EIPR1 (EARP complex and GARP complex interacting protein 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 7260
Gene name EARP complex and GARP complex interacting protein 1
Gene symbol EIPR1
Synonyms (NCBI Gene)
EIPR-1TSSC1
Chromosome 2
Chromosome location 2p25.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
11
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT495000 hsa-miR-452-5p PAR-CLIP 23708386
MIRT494999 hsa-miR-4676-3p PAR-CLIP 23708386
MIRT494998 hsa-miR-892c-3p PAR-CLIP 23708386
MIRT494997 hsa-miR-3125 PAR-CLIP 23708386
MIRT494996 hsa-miR-3916 PAR-CLIP 23708386
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0000938 Component GARP complex IDA 27440922
GO:0005515 Function Protein binding IPI 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0005802 Component Trans-Golgi network IDA 27440922
GO:0016567 Process Protein ubiquitination IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608998 12383 ENSG00000032389
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53HC9
Protein name EARP and GARP complex-interacting protein 1 (Endosome-associated recycling protein-interacting protein) (Golgi-associated retrograde protein-interacting protein) (Tumor-suppressing STF cDNA 1 protein) (Tumor-suppressing subchromosomal transferable fragmen
Protein function Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network (PubMed:27440922). Mediates the recruitment of Golgi-associated retrograde p
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 218 → 257 WD domain, G-beta repeat Repeat
PF00400 WD40 337 → 374 WD domain, G-beta repeat Repeat
Sequence 
MEDDAPVIYGLEFQARALTPQTAETDAIRFLVGTQSLKYDNQIHIIDFDDENNIINKNVL
LHQAGEIWHISASPADRGVLTTCYNRTSDSKVLTCAAVWRMPKELESGSHESPDDSSSTA
QTLELLCHLDNTAHGNMACVVWEPMGDGKKIISLADNHILLWDLQESSSQAVLASSASLE
GKGQLKFTSGRWSPHHNCTQVATANDTTLRGWDTRSMSQIYCIENAHGQLVRDLDFNPNK
QYYLASCGDDCKVKFWDTRNVTEPVKTLEEHSHWVWNVRYNHSHDQLVLTGSSDSRVILS
NMVSISSEPFGHLVDDDDISDQEDHRSEEKSKEPLQDNVIATYEEHEDSVYAVDWSSADP
WLFASLSYDGRLVINRVPRALKYHILL
Sequence length 387
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 23933319
★★★★★
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 30231249 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
insulinoma Insulinoma BEFREE 31721635
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 23933319
★★★★★
★☆☆☆☆
Found in Text Mining only