KEGG   Homo sapiens (human): 5826Help
Entry
5826              CDS       T01001                                 

Gene name
ABCD4, ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L
Definition
(RefSeq) ATP binding cassette subfamily D member 4
  KO
K05678  ATP-binding cassette, subfamily D (ALD), member 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04146  Peroxisome
Disease
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)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    5826 (ABCD4)
Transporters [BR:hsa02000]
 ABC transporters, eukaryotic type
  ABCD (ALD) subfamily
   ABCD4 subgroup
    5826 (ABCD4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ABC_membrane_2 ABC_tran AAA_30 SbmA_BacA AAA_16 AAA_22 T2SSE DEAD IRK AAA_21 AAA_29 NACHT RsgA_GTPase AAA_23 AAA_7
Motif
Other DBs
NCBI-GeneID: 5826
NCBI-ProteinID: NP_005041
OMIM: 603214
HGNC: 68
Ensembl: ENSG00000119688
Vega: OTTHUMG00000171207
Pharos: O14678(Tbio)
UniProt: O14678 A0A024R6B9
Structure
PDB: 

Position
14q24.3
AA seq 606 aa AA seqDB search
MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQV
GLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLH
RLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQ
STGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYR
AGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGD
LSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQD
CEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLIT
GNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKE
VYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYL
QPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWEL
MRIKVE
NT seq 1821 nt NT seq  +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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