ZPR1 (ZPR1 zinc finger)

Gene

• Entrez ID: 8882
• Gene name: ZPR1 zinc finger
• Gene symbol: ZPR1
• Synonyms (NCBI Gene): GKAF, ZNF259
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neur

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT650677	hsa-miR-4705	HITS-CLIP	23824327
MIRT650676	hsa-miR-4719	HITS-CLIP	23824327
MIRT650675	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT650674	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT650673	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT650672	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT741975	hsa-miR-4705	HITS-CLIP	23824327
MIRT741976	hsa-miR-4719	HITS-CLIP	23824327
MIRT741977	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT741978	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT741979	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT741980	hsa-miR-3692-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	ISS
GO:0001833	Process	Inner cell mass cell proliferation	IEA
GO:0001834	Process	Trophectodermal cell proliferation	IEA
GO:0001834	Process	Trophectodermal cell proliferation	ISS
GO:0005515	Function	Protein binding	IPI	11283611
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9852145, 11283611
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8650580
GO:0005654	Component	Nucleoplasm	IDA	17068332
GO:0005730	Component	Nucleolus	IDA	9763455, 9852145
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9763455, 9852145, 11283611, 17068332
GO:0005737	Component	Cytoplasm	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	17068332
GO:0006397	Process	MRNA processing	IEA
GO:0006457	Process	Protein folding	ISS
GO:0007165	Process	Signal transduction	TAS	8650580
GO:0008270	Function	Zinc ion binding	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010628	Process	Positive regulation of gene expression	IBA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	22422766
GO:0015030	Component	Cajal body	IBA
GO:0015030	Component	Cajal body	IDA	11283611, 17068332, 22422766
GO:0015030	Component	Cajal body	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021510	Process	Spinal cord development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030576	Process	Cajal body organization	IBA
GO:0030576	Process	Cajal body organization	IEA
GO:0030576	Process	Cajal body organization	ISS
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0031369	Function	Translation initiation factor binding	IBA
GO:0031369	Function	Translation initiation factor binding	IEA
GO:0031369	Function	Translation initiation factor binding	IPI	9852145
GO:0031641	Process	Regulation of myelination	IEA
GO:0031641	Process	Regulation of myelination	ISS
GO:0033120	Process	Positive regulation of RNA splicing	IMP	11283611
GO:0042023	Process	DNA endoreduplication	IEA
GO:0042023	Process	DNA endoreduplication	ISS
GO:0042307	Process	Positive regulation of protein import into nucleus	IBA
GO:0042307	Process	Positive regulation of protein import into nucleus	IDA	11283611
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0044183	Function	Protein folding chaperone	ISS
GO:0045787	Process	Positive regulation of cell cycle	IMP	29851065
GO:0045927	Process	Positive regulation of growth	IEA
GO:0045927	Process	Positive regulation of growth	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0061564	Process	Axon development	IBA
GO:0061564	Process	Axon development	IEA
GO:0061564	Process	Axon development	IMP	22422766
GO:0061564	Process	Axon development	ISS
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IDA	9852145
GO:0097504	Component	Gemini of Cajal bodies	IDA	11283611, 17068332, 22422766
GO:0097504	Component	Gemini of Cajal bodies	IEA
GO:1902742	Process	Apoptotic process involved in development	IEA
GO:1902742	Process	Apoptotic process involved in development	ISS
GO:1990261	Process	Pre-mRNA catabolic process	IMP	11283611
GO:2000672	Process	Negative regulation of motor neuron apoptotic process	IEA
GO:2000672	Process	Negative regulation of motor neuron apoptotic process	ISS

Other IDs

• MIM: 603901
• HGNC: 13051
• e!Ensembl: ENSG00000109917

Protein

• UniProt ID: O75312
• Protein name: Zinc finger protein ZPR1 (Zinc finger protein 259)
• Protein function: Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. It is involved in the positive regulation of cell cycle progression (PubMed:29851065). Plays a role for the localization and accumulat
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03367	zf-ZPR1	49 → 206	ZPR1 zinc-finger domain	Family
  PF03367	zf-ZPR1	257 → 415	ZPR1 zinc-finger domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fibroblast; weakly expressed in fibroblast of spinal muscular atrophy (SMA) patients. {ECO:0000269|PubMed:22422766}.
• Sequence:

  MAASGAVEPGPPGAAVAPSPAPAPPPAPDHLFRPISAEDEEQQPTEIESLCMNCYCNGMT
  RLLLTKIPFFREIIVSSFSCEHCGWNNTEIQSAGRIQDQGVRYTLSVRALEDMNREVVKT
  DSAATRIPELDFEIPAFSQKGALTTVEGLITRAISGLEQDQPARRANKDATAERIDEFIV
  KLKELKQVASPFTLIIDDPSGNSFVENPHAPQKDDALVITHYNRTRQQEEMLGLQEEAPA
  EKPEEEDLRNEVLQFSTNCPECNAPAQTNMKLVQIPHFKEVIIMATNCENCGHRTNEVKS
  GGAVEPLGTRITLHITDASDMTRDLLKSETCSVEIPELEFELGMAVLGGKFTTLEGLLKD
  IRELVTKNPFTLGDSSNPGQTERLQEFSQKMDQIIEGNMKAHFIMDDPAGNSYLQNVYAP
  EDDPEMKVERYKRTFDQNEELGLNDMKTEGYEAGLAPQR

• Sequence length: 459

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	Pathogenic	rs368697578	RCV001391184	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	29851065		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis 4 Juvenile	Amyotrophic lateral sclerosis	Pubtator	35045161	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31670185		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	30214308		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39527598	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29276408		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	29851065		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26397108, 29339699, 30902787		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26397108, 27257688, 29339699, 30902787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	27257688, 28257648	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	25502724, 29339699	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282, 21378990		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	21378990, 24262325, 27790247		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25502724, 26397108, 29339699, 30902787		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27411854, 32600448	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27411854		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	20160193, 21889769, 22840581, 27257688	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30631647		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	BEFREE	24780069		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	24780069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	Pubtator	38044203	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32600448	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	33567543, 36077235	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	24780069		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30214308		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29276408		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24623848		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	24618354, 24979386, 27827461, 31910446, 33986338, 38201907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	21386085, 22399527, 30382898		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	21386085, 22399527		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24618354, 27827461, 31544728		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	19430205, 35045161	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29276408		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31662442	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	24623848		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24623848	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28811488		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	11283611, 19430205, 22422766, 28811488, 31828288		★☆☆☆☆ Found in Text Mining only