KEGG   Homo sapiens (human): 64801
Entry
64801             CDS       T01001                                 
Symbol
ARV1, DEE38, EIEE38
Name
(RefSeq) protein ARV1 isoform 2
  KO
K21848  lipid intermediate transporter
Organism
hsa  Homo sapiens (human)
Disease
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    64801 (ARV1)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Others
    64801 (ARV1)
SSDB
Motif
Pfam: Arv1 ADD_ATRX zf_C2H2_13 DUF7573
Other DBs
NCBI-GeneID: 64801
NCBI-ProteinID: NP_073623
OMIM: 611647
HGNC: 29561
Ensembl: ENSP00000312458.2
UniProt: Q9H2C2
LinkDB
Position
1:230979094..231000733
AA seq 271 aa
MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKS
CQKPVDKYIEYDPVIILINAILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQ
DSNQNTAPDDLIRYAKEWDFYRMFAIAALEQTAYFIGIFTFLWVERPMTAKKKPNFILLL
KALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLS
GLLLESIMVYFFQSMEWDVGSDYAIFKSQDF
NT seq 816 nt   +upstreamnt  +downstreamnt
atgggcaacggcgggcggagcggcctgcagcaggggaaggggaacgtggatggggtggca
gcgactcctactgctgcctcggcctcctgccagtacaggtgcatcgaatgcaaccaggag
gccaaagagttgtaccgagactataaccacggtgtgctgaagataaccatctgtaaatcc
tgccagaaacctgtagacaaatatatcgagtatgatcctgttatcatcttgattaatgct
atattgtgcaaagctcaggcctacagacatattcttttcaatactcaaataaatatccat
ggaaaactctgcatattttgtttgctttgtgaagcatacctgaggtggtggcagcttcaa
gattccaaccagaatactgcccctgatgacttgatcagatatgctaaggaatgggatttc
tatagaatgtttgcgattgctgctttagaacaaactgcctattttattggcatttttacc
ttcctgtgggtagaacggcccatgacggcaaaaaaaaagcccaacttcattttgctgctg
aaagcattattattatctagctacggaaaactcttgctgattccagctgtcatttgggaa
catgactacacatctgtgtgcctcaaactcattaaagtatttgttcttacatcaaatttt
caggcaattagagtgaccctaaacatcaaccgtaagctctccttcttggccgtgttgagt
ggcttactgctggaaagcatcatggtctacttcttccagagtatggaatgggatgttgga
agtgattatgccatctttaaatctcaggacttctga

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