KEGG   Homo sapiens (human): 5826
Entry
5826              CDS       T01001                                 
Symbol
ABCD4, ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L
Name
(RefSeq) ATP binding cassette subfamily D member 4
  KO
K05678  ATP-binding cassette, subfamily D (ALD), member 4 [EC:7.6.2.8]
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04146  Peroxisome
hsa04977  Vitamin digestion and absorption
hsa04980  Cobalamin transport and metabolism
Network
nt06538  Cobalamin transport and metabolism
  Element
N01807  Transfer of cobalamin to the portal blood
Disease
H00174  Methylmalonic aciduria
H02221  Methylmalonic aciduria and homocystinuria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09131 Membrane transport
   02010 ABC transporters
    5826 (ABCD4)
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    5826 (ABCD4)
 09150 Organismal Systems
  09154 Digestive system
   04977 Vitamin digestion and absorption
    5826 (ABCD4)
   04980 Cobalamin transport and metabolism
    5826 (ABCD4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    5826 (ABCD4)
Enzymes [BR:hsa01000]
 7. Translocases
  7.6  Catalysing the translocation of other compounds
   7.6.2  Linked to the hydrolysis of a nucleoside triphosphate
    7.6.2.8  ABC-type vitamin B12 transporter
     5826 (ABCD4)
Transporters [BR:hsa02000]
 ABC transporters, eukaryotic type
  ABCD (ALD) subfamily
   ABCD4 subgroup
    5826 (ABCD4)
SSDB
Motif
Pfam: ABC_membrane_2 ABC_tran AAA_16 SbmA_BacA AAA_22 AAA_30 AAA_29 DEAD nSTAND3 AAA_7 AAA_23 T2SSE AAA_25 CoV_E
Other DBs
NCBI-GeneID: 5826
NCBI-ProteinID: NP_005041
OMIM: 603214
HGNC: 68
Ensembl: ENSG00000119688
UniProt: O14678
Structure
Position
14:complement(74285269..74302934)
AA seq 606 aa
MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQV
GLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLH
RLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQ
STGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYR
AGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGD
LSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQD
CEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLIT
GNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKE
VYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYL
QPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWEL
MRIKVE
NT seq 1821 nt   +upstreamnt  +downstreamnt
atggcggtcgcggggcccgcgcccggagctggcgccaggcccaggttagatctgcaattt
ctccagcggttcctgcagatactgaaggttttgtttccttcttggtcatcacaaaatgcc
ttgatgttcctgacccttttgtgcctgaccctactggagcaatttgtgatctaccaggtt
ggcttgatccccagtcagtactatggggtcctgggaaacaaagacttggaagggtttaag
actctgacattcctggctgtcatgctcattgttctgaactccacgctgaagagctttgat
cagttcacctgcaacctgctgtatgtgagctggaggaaggacctcactgagcaccttcac
cgcctctacttccggggccgtgcgtactacaccctcaacgtgctgcgggatgacatcgat
aacccggaccagcgcatcagccaggacgtggagcgattctgccggcagctcagcagcatg
gccagcaagctcatcatctccccgttcaccctcgtctactacacttaccagtgcttccaa
agcacaggctggctcgggcctgtgagcatcttcgggtatttcatcctggggaccgtggtg
aacaaaactttgatgggccccattgtgatgaagctggtgcatcaggagaagctggaggga
gattttaggttcaagcacatgcagattcgggtgaatgcggagcctgctgctttctacaga
gctgggcatgtggagcacatgaggacagaccgcaggctgcagagactccttcagacccag
agggagctgatgtccaaggagctctggctgtacatcggcatcaacacctttgactatctg
ggcagcatcctgagttacgttgtcatcgcaatccccattttcagcggggtctatggagac
ctgagtcccgcagagcttagcaccctggtcagcaagaatgcctttgtgtgcatctacctc
atcagctgcttcacccagctcatcgacctgtccacgacgctctcagatgtggctggctac
acgcacagaattgggcagcttcgggagacgcttctggacatgtccctgaagtcacaggac
tgcgagatcctgggcgagagcgagtggggcttggacacacccccagggtggccagcggca
gagccagcagacacagcatttctccttgagcgggtctccatctctgccccctcctctgac
aaacccctaatcaaggatctgagcctaaagatctccgagggacagagcctgctcatcaca
ggcaacacgggcactggcaagacctccttgctccgggttctgggtggcctctggacgagt
acacggggctcagtgcagatgctgacggactttgggccccatggggtgctattcctgcca
caaaagccattcttcactgacgggacccttcgggagcaggtgatatatcccctgaaggag
gtctaccccgactcaggttctgccgatgatgagaggatcttgaggttcttggaattggca
ggcctgtccaacttggtggcaaggacagagggcctggaccagcaggtggactggaactgg
tatgatgttctgtccccgggggagatgcaacggctctcctttgcccgactcttctacctg
cagccgaagtacgcagtgcttgatgaagccaccagtgccctgacagaggaagtggagagc
gagctctatcgcatcggccagcagctggggatgacgttcatcagtgtgggacatcggcag
agccttgagaagtttcattccttggttctgaaactctgtggaggaggaagatgggagctg
atgagaatcaaagtggaatga

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (4)   
   KEGG PATHWAY (4)   
Network (2)   
   KEGG NETWORK (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (25)   
   KEGG ORTHOLOGY (1)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (39)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (37)   
DNA sequence (80)   
   RefSeq(nuc) (48)   
   GenBank (16)   
   EMBL (16)   
3D Structure (1)   
   PDB (1)   
Protein domain (14)   
   Pfam (14)   
All databases (174)   

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