KEGG   Homo sapiens (human): 64241
Entry
64241             CDS       T01001                                 
Symbol
ABCG8, GBD4, STSL, STSL1
Name
(RefSeq) ATP binding cassette subfamily G member 8
  KO
K05684  ATP-binding cassette, subfamily G (WHITE), member 8 (sterolin 2)
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04975  Fat digestion and absorption
hsa04976  Bile secretion
hsa04979  Cholesterol metabolism
Disease
H00152  Sitosterolemia
H01213  Gallbladder disease
H01740  Macrothrombocytopenia
H02505  Atherosclerosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09131 Membrane transport
   02010 ABC transporters
    64241 (ABCG8)
 09150 Organismal Systems
  09154 Digestive system
   04976 Bile secretion
    64241 (ABCG8)
   04975 Fat digestion and absorption
    64241 (ABCG8)
   04979 Cholesterol metabolism
    64241 (ABCG8)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    64241 (ABCG8)
Transporters [BR:hsa02000]
 ABC transporters, eukaryotic type
  ABCG (White) subfamily
   ABCG5, 8 subgroups
    64241 (ABCG8)
SSDB
Motif
Pfam: ABC2_membrane ABC_tran ABC2_membrane_7 AAA_21 RsgA_GTPase
Other DBs
NCBI-GeneID: 64241
NCBI-ProteinID: NP_071882
OMIM: 605460
HGNC: 13887
Ensembl: ENSG00000143921
UniProt: Q9H221
Structure
Position
2:43838971..43882988
AA seq 673 aa
MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLAS
QVPWFEQLAQFKMPWTSPSCQNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITG
RGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPNLTVRETLAFIAQMRLPRTFS
QAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT
SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHM
VQYFTAIGYPCPRYSNPADFYVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFL
WKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFTTLIRRQISNDFRDLPTLLIH
GAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYY
ELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVF
CCRIMALAAAALLPTFHMASFFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCF
EGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPLYAIYLIVIGLSGGFMVLYYV
SLRFIKQKPSQDW
NT seq 2022 nt   +upstreamnt  +downstreamnt
atggccgggaaggcggcagaggagagagggctgccgaaaggggccactccccaggatacc
tcgggcctccaggatagattgttctcctctgaaagtgacaacagcctgtacttcacctac
agtggccagcccaacaccctggaggtcagagacctcaactaccaggtggacctggcctct
caggtcccttggtttgagcagctggctcagttcaagatgccctggacatctcccagctgc
cagaattcttgtgagctgggcatccagaacctaagcttcaaagtgagaagtgggcagatg
ctggccatcatagggagctcaggttgtgggagagcctccttgctagatgtgatcactggc
cgaggtcacggcggcaagatcaagtcaggccagatctggatcaatgggcagcccagctcg
cctcagctggtgaggaagtgtgtggcccacgtgcgccagcacaaccagctgctccccaac
ttgactgtgcgagagaccttggccttcattgcccagatgcggctgcccagaaccttctcc
caggcccagcgtgacaaaagggtggaggacgtgatcgcggagctgcggcttaggcagtgc
gctgacacccgcgtgggcaacatgtacgtgcgggggttgtcggggggtgagcgcaggaga
gtcagcattggggtgcagctcctgtggaacccaggaatccttattctcgacgaacccacc
tctgggctcgacagcttcacagcccacaacctggtgaagaccttgtccaggctggccaaa
ggcaaccggctggtgctcatctccctccaccagcctcgctctgacatcttcaggctgttt
gatctggtcctcctgatgacgtctggcacccccatctacttaggggcggcccagcacatg
gtccagtatttcacagccatcggctacccctgtcctcgctacagcaatcctgctgacttc
tatgtggacctgaccagcattgacaggcgcagcagagagcaggaattggccaccagggag
aaggctcagtcactcgcagccctgtttctagaaaaagtgcgtgacttagatgactttcta
tggaaagcagagacgaaggatcttgacgaggacacctgtgtggaaagcagcgtgacccca
ctagacaccaactgcctcccgagtcctacgaagatgcctggggcggtgcagcagtttacg
acgctgatccgtcgtcagatttccaacgacttccgagacctgcccaccctcctcatccat
ggggcggaggcctgtctgatgtcaatgaccatcggcttcctctattttggccatgggagc
atccagctctccttcatggatacagccgccctcttgttcatgatcggtgctctcatccct
ttcaacgtcattctggatgtcatctccaaatgttactcagagagggcaatgctttactat
gaactggaagacgggctgtacaccactggtccatatttctttgccaagatcctcggggag
cttccggagcactgtgcctacatcatcatctacgggatgcccacctactggctggccaac
ctgaggccaggcctccagcccttcctgctgcacttcctgctggtgtggctggtggtcttc
tgttgcaggattatggccctggccgccgcggccctgctccccaccttccacatggcctcc
ttcttcagcaatgccctctacaactccttctacctcgccgggggcttcatgataaacttg
agcagcctgtggacagtgcccgcgtggatttccaaagtgtccttcctgcggtggtgtttt
gaagggctgatgaagattcagttcagcagaagaacttataaaatgcctctcgggaacctc
accatcgcggtctcaggagataaaatcctcagtgtcatggagctggactcgtaccctctc
tacgccatctacctcatcgtcattggcctcagcggtggcttcatggtcctgtactacgtg
tccttaaggttcatcaaacagaaaccaagtcaagactggtga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (7)   
   KEGG DISEASE (4)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (10)   
   RefSeq(nuc) (2)   
   GenBank (4)   
   EMBL (4)   
3D Structure (8)   
   PDB (8)   
Protein domain (5)   
   Pfam (5)   
All databases (51)   

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