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Q9H172

- ABCG4_HUMAN

UniProt

Q9H172 - ABCG4_HUMAN

Protein

ATP-binding cassette sub-family G member 4

Gene

ABCG4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (05 Dec 2001)
      Previous versions | rss
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    Functioni

    May be involved in macrophage lipid homeostasis.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi102 – 1098ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity Source: InterPro
    2. ATP binding Source: UniProtKB-KW
    3. cholesterol transporter activity Source: Reactome
    4. protein binding Source: IntAct
    5. protein heterodimerization activity Source: BHF-UCL
    6. protein homodimerization activity Source: BHF-UCL

    GO - Biological processi

    1. cholesterol efflux Source: BHF-UCL
    2. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.

    Protein family/group databases

    TCDBi3.A.1.204.20. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family G member 4
    Gene namesi
    Name:ABCG4
    Synonyms:WHITE2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:13884. ABCG4.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24410.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 646646ATP-binding cassette sub-family G member 4PRO_0000093392Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi422 – 4221N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9H172.
    PRIDEiQ9H172.

    PTM databases

    PhosphoSiteiQ9H172.

    Expressioni

    Tissue specificityi

    Highly expressed in brain tissues with the exception of the spinal cord.1 Publication

    Gene expression databases

    ArrayExpressiQ9H172.
    BgeeiQ9H172.
    CleanExiHS_ABCG4.
    GenevestigatoriQ9H172.

    Organism-specific databases

    HPAiHPA040312.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ABCG1P45844-42EBI-8584118,EBI-8584087

    Protein-protein interaction databases

    IntActiQ9H172. 2 interactions.
    MINTiMINT-2840344.
    STRINGi9606.ENSP00000304111.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H172.
    SMRiQ9H172. Positions 52-331.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 393393CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini415 – 42511ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini447 – 47226CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini494 – 50310ExtracellularSequence Analysis
    Topological domaini525 – 5328CytoplasmicSequence Analysis
    Topological domaini554 – 61764ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini639 – 6468CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei394 – 41421Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei426 – 44621Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei473 – 49321Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei504 – 52421Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei533 – 55321Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei618 – 63821Helical; Name=6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini61 – 301241ABC transporterPROSITE-ProRule annotationAdd
    BLAST
    Domaini386 – 641256ABC transmembrane type-2Add
    BLAST

    Sequence similaritiesi

    Contains 1 ABC transporter domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1131.
    HOGENOMiHOG000236364.
    HOVERGENiHBG103052.
    InParanoidiQ9H172.
    KOiK05680.
    OMAiCLEEHCP.
    OrthoDBiEOG7KWSGT.
    PhylomeDBiQ9H172.
    TreeFamiTF105210.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR013525. ABC_2_trans.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF01061. ABC2_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view]
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H172-1) [UniParc]FASTAAdd to Basket

    Also known as: B

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAEKALEAVG CGLGPGAVAM AVTLEDGAEP PVLTTHLKKV ENHITEAQRF    50
    SHLPKRSAVD IEFVELSYSV REGPCWRKRG YKTLLKCLSG KFCRRELIGI 100
    MGPSGAGKST FMNILAGYRE SGMKGQILVN GRPRELRTFR KMSCYIMQDD 150
    MLLPHLTVLE AMMVSANLKL SEKQEVKKEL VTEILTALGL MSCSHTRTAL 200
    LSGGQRKRLA IALELVNNPP VMFFDEPTSG LDSASCFQVV SLMKSLAQGG 250
    RTIICTIHQP SAKLFEMFDK LYILSQGQCI FKGVVTNLIP YLKGLGLHCP 300
    TYHNPADFII EVASGEYGDL NPMLFRAVQN GLCAMAEKKS SPEKNEVPAP 350
    CPPCPPEVDP IESHTFATST LTQFCILFKR TFLSILRDTV LTHLRFMSHV 400
    VIGVLIGLLY LHIGDDASKV FNNTGCLFFS MLFLMFAALM PTVLTFPLEM 450
    AVFMREHLNY WYSLKAYYLA KTMADVPFQV VCPVVYCSIV YWMTGQPAET 500
    SRFLLFSALA TATALVAQSL GLLIGAASNS LQVATFVGPV TAIPVLLFSG 550
    FFVSFKTIPT YLQWSSYLSY VRYGFEGVIL TIYGMERGDL TCLEERCPFR 600
    EPQSILRALD VEDAKLYMDF LVLGIFFLAL RLLAYLVLRY RVKSER 646
    Length:646
    Mass (Da):71,896
    Last modified:December 5, 2001 - v2
    Checksum:i9CCEC6E150772611
    GO
    Isoform 2 (identifier: Q9H172-2) [UniParc]FASTAAdd to Basket

    Also known as: T3, T4

    The sequence of this isoform differs from the canonical sequence as follows:
         1-79: MAEKALEAVG...VREGPCWRKR → MRDLELREVKQLARGHTA

    Show »
    Length:585
    Mass (Da):65,389
    Checksum:iD5F84C0CCADAB9A3
    GO
    Isoform 3 (identifier: Q9H172-3) [UniParc]FASTAAdd to Basket

    Also known as: M, T1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-79: MAEKALEAVG...VREGPCWRKR → MCGFSHAFQKRIVAS

    Show »
    Length:582
    Mass (Da):64,948
    Checksum:iAA379CF6C876A9EE
    GO
    Isoform 4 (identifier: Q9H172-4) [UniParc]FASTAAdd to Basket

    Also known as: T2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-100: Missing.

    Show »
    Length:546
    Mass (Da):60,903
    Checksum:iBCDB4BCAA06C46B3
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti352 – 3521P → L.
    Corresponds to variant rs35060365 [ dbSNP | Ensembl ].
    VAR_048141

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 100100Missing in isoform 4. 1 PublicationVSP_054266Add
    BLAST
    Alternative sequencei1 – 7979MAEKA…CWRKR → MRDLELREVKQLARGHTA in isoform 2. 1 PublicationVSP_054267Add
    BLAST
    Alternative sequencei1 – 7979MAEKA…CWRKR → MCGFSHAFQKRIVAS in isoform 3. 1 PublicationVSP_054268Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ308237 mRNA. Translation: CAC87131.1.
    AK289830 mRNA. Translation: BAF82519.1.
    AK290035 mRNA. Translation: BAF82724.1.
    CH471065 Genomic DNA. Translation: EAW67464.1.
    CH471065 Genomic DNA. Translation: EAW67465.1.
    CH471065 Genomic DNA. Translation: EAW67466.1.
    BC041091 mRNA. Translation: AAH41091.1.
    AY055472 Genomic DNA. Translation: AAL16400.1.
    AY055472 Genomic DNA. Translation: AAL16401.1.
    AY055472 Genomic DNA. Translation: AAL16402.1.
    AJ300465 mRNA. Translation: CAC17140.1.
    CCDSiCCDS8415.1. [Q9H172-1]
    PIRiJC7777.
    RefSeqiNP_001135977.1. NM_001142505.1. [Q9H172-1]
    NP_071452.2. NM_022169.4. [Q9H172-1]
    UniGeneiHs.126378.

    Genome annotation databases

    EnsembliENST00000307417; ENSP00000304111; ENSG00000172350.
    ENST00000449422; ENSP00000406874; ENSG00000172350.
    ENST00000531739; ENSP00000434318; ENSG00000172350.
    GeneIDi64137.
    KEGGihsa:64137.
    UCSCiuc001pvs.3. human. [Q9H172-1]

    Polymorphism databases

    DMDMi17432915.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ308237 mRNA. Translation: CAC87131.1 .
    AK289830 mRNA. Translation: BAF82519.1 .
    AK290035 mRNA. Translation: BAF82724.1 .
    CH471065 Genomic DNA. Translation: EAW67464.1 .
    CH471065 Genomic DNA. Translation: EAW67465.1 .
    CH471065 Genomic DNA. Translation: EAW67466.1 .
    BC041091 mRNA. Translation: AAH41091.1 .
    AY055472 Genomic DNA. Translation: AAL16400.1 .
    AY055472 Genomic DNA. Translation: AAL16401.1 .
    AY055472 Genomic DNA. Translation: AAL16402.1 .
    AJ300465 mRNA. Translation: CAC17140.1 .
    CCDSi CCDS8415.1. [Q9H172-1 ]
    PIRi JC7777.
    RefSeqi NP_001135977.1. NM_001142505.1. [Q9H172-1 ]
    NP_071452.2. NM_022169.4. [Q9H172-1 ]
    UniGenei Hs.126378.

    3D structure databases

    ProteinModelPortali Q9H172.
    SMRi Q9H172. Positions 52-331.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9H172. 2 interactions.
    MINTi MINT-2840344.
    STRINGi 9606.ENSP00000304111.

    Protein family/group databases

    TCDBi 3.A.1.204.20. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q9H172.

    Polymorphism databases

    DMDMi 17432915.

    Proteomic databases

    PaxDbi Q9H172.
    PRIDEi Q9H172.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000307417 ; ENSP00000304111 ; ENSG00000172350 .
    ENST00000449422 ; ENSP00000406874 ; ENSG00000172350 .
    ENST00000531739 ; ENSP00000434318 ; ENSG00000172350 .
    GeneIDi 64137.
    KEGGi hsa:64137.
    UCSCi uc001pvs.3. human. [Q9H172-1 ]

    Organism-specific databases

    CTDi 64137.
    GeneCardsi GC11P119019.
    HGNCi HGNC:13884. ABCG4.
    HPAi HPA040312.
    MIMi 607784. gene.
    neXtProti NX_Q9H172.
    PharmGKBi PA24410.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1131.
    HOGENOMi HOG000236364.
    HOVERGENi HBG103052.
    InParanoidi Q9H172.
    KOi K05680.
    OMAi CLEEHCP.
    OrthoDBi EOG7KWSGT.
    PhylomeDBi Q9H172.
    TreeFami TF105210.

    Enzyme and pathway databases

    Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

    Miscellaneous databases

    GeneWikii ABCG4.
    GenomeRNAii 64137.
    NextBioi 66038.
    PROi Q9H172.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H172.
    Bgeei Q9H172.
    CleanExi HS_ABCG4.
    Genevestigatori Q9H172.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR013525. ABC_2_trans.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF01061. ABC2_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    PROSITEi PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages."
      Engel T., Lorkowski S., Lueken A., Rust S., Schlueter B., Berger G., Cullen P., Assmann G.
      Biochem. Biophys. Res. Commun. 288:483-488(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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] (ISOFORM 1).
      Tissue: Brain and Hippocampus.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 1).
      Tissue: Brain.
    5. "Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4."
      Annilo T., Tammur J., Hutchinson A., Rzhetsky A., Dean M., Allikmets R.
      Cytogenet. Cell Genet. 94:196-201(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-118 (ISOFORMS 2; 3 AND 4), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
      Tissue: Lung.
    6. "ABCG4: a novel human white family ABC-transporter expressed in the brain and eye."
      Oldfield S., Lowry C., Ruddick J., Lightman S.
      Biochim. Biophys. Acta 1591:175-179(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-646 (ISOFORM 1).
      Tissue: Spinal ganglion.

    Entry informationi

    Entry nameiABCG4_HUMAN
    AccessioniPrimary (citable) accession number: Q9H172
    Secondary accession number(s): A8K1B5
    , Q8WWH0, Q8WWH1, Q8WWH2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 5, 2001
    Last sequence update: December 5, 2001
    Last modified: October 1, 2014
    This is version 117 of the entry and version 2 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 11
      Human chromosome 11: 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