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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 (ZPR1 Zinc Finger) is a Protein Coding gene. Diseases associated with ZPR1 include Muscular Atrophy and Spinal Muscular Atrophy. Among its related pathways are Translational Control. Gene Ontology (GO) annotations related to this gene include receptor tyrosine kinase binding and translation initiation factor binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11283611 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0030971 | receptor tyrosine kinase binding | IEA | -- |
GO:0031369 | translation initiation factor binding | IEA,IPI | 9852145 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IDA | 9852145 |
GO:0005654 | nucleoplasm | IDA | 17068332 |
GO:0005730 | nucleolus | IEA,IDA | 9763455 |
GO:0005737 | cytoplasm | IBA,IDA | 9763455 |
GO:0015030 | Cajal body | IEA,IDA | 11283611 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Translational Control |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000226 | microtubule cytoskeleton organization | IEA,ISS | -- |
GO:0001833 | inner cell mass cell proliferation | IEA | -- |
GO:0001834 | trophectodermal cell proliferation | IEA,ISS | -- |
GO:0006397 | mRNA processing | IEA | -- |
GO:0007165 | signal transduction | TAS | 8650580 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZNF259 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZNF259 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZNF259 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Zfp259 30 31 |
|
OneToOne | |
Zpr1 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Zfp259 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ZNF259 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZNF259 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZNF259 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | znf259 30 |
|
||
Str.4088 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.6633 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | znf259 31 |
|
OneToOne | |
zpr1 30 |
|
||||
wufc17g09 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Zpr1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004417 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_W03F9.1 30 |
|
||
W03F9.1 31 |
|
OneToOne | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACL137C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ZPR1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E16215g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G22480 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0471900 30 |
|
||
Os.27108 30 |
|
||||
Corn (Zea mays) |
Liliopsida | Zm.4971 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08507 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | zpr1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5185 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.639 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
778441 | Benign: not provided | 116,779,049(-) | G/A | MISSENSE_VARIANT | |
rs35120633 | - | p.Ala264Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1047727 | CNV | loss | 25217958 |
nsv507 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular atrophy |
|
|
spinal muscular atrophy |
|
|
spinal muscular atrophy, type i |
|
|
fundus dystrophy |
|
|
retinitis pigmentosa |
|
|