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O14678 (ABCD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family D member 4
Alternative name(s):
PMP70-related protein
Short name=P70R
Peroxisomal membrane protein 1-like
Short name=PXMP1-L
Peroxisomal membrane protein 69
Short name=PMP69
Gene names
Name:ABCD4
Synonyms:PXMP1L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length606 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm. Ref.8

Subunit structure

Homodimer or heterodimer Potential.

Subcellular location

Peroxisome membrane; Multi-pass membrane protein.

Tissue specificity

Ubiquitous.

Involvement in disease

Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. [View classification]

Contains 1 ABC transmembrane type-1 domain.

Contains 1 ABC transporter domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 606606ATP-binding cassette sub-family D member 4
PRO_0000093312

Regions

Transmembrane43 – 6321Helical; Potential
Transmembrane76 – 9621Helical; Potential
Transmembrane190 – 21021Helical; Potential
Transmembrane279 – 29921Helical; Potential
Transmembrane314 – 33421Helical; Potential
Domain39 – 332294ABC transmembrane type-1
Domain389 – 603215ABC transporter
Nucleotide binding421 – 4288ATP Potential

Natural variations

Natural variant1721V → I.
Corresponds to variant rs34992370 [ dbSNP | Ensembl ].
VAR_048134
Natural variant3041A → T. Ref.4 Ref.6 Ref.7 Ref.9
Corresponds to variant rs4148077 [ dbSNP | Ensembl ].
VAR_020778
Natural variant3191Y → C in MAHCJ. Ref.8
Corresponds to variant rs201777056 [ dbSNP | Ensembl ].
VAR_069097
Natural variant3501T → R.
Corresponds to variant rs35073715 [ dbSNP | Ensembl ].
VAR_048135
Natural variant3681E → K. Ref.4 Ref.6 Ref.7 Ref.9
Corresponds to variant rs3742801 [ dbSNP | Ensembl ].
VAR_020222

Experimental info

Sequence conflict5941G → V in BAF84021. Ref.5
Sequence conflict6061E → D in CAG33385. Ref.6

Sequences

Sequence LengthMass (Da)Tools
O14678 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 2D88DEFED0EA0777

FASTA60668,597
        10         20         30         40         50         60 
MAVAGPAPGA GARPRLDLQF LQRFLQILKV LFPSWSSQNA LMFLTLLCLT LLEQFVIYQV 

        70         80         90        100        110        120 
GLIPSQYYGV LGNKDLEGFK TLTFLAVMLI VLNSTLKSFD QFTCNLLYVS WRKDLTEHLH 

       130        140        150        160        170        180 
RLYFRGRAYY TLNVLRDDID NPDQRISQDV ERFCRQLSSM ASKLIISPFT LVYYTYQCFQ 

       190        200        210        220        230        240 
STGWLGPVSI FGYFILGTVV NKTLMGPIVM KLVHQEKLEG DFRFKHMQIR VNAEPAAFYR 

       250        260        270        280        290        300 
AGHVEHMRTD RRLQRLLQTQ RELMSKELWL YIGINTFDYL GSILSYVVIA IPIFSGVYGD 

       310        320        330        340        350        360 
LSPAELSTLV SKNAFVCIYL ISCFTQLIDL STTLSDVAGY THRIGQLRET LLDMSLKSQD 

       370        380        390        400        410        420 
CEILGESEWG LDTPPGWPAA EPADTAFLLE RVSISAPSSD KPLIKDLSLK ISEGQSLLIT 

       430        440        450        460        470        480 
GNTGTGKTSL LRVLGGLWTS TRGSVQMLTD FGPHGVLFLP QKPFFTDGTL REQVIYPLKE 

       490        500        510        520        530        540 
VYPDSGSADD ERILRFLELA GLSNLVARTE GLDQQVDWNW YDVLSPGEMQ RLSFARLFYL 

       550        560        570        580        590        600 
QPKYAVLDEA TSALTEEVES ELYRIGQQLG MTFISVGHRQ SLEKFHSLVL KLCGGGRWEL 


MRIKVE 

« Hide

References

« Hide 'large scale' references
[1]"Primary structure of human PMP69, a putative peroxisomal ABC-transporter."
Holzinger A., Kammerer S., Roscher A.A.
Biochem. Biophys. Res. Commun. 237:152-157(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter."
Holzinger A., Roscher A.A., Landgraf P., Lichtner P., Kammerer S.
FEBS Lett. 426:238-242(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]"Identification of a fourth half ABC transporter in the human peroxisomal membrane."
Shani N., Jimenez-Sanchez G., Steel G., Dean M., Valle D.
Hum. Mol. Genet. 6:1925-1931(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-304 AND LYS-368.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Tongue.
[6]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-304 AND LYS-368.
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-304 AND LYS-368.
Tissue: Muscle.
[8]"Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism."
Coelho D., Kim J.C., Miousse I.R., Fung S., du Moulin M., Buers I., Suormala T., Burda P., Frapolli M., Stucki M., Nurnberg P., Thiele H., Robenek H., Hohne W., Longo N., Pasquali M., Mengel E., Watkins D. expand/collapse author list , Shoubridge E.A., Majewski J., Rosenblatt D.S., Fowler B., Rutsch F., Baumgartner M.R.
Nat. Genet. 44:1152-1155(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT MAHCJ CYS-319.
[9]"Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8."
Iida A., Saito S., Sekine A., Mishima C., Kitamura Y., Kondo K., Harigae S., Osawa S., Nakamura Y.
J. Hum. Genet. 47:285-310(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS THR-304 AND LYS-368.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y14318 expand/collapse EMBL AC list , Y14319, Y14320, Y14321, Y14322, Y14323 Genomic DNA. Translation: CAA74699.1.
AF009746 mRNA. Translation: AAB83967.1.
BT007412 mRNA. Translation: AAP36080.1.
AK291332 mRNA. Translation: BAF84021.1.
CR457104 mRNA. Translation: CAG33385.1.
BC012815 mRNA. Translation: AAH12815.1.
PIRJC5604.
RefSeqNP_005041.1. NM_005050.3.
UniGeneHs.94395.

3D structure databases

ProteinModelPortalO14678.
SMRO14678. Positions 80-124, 274-595.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111784. 4 interactions.
IntActO14678. 4 interactions.
STRING9606.ENSP00000349396.

Protein family/group databases

TCDB3.A.1.203.9. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteO14678.

Proteomic databases

PaxDbO14678.
PRIDEO14678.

Protocols and materials databases

DNASU5826.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356924; ENSP00000349396; ENSG00000119688.
GeneID5826.
KEGGhsa:5826.
UCSCuc001xpr.2. human.

Organism-specific databases

CTD5826.
GeneCardsGC14M074751.
HGNCHGNC:68. ABCD4.
HPAHPA003396.
MIM603214. gene.
614857. phenotype.
neXtProtNX_O14678.
Orphanet369955. Methylmalonic acidemia with homocystinuria, type cblJ.
PharmGKBPA24403.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4178.
HOGENOMHOG000007546.
HOVERGENHBG106060.
InParanoidO14678.
KOK05678.
OMAISCFTQL.
OrthoDBEOG72RMXS.
PhylomeDBO14678.
TreeFamTF105205.

Gene expression databases

ArrayExpressO14678.
BgeeO14678.
CleanExHS_ABCD4.
GenevestigatorO14678.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR010509. ABC_Peroxi_TM.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF06472. ABC_membrane_2. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABCD4. human.
GeneWikiABCD4.
GenomeRNAi5826.
NextBio22693.
PROO14678.
SOURCESearch...

Entry information

Entry nameABCD4_HUMAN
AccessionPrimary (citable) accession number: O14678
Secondary accession number(s): A8K5L7, Q6IAQ0, Q96E75
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM