3.A.1.203.9
ABCD4, PMP70-related, P70R, PMP69 or PXMP1L of 606 aas. Forms homo- and heterodimers. May be involved in intracellular processing of vitamin B12 (cobalamin), possibly by playing a role in the lysosomal release of vitamin B12 into the
cytoplasm. Defects cause Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ), a disorder of cobalamin metabolism characterized by decreased levels of
the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) (Coelho et al. 2012). The amino treminal region determines the subcellular localization of this and other ABC
subfamily D proteins (Kashiwayama et al. 2009). Maybe involved in intracelluar processing of Vitamin D (Sakamoto et al. 2019).
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| Accession Number: | O14678 |
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| Protein Name: | ATP-binding cassette sub-family D member 4 |
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| Length: | 606 |
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| Molecular Weight: | 68597.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 5 |
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| Location1 / Topology2 / Orientation3: |
Peroxisome membrane1 / Multi-pass membrane protein2 |
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| Substrate |
cobalamin |
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1: MAVAGPAPGA GARPRLDLQF LQRFLQILKV LFPSWSSQNA LMFLTLLCLT LLEQFVIYQV
61: GLIPSQYYGV LGNKDLEGFK TLTFLAVMLI VLNSTLKSFD QFTCNLLYVS WRKDLTEHLH
121: RLYFRGRAYY TLNVLRDDID NPDQRISQDV ERFCRQLSSM ASKLIISPFT LVYYTYQCFQ
181: STGWLGPVSI FGYFILGTVV NKTLMGPIVM KLVHQEKLEG DFRFKHMQIR VNAEPAAFYR
241: AGHVEHMRTD RRLQRLLQTQ RELMSKELWL YIGINTFDYL GSILSYVVIA IPIFSGVYGD
301: LSPAELSTLV SKNAFVCIYL ISCFTQLIDL STTLSDVAGY THRIGQLRET LLDMSLKSQD
361: CEILGESEWG LDTPPGWPAA EPADTAFLLE RVSISAPSSD KPLIKDLSLK ISEGQSLLIT
421: GNTGTGKTSL LRVLGGLWTS TRGSVQMLTD FGPHGVLFLP QKPFFTDGTL REQVIYPLKE
481: VYPDSGSADD ERILRFLELA GLSNLVARTE GLDQQVDWNW YDVLSPGEMQ RLSFARLFYL
541: QPKYAVLDEA TSALTEEVES ELYRIGQQLG MTFISVGHRQ SLEKFHSLVL KLCGGGRWEL
601: MRIKVE