Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

ATP-binding cassette sub-family D member 4

Gene

ABCD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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: UniProtKB
  • ATP binding Source: UniProtKB

GO - Biological processi

  • cobalamin metabolic process Source: UniProtKB
  • transmembrane transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000119688-MONOMER.
ReactomeiR-HSA-196741. Cobalamin (Cbl, vitamin B12) transport and metabolism.

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

HGNCiHGNC:68. ABCD4.

Subcellular locationi

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

GO - Cellular componenti

  • ATP-binding cassette (ABC) transporter complex Source: UniProtKB
  • endoplasmic reticulum membrane Source: Ensembl
  • integral component of membrane Source: UniProtKB
  • lysosomal membrane Source: Reactome
  • peroxisomal membrane Source: UniProtKB-SubCell
  • peroxisome Source: UniProtKB
Complete GO annotation...

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 rs201777056dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5826.
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

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. 13 interactors.
IntActiO14678. 4 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

Contains 1 ABC transmembrane type-1 domain.PROSITE-ProRule annotation
Contains 1 ABC transporter domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF06472. ABC_membrane_2. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]

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 rs34992370dbSNPEnsembl.1
Natural variantiVAR_020778304A → T.4 PublicationsCorresponds to variant rs4148077dbSNPEnsembl.1
Natural variantiVAR_069097319Y → C in MAHCJ. 1 PublicationCorresponds to variant rs201777056dbSNPEnsembl.1
Natural variantiVAR_048135350T → R.Corresponds to variant rs35073715dbSNPEnsembl.1
Natural variantiVAR_020222368E → K.4 PublicationsCorresponds to variant rs3742801dbSNPEnsembl.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

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

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.

3D structure databases

ProteinModelPortaliO14678.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111784. 13 interactors.
IntActiO14678. 4 interactors.
STRINGi9606.ENSP00000349396.

Protein family/group databases

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

PTM databases

iPTMnetiO14678.
PhosphoSitePlusiO14678.

Polymorphism and mutation databases

BioMutaiABCD4.

Proteomic databases

MaxQBiO14678.
PaxDbiO14678.
PeptideAtlasiO14678.
PRIDEiO14678.

Protocols and materials databases

DNASUi5826.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5826.
DisGeNETi5826.
GeneCardsiABCD4.
GeneReviewsiABCD4.
HGNCiHGNC:68. ABCD4.
HPAiHPA003396.
MalaCardsiABCD4.
MIMi603214. gene.
614857. phenotype.
neXtProtiNX_O14678.
OpenTargetsiENSG00000119688.
Orphaneti369955. Methylmalonic acidemia with homocystinuria, type cblJ.
PharmGKBiPA24403.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000119688-MONOMER.
ReactomeiR-HSA-196741. Cobalamin (Cbl, vitamin B12) transport and metabolism.

Miscellaneous databases

ChiTaRSiABCD4. human.
GeneWikiiABCD4.
GenomeRNAii5826.
PROiO14678.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119688.
CleanExiHS_ABCD4.
ExpressionAtlasiO14678. baseline and differential.
GenevisibleiO14678. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF06472. ABC_membrane_2. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCD4_HUMAN
AccessioniPrimary (citable) accession number: O14678
Secondary accession number(s): A8K5L7, Q6IAQ0, Q96E75
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: November 30, 2016
This is version 152 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.