KEGG   Homo sapiens (human): 256471
Entry
256471            CDS       T01001                                 
Symbol
MFSD8, CCMD, CLN7, SLC74A1
Name
(RefSeq) major facilitator superfamily domain containing 8
  KO
K12307  MFS transporter, DHA1 family, 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)
  Drug transporters
   Drug:H+ antiporter-1 (12 spanner) (DHA1) family [TC:2.A.1.2]
    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  
Disease (3)   
   OMIM (3)   
Gene (13)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (35)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (33)   
DNA sequence (63)   
   RefSeq(nuc) (33)   
   GenBank (15)   
   EMBL (15)   
Protein domain (2)   
   Pfam (2)   
All databases (116)   

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