EIPR1
EARP and GARP complex-interacting protein 1
Also known as: EIPR-1, EIPR1_HUMAN, TSSC1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q53HC9
- Gene
- EIPR1
- Ensembl
- ENSG00000032389
- Chromosome
- 2
- Canonical length
- 387 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Intermediate filaments
OverviewNCBI Gene
This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]
Canonical amino-acid sequenceUniProt
387 residues, UniProt reviewed canonical sequence.
>Q53HC9|EIPR1
1 MEDDAPVIYG LEFQARALTP QTAETDAIRF LVGTQSLKYD NQIHIIDFDD ENNIINKNVL
61 LHQAGEIWHI SASPADRGVL TTCYNRTSDS KVLTCAAVWR MPKELESGSH ESPDDSSSTA
121 QTLELLCHLD NTAHGNMACV VWEPMGDGKK IISLADNHIL LWDLQESSSQ AVLASSASLE
181 GKGQLKFTSG RWSPHHNCTQ VATANDTTLR GWDTRSMSQI YCIENAHGQL VRDLDFNPNK
241 QYYLASCGDD CKVKFWDTRN VTEPVKTLEE HSHWVWNVRY NHSHDQLVLT GSSDSRVILS
301 NMVSISSEPF GHLVDDDDIS DQEDHRSEEK SKEPLQDNVI ATYEEHEDSV YAVDWSSADP
361 WLFASLSYDG RLVINRVPRA LKYHILLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EIPR1 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)
- 0.27
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 33 nTPM
- cerebral cortex: 31 nTPM
- pituitary gland: 29 nTPM
- amygdala: 28 nTPM
- hypothalamus: 27 nTPM
- hippocampal formation: 25 nTPM
Single-cell type
- retinal horizontal cells: 138 nCPM
- lactotrophs: 109 nCPM
- corticotrophs: 107 nCPM
- oocytes: 106 nCPM
- renal collecting duct intercalated cells: 106 nCPM
- thyrotrophs: 98 nCPM
Immune cell
- plasmacytoid DC: 30 nTPM
- myeloid DC: 27 nTPM
- NK-cell: 22 nTPM
- basophil: 22 nTPM
- T-reg: 22 nTPM
- naive B-cell: 21 nTPM
Brain region
- hypothalamus: 28 nTPM
- cerebral cortex: 27 nTPM
- basal ganglia: 26 nTPM
- hippocampal formation: 25 nTPM
- cerebellum: 24 nTPM
- pons: 24 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EIPR1.
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 69 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOPLASIA OF THE CORPUS CALLOSUM, AND RECURRENT INFECTIONS
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)
- 0.57
- gnomAD pLI
- 0.06
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endocytic recycling
- positive regulation of endocytic recycling
- positive regulation of retrograde transport, endosome to Golgi
- protein ubiquitination
- regulation of insulin secretion
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WD40 repeat
- WD40/YVTN repeat-like-containing domain superfamily
- WD40 repeat, conserved site
- WD domain, G-beta repeat
- EARP and GARP complex-interacting protein 1
- EIPR1-like, beta-propeller
- EIPR1 beta-propeller
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EIPR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EIPR1 as an antibody target. Whether an autoantibody or antibody against EIPR1 could matter depends on whether native EIPR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EIPR1 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 EIPR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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