| Identification |
|---|
| BMDB Protein ID
| BMDBP02789 |
| Secondary Accession Numbers
| None |
| Name
| EH domain-containing protein 1 |
| Synonyms
|
Not Available
|
| Gene Name
| EHD1 |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in ATP binding |
| Specific Function
| ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth. Plays a role in myoblast fusion. Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing. Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis. Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis. |
| Pathways
|
Not Available
|
| Reactions
| Not Available |
| GO Classification
|
Not Available
|
| Cellular Location
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| 29 |
| Locus
| Not Available |
| SNPs
| EHD1 |
| Gene Sequence
|
>1605 bp
ATGTTCAGCTGGGTCAGCAAGGATGCCCGCCGCAAGAAGGAGCCGGAGCTCTTCCAGACG
GTGTCCGAGGGGCTGCGGCAGCTGTACGCGCAGAAGCTGCTGCCCCTGGAAGAGCACTAC
CGCTTCCACGAGTTCCACTCTCCCGCGCTGGAGGACGCCGACTTCGACAACAAGCCCATG
GTGCTCCTCGTGGGCCAGTACAGCACGGGCAAGACCACCTTCATCCGGCACCTGATTGAG
CAGGACTTCCCGGGGATGCGCATCGGGCCCGAGCCCACCACCGACTCTTTCATCGCGGTC
ATGCACGGCCCCACCGAGGGCGTGGTGCCGGGCAACGCGCTCGTCGTCGACCCGCGGCGG
CCCTTCCGCAAGCTCAACGCCTTCGGCAACGCCTTCCTCAACAGGTTCATGTGCGCCCAG
CTGCCCAACCCGGTCCTGGACAGCATAAGCATCATTGACACGCCGGGGATCCTGTCTGGA
GAGAAGCAGCGCATCAGCAGAGGGTATGACTTTGCGGCCGTCCTCGAGTGGTTTGCCGAG
CGGGTGGACCGTATCATCCTGCTCTTTGACGCCCACAAGCTGGACATCTCTGACGAGTTC
TCAGAGGTCATCAAGGCCCTCAAGAACCACGAGGACAAGATCCGTGTGGTGCTGAACAAG
GCCGACCAGATTGAGACGCAGCAGCTGATGCGGGTCTACGGGGCCCTCATGTGGTCCCTG
GGAAAGATCATCAACACCCCCGAGGTGGTCCGGGTGTACATCGGCTCCTTCTGGTCCCAC
CCGCTCCTCATCCCCGACAACCGCAAGCTCTTCGAGGCTGAGGAGCAGGACCTCTTCAAA
GACATCCAGTCTCTGCCCCGAAACGCTGCCCTCAGGAAGCTCAATGACCTAATCAAGAGG
GCGCGGCTGGCCAAGGTCCACGCGTATATCATCAGCTCCCTCAAGAAGGAGATGCCCAAT
GTCTTCGGGAAGGAGAGCAAGAAGAAAGAGCTGGTGAACAACCTGGGCGAGATCTACCAG
AAGATTGAGCGGGAGCATCAGATCTCCCCCGGTGACTTCCCCAACCTCCGCAAGATGCAG
GAGCTCCTGCAGACCCAGGACTTCAGCAAATTCCAGGCCCTGAAGCCCAAGCTGCTGGAC
ACAGTGGACGACATGCTGGCCAACGACATCGCCCGGCTAATGGTGATGGTGCGCCAGGAG
GAGTCCCTGATGCCCGCCCAGGTCGTGAAGGGCGGTGCCTTCGACGGCACCATGAATGGG
CCCTTTGGGCACGGCTATGGCGAGGGGGCCGGTGAGGGCATCGACGATGTCGAGTGGGTG
GTGGGCAAGGACAAGCCCACCTACGATGAGATCTTCTACACGCTGTCGCCCGTGAACGGC
AAGATCACGGGCGCCAACGCCAAGAAGGAGATGGTAAAGTCCAAGCTCCCCAACACTGTG
CTGGGGAAGATCTGGAAGCTGGCCGACGTGGACCGGGACGGGCTGCTGGACGACGAGGAG
TTCGCCCTGGCCAACCACCTCATCAAAGTCAAGCTGGAGGGCCACGAGCTGCCCGCCGAC
CTGCCTCCGCACCTGGTCCCGCCCTCCAAGCGGAGGCACGAGTGA
|
| Protein Properties |
|---|
| Number of Residues
| 534 |
| Molecular Weight
| 60682.0 |
| Theoretical pI
| 6.81 |
| Pfam Domain Function
|
Not Available |
| Signals
|
|
|
Transmembrane Regions
|
|
| Protein Sequence
|
>EH domain-containing protein 1
MFSWVSKDARRKKEPELFQTVSEGLRQLYAQKLLPLEEHYRFHEFHSPALEDADFDNKPM
VLLVGQYSTGKTTFIRHLIEQDFPGMRIGPEPTTDSFIAVMHGPTEGVVPGNALVVDPRR
PFRKLNAFGNAFLNRFMCAQLPNPVLDSISIIDTPGILSGEKQRISRGYDFAAVLEWFAE
RVDRIILLFDAHKLDISDEFSEVIKALKNHEDKIRVVLNKADQIETQQLMRVYGALMWSL
GKIINTPEVVRVYIGSFWSHPLLIPDNRKLFEAEEQDLFKDIQSLPRNAALRKLNDLIKR
ARLAKVHAYIISSLKKEMPNVFGKESKKKELVNNLGEIYQKIEREHQISPGDFPNLRKMQ
ELLQTQDFSKFQALKPKLLDTVDDMLANDIARLMVMVRQEESLMPAQVVKGGAFDGTMNG
PFGHGYGEGAGEGIDDVEWVVGKDKPTYDEIFYTLSPVNGKITGANAKKEMVKSKLPNTV
LGKIWKLADVDRDGLLDDEEFALANHLIKVKLEGHELPADLPPHLVPPSKRRHE
|
| External Links |
|---|
| GenBank ID Protein
| AAX08874.1 |
| UniProtKB/Swiss-Prot ID
| Q5E9R3 |
| UniProtKB/Swiss-Prot Entry Name
| EHD1_BOVIN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| BT020857 |
| GeneCard ID
| EHD1 |
| GenAtlas ID
| Not Available |
| HGNC ID
| Not Available |
| References |
|---|
| General References
| Not Available |
