1. Gene
  2. ZPR1 - ZPR1 zinc finger Gene

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

zf-ZPR1: ZPR1 zinc-finger domain (49 - 207)

zf-ZPR1

zf-ZPR1: ZPR1 zinc-finger domain (257 - 416)

  • 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

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