Seroatlas · Human Serome Atlas

ZPR1

Zinc finger protein ZPR1

Also known as: ZNF259, ZPR1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O75312
Gene: ZPR1
Ensembl: ENSG00000109917
Chromosome: 11
Canonical length: 459 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

459 residues, UniProt reviewed canonical sequence.

>O75312|ZPR1
     1  MAASGAVEPG PPGAAVAPSP APAPPPAPDH LFRPISAEDE EQQPTEIESL CMNCYCNGMT
    61  RLLLTKIPFF REIIVSSFSC EHCGWNNTEI QSAGRIQDQG VRYTLSVRAL EDMNREVVKT
   121  DSAATRIPEL DFEIPAFSQK GALTTVEGLI TRAISGLEQD QPARRANKDA TAERIDEFIV
   181  KLKELKQVAS PFTLIIDDPS GNSFVENPHA PQKDDALVIT HYNRTRQQEE MLGLQEEAPA
   241  EKPEEEDLRN EVLQFSTNCP ECNAPAQTNM KLVQIPHFKE VIIMATNCEN CGHRTNEVKS
   301  GGAVEPLGTR ITLHITDASD MTRDLLKSET CSVEIPELEF ELGMAVLGGK FTTLEGLLKD
   361  IRELVTKNPF TLGDSSNPGQ TERLQEFSQK MDQIIEGNMK AHFIMDDPAG NSYLQNVYAP
   421  EDDPEMKVER YKRTFDQNEE LGLNDMKTEG YEAGLAPQR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZPR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 33 nTPM
skeletal muscle: 27 nTPM
testis: 26 nTPM
liver: 23 nTPM
adipose tissue: 20 nTPM
pancreas: 20 nTPM

Single-cell type

late spermatids: 625 nCPM
early spermatids: 226 nCPM
late primary spermatocytes: 205 nCPM
decidual stromal cells: 76 nCPM
extravillous trophoblasts: 73 nCPM
esophageal suprabasal cells: 70 nCPM

Immune cell

memory B-cell: 28 nTPM
NK-cell: 25 nTPM
T-reg: 24 nTPM
naive B-cell: 23 nTPM
myeloid DC: 23 nTPM
intermediate monocyte: 22 nTPM

Brain region

hypothalamus: 24 nTPM
white matter: 24 nTPM
spinal cord: 23 nTPM
hippocampal formation: 23 nTPM
cerebral cortex: 22 nTPM
pons: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZPR1.

Disease | AllUniProt

Conditions ZPR1 is implicated in, by any mechanism.

Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) MIM:619321

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 94 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.94
gnomAD pLI: 0
DepMap mean gene effect: -1.18
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Zinc finger, ZPR1-type
ZPR1
ZPR1, A/B domain
ZPR1, zinc finger domain
ZPR1, jelly-roll domain
ZPR1 zinc-finger domain
ZPR1 jelly-roll domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ZPR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

EEF1A1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ZPR1 as an antibody target. Whether an autoantibody or antibody against ZPR1 could matter depends on whether native ZPR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZPR1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ZPR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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