KEGG   Homo sapiens (human): 256471
Entry
256471            CDS       T01001                                 
Symbol
MFSD8, CCMD, CLN7
Name
(RefSeq) major facilitator superfamily domain containing 8
  KO
K12307  MFS transporter, ceroid-lipofuscinosis neuronal protein 7
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00149  Neuronal ceroid lipofuscinosis
H01770  Macular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    256471 (MFSD8)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    256471 (MFSD8)
Transporters [BR:hsa02000]
 Major facilitator superfamily (MFS)
  Unknown transporters
   Others
    256471 (MFSD8)
SSDB
Motif
Pfam: MFS_1 Sugar_tr
Other DBs
NCBI-GeneID: 256471
NCBI-ProteinID: NP_689991
OMIM: 611124
HGNC: 28486
Ensembl: ENSG00000164073
UniProt: Q8NHS3
Position
4:complement(127917732..127965963)
AA seq 518 aa
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSI
WPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCL
YAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGF
ILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAW
TQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQ
FPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFL
TSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE
NT seq 1557 nt   +upstreamnt  +downstreamnt
atggccggcctgcggaacgaaagtgaacaggagccgctcttaggcgacacacctggaagc
agagaatgggacattttagagactgaagagcattataagagccgatggagatctattagg
attttatatcttactatgtttctcagcagtgtagggttttctgtagtgatgatgtccata
tggccatatctccaaaagattgatccgacagctgatacaagttttttgggctgggttatt
gcttcatatagtcttggccaaatggtagcttcacctatatttggtttatggtctaattat
agaccaagaaaagagcctcttattgtctccatcttgatttccgtggcagccaactgcctc
tatgcatatctccacatcccagcttctcataataaatactacatgctggttgctcgtgga
ttgttgggaattggagcaggaaatgtagcagttgttagatcatatactgctggtgctact
tcccttcaggaaagaacaagttccatggcaaacataagcatgtgtcaagcattaggtttt
attctaggtccagtttttcagacttgttttacattccttggagaaaaaggtgtgacatgg
gatgtgattaaactgcagataaacatgtatacaacaccagttttacttagcgccttcctg
ggaattttaaatattattctgatccttgccatactaagagaacatcgtgtggatgactca
ggaagacagtgtaaaagtattaattttgaagaagcaagtacagatgaagctcaggttccc
caaggaaatattgaccaggttgctgttgtggccatcaatgttctgttttttgtgactcta
tttatctttgccctttttgaaaccatcattactccattaacaatggatatgtatgcctgg
actcaagaacaagctgtgttatataatggcataatacttgctgctcttggggttgaagcc
gttgttattttcttaggagttaagttgctttccaaaaagattggcgagcgtgctattcta
ctgggaggactcatcgttgtatgggttggcttctttatcttgttaccttggggaaatcaa
tttcccaaaatacagtgggaagatttgcacaataattcaatccctaataccacatttggg
gaaattattattggtctttggaagtctccaatggaagatgacaatgaaagaccaactggt
tgctcgattgaacaagcctggtgcctctacaccccggtgattcatctggcccagttcctt
acatcagctgtgctaataggattaggctatccagtctgcaatcttatgtcctatactcta
tattcaaaaattctaggaccaaaacctcagggtgtatacatgggctggttaacagcatct
ggaagtggagcccggattcttgggcctatgttcatcagccaagtgtatgctcactgggga
ccacgatgggcattcagcctggtgtgtggaataatagtgctcaccatcaccctcctggga
gtggtttacaaaagactcattgctctttctgtaagatatgggaggattcaggaataa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (34)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (32)   
DNA sequence (62)   
   RefSeq(nuc) (32)   
   GenBank (15)   
   EMBL (15)   
Protein domain (2)   
   Pfam (2)   
All databases (121)   

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