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Protein

ATP-binding cassette sub-family D member 4

Gene

ABCD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi421 – 428ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: Reactome
  • ATP binding Source: UniProtKB

GO - Biological processi

  • cellular response to leukemia inhibitory factor Source: Ensembl
  • cobalamin metabolic process Source: UniProtKB
  • transmembrane transport Source: UniProtKB

Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-5683329 Defective ABCD4 causes methylmalonic aciduria and homocystinuria, cblj type (MAHCJ)

Protein family/group databases

TCDBi3.A.1.203.9 the atp-binding cassette (abc) superfamily

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:ABCD4
Synonyms:PXMP1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000119688.20
HGNCiHGNC:68 ABCD4
MIMi603214 gene
neXtProtiNX_O14678

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei43 – 63HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei76 – 96HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei190 – 210HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei279 – 299HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei314 – 334HelicalPROSITE-ProRule annotationAdd BLAST21

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614857
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069097319Y → C in MAHCJ. 1 PublicationCorresponds to variant dbSNP:rs201777056Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5826
GeneReviewsiABCD4
MalaCardsiABCD4
MIMi614857 phenotype
OpenTargetsiENSG00000119688
Orphaneti369955 Methylmalonic acidemia with homocystinuria, type cblJ
PharmGKBiPA24403

Polymorphism and mutation databases

BioMutaiABCD4

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933121 – 606ATP-binding cassette sub-family D member 4Add BLAST606

Proteomic databases

EPDiO14678
MaxQBiO14678
PaxDbiO14678
PeptideAtlasiO14678
PRIDEiO14678

PTM databases

iPTMnetiO14678
PhosphoSitePlusiO14678

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000119688
CleanExiHS_ABCD4
ExpressionAtlasiO14678 baseline and differential
GenevisibleiO14678 HS

Organism-specific databases

HPAiHPA003396

Interactioni

Subunit structurei

Homodimer or heterodimer.Curated

Protein-protein interaction databases

BioGridi111784, 22 interactors
IntActiO14678, 5 interactors
STRINGi9606.ENSP00000349396

Structurei

3D structure databases

ProteinModelPortaliO14678
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini39 – 332ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST294
Domaini389 – 603ABC transporterPROSITE-ProRule annotationAdd BLAST215

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0060 Eukaryota
COG4178 LUCA
GeneTreeiENSGT00390000003950
HOGENOMiHOG000007546
HOVERGENiHBG106060
InParanoidiO14678
KOiK05678
OMAiHMRTDRR
OrthoDBiEOG091G03HJ
PhylomeDBiO14678
TreeFamiTF105205

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF06472 ABC_membrane_2, 1 hit
PF00005 ABC_tran, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
SSF90123 SSF90123, 1 hit
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

Sequencei

Sequence statusi: Complete.

O14678-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAVAGPAPGA GARPRLDLQF LQRFLQILKV LFPSWSSQNA LMFLTLLCLT
60 70 80 90 100
LLEQFVIYQV GLIPSQYYGV LGNKDLEGFK TLTFLAVMLI VLNSTLKSFD
110 120 130 140 150
QFTCNLLYVS WRKDLTEHLH RLYFRGRAYY TLNVLRDDID NPDQRISQDV
160 170 180 190 200
ERFCRQLSSM ASKLIISPFT LVYYTYQCFQ STGWLGPVSI FGYFILGTVV
210 220 230 240 250
NKTLMGPIVM KLVHQEKLEG DFRFKHMQIR VNAEPAAFYR AGHVEHMRTD
260 270 280 290 300
RRLQRLLQTQ RELMSKELWL YIGINTFDYL GSILSYVVIA IPIFSGVYGD
310 320 330 340 350
LSPAELSTLV SKNAFVCIYL ISCFTQLIDL STTLSDVAGY THRIGQLRET
360 370 380 390 400
LLDMSLKSQD CEILGESEWG LDTPPGWPAA EPADTAFLLE RVSISAPSSD
410 420 430 440 450
KPLIKDLSLK ISEGQSLLIT GNTGTGKTSL LRVLGGLWTS TRGSVQMLTD
460 470 480 490 500
FGPHGVLFLP QKPFFTDGTL REQVIYPLKE VYPDSGSADD ERILRFLELA
510 520 530 540 550
GLSNLVARTE GLDQQVDWNW YDVLSPGEMQ RLSFARLFYL QPKYAVLDEA
560 570 580 590 600
TSALTEEVES ELYRIGQQLG MTFISVGHRQ SLEKFHSLVL KLCGGGRWEL

MRIKVE
Length:606
Mass (Da):68,597
Last modified:January 1, 1998 - v1
Checksum:i2D88DEFED0EA0777
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti594G → V in BAF84021 (PubMed:14702039).Curated1
Sequence conflicti606E → D in CAG33385 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048134172V → I. Corresponds to variant dbSNP:rs34992370Ensembl.1
Natural variantiVAR_020778304A → T4 PublicationsCorresponds to variant dbSNP:rs4148077Ensembl.1
Natural variantiVAR_069097319Y → C in MAHCJ. 1 PublicationCorresponds to variant dbSNP:rs201777056Ensembl.1
Natural variantiVAR_048135350T → R. Corresponds to variant dbSNP:rs35073715Ensembl.1
Natural variantiVAR_020222368E → K4 PublicationsCorresponds to variant dbSNP:rs3742801Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y14318
, 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
CCDSiCCDS9828.1
PIRiJC5604
RefSeqiNP_005041.1, NM_005050.3
UniGeneiHs.94395

Genome annotation databases

EnsembliENST00000356924; ENSP00000349396; ENSG00000119688
GeneIDi5826
KEGGihsa:5826
UCSCiuc001xpr.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiABCD4_HUMAN
AccessioniPrimary (citable) accession number: O14678
Secondary accession number(s): A8K5L7, Q6IAQ0, Q96E75
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: March 28, 2018
This is version 163 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health