ATL3
entrez
25923
canonical
uniprot
Q6DD88
canonical
ensembl
ENSG00000184743
resolver
ensp
ENSP00000381844
resolver
ensp
ENSP00000437593
resolver
enst
ENST00000398868
resolver
enst
ENST00000538786
resolver
genesymbol
ATL3
resolver
hgnc
HGNC:24526
resolver
uniprot
B4DXC4
resolver
uniprot
F5H6I7
resolver
uniprot
Q8N7W5
resolver
uniprot
Q9H8Q5
resolver
uniprot
Q9UFL1
resolver
uniprot_entry
ATLA3_HUMAN
resolver
uniprot_entry
B4DXC4_HUMAN
resolver
uniprot_entry
F5H6I7_HUMAN
resolver
uniprot_sec
Q8N7W5
resolver
uniprot_sec
Q9H8Q5
resolver
uniprot_sec
Q9UFL1
resolver
amino_acid_sequence
MLSPQRVAAAASRGADDAMESSKPGPVQVVLVQKDQHSFELDEKALASILLQDHIRDLDVVVVSVAGAFRKGKSFILDFMLRYLYSQKESGHSNWLGDPEEPLTGFSWRGGSDPETTGIQIWSEVFTVEKPGGKKVAVVLMDTQGAFDSQSTVKDCATIFALSTMTSSVQIYNLSQNIQEDDLQQLQLFTEYGRLAMDEIFQKPFQTLMFLVRDWSFPYEYSYGLQGGMAFLDKRLQVKEHQHEEIQNVRNHIHSCFSDVTCFLLPHPGLQVATSPDFDGKLKDIAGEFKEQLQALIPYVLNPSKLMEKEINGSKVTCRGLLEYFKAYIKIYQGEDLPHPKSMLQATAEANNLAAAASAKDIYYNNMEEVCGGEKPYLSPDILEEKHCEFKQLALDHFKKTKKMGGKDFSFRYQQELEEEIKELYENFCKHNGSKNVFSTFRTPAVLFTGIVALYIASGLTGFIGLEVVAQLFNCMVGLLLIALLTWGYIRYSGQYRELGGAIDFGAAYVLEQASSHIGNSTQATVRDAVVGRPSMDKKAQ
uniprot
proteins
disease_involvement
DISEASE: Neuropathy, hereditary sensory, 1F (HSN1F) [MIM:615632]: An autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment. {ECO:0000269|PubMed:24459106, ECO:0000269|PubMed:37102997}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Atlastin-3 (ATL3) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of three-way junctions where ER tubules intersect (PubMed:18270207, PubMed:19665976, PubMed:24459106, PubMed:27619977, PubMed:37102997). Two atlastin-3 on neighboring ER tubules bind GTP and form loose homodimers through the GB1/RHD3-type G domains and 3HB regions. Upon GTP hydrolysis, the 3HB regions tighten, pulling the membranes together to drive their fusion. After fusion, the homodimer disassembles upon release of inorganic phosphate (Pi). Subsequently, GDP dissociates, resetting the monomers to a conformation ready for a new fusion cycle (By similarity). {ECO:0000250|UniProtKB:Q8WXF7, ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:19665976, ECO:0000269|PubMed:24459106, ECO:0000269|PubMed:27619977, ECO:0000269|PubMed:37102997}.
uniprot
proteins
mass_dalton
60542
uniprot
proteins
mutagenesis
MUTAGEN 70; /note="R->E: Loss of GTPase-dependent fusogenic activity."; /evidence="ECO:0000269|PubMed:37102997"; MUTAGEN 73; /note="K->A: Changed endoplasmic reticulum tubular network membrane organization."; /evidence="ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:27619977"; MUTAGEN 109; /note="R->A: Decreased GTPase activity."; /evidence="ECO:0000269|PubMed:28602821"; MUTAGEN 213; /note="R->Q: Changed endoplasmic reticulum tubular network membrane organization."; /evidence="ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:27619977"; MUTAGEN 338; /note="P->R: Loss of GTPase-dependent fusogenic activity."; /evidence="ECO:0000269|PubMed:37102997"; MUTAGEN 503; /note="I->D: Loss of GTPase-dependent fusogenic activity."; /evidence="ECO:0000269|PubMed:37102997
uniprot
proteins
protein_family
GB1 subfamily
uniprot
proteins
protein_family
GB1/RHD3 GTPase family
uniprot
proteins
protein_family
TRAFAC class dynamin-like GTPase superfamily
uniprot
proteins
pubmed
14506257
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18270207
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19665976
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23969831
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24459106
uniprot
proteins
pubmed
25548161
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27619977
uniprot
proteins
pubmed
28602821
uniprot
proteins
pubmed
32075961
uniprot
proteins
pubmed
34546351
uniprot
proteins
pubmed
37102997
uniprot
proteins
sequence_length
541
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:19665976, ECO:0000269|PubMed:23969831, ECO:0000269|PubMed:24459106, ECO:0000269|PubMed:25548161, ECO:0000269|PubMed:27619977, ECO:0000269|PubMed:37102997}; Multi-pass membrane protein {ECO:0000269|PubMed:18270207}. Note=Localizes to endoplasmic reticulum tubules and accumulates in punctuate structures corresponding to 3-way junctions, which represent crossing-points at which the tubules build a polygonal network. {ECO:0000269|PubMed:23969831, ECO:0000269|PubMed:24459106, ECO:0000269|PubMed:27619977}.
uniprot
proteins
transmembrane_region
TRANSMEM 446..466; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 468..488; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins