seq
MIRT773266	hsa-miR-202	CLIP-seq
MIRT773267	hsa-miR-208a	CLIP-seq
MIRT773268	hsa-miR-208b	CLIP-seq
MIRT773269	hsa-miR-20a	CLIP-seq
MIRT773270	hsa-miR-20b	CLIP-seq
MIRT773271	hsa-miR-218	CLIP-seq
MIRT773272	hsa-miR-219-2-3p	CLIP-seq
MIRT773273	hsa-miR-300	CLIP-seq
MIRT773274	hsa-miR-3152-3p	CLIP-seq
MIRT773275	hsa-miR-3161	CLIP-seq
MIRT773276	hsa-miR-3182	CLIP-seq
MIRT773277	hsa-miR-323b-3p	CLIP-seq
MIRT773278	hsa-miR-324-5p	CLIP-seq
MIRT773279	hsa-miR-325	CLIP-seq
MIRT773280	hsa-miR-338-5p	CLIP-seq
MIRT773281	hsa-miR-34b	CLIP-seq
MIRT773282	hsa-miR-3611	CLIP-seq
MIRT773283	hsa-miR-3613-3p	CLIP-seq
MIRT773284	hsa-miR-3646	CLIP-seq
MIRT773285	hsa-miR-3658	CLIP-seq
MIRT773286	hsa-miR-3659	CLIP-seq
MIRT773287	hsa-miR-3662	CLIP-seq
MIRT773288	hsa-miR-3663-5p	CLIP-seq
MIRT773289	hsa-miR-377	CLIP-seq
MIRT773290	hsa-miR-381	CLIP-seq
MIRT773291	hsa-miR-3927	CLIP-seq
MIRT773292	hsa-miR-3941	CLIP-seq
MIRT773293	hsa-miR-3973	CLIP-seq
MIRT773294	hsa-miR-410	CLIP-seq
MIRT773295	hsa-miR-4282	CLIP-seq
MIRT773296	hsa-miR-4426	CLIP-seq
MIRT773297	hsa-miR-4427	CLIP-seq
MIRT773298	hsa-miR-4432	CLIP-seq
MIRT773299	hsa-miR-4458	CLIP-seq
MIRT773300	hsa-miR-4463	CLIP-seq
MIRT773301	hsa-miR-4470	CLIP-seq
MIRT773302	hsa-miR-4474-5p	CLIP-seq
MIRT773303	hsa-miR-4500	CLIP-seq
MIRT773304	hsa-miR-4528	CLIP-seq
MIRT773305	hsa-miR-4647	CLIP-seq
MIRT773306	hsa-miR-4652-3p	CLIP-seq
MIRT773307	hsa-miR-4653-3p	CLIP-seq
MIRT773308	hsa-miR-4658	CLIP-seq
MIRT773309	hsa-miR-466	CLIP-seq
MIRT773310	hsa-miR-4662b	CLIP-seq
MIRT773311	hsa-miR-4668-3p	CLIP-seq
MIRT773312	hsa-miR-4672	CLIP-seq
MIRT773313	hsa-miR-4680-3p	CLIP-seq
MIRT773314	hsa-miR-4698	CLIP-seq
MIRT773315	hsa-miR-4699-3p	CLIP-seq
MIRT773316	hsa-miR-4705	CLIP-seq
MIRT773317	hsa-miR-4709-3p	CLIP-seq
MIRT773318	hsa-miR-4716-5p	CLIP-seq
MIRT773319	hsa-miR-4731-3p	CLIP-seq
MIRT773320	hsa-miR-4738-3p	CLIP-seq
MIRT773321	hsa-miR-4740-5p	CLIP-seq
MIRT773322	hsa-miR-4801	CLIP-seq
MIRT773323	hsa-miR-4802-5p	CLIP-seq
MIRT773324	hsa-miR-483-3p	CLIP-seq
MIRT773325	hsa-miR-489	CLIP-seq
MIRT773326	hsa-miR-490-3p	CLIP-seq
MIRT773327	hsa-miR-494	CLIP-seq
MIRT773328	hsa-miR-499-5p	CLIP-seq
MIRT773329	hsa-miR-505	CLIP-seq
MIRT773330	hsa-miR-519a	CLIP-seq
MIRT773331	hsa-miR-519b-3p	CLIP-seq
MIRT773332	hsa-miR-519c-3p	CLIP-seq
MIRT773333	hsa-miR-519d	CLIP-seq
MIRT773334	hsa-miR-520d-5p	CLIP-seq
MIRT773335	hsa-miR-520g	CLIP-seq
MIRT773336	hsa-miR-520h	CLIP-seq
MIRT773337	hsa-miR-524-5p	CLIP-seq
MIRT773338	hsa-miR-548c-3p	CLIP-seq
MIRT773339	hsa-miR-574-5p	CLIP-seq
MIRT773340	hsa-miR-579	CLIP-seq
MIRT773341	hsa-miR-601	CLIP-seq
MIRT773342	hsa-miR-607	CLIP-seq
MIRT773343	hsa-miR-619	CLIP-seq
MIRT773344	hsa-miR-628-3p	CLIP-seq
MIRT773345	hsa-miR-646	CLIP-seq
MIRT773346	hsa-miR-649	CLIP-seq
MIRT773347	hsa-miR-664	CLIP-seq
MIRT773348	hsa-miR-758	CLIP-seq
MIRT773349	hsa-miR-885-5p	CLIP-seq
MIRT773350	hsa-miR-890	CLIP-seq
MIRT773351	hsa-miR-93	CLIP-seq
MIRT773352	hsa-miR-98	CLIP-seq
MIRT773306	hsa-miR-4652-3p	CLIP-seq
MIRT773262	hsa-miR-1237	CLIP-seq
MIRT1928234	hsa-miR-205	CLIP-seq
MIRT1928235	hsa-miR-27a	CLIP-seq
MIRT1928236	hsa-miR-27b	CLIP-seq
MIRT1928237	hsa-miR-28-3p	CLIP-seq
MIRT1928238	hsa-miR-3120-3p	CLIP-seq
MIRT1928239	hsa-miR-3143	CLIP-seq
MIRT1928240	hsa-miR-3145-3p	CLIP-seq
MIRT1928241	hsa-miR-3163	CLIP-seq
MIRT773276	hsa-miR-3182	CLIP-seq
MIRT1928242	hsa-miR-329	CLIP-seq
MIRT773281	hsa-miR-34b	CLIP-seq
MIRT1928243	hsa-miR-362-3p	CLIP-seq
MIRT1928244	hsa-miR-3925-5p	CLIP-seq
MIRT773292	hsa-miR-3941	CLIP-seq
MIRT1928245	hsa-miR-3942-5p	CLIP-seq
MIRT773294	hsa-miR-410	CLIP-seq
MIRT773295	hsa-miR-4282	CLIP-seq
MIRT1928246	hsa-miR-4448	CLIP-seq
MIRT1928247	hsa-miR-451b	CLIP-seq
MIRT773307	hsa-miR-4653-3p	CLIP-seq
MIRT1928248	hsa-miR-4659a-3p	CLIP-seq
MIRT1928249	hsa-miR-4659b-3p	CLIP-seq
MIRT773309	hsa-miR-466	CLIP-seq
MIRT773312	hsa-miR-4672	CLIP-seq
MIRT773315	hsa-miR-4699-3p	CLIP-seq
MIRT1928250	hsa-miR-4703-5p	CLIP-seq
MIRT773316	hsa-miR-4705	CLIP-seq
MIRT773317	hsa-miR-4709-3p	CLIP-seq
MIRT1928251	hsa-miR-4762-3p	CLIP-seq
MIRT1928252	hsa-miR-4773	CLIP-seq
MIRT773323	hsa-miR-4802-5p	CLIP-seq
MIRT773324	hsa-miR-483-3p	CLIP-seq
MIRT773327	hsa-miR-494	CLIP-seq
MIRT1928253	hsa-miR-513a-5p	CLIP-seq
MIRT1928254	hsa-miR-543	CLIP-seq
MIRT773338	hsa-miR-548c-3p	CLIP-seq
MIRT1928255	hsa-miR-603	CLIP-seq
MIRT1928256	hsa-miR-633	CLIP-seq
MIRT1928257	hsa-miR-656	CLIP-seq
MIRT773347	hsa-miR-664	CLIP-seq
MIRT773349	hsa-miR-885-5p	CLIP-seq
MIRT773252	hsa-let-7a	CLIP-seq
MIRT773253	hsa-let-7b	CLIP-seq
MIRT773254	hsa-let-7c	CLIP-seq
MIRT773255	hsa-let-7d	CLIP-seq
MIRT773256	hsa-let-7e	CLIP-seq
MIRT773257	hsa-let-7f	CLIP-seq
MIRT773258	hsa-let-7g	CLIP-seq
MIRT773259	hsa-let-7i	CLIP-seq
MIRT2168970	hsa-miR-1183	CLIP-seq
MIRT2168971	hsa-miR-1202	CLIP-seq
MIRT773262	hsa-miR-1237	CLIP-seq
MIRT2168972	hsa-miR-1254	CLIP-seq
MIRT2168973	hsa-miR-1269	CLIP-seq
MIRT2168974	hsa-miR-1269b	CLIP-seq
MIRT2168975	hsa-miR-1288	CLIP-seq
MIRT2168976	hsa-miR-1297	CLIP-seq
MIRT773264	hsa-miR-1304	CLIP-seq
MIRT2168977	hsa-miR-1305	CLIP-seq
MIRT2168978	hsa-miR-142-5p	CLIP-seq
MIRT2168979	hsa-miR-181a	CLIP-seq
MIRT2168980	hsa-miR-181b	CLIP-seq
MIRT2168981	hsa-miR-181c	CLIP-seq
MIRT2168982	hsa-miR-181d	CLIP-seq
MIRT2168983	hsa-miR-197	CLIP-seq
MIRT773266	hsa-miR-202	CLIP-seq
MIRT773267	hsa-miR-208a	CLIP-seq
MIRT773268	hsa-miR-208b	CLIP-seq
MIRT2168984	hsa-miR-25	CLIP-seq
MIRT2168985	hsa-miR-26a	CLIP-seq
MIRT2168986	hsa-miR-26b	CLIP-seq
MIRT773273	hsa-miR-300	CLIP-seq
MIRT2168987	hsa-miR-302f	CLIP-seq
MIRT2168988	hsa-miR-3065-5p	CLIP-seq
MIRT2168989	hsa-miR-3116	CLIP-seq
MIRT2168990	hsa-miR-3123	CLIP-seq
MIRT1928239	hsa-miR-3143	CLIP-seq
MIRT2168991	hsa-miR-3148	CLIP-seq
MIRT2168992	hsa-miR-3160-5p	CLIP-seq
MIRT773275	hsa-miR-3161	CLIP-seq
MIRT1928241	hsa-miR-3163	CLIP-seq
MIRT773276	hsa-miR-3182	CLIP-seq
MIRT2168993	hsa-miR-32	CLIP-seq
MIRT773279	hsa-miR-325	CLIP-seq
MIRT1928242	hsa-miR-329	CLIP-seq
MIRT2168994	hsa-miR-340	CLIP-seq
MIRT773281	hsa-miR-34b	CLIP-seq
MIRT2168995	hsa-miR-34c-3p	CLIP-seq
MIRT773282	hsa-miR-3611	CLIP-seq
MIRT773283	hsa-miR-3613-3p	CLIP-seq
MIRT2168996	hsa-miR-3613-5p	CLIP-seq
MIRT2168997	hsa-miR-3617	CLIP-seq
MIRT1928243	hsa-miR-362-3p	CLIP-seq
MIRT2168998	hsa-miR-363	CLIP-seq
MIRT773284	hsa-miR-3646	CLIP-seq
MIRT773285	hsa-miR-3658	CLIP-seq
MIRT773287	hsa-miR-3662	CLIP-seq
MIRT773288	hsa-miR-3663-5p	CLIP-seq
MIRT2168999	hsa-miR-367	CLIP-seq
MIRT2169000	hsa-miR-3690	CLIP-seq
MIRT2169001	hsa-miR-3714	CLIP-seq
MIRT773289	hsa-miR-377	CLIP-seq
MIRT2169002	hsa-miR-378	CLIP-seq
MIRT2169003	hsa-miR-378b	CLIP-seq
MIRT2169004	hsa-miR-378c	CLIP-seq
MIRT2169005	hsa-miR-378d	CLIP-seq
MIRT2169006	hsa-miR-378e	CLIP-seq
MIRT2169007	hsa-miR-378f	CLIP-seq
MIRT2169008	hsa-miR-378h	CLIP-seq
MIRT2169009	hsa-miR-378i	CLIP-seq
MIRT773290	hsa-miR-381	CLIP-seq
MIRT1928244	hsa-miR-3925-5p	CLIP-seq
MIRT773291	hsa-miR-3927	CLIP-seq
MIRT773292	hsa-miR-3941	CLIP-seq
MIRT2169010	hsa-miR-3972	CLIP-seq
MIRT773294	hsa-miR-410	CLIP-seq
MIRT2169011	hsa-miR-421	CLIP-seq
MIRT2169012	hsa-miR-422a	CLIP-seq
MIRT2169013	hsa-miR-4262	CLIP-seq
MIRT2169014	hsa-miR-4272	CLIP-seq
MIRT2169015	hsa-miR-4275	CLIP-seq
MIRT773295	hsa-miR-4282	CLIP-seq
MIRT2169016	hsa-miR-4328	CLIP-seq
MIRT773297	hsa-miR-4427	CLIP-seq
MIRT773298	hsa-miR-4432	CLIP-seq
MIRT773299	hsa-miR-4458	CLIP-seq
MIRT773300	hsa-miR-4463	CLIP-seq
MIRT2169017	hsa-miR-4465	CLIP-seq
MIRT2169018	hsa-miR-4468	CLIP-seq
MIRT2169019	hsa-miR-4477a	CLIP-seq
MIRT773303	hsa-miR-4500	CLIP-seq
MIRT2169020	hsa-miR-4515	CLIP-seq
MIRT2169021	hsa-miR-4519	CLIP-seq
MIRT773304	hsa-miR-4528	CLIP-seq
MIRT773306	hsa-miR-4652-3p	CLIP-seq
MIRT773307	hsa-miR-4653-3p	CLIP-seq
MIRT773309	hsa-miR-466	CLIP-seq
MIRT2169022	hsa-miR-4668-5p	CLIP-seq
MIRT773312	hsa-miR-4672	CLIP-seq
MIRT2169023	hsa-miR-4684-3p	CLIP-seq
MIRT773314	hsa-miR-4698	CLIP-seq
MIRT773315	hsa-miR-4699-3p	CLIP-seq
MIRT773316	hsa-miR-4705	CLIP-seq
MIRT773317	hsa-miR-4709-3p	CLIP-seq
MIRT2169024	hsa-miR-4720-3p	CLIP-seq
MIRT2169025	hsa-miR-4729	CLIP-seq
MIRT773319	hsa-miR-4731-3p	CLIP-seq
MIRT2169026	hsa-miR-4732-5p	CLIP-seq
MIRT773320	hsa-miR-4738-3p	CLIP-seq
MIRT773321	hsa-miR-4740-5p	CLIP-seq
MIRT1928251	hsa-miR-4762-3p	CLIP-seq
MIRT1928252	hsa-miR-4773	CLIP-seq
MIRT2169027	hsa-miR-4776-3p	CLIP-seq
MIRT2169028	hsa-miR-4777-5p	CLIP-seq
MIRT773322	hsa-miR-4801	CLIP-seq
MIRT773323	hsa-miR-4802-5p	CLIP-seq
MIRT2169029	hsa-miR-4804-3p	CLIP-seq
MIRT773324	hsa-miR-483-3p	CLIP-seq
MIRT773326	hsa-miR-490-3p	CLIP-seq
MIRT773327	hsa-miR-494	CLIP-seq
MIRT2169030	hsa-miR-498	CLIP-seq
MIRT2169031	hsa-miR-499-3p	CLIP-seq
MIRT773328	hsa-miR-499-5p	CLIP-seq
MIRT2169032	hsa-miR-499a-3p	CLIP-seq
MIRT773329	hsa-miR-505	CLIP-seq
MIRT2169033	hsa-miR-5096	CLIP-seq
MIRT2169034	hsa-miR-518d-5p	CLIP-seq
MIRT2169035	hsa-miR-519b-5p	CLIP-seq
MIRT2169036	hsa-miR-519c-5p	CLIP-seq
MIRT2169037	hsa-miR-520c-5p	CLIP-seq
MIRT773334	hsa-miR-520d-5p	CLIP-seq
MIRT773337	hsa-miR-524-5p	CLIP-seq
MIRT2169038	hsa-miR-526a	CLIP-seq
MIRT1928254	hsa-miR-543	CLIP-seq
MIRT773338	hsa-miR-548c-3p	CLIP-seq
MIRT2169039	hsa-miR-548k	CLIP-seq
MIRT2169040	hsa-miR-548n	CLIP-seq
MIRT2169041	hsa-miR-548u	CLIP-seq
MIRT2169042	hsa-miR-577	CLIP-seq
MIRT773340	hsa-miR-579	CLIP-seq
MIRT2169043	hsa-miR-587	CLIP-seq
MIRT773341	hsa-miR-601	CLIP-seq
MIRT1928255	hsa-miR-603	CLIP-seq
MIRT2169044	hsa-miR-625	CLIP-seq
MIRT773344	hsa-miR-628-3p	CLIP-seq
MIRT1928256	hsa-miR-633	CLIP-seq
MIRT2169045	hsa-miR-641	CLIP-seq
MIRT773345	hsa-miR-646	CLIP-seq
MIRT773346	hsa-miR-649	CLIP-seq
MIRT2169046	hsa-miR-661	CLIP-seq
MIRT773347	hsa-miR-664	CLIP-seq
MIRT773348	hsa-miR-758	CLIP-seq
MIRT2169047	hsa-miR-885-3p	CLIP-seq
MIRT773349	hsa-miR-885-5p	CLIP-seq
MIRT773350	hsa-miR-890	CLIP-seq
MIRT2169048	hsa-miR-92a	CLIP-seq
MIRT2169049	hsa-miR-92b	CLIP-seq
MIRT2169050	hsa-miR-944	CLIP-seq
MIRT773352	hsa-miR-98	CLIP-seq
MIRT773262	hsa-miR-1237	CLIP-seq
MIRT773276	hsa-miR-3182	CLIP-seq
MIRT773306	hsa-miR-4652-3p	CLIP-seq
MIRT773307	hsa-miR-4653-3p	CLIP-seq
MIRT773317	hsa-miR-4709-3p	CLIP-seq
MIRT773323	hsa-miR-4802-5p	CLIP-seq
MIRT773324	hsa-miR-483-3p	CLIP-seq
MIRT773338	hsa-miR-548c-3p	CLIP-seq
MIRT2426105	hsa-miR-150	CLIP-seq
MIRT2426106	hsa-miR-4639-3p	CLIP-seq
MIRT2426107	hsa-miR-4713-5p	CLIP-seq
MIRT2426108	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	17098863
GO:0000776	Component	Kinetochore	IEA
GO:0000785	Component	Chromatin	IDA	17098863
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IDA	17098863
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	IEA
GO:0005643	Component	Nuclear pore	IDA	17098863
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0015031	Process	Protein transport	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0031080	Component	Nuclear pore outer ring	IDA	17098863
GO:0031965	Component	Nuclear membrane	IDA
GO:0032465	Process	Regulation of cytokinesis	IMP	17098863
GO:0051028	Process	MRNA transport	IEA
GO:0051292	Process	Nuclear pore complex assembly	IMP	17098863
GO:0051301	Process	Cell division	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 610853
• HGNC: 24618
• e!Ensembl: ENSG00000153207

Protein

• UniProt ID: Q8WYP5
• Protein name: Protein ELYS (Embryonic large molecule derived from yolk sac) (Protein MEL-28) (Putative AT-hook-containing transcription factor 1)
• Protein function: Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also
• PDB: 7R5J , 7R5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13934	ELYS	722 → 945	Nuclear pore complex assembly	Family
  PF16687	ELYS-bb	1 → 489	beta-propeller of ELYS nucleoporin	Domain

• Sequence:

  MRDLRAQVTSGLLPFPEVTLQALGEDEITLESVLRGKFAAGKNGLACLACGPQLEVVNSI
  TGERLSAYRFSGVNEQPPVVLAVKEFSWQKRTGLLIGLEETEGSVLCLYDLGISKVVKAV
  VLPGRVTAIEPIINHGGASASTQHLHPSLRWLFGVAAVVTDVGQILLVDLCLDDLSCNQN
  EVEASDLEVLTGIPAEVPHIRESVMRQGRHLCFQLVSPTGTAVSTLSYISRTNQLAVGFS
  DGYLALWNMKSMKREYYIQLESGQVPVYAVTFQEPENDPRNCCYLWAVQSTQDSEGDVLS
  LHLLQLAFGNRKCLASGQILYEGLEYCEERYTLDLTGGMFPLRGQTSNTKLLGCQSIEKF
  RSHGDREEGVNEALSPDTSVSVFTWQVNIYGQGKPSVYLGLFDINRWYHAQMPDSLRSGE
  YLHNCSYFALWSLESVVSRTSPHGILDILVHERSLNRGVPPSYPPPEQFFNPSTYNFDAT
  CLLNSGVVHLTCTGFQKETLTFLKKSGPSLNELIPDGYNRCLVAGLLSPRFVDVQPSSLS
  QEEQLEAILSAAIQTSSLGLLTGYIRRWITEEQPNSATNLRFVLEWTWNKVVLTKEEFDR
  LCVPLFDGSCHFMDPQTIQSIQQCYLLLSNLNIVLSCFASEAREITERGLIDLSNKFVVS
  HLICQYAQVVLWFSHSGLLPEGIDDSVQLSRLCYNYPVIQNYYTSRRQKFERLSRGKWNP
  DCLMIDGLVSQLGERIEKLWKRDEGGTGKYPPASLHAVLDMYLLDGVTEAAKHSITIYLL
  LDIMYSFPNKTDTPIESFPTVFAISWGQVKLIQGFWLIDHNDYESGLDLLFHPATAKPLS
  WQHSKIIQAFMSQGEHRQALRYIQTMKPTVSSGNDVILHLTVLLFNRCMVEAWNFLRQHC
  NRLNIEELLKHMYEVCQEMGLMEDLLKLPFTDTEQECLVKFLQSSASVQNHEFLLVHHLQ
  RANYVPALKLNQTLKINVMNDRDPRLRERSLARNSILDQYGKILPRVHRKLAIERAKPYH
  LSTSSVFRLVSRPKPLSAVPKQVVTGTVLTRSVFINNVLSKIGEVWASKEPINSTTPFNS
  SKIEEPSPIVYSLPAPELPEAFFGTPISKASQKISRLLDLVVQPVPRPSQCSEFIQQSSM
  KSPLYLVSRSLPSSSQLKGSPQAISRASELHLLETPLVVKKAKSLAMSVTTSGFSEFTPQ
  SILRSTLRSTPLASPSPSPGRSPQRLKETRISFVEEDVHPKWIPGAADDSKLEVFTTPKK
  CAVPVETEWLKSKDRTTSFFLNSPEKEHQEMDEGSQSLEKLDVSKGNSSVSITSDETTLE
  YQDAPSPEDLEETVFTASKPKSSSTALTTNVTEQTEKDGDKDVFASEVTPSDLQKQMGNL
  EDAETKDLLVAAEAFSELNHLSPVQGTEASLCAPSVYEGKIFTQKSKVPVLDEGLTSVET
  YTPAIRANDNKSMADVLGDGGNSSLTISEGPIVSERRLNQEVALNLKEDHEVEVGVLKES
  VDLPEEKLPISDSPPDTQEIHVIEQEKLEAQDSGEEARNLSFNELYPSGTLKLQYNFDTI
  DQQFCDLADNKDTAECDIAEVDGELFVAQSNFTLILEGEEGEVEPGDFASSDVLPKAANT
  ATEEKLVCSGENDNHGQIANLPSAVTSDQKSQKVDTLPYVPEPIKVAIAENLLDVIKDTR
  SKEITSDTMEQSIHETIPLVSQNIMCPTKLVKSAFKTAQETSTMTMNVSQVDDVVSSKTR
  TRGQRIQNVNVKSAQQEASADVATPKMPGQSVRKKTRKAKEISEASENIYSDVRGLSQNQ
  QIPQNSVTPRRGRRKKEVNQDILENTSSVEQELQITTGRESKRLKSSQLLEPAVEETTKK
  EVKVSSVTKRTPRRIKRSVENQESVEIINDLKVSTVTSPSRMIRKLRSTNLDASENTGNK
  QDDKSSDKQLRIKHVRRVRGREVSPSDVREDSNLESSQLTVQAEFDMSAIPRKRGRPRKI
  NPSEDVGSKAVKEERSPKKKEAPSIRRRSTRNTPAKSENVDVGKPALGKSILVPNEELSM
  VMSSKKKLTKKTESQSQKRSLHSVSEERTDEMTHKETNEQEERLLATASFTKSSRSSRTR
  SSKAILLPDLSEPNNEPLFSPASEVPRKAKAKKIEVPAQLKELVSDLSSQFVISPPALRS
  RQKNTSNKNKLEDELKDDAQSVETLGKPKAKRIRTSKTKQASKNTEKESAWSPPPIEIRL
  ISPLASPADGVKSKPRKTTEVTGTGLGRNRKKLSSYPKQILRRKML

• Sequence length: 2266

Pathways

KEGG Pathway	Reactome Pathway
Nucleocytoplasmic transport	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
	Separation of Sister Chromatids
	Resolution of Sister Chromatid Cohesion
	RHO GTPases Activate Formins
	Mitotic Prometaphase
	Postmitotic nuclear pore complex (NPC) reformation
	EML4 and NUDC in mitotic spindle formation

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 Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed speech and language development	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PMF1-BGLAP 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids. NUDC 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids. ZWINT 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids. PMF1 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids. SPC24 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PMF1-BGLAP	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
NUDC	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
ZWINT	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
PMF1	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
SPC24	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]

Diseases Linked via Similar Genes

Breast cancer Linked via 2 of 5 related genesPMF1-BGLAP, PMF1 Clear cell renal cell carcinoma Linked via 2 of 5 related genesPMF1-BGLAP, PMF1 Intracerebral hemorrhage Linked via 2 of 5 related genesPMF1-BGLAP, PMF1 Kidney cancer Linked via 2 of 5 related genesPMF1-BGLAP, PMF1 Myeloproliferative disorder Linked via 2 of 5 related genesPMF1-BGLAP, PMF1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast cancer	2	["PMF1-BGLAP","PMF1"]
Clear cell renal cell carcinoma	2	["PMF1-BGLAP","PMF1"]
Intracerebral hemorrhage	2	["PMF1-BGLAP","PMF1"]
Kidney cancer	2	["PMF1-BGLAP","PMF1"]
Myeloproliferative disorder	2	["PMF1-BGLAP","PMF1"]