ZPR1 (ZPR1 zinc finger)

Gene

• Entrez ID: 8882
• Gene name: ZPR1 zinc finger
• Gene symbol: ZPR1
• Synonyms: 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 neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	ISS
GO:0001833	Process	Inner cell mass cell proliferation	IEA
GO:0001834	Process	Trophectodermal cell proliferation	ISS
GO:0005515	Function	Protein binding	IPI	11283611
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	9852145, 11283611
GO:0005654	Component	Nucleoplasm	IDA	17068332
GO:0005730	Component	Nucleolus	IDA	9763455, 9852145
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	9763455, 9852145, 11283611, 17068332
GO:0006397	Process	MRNA processing	IEA
GO:0007165	Process	Signal transduction	TAS	8650580
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IBA	21873635
GO:0008380	Process	RNA splicing	IEA
GO:0010628	Process	Positive regulation of gene expression	IBA	21873635
GO:0010628	Process	Positive regulation of gene expression	IMP	22422766
GO:0015030	Component	Cajal body	IBA	21873635
GO:0015030	Component	Cajal body	IDA	11283611, 17068332, 22422766
GO:0021510	Process	Spinal cord development	ISS
GO:0030424	Component	Axon	IBA	21873635
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	ISS
GO:0030576	Process	Cajal body organization	IBA	21873635
GO:0030576	Process	Cajal body organization	IMP	17068332
GO:0030576	Process	Cajal body organization	ISS
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0031369	Function	Translation initiation factor binding	IBA	21873635
GO:0031369	Function	Translation initiation factor binding	IPI	9852145
GO:0031641	Process	Regulation of myelination	ISS
GO:0033120	Process	Positive regulation of RNA splicing	IMP	11283611
GO:0042023	Process	DNA endoreduplication	ISS
GO:0042307	Process	Positive regulation of protein import into nucleus	IBA	21873635
GO:0042307	Process	Positive regulation of protein import into nucleus	IDA	11283611
GO:0043025	Component	Neuronal cell body	ISS
GO:0043204	Component	Perikaryon	ISS
GO:0045927	Process	Positive regulation of growth	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0061564	Process	Axon development	IBA	21873635
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:0071931	Process	Positive regulation of transcription involved in G1/S transition of mitotic cell cycle	IMP	17068332
GO:0097504	Component	Gemini of coiled bodies	IDA	11283611, 17068332, 22422766
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	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. Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death.
• 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

• Sequence:

  MAASGAVEPGPPGAAVAPSPAPAPPPAPDHLFRPISAEDEEQQPTEIESLCMNCYCNGMT
  RLLLTKIPFFREIIVSSFSCEHCGWNNTEIQSAGRIQDQGVRYTLSVRALEDMNREVVKT
  DSAATRIPELDFEIPAFSQKGALTTVEGLITRAISGLEQDQPARRANKDATAERIDEFIV
  KLKELKQVASPFTLIIDDPSGNSFVENPHAPQKDDALVITHYNRTRQQEEMLGLQEEAPA
  EKPEEEDLRNEVLQFSTNCPECNAPAQTNMKLVQIPHFKEVIIMATNCENCGHRTNEVKS
  GGAVEPLGTRITLHITDASDMTRDLLKSETCSVEIPELEFELGMAVLGGKFTTLEGLLKD
  IRELVTKNPFTLGDSSNPGQTERLQEFSQKMDQIIEGNMKAHFIMDDPAGNSYLQNVYAP
  EDDPEMKVERYKRTFDQNEELGLNDMKTEGYEAGLAPQR

• Sequence length: 459

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs-1, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	27790247
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs-1, rs770372675	27790247
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Coronary heart disease	Coronary heart disease	rs-1	27790247, 21347282, 21378990, 24262325
Diabetes	Diabetes	rs80356611	27790247
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	21386085, 30382898, 22399527

Unknown
Disease name	Disease term	dbSNP ID	References
Heart failure	Heart failure	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	27790247
Cardiovascular diseases	Cardiovascular Diseases		30595370
Malignant neoplasm	Malignant Neoplasms		27790247
Stroke	Cerebrovascular accident		27790247