KEGG   Homo sapiens (human): 51062Help
Entry
51062             CDS       T01001                                 

Gene name
ATL1, AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1
Definition
(RefSeq) atlastin GTPase 1
  KO
K17339  atlastin [EC:3.6.5.-]
Organism
hsa  Homo sapiens (human)
Disease
H00265  Hereditary sensory and autonomic neuropathy
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    51062 (ATL1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.5  Acting on GTP to facilitate cellular and subcellular movement
    3.6.5.-  
     51062 (ATL1)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Others
    51062 (ATL1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: GBP GBP_C Tiam_CC_Ex
Motif
Other DBs
NCBI-GeneID: 51062
NCBI-ProteinID: NP_056999
OMIM: 606439
HGNC: 11231
Ensembl: ENSG00000198513
Vega: OTTHUMG00000140297
Pharos: Q8WXF7(Tbio)
UniProt: Q8WXF7 A0A0S2Z5B0 Q53F53
Structure
PDB: 

Position
14q22.1
AA seq 558 aa AA seqDB search
MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDHSFELDETALNRILLSE
AVRDKEVVAVSVAGAFRKGKSFLMDFMLRYMYNQESVDWVGDYNEPLTGFSWRGGSERET
TGIQIWSEIFLINKPDGKKVAVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQ
NVQEDDLQHLQLFTEYGRLAMEETFLKPFQSLIFLVRDWSFPYEFSYGADGGAKFLEKRL
KVSGNQHEELQNVRKHIHSCFTNISCFLLPHPGLKVATNPNFDGKLKEIDDEFIKNLKIL
IPWLLSPESLDIKEINGNKITCRGLVEYFKAYIKIYQGEELPHPKSMLQATAEANNLAAV
ATAKDTYNKKMEEICGGDKPFLAPNDLQTKHLQLKEESVKLFRGVKKMGGEEFSRRYLQQ
LESEIDELYIQYIKHNDSKNIFHAARTPATLFVVIFITYVIAGVTGFIGLDIIASLCNMI
MGLTLITLCTWAYIRYSGEYRELGAVIDQVAAALWDQGSTNEALYKLYSAAATHRHLYHQ
AFPTPKSESTEQSEKKKM
NT seq 1677 nt NT seq  +upstreamnt  +downstreamnt
atggccaagaaccgcagggacagaaacagttggggtggattttcggaaaagacatatgaa
tggagctcagaagaggaggagccagtgaaaaaggcaggaccagtccaagtcctcattgtc
aaagatgaccattcctttgagttagatgaaactgcattaaatcggatccttctctcggag
gctgtcagagacaaggaggttgttgctgtatctgttgctggagcatttagaaaaggaaaa
tcattcctgatggacttcatgttgagatacatgtacaaccaggaatcagttgattgggtt
ggagactacaatgaaccattgactggtttttcatggagaggtggatctgagcgagagacc
acaggaattcagatatggagtgaaatcttccttatcaataaacctgatggtaaaaaggtt
gcagtgttattgatggatactcagggaacctttgatagtcagtcaactttgagagattca
gccacagtatttgcccttagcacaatgatcagctcaatacaggtatataacttatcccaa
aatgtccaggaggatgatcttcagcacctccagcttttcactgagtatggcagactggca
atggaggaaacattcctgaagccatttcagagtctgatatttcttgttcgagactggagt
ttcccatacgaattttcatatggagccgatggtggtgccaaattcttggaaaaacgcctc
aaggtctcagggaaccagcatgaagaactacagaacgtcagaaaacacatccattcctgt
ttcaccaacatttcctgttttctgctacctcatcctggcttaaaagtagctaccaatcca
aactttgatggaaaattgaaagaaatagatgatgaattcatcaaaaacttgaaaatactg
attccttggctacttagtcccgagagcctagatattaaagagatcaatgggaataaaatc
acctgccggggtctggtggagtacttcaaggcttatataaagatctatcaaggtgaagaa
ttaccacatcccaaatccatgttacaggccacagcagaagctaacaatttagcagccgtg
gcaactgccaaggacacatacaacaaaaaaatggaagagatttgtggtggtgacaaacca
tttctggccccaaatgacttgcagaccaaacacctgcaacttaaggaagaatctgtgaag
ctattccgaggggtgaagaagatgggtggggaagaatttagccggcgttacctgcagcag
ttggagagtgaaatagatgaactttacatccaatatatcaagcacaatgatagcaaaaat
atcttccatgcagctcgtaccccagccacactgtttgtagtcatctttatcacatatgtg
attgctggtgtgactggattcattggtttggacatcatagctagcctatgcaatatgata
atgggactgacccttatcaccctgtgcacttgggcatatatccggtactctggagaatac
cgagagctgggagctgtaatagaccaggtggctgcagctctgtgggaccagggaagtaca
aatgaggctttgtacaagctttacagtgcagcagcaacccacagacatctgtatcatcaa
gctttccctacaccaaagtcggaatctactgaacaatcagaaaagaaaaaaatgtaa

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