EHD1 (EH domain containing 1)

2014-08-01  

Identity

HGNC
EHD1
LOCATION
11q13.1
LOCUSID
10938
ALIAS
H-PAST,HPAST1,PAST,PAST1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10938
MIM: 605888
HGNC: 3242
Ensembl: ENSG00000110047

Variants:

dbSNP: 10938
ClinVar: 10938
TCGA: ENSG00000110047
COSMIC: EHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110047ENST00000320631Q9H4M9
ENSG00000110047ENST00000320631B2R5U3
ENSG00000110047ENST00000359393Q9H4M9
ENSG00000110047ENST00000359393B2R5U3
ENSG00000110047ENST00000411683C9JIJ3
ENSG00000110047ENST00000421510C9J2Z4
ENSG00000110047ENST00000433803C9JC03
ENSG00000110047ENST00000455148C9JDQ8
ENSG00000110047ENST00000457202C9IZH1
ENSG00000110047ENST00000621096A0A024R571

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
120320692002A tubular EHD1-containing compartment involved in the recycling of major histocompatibility complex class I molecules to the plasma membrane.157
175076472007Myosin Vb interacts with Rab8a on a tubular network containing EHD1 and EHD3.87
198644582009MICAL-L1 links EHD1 to tubular recycling endosomes and regulates receptor recycling.82
150207132004Rabenosyn-5 and EHD1 interact and sequentially regulate protein recycling to the plasma membrane.79
172845182007EHD1 regulates beta1 integrin endosomal transport: effects on focal adhesions, cell spreading and migration.67
157106262005ATP binding regulates oligomerization and endosome association of RME-1 family proteins.45
255957982015Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase.44
193694192009Eps15 homology domain 1-associated tubules contain phosphatidylinositol-4-phosphate and phosphatidylinositol-(4,5)-bisphosphate and are required for efficient recycling.43
204891642010EH domain proteins regulate cardiac membrane protein targeting.41
121214202002EHD3: a protein that resides in recycling tubular and vesicular membrane structures and interacts with EHD1.36

Citation

Dessen P

EHD1 (EH domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54277/ehd1