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Ehd1 EH-domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 13660, updated on 8-Dec-2022

Summary

Official Symbol
Ehd1provided by MGI
Official Full Name
EH-domain containing 1provided by MGI
Primary source
MGI:MGI:1341878
See related
Ensembl:ENSMUSG00000024772 AllianceGenome:MGI:1341878
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Past1; RME-1
Summary
Predicted to enable identical protein binding activity and small GTPase binding activity. Involved in several processes, including cholesterol homeostasis; low-density lipoprotein particle clearance; and positive regulation of cholesterol storage. Acts upstream of or within endocytosis and endosomal transport. Located in several cellular components, including cytoplasmic vesicle; lipid droplet; and platelet dense tubular network membrane. Is expressed in several structures, including branchial arch; limb bud; musculoskeletal system; reproductive system; and retina layer. Orthologous to human EHD1 (EH domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 79.5), duodenum adult (RPKM 51.9) and 26 other tissues See more
Orthologs
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Genomic context

See Ehd1 in Genome Data Viewer
Location:
19 A; 19 4.4 cM
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (6326926..6350126)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (6276896..6300096)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene microRNA 192 Neighboring gene predicted gene 14963 Neighboring gene predicted gene, 52380 Neighboring gene CDC42 binding protein kinase gamma (DMPK-like) Neighboring gene multiple endocrine neoplasia 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to nerve growth factor stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in endocytic recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endocytic recycling ISO
Inferred from Sequence Orthology
more info
 
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in endocytosis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within endosomal transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intracellular protein transport ISO
Inferred from Sequence Orthology
more info
 
involved_in low-density lipoprotein particle clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron projection development ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cholesterol storage IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of myoblast fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of neuron projection development ISO
Inferred from Sequence Orthology
more info
 
involved_in protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to cilium ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary pocket membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cilium IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in early endosome membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in myelin sheath HDA PubMed 
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in platelet dense tubular network membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in recycling endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in recycling endosome membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
EH domain-containing protein 1
Names
PAST homolog 1
mPAST1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_010119.5NP_034249.1  EH domain-containing protein 1

    See identical proteins and their annotated locations for NP_034249.1

    Status: VALIDATED

    Source sequence(s)
    AC127556
    Consensus CDS
    CCDS29501.1
    UniProtKB/Swiss-Prot
    Q9WVK4
    UniProtKB/TrEMBL
    A0A6P5P3A4, Q7TPR6, Q80ZZ0
    Related
    ENSMUSP00000025684.4, ENSMUST00000025684.4
    Conserved Domains (4) summary
    smart00027
    Location:438531
    EH; Eps15 homology domain
    cd09913
    Location:60300
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:2456
    EHD_N; N-terminal EH-domain containing protein
    pfam18150
    Location:288394
    DUF5600; Domain of unknown function (DUF5600)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    6326926..6350126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)