Gene Gene information from NCBI Gene database.
Entrez ID 10938
Gene name EH domain containing 1
Gene symbol EHD1
Synonyms (NCBI Gene)
H-PASTHPAST1PASTPAST1
Chromosome 11
Chromosome location 11q13.1
Summary This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be a
miRNA miRNA information provided by mirtarbase database.
388
miRTarBase ID miRNA Experiments Reference
MIRT005094 hsa-miR-155-5p Microarray 19193853
MIRT025296 hsa-miR-34a-5p Proteomics 21566225
MIRT025296 hsa-miR-34a-5p Proteomics 21566225
MIRT025296 hsa-miR-34a-5p Proteomics 21566225
MIRT025718 hsa-miR-7-5p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
76
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 12121420, 15020713, 17233914, 19864458, 22284051, 23596323, 26226295, 27189942, 28514442, 32296183, 33961781
GO:0005524 Function ATP binding IEA
GO:0005525 Function GTP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605888 3242 ENSG00000110047
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H4M9
Protein name EH domain-containing protein 1 (PAST homolog 1) (hPAST1) (Testilin)
Protein function ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of re
PDB 2JQ6 , 2KFF , 2KFG , 2KFH , 2KSP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16880 EHD_N 24 56 N-terminal EH-domain containing protein Family
PF00350 Dynamin_N 61 221 Dynamin family Domain
PF18150 DUF5600 288 394 Domain of unknown function (DUF5600) Domain
PF12763 EF-hand_4 439 533 Cytoskeletal-regulatory complex EF hand Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:10395801}.
Sequence
Sequence length 534
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
GLIOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA 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
Autistic Disorder Autism BEFREE 23715297
★☆☆☆☆
Found in Text Mining only
Bardet-Biedl syndrome 1 (disorder) Bardet-Biedl Syndrome BEFREE 10564830
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37324188 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 27531895, 29549343
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 23785128
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 11335776
★☆☆☆☆
Found in Text Mining only
First degree atrioventricular block Atrioventricular block BEFREE 30105427
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 23942620
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 27531895 Stimulate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 27531895 Stimulate
★☆☆☆☆
Found in Text Mining only