MCM3AP (minichromosome maintenance complex component 3 associated protein)

Gene

• Entrez ID: 8888
• Gene name: Minichromosome maintenance complex component 3 associated protein
• Gene symbol: MCM3AP
• Synonyms: GANP, MAP80, PNRIID, SAC3
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs373674344	C>T	Pathogenic	Missense variant, coding sequence variant
rs483352869	C>T	Pathogenic	Missense variant, coding sequence variant
rs779248881	C>T	Pathogenic	Missense variant, coding sequence variant
rs1218260846	CGCAGCAGGG>-,CGCAGCAGGGCGCAGCAGGG	Pathogenic	Coding sequence variant, frameshift variant
rs1569072024	A>G	Pathogenic	Missense variant, coding sequence variant
rs1569073058	G>T	Pathogenic	Stop gained, coding sequence variant
rs1569074977	A>G	Pathogenic	Missense variant, coding sequence variant
rs1569074992	G>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052573	hsa-let-7a-5p	CLASH	23622248
MIRT050147	hsa-miR-26a-5p	CLASH	23622248
MIRT046814	hsa-miR-222-3p	CLASH	23622248
MIRT042228	hsa-miR-484	CLASH	23622248
MIRT039880	hsa-miR-615-3p	CLASH	23622248
MIRT039880	hsa-miR-615-3p	CLASH	23622248
MIRT052817	hsa-miR-3200-3p	CLASH	23622248
MIRT440266	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440266	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1137666	hsa-miR-148a	CLIP-seq
MIRT1137667	hsa-miR-148b	CLIP-seq
MIRT1137668	hsa-miR-152	CLIP-seq
MIRT1137669	hsa-miR-23a	CLIP-seq
MIRT1137670	hsa-miR-23b	CLIP-seq
MIRT1137671	hsa-miR-23c	CLIP-seq
MIRT1137672	hsa-miR-299-5p	CLIP-seq
MIRT1137673	hsa-miR-3200-5p	CLIP-seq
MIRT1137674	hsa-miR-34b	CLIP-seq
MIRT1137675	hsa-miR-4251	CLIP-seq
MIRT1137676	hsa-miR-4329	CLIP-seq
MIRT1137677	hsa-miR-4686	CLIP-seq
MIRT1137678	hsa-miR-4709-5p	CLIP-seq
MIRT1137679	hsa-miR-4711-5p	CLIP-seq
MIRT1137680	hsa-miR-580	CLIP-seq
MIRT1137666	hsa-miR-148a	CLIP-seq
MIRT1137667	hsa-miR-148b	CLIP-seq
MIRT1137668	hsa-miR-152	CLIP-seq
MIRT1137669	hsa-miR-23a	CLIP-seq
MIRT1137670	hsa-miR-23b	CLIP-seq
MIRT1137671	hsa-miR-23c	CLIP-seq
MIRT2039105	hsa-miR-3143	CLIP-seq
MIRT1137673	hsa-miR-3200-5p	CLIP-seq
MIRT1137674	hsa-miR-34b	CLIP-seq
MIRT1137675	hsa-miR-4251	CLIP-seq
MIRT1137676	hsa-miR-4329	CLIP-seq
MIRT1137678	hsa-miR-4709-5p	CLIP-seq
MIRT1137679	hsa-miR-4711-5p	CLIP-seq
MIRT2039106	hsa-miR-543	CLIP-seq
MIRT1137680	hsa-miR-580	CLIP-seq
MIRT1137666	hsa-miR-148a	CLIP-seq
MIRT1137667	hsa-miR-148b	CLIP-seq
MIRT1137668	hsa-miR-152	CLIP-seq
MIRT2039105	hsa-miR-3143	CLIP-seq
MIRT1137673	hsa-miR-3200-5p	CLIP-seq
MIRT1137675	hsa-miR-4251	CLIP-seq
MIRT1137676	hsa-miR-4329	CLIP-seq
MIRT1137678	hsa-miR-4709-5p	CLIP-seq
MIRT1137679	hsa-miR-4711-5p	CLIP-seq
MIRT2039106	hsa-miR-543	CLIP-seq
MIRT1137680	hsa-miR-580	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003682	Function	Chromatin binding	IDA	23652018
GO:0004402	Function	Histone acetyltransferase activity	IDA	23652018
GO:0005515	Function	Protein binding	IPI	23591820, 23652018
GO:0005634	Component	Nucleus	HDA	16780588
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	HDA	16780588
GO:0005829	Component	Cytosol	IDA
GO:0006406	Process	MRNA export from nucleus	IBA	21873635
GO:0010484	Function	H3 histone acetyltransferase activity	IDA	23652018
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IDA	23652018
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IMP	23591820
GO:0031965	Component	Nuclear membrane	IDA
GO:0034728	Process	Nucleosome organization	IDA	23652018
GO:0042393	Function	Histone binding	IDA	23652018
GO:0043966	Process	Histone H3 acetylation	IEA
GO:0044615	Component	Nuclear pore nuclear basket	IDA	23591820
GO:0070390	Component	Transcription export complex 2	IBA	21873635
GO:0070390	Component	Transcription export complex 2	IDA	23591820

Other IDs

• MIM: 603294
• HGNC: 6946
• e!Ensembl: ENSG00000160294

Protein

• UniProt ID: O60318
• Protein name: Germinal-center associated nuclear protein (GANP) (EC 2.3.1.48) (80 kDa MCM3-associated protein) (MCM3 acetylating protein) (MCM3AP) (EC 2.3.1.-) (MCM3 acetyltransferase)
• Protein function: [Isoform GANP]: As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:22307388, PubMed:23591820). Through the acetylation of histones, affects t
• PDB: 4DHX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16768	NupH_GANP	2 → 291	Nucleoporin homology of Germinal-centre associated nuclear protein	Family
  PF03399	SAC3_GANP	635 → 929	SAC3/GANP family	Family
  PF16766	CID_GANP	1164 → 1234	Binding region of GANP to ENY2	Family
  PF16769	MCM3AP_GANP	1262 → 1976	MCM3AP domain of GANP	Family

• Sequence:

  MNPTNPFSGQQPSAFSASSSNVGTLPSKPPFRFGQPSLFGQNSTLSGKSSGFSQVSSFPA
  SSGVSHSSSVQTLGFTQTSSVGPFSGLEHTSTFVATSGPSSSSVLGNTGFSFKSPTSVGA
  FPSTSAFGQEAGEIVNSGFGKTEFSFKPLENAVFKPILGAESEPEKTQSQIASGFFTFSH
  PISSAPGGLAPFSFPQVTSSSATTSNFTFSKPVSSNNSLSAFTPALSNQNVEEEKRGPKS
  IFGSSNNSFSSFPVSSAVLGEPFQASKAGVRQGCEEAVSQVEPLPSLMKGLKRKEDQDRS
  PRRHGHEPAEDSDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQDVFKSNKEVGRLGNKEA
  KKETGFVESAESDHMAIPGGNQSVLAPSRIPGVNKEEETESREKKEDSLRGTPARQSNRS
  ESTDSLGGLSPSEVTAIQCKNIPDYLNDRTILENHFGKIAKVQRIFTRRSKKLAVVHFFD
  HASAALARKKGKSLHKDMAIFWHRKKISPNKKPFSLKEKKPGDGEVSPSTEDAPFQHSPL
  GKAAGRTGASSLLNKSSPVKKPSLLKAHQFEGDSFDSASEGSEGLGPCVLSLSTLIGTVA
  ETSKEKYRLLDQRDRIMRQARVKRTDLDKARTFVGTCLDMCPEKERYMRETRSQLSVFEV
  VPGTDQVDHAAAVKEYSRSSADQEEPLPHELRPLPVLSRTMDYLVTQIMDQKEGSLRDWY
  DFVWNRTRGIRKDITQQHLCDPLTVSLIEKCTRFHIHCAHFMCEEPMSSFDAKINNENMT
  KCLQSLKEMYQDLRNKGVFCASEAEFQGYNVLLSLNKGDILREVQQFHPAVRNSSEVKFA
  VQAFAALNSNNFVRFFKLVQSASYLNACLLHCYFSQIRKDALRALNFAYTVSTQRSTIFP
  LDGVVRMLLFRDCEEATDFLTCHGLTVSDGCVELNRSAFLEPEGLSKTRKSVFITRKLTV
  SVGEIVNGGPLPPVPRHTPVCSFNSQNKYIGESLAAELPVSTQRPGSDTVGGGRGEECGV
  EPDAPLSSLPQSLPAPAPSPVPLPPVLALTPSVAPSLFQLSVQPEPPPPEPVPMYSDEDL
  AQVVDELIQEALQRDCEEVGSAGAAYAAAALGVSNAAMEDLLTAATTGILRHIAAEEVSK
  ERERREQERQRAEEERLKQERELVLSELSQGLAVELMERVMMEFVRETCSQELKNAVETD
  QRVRVARCCEDVCAHLVDLFLVEEIFQTAKETLQELQCFCKYLQRWREAVTARKKLRRQM
  RAFPAAPCCVDVSDRLRALAPSAECPIAEENLARGLLDLGHAGRLGISCTRLRRLRNKTA
  HQMKVQHFYQQLLSDVAWASLDLPSLVAEHLPGRQEHVFWKLVLVLPDVEEQSPESCGRI
  LANWLKVKFMGDEGSVDDTSSDAGGIQTLSLFNSLSSKGDQMISVNVCIKVAHGALSDGA
  IDAVETQKDLLGASGLMLLLPPKMKSEDMAEEDVYWLSALLQLKQLLQAKPFQPALPLVV
  LVPSPGGDAVEKEVEDGLMLQDLVSAKLISDYTVTEIPDTINDLQGSTKVLQAVQWLVSH
  CPHSLDLCCQTLIQYVEDGIGHEFSGRFFHDRRERRLGGLASQEPGAIIELFNSVLQFLA
  SVVSSEQLCDLSWPVTEFAEAGGSRLLPHLHWNAPEHLAWLKQAVLGFQLPQMDLPPLGA
  PWLPVCSMVVQYASQIPSSRQTQPVLQSQVENLLHRTYCRWKSKSPSPVHGAGPSVMEIP
  WDDLIALCINHKLRDWTPPRLPVTSEALSEDGQICVYFFKNDLKKYDVPLSWEQARLQTQ
  KELQLREGRLAIKPFHPSANNFPIPLLHMHRNWKRSTECAQEGRIPSTEDLMRGASAEEL
  LAQCLSSSLLLEKEENKRFEDQLQQWLSEDSGAFTDLTSLPLYLPQTLVSLSHTIEPVMK
  TSVTTSPQSDMMREQLQLSEATGTCLGERLKHLERLIRSSREEEVASELHLSALLDMVDI
  

• Sequence length: 1980

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Periodontitis	Periodontitis	rs28937571, rs104894211, rs587777534	30218097
Peripheral neuropathy, with or without impaired intellectual development	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	rs483352869, rs1569086477, rs1569073058, rs1569074992, rs373674344, rs1569072024, rs1569074977	28633435, 24123876, 29982295, 28969388
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Motor delay	Clumsiness - motor delay
Periodontosis	Periodontosis		30218097
Peripheral axonal neuropathy	Peripheral axonal neuropathy	rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185
Premature menopause	Premature Menopause
Strabismus	Strabismus
Testicular neoplasms	Testicular Neoplasms		23666240
Testicular germ cell tumor	Testicular Germ Cell Tumor		23666240, 28604728