KEGG   Homo sapiens (human): 256471Help
Entry
256471            CDS       T01001                                 

Gene name
MFSD8, CCMD, CLN7
Definition
(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 (NCL)
H00810  Progressive myoclonic epilepsy (PME/ EPM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Transport and catabolism
   04142 Lysosome
    256471 (MFSD8)
Transporters [BR:hsa02000]
 Major Facilitator Superfamily (MFS)
  Unknown transporters
   Others
    256471 (MFSD8)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: MFS_1 Sugar_tr
Motif
Other DBs
NCBI-GeneID: 256471
NCBI-ProteinID: NP_689991
OMIM: 611124
HGNC: 28486
Ensembl: ENSG00000164073
Vega: OTTHUMG00000133303
Pharos: Q8NHS3(Tbio)
UniProt: Q8NHS3
Position
4q28.2
AA seq 518 aa AA seqDB search
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSI
WPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCL
YAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGF
ILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAW
TQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQ
FPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFL
TSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE
NT seq 1557 nt NT seq  +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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (16)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (49)   
   RefSeq(nuc) (21)   
   GenBank (14)   
   EMBL (14)   
Protein domain (2)   
   Pfam (2)   
All databases (93)   

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