KEGG   Homo sapiens (human): 55788
Entry
55788             CDS       T01001                                 
Symbol
LMBRD1, C6orf209, LMBD1, MAHCF, NESI
Name
(RefSeq) LMBR1 domain containing 1
  KO
K14617  LMBR1 domain-containing protein 1
Organism
hsa  Homo sapiens (human)
Pathway
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]
 09150 Organismal Systems
  09154 Digestive system
   04977 Vitamin digestion and absorption
    55788 (LMBRD1)
   04980 Cobalamin transport and metabolism
    55788 (LMBRD1)
SSDB
Motif
Pfam: LMBR1 EptA_B_N Wbp11 TRAPPC-Trs85 TadE
Other DBs
NCBI-GeneID: 55788
NCBI-ProteinID: NP_060838
OMIM: 612625
HGNC: 23038
Ensembl: ENSG00000168216
UniProt: Q9NUN5
LinkDB
Position
6:complement(69674010..69797010)
AA seq 540 aa
MATSGAASAELVIGWCIFGLLLLAILAFCWIYVRKYQSRRESEVVSTITAIFSLAIALIT
SALLPVDIFLVSYMKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVY
FYYEEKDDDDTSKCTQIKTALKYTLGFVVICALLLLVGAFVPLNVPNNKNSTEWEKVKSL
FEELGSSHGLAALSFSISSLTLIGMLAAITYTAYGMSALPLNLIKGTRSAAYERLENTED
IEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGA
LRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSNPLNMLLPLLQ
TVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLI
VLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRT
YLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA
NT seq 1623 nt   +upstreamnt  +downstreamnt
atggcgacttctggcgcggcctcggcggagctggtgatcggctggtgcatattcggcctc
ttactactggctattttggcattctgctggatatatgttcgtaaataccaaagtcggcgg
gaaagtgaagttgtctccaccataacagcaattttttctctagcaattgcacttatcaca
tcagcacttctaccagtggatatatttttggtttcttacatgaaaaatcaaaatggtaca
tttaaggactgggctaatgctaatgtcagcagacagattgaggacactgtattatacggt
tactatactttatattctgttatattgttctgtgtgttcttctggatcccttttgtctac
ttctattatgaagaaaaggatgatgatgatactagtaaatgtactcaaattaaaacggca
ctcaagtatactttgggatttgttgtgatttgtgcactgcttcttttagttggtgccttt
gttccattgaatgttcccaataacaaaaattctacagagtgggaaaaagtgaagtcccta
tttgaagaacttggaagtagtcatggtttagctgcattgtcattttctatcagttctctg
accttgattggaatgttggcagctataacttacacagcctatggcatgtctgcgttacct
ttaaatctgataaaaggcactagaagcgctgcttatgaacgtttggaaaacactgaagac
attgaagaagtagaacaacacattcaaacgattaaatcaaaaagcaaagatggtcgacct
ttgccagcaagggataaacgcgccttaaaacaatttgaagaaaggttacgaacacttaag
aagagagagaggcatttagaattcattgaaaacagctggtggacaaaattttgtggcgct
ctgcgtcccctgaagatcgtctggggaatatttttcatcttagttgcattgctgtttgta
atttctctcttcttgtcaaatttagataaagctcttcattcagctggaatagattctggt
ttcataatttttggagctaacctgagtaatccactgaatatgcttttgcctttactacaa
acagttttccctcttgattatattcttataacaattattattatgtactttatttttact
tcaatggcaggaattcgaaatattggcatatggttcttttggattagattatataaaatc
agaagaggtagaaccaggccccaagcactcctttttctctgcatgatacttctgcttatt
gtccttcacactagctacatgatttatagtcttgctccccaatatgttatgtatggaagc
caaaattacttaatagagactaatataacttctgataatcataaaggcaattcaaccctt
tctgtgccaaagagatgtgatgcagatgctcctgaagatcagtgtactgttacccggaca
tacctattccttcacaagttctggttcttcagtgctgcttactattttggtaactgggcc
tttcttggggtatttttgattggattaattgtatcctgttgtaaagggaagaaatcggtt
attgaaggagtagatgaagattcagacataagtgatgatgagccctctgtctattctgct
tga

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
LinkDB
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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