KEGG   Homo sapiens (human): 5244
Entry
5244              CDS       T01001                                 
Symbol
ABCB4, ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3
Name
(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)
SSDB
Motif
Pfam: ABC_membrane ABC_tran SMC_N ABC_ATPase Rad17 AAA_22 RsgA_GTPase Zeta_toxin AAA AAA_14 AAA_16 AAA_5 AAA_29 AAA_7 AAA_15 G-alpha AAA_28 SbcC_Walker_B DUF815 DUF87 APS_kinase Peptidase_MA_2
Other DBs
NCBI-GeneID: 5244
NCBI-ProteinID: NP_061337
OMIM: 171060
HGNC: 45
Ensembl: ENSG00000005471
UniProt: P21439
Structure
Position
7:complement(87365896..87476027)
AA seq 1286 aa
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   +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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (15)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (47)   
   RefSeq(nuc) (37)   
   GenBank (5)   
   EMBL (5)   
3D Structure (4)   
   PDB (4)   
Protein domain (22)   
   Pfam (22)   
All databases (123)   

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