ZPR1 - ZPR1 zinc finger Gene

Homo sapiens

Also known as GKAF; ZNF259

Gene ID: 8882 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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