ZPR1 - ZPR1 zinc finger Gene

Also Known as GKAF; ZNF259

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8882

About ZPR1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:116,773,799-116,788,023 (from NCBI)

This gene has 9 transcripts (splice variants), 218 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 14.8), bone marrow (RPKM 9.9) and 25 other tissues.

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]

ZPR1 Products (2)

mRNA	Protein	Name
NM_001317086.2	NP_001304015.1	zinc finger protein ZPR1 isoform 2
NM_003904.5	NP_003895.1	zinc finger protein ZPR1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11283611	GOA
enables translation initiation factor binding	IPI IPI: Inferred from physical interaction	9852145	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within positive effect DNA replication	IMP IMP: Inferred from mutant phenotype	17068332	GOA
involved in axon development	IMP IMP: Inferred from mutant phenotype	22422766	GOA
involved in cellular response to epidermal growth factor stimulus	IDA IDA: Inferred from direct assay	9852145	GOA
involved in positive regulation of RNA splicing	IMP IMP: Inferred from mutant phenotype	11283611	GOA
involved in positive regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	29851065	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22422766	GOA
involved in positive regulation of protein import into nucleus	IDA IDA: Inferred from direct assay	11283611	GOA
involved in pre-mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	11283611	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Cajal body	IDA IDA: Inferred from direct assay	11283611	GOA
located in Gemini of coiled bodies	IDA IDA: Inferred from direct assay	11283611	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9763455	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	9763455	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	17068332	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9852145	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZPR1 Protein Structure

zf-ZPR1

0
100
200
300
400
459 a.a.

Protein Preferred Names	Protein Names
zinc finger protein ZPR1	zinc finger protein 259

ZPR1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P87149	ZPR1 Antibody (YA6842)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	GKAF
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Alopecia
Spinal Muscular Atrophy, Type Iii	SMA3 Juvenile Spinal Muscular Atrophy Kugelberg-Welander Disease Sma Iii Kugelberg-Welander Syndrome Kws Muscular Atrophy, Juvenile Spinal Muscular Atrophy, Mild Childhood And Adolescent Form Spinal Muscular Atrophy-3 Spinal Muscular Atrophy Type 3 Spinal Muscular Atrophy, Type Iii, Modifier Of Type Iii Spinal Muscular Atrophy Sma 3 Proximal Spinal Muscular Atrophy Type 3 Sma Type 3 Sma Type Iii Sma-Iii Spinal Muscular Atrophy 3 Spinal Muscular Atrophy Mild Childhood And Adolescent Form Spinal Muscular Atrophy Type Iii Wohlfart-Kugelberg-Welander Disease Atrophy, Muscular, Spinal, Type Iii
Childhood Spinal Muscular Atrophy	Spinal Muscular Atrophies Of Childhood Survival Motor Neuron Spinal Muscular Atrophy
Spinal Muscular Atrophy, Type I	Werdnig-Hoffmann Disease SMA1 Spinal Muscular Atrophy 1 Sma I Sma, Infantile Acute Form Muscular Atrophy, Infantile Spinal Muscular Atrophy-1 Hmn Proximal Type I Infantile Muscular Atrophy Proximal Spinal Muscular Atrophy Type 1 Sma Type 1 Sma Type I Sma-I Hereditary Motor Neuropathy Proximal Type I Progressive Muscular Atrophy Of Infancy Proximal Spinal Muscular Atrophy, Type 1 Werdnig Hoffmann Disease Infantile Spinal Muscular Atrophy Infantile-Onset Spinal Muscular Atrophy Proximal Hereditary Motor Neuropathy Type I Sma Infantile Acute Form Spinal Muscular Atrophy Type I Werdnig-Hoffman Disease Atrophy, Muscular, Spinal, Type 1
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16192	ZPR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ZPR1	MGD	MGI:1330262
Felis catus	ZPR1	VGNC	VGNC:67378
Macaca mulatta	ZPR1	VGNC	VGNC:107669
Bos taurus	ZPR1	VGNC	VGNC:37370
Canis familiaris	ZPR1	VGNC	VGNC:48846
Rattus norvegicus	ZPR1	RGD	RGD:1562173
Others	ZPR1	NCBI