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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5422
Gene name Gene Name - the full gene name approved by the HGNC.	DNA polymerase alpha 1, catalytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POLA1
Synonyms (NCBI Gene) Gene synonyms aliases	NSX, PDR, POLA, VEODS, p180
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PDR, VEODS
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.11-p21.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs774419889	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs869312979	A>G	Pathogenic	Intron variant
rs1569271378	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs1569271892	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1569277866	AAAGCTGTAGACTTGTCCAAGGATGGTCTGCTAGGTGACATTCTACAGGATCTTAACACTGAG>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant
rs1569277899	G>A	Pathogenic	Splice donor variant
rs1569350993	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant

Show/Hide all(43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016282	hsa-miR-193b-3p	Microarray	20304954
MIRT022295	hsa-miR-124-3p	Microarray	18668037
MIRT028969	hsa-miR-26b-5p	Microarray	19088304
MIRT717111	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT717110	hsa-miR-6885-3p	HITS-CLIP	19536157
MIRT717111	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT717110	hsa-miR-6885-3p	HITS-CLIP	19536157
MIRT1247157	hsa-miR-1287	CLIP-seq
MIRT1247158	hsa-miR-1296	CLIP-seq
MIRT1247159	hsa-miR-2909	CLIP-seq
MIRT1247160	hsa-miR-3135b	CLIP-seq
MIRT1247161	hsa-miR-3612	CLIP-seq
MIRT1247162	hsa-miR-4443	CLIP-seq
MIRT1247163	hsa-miR-4512	CLIP-seq
MIRT1247164	hsa-miR-4640-5p	CLIP-seq
MIRT1247165	hsa-miR-4726-5p	CLIP-seq
MIRT1247166	hsa-miR-650	CLIP-seq
MIRT1247167	hsa-miR-759	CLIP-seq
MIRT1247168	hsa-miR-765	CLIP-seq
MIRT2300090	hsa-miR-181a	CLIP-seq
MIRT2300091	hsa-miR-181b	CLIP-seq
MIRT2300092	hsa-miR-181c	CLIP-seq
MIRT2300093	hsa-miR-181d	CLIP-seq
MIRT2300094	hsa-miR-3618	CLIP-seq
MIRT2300095	hsa-miR-3663-5p	CLIP-seq
MIRT2300096	hsa-miR-377	CLIP-seq
MIRT2300097	hsa-miR-4262	CLIP-seq
MIRT2300098	hsa-miR-601	CLIP-seq
MIRT2392803	hsa-miR-3921	CLIP-seq
MIRT2392804	hsa-miR-4251	CLIP-seq
MIRT2392805	hsa-miR-4329	CLIP-seq
MIRT2392806	hsa-miR-4653-5p	CLIP-seq
MIRT2392807	hsa-miR-760	CLIP-seq
MIRT2456815	hsa-miR-1267	CLIP-seq
MIRT2456816	hsa-miR-1269	CLIP-seq
MIRT2456817	hsa-miR-1269b	CLIP-seq
MIRT2456818	hsa-miR-4529-3p	CLIP-seq
MIRT2456819	hsa-miR-4711-3p	CLIP-seq
MIRT2456815	hsa-miR-1267	CLIP-seq
MIRT2456816	hsa-miR-1269	CLIP-seq
MIRT2456817	hsa-miR-1269b	CLIP-seq
MIRT2456818	hsa-miR-4529-3p	CLIP-seq
MIRT2456819	hsa-miR-4711-3p	CLIP-seq

Show/Hide all(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	TAS
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS
GO:0000166	Function	Nucleotide binding	IDA	3139084
GO:0000731	Process	DNA synthesis involved in DNA repair	IMP	11470886
GO:0000785	Component	Chromatin	IDA	9815285
GO:0003677	Function	DNA binding	IDA	16762037
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0003682	Function	Chromatin binding	IDA	16762037
GO:0003688	Function	DNA replication origin binding	IBA	21873635
GO:0003697	Function	Single-stranded DNA binding	IBA	21873635
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA	21873635
GO:0003887	Function	DNA-directed DNA polymerase activity	IDA	893425, 3359994, 8026492
GO:0003887	Function	DNA-directed DNA polymerase activity	IMP	4084590
GO:0005515	Function	Protein binding	IPI	1311258, 2243771, 7644508, 8380896, 9395244, 9518481, 10518787, 10869558, 10873756, 16438930, 17666013
GO:0005634	Component	Nucleus	IDA	4084590, 16762037
GO:0005635	Component	Nuclear envelope	IDA	9518481
GO:0005654	Component	Nucleoplasm	IDA	7045121
GO:0005654	Component	Nucleoplasm	TAS
GO:0005658	Component	Alpha DNA polymerase:primase complex	IBA	21873635
GO:0005658	Component	Alpha DNA polymerase:primase complex	IDA	2175912, 8026492, 22465957
GO:0005658	Component	Alpha DNA polymerase:primase complex	TAS	2243771
GO:0005730	Component	Nucleolus	IDA	9518481
GO:0005829	Component	Cytosol	IDA	27019227
GO:0006260	Process	DNA replication	IMP	3917431, 4084590, 16762037, 31006512
GO:0006269	Process	DNA replication, synthesis of RNA primer	IDA	2175912, 8026492, 27019227
GO:0006270	Process	DNA replication initiation	IDA	2175912
GO:0006270	Process	DNA replication initiation	TAS
GO:0006271	Process	DNA strand elongation involved in DNA replication	IMP	4084590
GO:0006272	Process	Leading strand elongation	IBA	21873635
GO:0006272	Process	Leading strand elongation	IDA	2175912, 7910375
GO:0006273	Process	Lagging strand elongation	IBA	21873635
GO:0006273	Process	Lagging strand elongation	IDA	2175912, 7910375
GO:0006281	Process	DNA repair	IDA	3335506
GO:0006281	Process	DNA repair	IMP	11470886
GO:0006289	Process	Nucleotide-excision repair	IMP	1508673
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	11470886
GO:0016032	Process	Viral process	IEA
GO:0016363	Component	Nuclear matrix	IDA	1903085
GO:0017076	Function	Purine nucleotide binding	IBA	21873635
GO:0019103	Function	Pyrimidine nucleotide binding	IBA	21873635
GO:0019901	Function	Protein kinase binding	IPI	9506968
GO:0032201	Process	Telomere maintenance via semi-conservative replication	TAS
GO:0032479	Process	Regulation of type I interferon production	IMP	27019227
GO:0046872	Function	Metal ion binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:1902975	Process	Mitotic DNA replication initiation	IBA	21873635
GO:1904161	Process	DNA synthesis involved in UV-damage excision repair	IMP	1730053

MIM	HGNC	e!Ensembl
312040	9173	ENSG00000101868

Protein

UniProt ID

P09884

Protein name

DNA polymerase alpha catalytic subunit (EC 2.7.7.7) (DNA polymerase alpha catalytic subunit p180)

Protein function

Catalytic subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha compl

PDB

1K0P , 1K18 , 1N5G , 4Q5V , 4QCL , 4Y97 , 5EXR , 5IUD , 6AS7 , 7N2M , 7OPL , 7U5C , 8B9D , 8D0B , 8D0K , 8D96 , 8D9D , 8QJ7 , 8VY3 , 9C8V , 9MJ5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12254	DNA_pol_alpha_N	35 → 96	DNA polymerase alpha subunit p180 N terminal	Family
PF03104	DNA_pol_B_exo1	369 → 711	DNA polymerase family B, exonuclease domain	Family
PF00136	DNA_pol_B	774 → 1227	DNA polymerase family B	Family
PF08996	zf-DNA_Pol	1265 → 1455	DNA Polymerase alpha zinc finger	Domain

Sequence

MAPVHGDDSLSDSGSFVSSRARREKKSKKGRQEALERLKKAKAGEKYKYEVEDFTGVYEE
VDEEQYSKLVQARQDDDWIVDDDGIGYVEDGREIFDDDLEDDALDADEKGKDGKARNKDK
RNVKKLAVTKPNNIKSMFIACAGKKTADKAVDLSKDGLLGDILQDLNTETPQITPPPVMI
LKKKRSIGASPNPFSVHTATAVPSGKIASPVSRKEPPLTPVPLKRAEFAGDDVQVESTEE
EQESGAMEFEDGDFDEPMEVEEVDLEPMAAKAWDKESEPAEEVKQEADSGKGTVSYLGSF
LPDVSCWDIDQEGDSSFSVQEVQVDSSHLPLVKGADEEQVFHFYWLDAYEDQYNQPGVVF
LFGKVWIESAETHVSCCVMVKNIERTLYFLPREMKIDLNTGKETGTPISMKDVYEEFDEK
IATKYKIMKFKSKPVEKNYAFEIPDVPEKSEYLEVKYSAEMPQLPQDLKGETFSHVFGTN
TSSLELFLMNRKIKGPCWLEVKSPQLLNQPVSWCKVEAMALKPDLVNVIKDVSPPPLVVM
AFSMKTMQNAKNHQNEIIAMAALVHHSFALDKAAPKPPFQSHFCVVSKPKDCIFPYAFKE
VIEKKNVKVEVAATERTLLGFFLAKVHKIDPDIIVGHNIYGFELEVLLQRINVCKAPHWS
KIGRLKRSNMPKLGGRSGFGERNATCGRMICDVEISAKELIRCKSYHLSELVQQILKTER
VVIPMENIQNMYSESSQLLYLLEHTWKDAKFILQIMCELNVLPLALQITNIAGNIMSRTL
MGGRSERNEFLLLHAFYENNYIVPDKQIFRKPQQKLGDEDEEIDGDTNKYKKGRKKAAYA
GGLVLDPKVGFYDKFILLLDFNSLYPSIIQEFNICFTTVQRVASEAQKVTEDGEQEQIPE
LPDPSLEMGILPREIRKLVERRKQVKQLMKQQDLNPDLILQYDIRQKALKLTANSMYGCL
GFSYSRFYAKPLAALVTYKGREILMHTKEMVQKMNLEVIYGDTDSIMINTNSTNLEEVFK
LGNKVKSEVNKLYKLLEIDIDGVFKSLLLLKKKKYAALVVEPTSDGNYVTKQELKGLDIV
RRDWCDLAKDTGNFVIGQILSDQSRDTIVENIQKRLIEIGENVLNGSVPVSQFEINKALT
KDPQDYPDKKSLPHVHVALWINSQGGRKVKAGDTVSYVICQDGSNLTASQRAYAPEQLQK
QDNLTIDTQYYLAQQIHPVVARICEPIDGIDAVLIATWLGLDPTQFRVHHYHKDEENDAL
LGGPAQLTDEEKYRDCERFKCPCPTCGTENIYDNVFDGSGTDMEPSLYRCSNIDCKASPL
TFTVQLSNKLIMDIRRFIKKYYDGWLICEEPTCRNRTRHLPLQFSRTGPLCPACMKATLQ
PEYSDKSLYTQLCFYRYIFDAECALEKLTTDHEKDKLKKQFFTPKVLQDYRKLKNTAEQF
LSRSGYSEVNLSKLFAGCAVKS

Sequence length

1462

Interactions

View interactions

	KEGG		Reactome
	DNA replication		Inhibition of replication initiation of damaged DNA by RB1/E2F1 Polymerase switching on the C-strand of the telomere Telomere C-strand synthesis initiation DNA replication initiation Activation of the pre-replicative complex Polymerase switching Removal of the Flap Intermediate Processive synthesis on the lagging strand G1/S-Specific Transcription

Show/Hide Causal Diseases (11)

Disease term	Disease name	dbSNP ID	References
Causal
Amyloidosis	Amyloidosis	rs63750567, rs63750560, rs387906821, rs387906822, rs387906823, rs1561123748, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Autoinflammatory disease	Autoinflammatory disorder	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587 View all (32 more)	27019227
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Mental retardation, x-linked	X-linked intellectual disability, Van Esch type	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352 View all (405 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Reticulate pigmentary disorder, x-linked	X-linked reticulate pigmentary disorder	rs869312979
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Partington syndrome	PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	27019227	ClinVar
Insomnia	Insomnia		GWAS

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining
Acidemia isovaleric	Associate	20519759
Carcinoma Hepatocellular	Associate	33188160
Carcinoma Non Small Cell Lung	Associate	32161100
Carcinoma Squamous Cell	Associate	37746664
Colorectal Neoplasms	Associate	1558798, 2328204, 32161100
COVID 19	Associate	34719824
Embryo Loss	Associate	36182037
Endometrial Neoplasms	Associate	1575057, 2470714
Ermine phenotype	Associate	36182037
Glioblastoma	Stimulate	37762371
Glioma	Associate	37349788
Hereditary Autoinflammatory Diseases	Associate	27019227, 31672938
Immune Dysregulation Polyendocrinopathy Enteropathy X Linked Syndrome	Associate	33864888
Leukemia	Inhibit	1696013
Leukemia	Associate	2514170, 8144401
Mental Retardation X Linked	Associate	36182037
Myositis	Associate	2765363
Neoplasm Metastasis	Associate	1558798, 2328204
Neoplasms	Associate	11891323, 1558798
Neuroblastoma	Associate	3146694, 6951191, 9348340
Osteosarcoma	Associate	2188094
Parkinson Disease	Associate	40240887
Pigmentary Disorder Reticulate with Systemic Manifestations	Associate	27019227, 31672938, 36182037
Rectal Neoplasms	Associate	25380052
Retinoblastoma	Associate	34646884
Stomach Neoplasms	Associate	2765363, 35036435
Urinary Bladder Neoplasms	Associate	28320388
Uterine Cervical Neoplasms	Associate	37746664
Virus Diseases	Associate	34719824
Xeroderma Pigmentosum	Associate	866172

POLA1 (DNA polymerase alpha 1, catalytic subunit)