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O14678

- ABCD4_HUMAN

UniProt

O14678 - ABCD4_HUMAN

Protein

ATP-binding cassette sub-family D member 4

Gene

ABCD4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi421 – 4288ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity, coupled to transmembrane movement of substances Source: UniProtKB
    2. ATP binding Source: UniProtKB

    GO - Biological processi

    1. cobalamin metabolic process Source: UniProtKB
    2. transmembrane transport Source: UniProtKB

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    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
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:68. ABCD4.

    Subcellular locationi

    GO - Cellular componenti

    1. ATP-binding cassette (ABC) transporter complex Source: UniProtKB
    2. endoplasmic reticulum membrane Source: Ensembl
    3. integral component of membrane Source: UniProtKB
    4. peroxisomal membrane Source: UniProtKB-SubCell
    5. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti319 – 3191Y → C in MAHCJ. 1 Publication
    Corresponds to variant rs201777056 [ dbSNP | Ensembl ].
    VAR_069097

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614857. phenotype.
    Orphaneti369955. Methylmalonic acidemia with homocystinuria, type cblJ.
    PharmGKBiPA24403.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 606606ATP-binding cassette sub-family D member 4PRO_0000093312Add
    BLAST

    Proteomic databases

    MaxQBiO14678.
    PaxDbiO14678.
    PRIDEiO14678.

    PTM databases

    PhosphoSiteiO14678.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiO14678.
    BgeeiO14678.
    CleanExiHS_ABCD4.
    GenevestigatoriO14678.

    Organism-specific databases

    HPAiHPA003396.

    Interactioni

    Subunit structurei

    Homodimer or heterodimer.Curated

    Protein-protein interaction databases

    BioGridi111784. 4 interactions.
    IntActiO14678. 4 interactions.
    STRINGi9606.ENSP00000349396.

    Structurei

    3D structure databases

    ProteinModelPortaliO14678.
    SMRiO14678. Positions 274-595.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei43 – 6321HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei76 – 9621HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei190 – 21021HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei279 – 29921HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei314 – 33421HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini39 – 332294ABC transmembrane type-1PROSITE-ProRule annotationAdd
    BLAST
    Domaini389 – 603215ABC transporterPROSITE-ProRule annotationAdd
    BLAST

    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

    eggNOGiCOG4178.
    HOGENOMiHOG000007546.
    HOVERGENiHBG106060.
    InParanoidiO14678.
    KOiK05678.
    OMAiGGRWELS.
    OrthoDBiEOG72RMXS.
    PhylomeDBiO14678.
    TreeFamiTF105205.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR010509. ABC_Peroxi_TM.
    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

    MAVAGPAPGA GARPRLDLQF LQRFLQILKV LFPSWSSQNA LMFLTLLCLT    50
    LLEQFVIYQV GLIPSQYYGV LGNKDLEGFK TLTFLAVMLI VLNSTLKSFD 100
    QFTCNLLYVS WRKDLTEHLH RLYFRGRAYY TLNVLRDDID NPDQRISQDV 150
    ERFCRQLSSM ASKLIISPFT LVYYTYQCFQ STGWLGPVSI FGYFILGTVV 200
    NKTLMGPIVM KLVHQEKLEG DFRFKHMQIR VNAEPAAFYR AGHVEHMRTD 250
    RRLQRLLQTQ RELMSKELWL YIGINTFDYL GSILSYVVIA IPIFSGVYGD 300
    LSPAELSTLV SKNAFVCIYL ISCFTQLIDL STTLSDVAGY THRIGQLRET 350
    LLDMSLKSQD CEILGESEWG LDTPPGWPAA EPADTAFLLE RVSISAPSSD 400
    KPLIKDLSLK ISEGQSLLIT GNTGTGKTSL LRVLGGLWTS TRGSVQMLTD 450
    FGPHGVLFLP QKPFFTDGTL REQVIYPLKE VYPDSGSADD ERILRFLELA 500
    GLSNLVARTE GLDQQVDWNW YDVLSPGEMQ RLSFARLFYL QPKYAVLDEA 550
    TSALTEEVES ELYRIGQQLG MTFISVGHRQ SLEKFHSLVL KLCGGGRWEL 600
    MRIKVE 606
    Length:606
    Mass (Da):68,597
    Last modified:January 1, 1998 - v1
    Checksum:i2D88DEFED0EA0777
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti594 – 5941G → V in BAF84021. (PubMed:14702039)Curated
    Sequence conflicti606 – 6061E → D in CAG33385. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti172 – 1721V → I.
    Corresponds to variant rs34992370 [ dbSNP | Ensembl ].
    VAR_048134
    Natural varianti304 – 3041A → T.4 Publications
    Corresponds to variant rs4148077 [ dbSNP | Ensembl ].
    VAR_020778
    Natural varianti319 – 3191Y → C in MAHCJ. 1 Publication
    Corresponds to variant rs201777056 [ dbSNP | Ensembl ].
    VAR_069097
    Natural varianti350 – 3501T → R.
    Corresponds to variant rs35073715 [ dbSNP | Ensembl ].
    VAR_048135
    Natural varianti368 – 3681E → K.4 Publications
    Corresponds to variant rs3742801 [ dbSNP | Ensembl ].
    VAR_020222

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS9828.1.
    PIRi JC5604.
    RefSeqi NP_005041.1. NM_005050.3.
    UniGenei Hs.94395.

    3D structure databases

    ProteinModelPortali O14678.
    SMRi O14678. Positions 274-595.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111784. 4 interactions.
    IntActi O14678. 4 interactions.
    STRINGi 9606.ENSP00000349396.

    Protein family/group databases

    TCDBi 3.A.1.203.9. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei O14678.

    Proteomic databases

    MaxQBi O14678.
    PaxDbi O14678.
    PRIDEi O14678.

    Protocols and materials databases

    DNASUi 5826.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000356924 ; ENSP00000349396 ; ENSG00000119688 .
    GeneIDi 5826.
    KEGGi hsa:5826.
    UCSCi uc001xpr.2. human.

    Organism-specific databases

    CTDi 5826.
    GeneCardsi GC14M074751.
    GeneReviewsi ABCD4.
    HGNCi HGNC:68. ABCD4.
    HPAi HPA003396.
    MIMi 603214. gene.
    614857. phenotype.
    neXtProti NX_O14678.
    Orphaneti 369955. Methylmalonic acidemia with homocystinuria, type cblJ.
    PharmGKBi PA24403.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4178.
    HOGENOMi HOG000007546.
    HOVERGENi HBG106060.
    InParanoidi O14678.
    KOi K05678.
    OMAi GGRWELS.
    OrthoDBi EOG72RMXS.
    PhylomeDBi O14678.
    TreeFami TF105205.

    Miscellaneous databases

    ChiTaRSi ABCD4. human.
    GeneWikii ABCD4.
    GenomeRNAii 5826.
    NextBioi 22693.
    PROi O14678.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14678.
    Bgeei O14678.
    CleanExi HS_ABCD4.
    Genevestigatori O14678.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR010509. ABC_Peroxi_TM.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF06472. ABC_membrane_2. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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.

    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: October 1, 2014
    This is version 130 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

    External Data

    Dasty 3