KEGG   Homo sapiens (human): 5244Help
Entry
5244              CDS       T01001                                 

Gene name
ABCB4, ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3
Definition
(RefSeq) ATP binding cassette subfamily B member 4
  KO
K05659  ATP-binding cassette, subfamily B (MDR/TAP), member 4 [EC:7.6.2.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04976  Bile secretion
Disease
H00624  Progressive familial intrahepatic cholestasis
H01213  Gallbladder disease
H02193  Intrahepatic cholestasis of pregnancy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09131 Membrane transport
   02010 ABC transporters
    5244 (ABCB4)
 09150 Organismal Systems
  09154 Digestive system
   04976 Bile secretion
    5244 (ABCB4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    5244 (ABCB4)
Enzymes [BR:hsa01000]
 7. Translocases
  7.6  Catalysing the translocation of other compounds
   7.6.2  Linked to the hydrolysis of a nucleoside triphosphate
    7.6.2.2  ABC-type xenobiotic transporter
     5244 (ABCB4)
Transporters [BR:hsa02000]
 ABC transporters, eukaryotic type
  ABCB (MDR/TAP) subfamily
   ABCB1, 4, 5 subgroups
    5244 (ABCB4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ABC_membrane ABC_tran SMC_N ABC_ATPase AAA_16 Rad17 AAA_22 RsgA_GTPase AAA Zeta_toxin G-alpha AAA_15 AAA_7 AAA_29 AAA_5 AAA_14 AAA_30 DUF87 SbcCD_C AAA_24 ATP-synt_ab DUF815 APS_kinase DUF2207
Motif
Other DBs
NCBI-GeneID: 5244
NCBI-ProteinID: NP_061337
OMIM: 171060
HGNC: 45
Ensembl: ENSG00000005471
Vega: OTTHUMG00000023396
Pharos: P21439(Tbio)
UniProt: P21439
LinkDB All DBs
Position
7q21.12
AA seq 1286 aa AA seqDB search
MDLEAAKNGTAWRPTSAEGDFELGISSKQKRKKTKTVKMIGVLTLFRYSDWQDKLFMSLG
TIMAIAHGSGLPLMMIVFGEMTDKFVDTAGNFSFPVNFSLSLLNPGKILEEEMTRYAYYY
SGLGAGVLVAAYIQVSFWTLAAGRQIRKIRQKFFHAILRQEIGWFDINDTTELNTRLTDD
ISKISEGIGDKVGMFFQAVATFFAGFIVGFIRGWKLTLVIMAISPILGLSAAVWAKILSA
FSDKELAAYAKAGAVAEEALGAIRTVIAFGGQNKELERYQKHLENAKEIGIKKAISANIS
MGIAFLLIYASYALAFWYGSTLVISKEYTIGNAMTVFFSILIGAFSVGQAAPCIDAFANA
RGAAYVIFDIIDNNPKIDSFSERGHKPDSIKGNLEFNDVHFSYPSRANVKILKGLNLKVQ
SGQTVALVGSSGCGKSTTVQLIQRLYDPDEGTINIDGQDIRNFNVNYLREIIGVVSQEPV
LFSTTIAENICYGRGNVTMDEIKKAVKEANAYEFIMKLPQKFDTLVGERGAQLSGGQKQR
IAIARALVRNPKILLLDEATSALDTESEAEVQAALDKAREGRTTIVIAHRLSTVRNADVI
AGFEDGVIVEQGSHSELMKKEGVYFKLVNMQTSGSQIQSEEFELNDEKAATRMAPNGWKS
RLFRHSTQKNLKNSQMCQKSLDVETDGLEANVPPVSFLKVLKLNKTEWPYFVVGTVCAIA
NGGLQPAFSVIFSEIIAIFGPGDDAVKQQKCNIFSLIFLFLGIISFFTFFLQGFTFGKAG
EILTRRLRSMAFKAMLRQDMSWFDDHKNSTGALSTRLATDAAQVQGATGTRLALIAQNIA
NLGTGIIISFIYGWQLTLLLLAVVPIIAVSGIVEMKLLAGNAKRDKKELEAAGKIATEAI
ENIRTVVSLTQERKFESMYVEKLYGPYRNSVQKAHIYGITFSISQAFMYFSYAGCFRFGA
YLIVNGHMRFRDVILVFSAIVFGAVALGHASSFAPDYAKAKLSAAHLFMLFERQPLIDSY
SEEGLKPDKFEGNITFNEVVFNYPTRANVPVLQGLSLEVKKGQTLALVGSSGCGKSTVVQ
LLERFYDPLAGTVFVDFGFQLLDGQEAKKLNVQWLRAQLGIVSQEPILFDCSIAENIAYG
DNSRVVSQDEIVSAAKAANIHPFIETLPHKYETRVGDKGTQLSGGQKQRIAIARALIRQP
QILLLDEATSALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEH
GTHQQLLAQKGIYFSMVSVQAGTQNL
NT seq 3861 nt NT seq  +upstreamnt  +downstreamnt
atggatcttgaggcggcaaagaacggaacagcctggcgccccacgagcgcggagggcgac
tttgaactgggcatcagcagcaaacaaaaaaggaaaaaaacgaagacagtgaaaatgatt
ggagtattaacattgtttcgatactccgattggcaggataaattgtttatgtcgctgggt
accatcatggccatagctcacggatcaggtctccccctcatgatgatagtatttggagag
atgactgacaaatttgttgatactgcaggaaacttctcctttccagtgaacttttccttg
tcgctgctaaatccaggcaaaattctggaagaagaaatgactagatatgcatattactac
tcaggattgggtgctggagttcttgttgctgcctatatacaagtttcattttggactttg
gcagctggtcgacagatcaggaaaattaggcagaagttttttcatgctattctacgacag
gaaataggatggtttgacatcaacgacaccactgaactcaatacgcggctaacagatgac
atctccaaaatcagtgaaggaattggtgacaaggttggaatgttctttcaagcagtagcc
acgttttttgcaggattcatagtgggattcatcagaggatggaagctcacccttgtgata
atggccatcagccctattctaggactctctgcagccgtttgggcaaagatactctcggca
tttagtgacaaagaactagctgcttatgcaaaagcaggcgccgtggcagaagaggctctg
ggggccatcaggactgtgatagctttcgggggccagaacaaagagctggaaaggtatcag
aaacatttagaaaatgccaaagagattggaattaaaaaagctatttcagcaaacatttcc
atgggtattgccttcctgttaatatatgcatcatatgcactggccttctggtatggatcc
actctagtcatatcaaaagaatatactattggaaatgcaatgacagtttttttttcaatc
ctaattggagctttcagtgttggccaggctgccccatgtattgatgcttttgccaatgca
agaggagcagcatatgtgatctttgatattattgataataatcctaaaattgacagtttt
tcagagagaggacacaaaccagacagcatcaaagggaatttggagttcaatgatgttcac
ttttcttacccttctcgagctaacgtcaagatcttgaagggcctcaacctgaaggtgcag
agtgggcagacggtggccctggttggaagtagtggctgtgggaagagcacaacggtccag
ctgatacagaggctctatgaccctgatgagggcacaattaacattgatgggcaggatatt
aggaactttaatgtaaactatctgagggaaatcattggtgtggtgagtcaggagccggtg
ctgttttccaccacaattgctgaaaatatttgttatggccgtggaaatgtaaccatggat
gagataaagaaagctgtcaaagaggccaacgcctatgagtttatcatgaaattaccacag
aaatttgacaccctggttggagagagaggggcccagctgagtggtgggcagaagcagagg
atcgccattgcacgtgccctggttcgcaaccccaagatccttctgctggatgaggccacg
tcagcattggacacagaaagtgaagctgaggtacaggcagctctggataaggccagagaa
ggccggaccaccattgtgatagcacaccgactgtctacggtccgaaatgcagatgtcatc
gctgggtttgaggatggagtaattgtggagcaaggaagccacagcgaactgatgaagaag
gaaggggtgtacttcaaacttgtcaacatgcagacatcaggaagccagatccagtcagaa
gaatttgaactaaatgatgaaaaggctgccactagaatggccccaaatggctggaaatct
cgcctatttaggcattctactcagaaaaaccttaaaaattcacaaatgtgtcagaagagc
cttgatgtggaaaccgatggacttgaagcaaatgtgccaccagtgtcctttctgaaggtc
ctgaaactgaataaaacagaatggccctactttgtcgtgggaacagtatgtgccattgcc
aatggggggcttcagccggcattttcagtcatattctcagagatcatagcgatttttgga
ccaggcgatgatgcagtgaagcagcagaagtgcaacatattctctttgattttcttattt
ctgggaattatttctttttttactttcttccttcagggtttcacgtttgggaaagctggc
gagatcctcaccagaagactgcggtcaatggcttttaaagcaatgctaagacaggacatg
agctggtttgatgaccataaaaacagtactggtgcactttctacaagacttgccacagat
gctgcccaagtccaaggagccacaggaaccaggttggctttaattgcacagaatatagct
aaccttggaactggtattatcatatcatttatctacggttggcagttaaccctattgcta
ttagcagttgttccaattattgctgtgtcaggaattgttgaaatgaaattgttggctgga
aatgccaaaagagataaaaaagaactggaagctgctggaaagattgcaacagaggcaata
gaaaatattaggacagttgtgtctttgacccaggaaagaaaatttgaatcaatgtatgtt
gaaaaattgtatggaccttacaggaattctgtgcagaaggcacacatctatggaattact
tttagtatctcacaagcatttatgtatttttcctatgccggttgttttcgatttggtgca
tatctcattgtgaatggacatatgcgcttcagagatgttattctggtgttttctgcaatt
gtatttggtgcagtggctctaggacatgccagttcatttgctccagactatgctaaagct
aagctgtctgcagcccacttattcatgctgtttgaaagacaacctctgattgacagctac
agtgaagaggggctgaagcctgataaatttgaaggaaatataacatttaatgaagtcgtg
ttcaactatcccacccgagcaaacgtgccagtgcttcaggggctgagcctggaggtgaag
aaaggccagacactagccctggtgggcagcagtggctgtgggaagagcacggtggtccag
ctcctggagcggttctacgaccccttggcggggacagtgtttgtggactttggttttcag
cttctcgatggtcaagaagcaaagaaactcaatgtccagtggctcagagctcaactcgga
atcgtgtctcaggagcctatcctatttgactgcagcattgccgagaatattgcctatgga
gacaacagccgggttgtatcacaggatgaaattgtgagtgcagccaaagctgccaacata
catcctttcatcgagacgttaccccacaaatatgaaacaagagtgggagataaggggact
cagctctcaggaggtcaaaaacagaggattgctattgcccgagccctcatcagacaacct
caaatcctcctgttggatgaagctacatcagctctggatactgaaagtgaaaaggttgtc
caagaagccctggacaaagccagagaaggccgcacctgcattgtgattgctcaccgcctg
tccaccatccagaatgcagacttaatagtggtgtttcagaatgggagagtcaaggagcat
ggcacgcatcagcagctgctggcacagaaaggcatctatttttcaatggtcagtgtccag
gctgggacacagaacttatga

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