Gene Gene information from NCBI Gene database.
Entrez ID 51454
Gene name GULP PTB domain containing engulfment adaptor 1
Gene symbol GULP1
Synonyms (NCBI Gene)
CED-6CED6GULP
Chromosome 2
Chromosome location 2q32.1-q32.2
Summary The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by R
miRNA miRNA information provided by mirtarbase database.
266
miRTarBase ID miRNA Experiments Reference
MIRT016998 hsa-miR-335-5p Microarray 18185580
MIRT024316 hsa-miR-215-5p Microarray 19074876
MIRT026204 hsa-miR-192-5p Microarray 19074876
MIRT527139 hsa-miR-1277-5p PAR-CLIP 22012620
MIRT527138 hsa-miR-5011-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0006869 Process Lipid transport IEA
GO:0006909 Process Phagocytosis IEA
GO:0006911 Process Phagocytosis, engulfment IDA 11729193
GO:0006911 Process Phagocytosis, engulfment TAS 10574763
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608165 18649 ENSG00000144366
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBP9
Protein name PTB domain-containing engulfment adapter protein 1 (Cell death protein 6 homolog) (PTB domain adapter protein CED-6) (Protein GULP)
Protein function May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands,
PDB 6ITU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00640 PID 27 155 Phosphotyrosine interaction domain (PTB/PID) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Detected in macrophages, pancreas, kidney, skeletal muscle, heart, colon, intestine, lung, placenta and ovary. {ECO:0000269|PubMed:10574763}.
Sequence
MNRAFSRKKDKTWMHTPEALSKHFIPYNAKFLGSTEVEQPKGTEVVRDAVRKLKFARHIK
KSEGQKIPKVELQISIYGVKILEPKTKEVQHNCQLHRISFCADDKTDKRIFTFICKDSES
NKHLCYVFDSEKCAEEITLTIGQAFDLAYRKFLES
GGKDVETRKQIAGLQKRIQDLETEN
MELKNKVQDLENQLRITQVSAPPAGSMTPKSPSTDIFDMIPFSPISHQSSMPTRNGTQPP
PVPSRSTEIKRDLFGAEPFDPFNCGAADFPPDIQSKLDEMQEGFKMGLTLEGTVFCLDPL
DSRC
Sequence length 304
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Efferocytosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THYROID DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 22451657
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 29964205
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 28284325
★☆☆☆☆
Found in Text Mining only
Emphysema Emphysema Pubtator 28284325 Associate
★☆☆☆☆
Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1 Episodic Kinesigenic Dyskinesia BEFREE 31373844
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 29964205
★☆☆☆☆
Found in Text Mining only
Niemann-Pick Disease, Type B Niemann-Pick Disease BEFREE 23415435
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 28284325
★☆☆☆☆
Found in Text Mining only
Ovarian adenocarcinoma Ovarian adenocarcinoma BEFREE 22451657
★☆☆☆☆
Found in Text Mining only
ovarian neoplasm Ovarian neoplasm BEFREE 29964205
★☆☆☆☆
Found in Text Mining only