KEGG   Homo sapiens (human): 64801
Entry
64801             CDS       T01001                                 
Symbol
ARV1, DEE38, EIEE38
Name
(RefSeq) ARV1 homolog, fatty acid homeostasis modulator
  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 DUF7573
Other DBs
NCBI-GeneID: 64801
NCBI-ProteinID: NP_073623
OMIM: 611647
HGNC: 29561
Ensembl: ENSG00000173409
UniProt: Q9H2C2
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (9)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (23)   
   RefSeq(nuc) (9)   
   GenBank (7)   
   EMBL (7)   
Protein domain (3)   
   Pfam (3)   
All databases (43)   

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