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Q99758

- ABCA3_HUMAN

UniProt

Q99758 - ABCA3_HUMAN

Protein

ATP-binding cassette sub-family A member 3

Gene

ABCA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 2 (24 Jan 2006)
      Previous versions | rss
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    Functioni

    Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi566 – 5738ATP 1PROSITE-ProRule annotation
    Nucleotide bindingi1416 – 14238ATP 2PROSITE-ProRule annotation

    GO - Molecular functioni

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

    GO - Biological processi

    1. response to drug Source: ProtInc
    2. response to glucocorticoid Source: Ensembl
    3. transmembrane transport Source: Reactome
    4. transport Source: MGI

    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.1.211.5. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family A member 3
    Alternative name(s):
    ABC-C transporter
    ATP-binding cassette transporter 3
    Short name:
    ATP-binding cassette 3
    Gene namesi
    Name:ABCA3
    Synonyms:ABC3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:33. ABCA3.

    Subcellular locationi

    GO - Cellular componenti

    1. alveolar lamellar body Source: MGI
    2. alveolar lamellar body membrane Source: Ensembl
    3. extracellular space Source: UniProt
    4. integral component of membrane Source: ProtInc
    5. membrane Source: ProtInc
    6. plasma membrane Source: MGI

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti101 – 1011L → P in SMDP3. 1 Publication
    Corresponds to variant rs28936412 [ dbSNP | Ensembl ].
    VAR_023497
    Natural varianti568 – 5681N → D in SMDP3. 1 Publication
    VAR_023498
    Natural varianti1553 – 15531L → P in SMDP3. 1 Publication
    VAR_023499
    Natural varianti1591 – 15911Q → P in SMDP3. 1 Publication
    Corresponds to variant rs28936691 [ dbSNP | Ensembl ].
    VAR_023500

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi610921. phenotype.
    Orphaneti264675. Congenital pulmonary alveolar proteinosis.
    217563. Neonatal acute respiratory distress with surfactant metabolism deficiency.
    PharmGKBiPA24378.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 17041704ATP-binding cassette sub-family A member 3PRO_0000093293Add
    BLAST

    Proteomic databases

    MaxQBiQ99758.
    PaxDbiQ99758.
    PRIDEiQ99758.

    PTM databases

    PhosphoSiteiQ99758.

    Expressioni

    Tissue specificityi

    Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma.

    Gene expression databases

    ArrayExpressiQ99758.
    BgeeiQ99758.
    CleanExiHS_ABCA3.
    GenevestigatoriQ99758.

    Organism-specific databases

    HPAiHPA007884.

    Interactioni

    Protein-protein interaction databases

    BioGridi106539. 2 interactions.
    IntActiQ99758. 2 interactions.
    MINTiMINT-6943242.
    STRINGi9606.ENSP00000301732.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99758.
    SMRiQ99758. Positions 527-832, 1302-1642.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei22 – 4221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei261 – 28323HelicalSequence AnalysisAdd
    BLAST
    Transmembranei307 – 32721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei344 – 36421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei373 – 39321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei405 – 42521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei447 – 46721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei925 – 94521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1100 – 112021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1144 – 116421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1183 – 120321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1213 – 123321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1245 – 126521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1306 – 132621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini530 – 763234ABC transporter 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1381 – 1614234ABC transporter 2PROSITE-ProRule annotationAdd
    BLAST

    Domaini

    Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.By similarity

    Sequence similaritiesi

    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1131.
    HOGENOMiHOG000006613.
    HOVERGENiHBG050435.
    KOiK05643.
    OMAiLKTCICA.
    OrthoDBiEOG7RNJZ8.
    PhylomeDBiQ99758.
    TreeFamiTF105191.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR003593. AAA+_ATPase.
    IPR026082. ABC_A.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR026969. ABCA3.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PANTHERiPTHR19229. PTHR19229. 1 hit.
    PTHR19229:SF98. PTHR19229:SF98. 1 hit.
    PfamiPF00005. ABC_tran. 2 hits.
    [Graphical view]
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99758-1) [UniParc]FASTAAdd to Basket

    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

    MAVLRQLALL LWKNYTLQKR KVLVTVLELF LPLLFSGILI WLRLKIQSEN     50
    VPNATIYPGQ SIQELPLFFT FPPPGDTWEL AYIPSHSDAA KTVTETVRRA 100
    LVINMRVRGF PSEKDFEDYI RYDNCSSSVL AAVVFEHPFN HSKEPLPLAV 150
    KYHLRFSYTR RNYMWTQTGS FFLKETEGWH TTSLFPLFPN PGPREPTSPD 200
    GGEPGYIREG FLAVQHAVDR AIMEYHADAA TRQLFQRLTV TIKRFPYPPF 250
    IADPFLVAIQ YQLPLLLLLS FTYTALTIAR AVVQEKERRL KEYMRMMGLS 300
    SWLHWSAWFL LFFLFLLIAA SFMTLLFCVK VKPNVAVLSR SDPSLVLAFL 350
    LCFAISTISF SFMVSTFFSK ANMAAAFGGF LYFFTYIPYF FVAPRYNWMT 400
    LSQKLCSCLL SNVAMAMGAQ LIGKFEAKGM GIQWRDLLSP VNVDDDFCFG 450
    QVLGMLLLDS VLYGLVTWYM EAVFPGQFGV PQPWYFFIMP SYWCGKPRAV 500
    AGKEEEDSDP EKALRNEYFE AEPEDLVAGI KIKHLSKVFR VGNKDRAAVR 550
    DLNLNLYEGQ ITVLLGHNGA GKTTTLSMLT GLFPPTSGRA YISGYEISQD 600
    MVQIRKSLGL CPQHDILFDN LTVAEHLYFY AQLKGLSRQK CPEEVKQMLH 650
    IIGLEDKWNS RSRFLSGGMR RKLSIGIALI AGSKVLILDE PTSGMDAISR 700
    RAIWDLLQRQ KSDRTIVLTT HFMDEADLLG DRIAIMAKGE LQCCGSSLFL 750
    KQKYGAGYHM TLVKEPHCNP EDISQLVHHH VPNATLESSA GAELSFILPR 800
    ESTHRFEGLF AKLEKKQKEL GIASFGASIT TMEEVFLRVG KLVDSSMDIQ 850
    AIQLPALQYQ HERRASDWAV DSNLCGAMDP SDGIGALIEE ERTAVKLNTG 900
    LALHCQQFWA MFLKKAAYSW REWKMVAAQV LVPLTCVTLA LLAINYSSEL 950
    FDDPMLRLTL GEYGRTVVPF SVPGTSQLGQ QLSEHLKDAL QAEGQEPREV 1000
    LGDLEEFLIF RASVEGGGFN ERCLVAASFR DVGERTVVNA LFNNQAYHSP 1050
    ATALAVVDNL LFKLLCGPHA SIVVSNFPQP RSALQAAKDQ FNEGRKGFDI 1100
    ALNLLFAMAF LASTFSILAV SERAVQAKHV QFVSGVHVAS FWLSALLWDL 1150
    ISFLIPSLLL LVVFKAFDVR AFTRDGHMAD TLLLLLLYGW AIIPLMYLMN 1200
    FFFLGAATAY TRLTIFNILS GIATFLMVTI MRIPAVKLEE LSKTLDHVFL 1250
    VLPNHCLGMA VSSFYENYET RRYCTSSEVA AHYCKKYNIQ YQENFYAWSA 1300
    PGVGRFVASM AASGCAYLIL LFLIETNLLQ RLRGILCALR RRRTLTELYT 1350
    RMPVLPEDQD VADERTRILA PSPDSLLHTP LIIKELSKVY EQRVPLLAVD 1400
    RLSLAVQKGE CFGLLGFNGA GKTTTFKMLT GEESLTSGDA FVGGHRISSD 1450
    VGKVRQRIGY CPQFDALLDH MTGREMLVMY ARLRGIPERH IGACVENTLR 1500
    GLLLEPHANK LVRTYSGGNK RKLSTGIALI GEPAVIFLDE PSTGMDPVAR 1550
    RLLWDTVARA RESGKAIIIT SHSMEECEAL CTRLAIMVQG QFKCLGSPQH 1600
    LKSKFGSGYS LRAKVQSEGQ QEALEEFKAF VDLTFPGSVL EDEHQGMVHY 1650
    HLPGRDLSWA KVFGILEKAK EKYGVDDYSV SQISLEQVFL SFAHLQPPTA 1700
    EEGR 1704
    Length:1,704
    Mass (Da):191,362
    Last modified:January 24, 2006 - v2
    Checksum:i606735C504839D0D
    GO
    Isoform 2 (identifier: Q99758-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         206-209: YIRE → EKLG
         210-1704: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:209
    Mass (Da):24,002
    Checksum:iE78228AB42510C9A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti36 – 361S → P in AAC50967. (PubMed:8706931)Curated
    Sequence conflicti196 – 1961P → L in AAC50967. (PubMed:8706931)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti101 – 1011L → P in SMDP3. 1 Publication
    Corresponds to variant rs28936412 [ dbSNP | Ensembl ].
    VAR_023497
    Natural varianti140 – 1401N → H.1 Publication
    Corresponds to variant rs45447801 [ dbSNP | Ensembl ].
    VAR_025061
    Natural varianti290 – 2901L → M in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035728
    Natural varianti568 – 5681N → D in SMDP3. 1 Publication
    VAR_023498
    Natural varianti766 – 7661P → S.1 Publication
    Corresponds to variant rs45592239 [ dbSNP | Ensembl ].
    VAR_025062
    Natural varianti801 – 8011E → D in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035729
    Natural varianti1069 – 10691H → Q in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035730
    Natural varianti1553 – 15531L → P in SMDP3. 1 Publication
    VAR_023499
    Natural varianti1591 – 15911Q → P in SMDP3. 1 Publication
    Corresponds to variant rs28936691 [ dbSNP | Ensembl ].
    VAR_023500

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei206 – 2094YIRE → EKLG in isoform 2. 1 PublicationVSP_056262
    Alternative sequencei210 – 17041495Missing in isoform 2. 1 PublicationVSP_056263Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U78735 mRNA. Translation: AAC50967.1.
    X97187 mRNA. Translation: CAA65825.1.
    AB070929 mRNA. Translation: BAB86781.1.
    DQ073080 Genomic DNA. Translation: AAY57325.1.
    CH471112 Genomic DNA. Translation: EAW85515.1.
    BC020724 mRNA. Translation: AAH20724.1.
    BC062779 mRNA. Translation: AAH62779.1.
    AC009065 Genomic DNA. No translation available.
    AC098805 Genomic DNA. No translation available.
    AC106820 Genomic DNA. No translation available.
    BC140895 mRNA. Translation: AAI40896.1.
    BC146866 mRNA. Translation: AAI46867.1.
    CCDSiCCDS10466.1.
    PIRiA59188.
    S71363.
    RefSeqiNP_001080.2. NM_001089.2.
    UniGeneiHs.26630.

    Genome annotation databases

    EnsembliENST00000301732; ENSP00000301732; ENSG00000167972.
    ENST00000567910; ENSP00000454397; ENSG00000167972.
    GeneIDi21.
    KEGGihsa:21.
    UCSCiuc002cpy.1. human.

    Polymorphism databases

    DMDMi85700402.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    SeattleSNPs
    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U78735 mRNA. Translation: AAC50967.1 .
    X97187 mRNA. Translation: CAA65825.1 .
    AB070929 mRNA. Translation: BAB86781.1 .
    DQ073080 Genomic DNA. Translation: AAY57325.1 .
    CH471112 Genomic DNA. Translation: EAW85515.1 .
    BC020724 mRNA. Translation: AAH20724.1 .
    BC062779 mRNA. Translation: AAH62779.1 .
    AC009065 Genomic DNA. No translation available.
    AC098805 Genomic DNA. No translation available.
    AC106820 Genomic DNA. No translation available.
    BC140895 mRNA. Translation: AAI40896.1 .
    BC146866 mRNA. Translation: AAI46867.1 .
    CCDSi CCDS10466.1.
    PIRi A59188.
    S71363.
    RefSeqi NP_001080.2. NM_001089.2.
    UniGenei Hs.26630.

    3D structure databases

    ProteinModelPortali Q99758.
    SMRi Q99758. Positions 527-832, 1302-1642.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106539. 2 interactions.
    IntActi Q99758. 2 interactions.
    MINTi MINT-6943242.
    STRINGi 9606.ENSP00000301732.

    Chemistry

    DrugBanki DB00619. Imatinib.

    Protein family/group databases

    TCDBi 3.A.1.211.5. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q99758.

    Polymorphism databases

    DMDMi 85700402.

    Proteomic databases

    MaxQBi Q99758.
    PaxDbi Q99758.
    PRIDEi Q99758.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000301732 ; ENSP00000301732 ; ENSG00000167972 .
    ENST00000567910 ; ENSP00000454397 ; ENSG00000167972 .
    GeneIDi 21.
    KEGGi hsa:21.
    UCSCi uc002cpy.1. human.

    Organism-specific databases

    CTDi 21.
    GeneCardsi GC16M002330.
    HGNCi HGNC:33. ABCA3.
    HPAi HPA007884.
    MIMi 601615. gene.
    610921. phenotype.
    neXtProti NX_Q99758.
    Orphaneti 264675. Congenital pulmonary alveolar proteinosis.
    217563. Neonatal acute respiratory distress with surfactant metabolism deficiency.
    PharmGKBi PA24378.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1131.
    HOGENOMi HOG000006613.
    HOVERGENi HBG050435.
    KOi K05643.
    OMAi LKTCICA.
    OrthoDBi EOG7RNJZ8.
    PhylomeDBi Q99758.
    TreeFami TF105191.

    Enzyme and pathway databases

    Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

    Miscellaneous databases

    GeneWikii ABCA3.
    GenomeRNAii 21.
    NextBioi 61.
    PROi Q99758.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99758.
    Bgeei Q99758.
    CleanExi HS_ABCA3.
    Genevestigatori Q99758.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR003593. AAA+_ATPase.
    IPR026082. ABC_A.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR026969. ABCA3.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    PANTHERi PTHR19229. PTHR19229. 1 hit.
    PTHR19229:SF98. PTHR19229:SF98. 1 hit.
    Pfami PF00005. ABC_tran. 2 hits.
    [Graphical view ]
    SMARTi SM00382. AAA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    PROSITEi PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein."
      Klugbauer N., Hofmann F.
      FEBS Lett. 391:61-65(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Thyroid carcinoma.
    2. "The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3."
      Connors T.D., van Raay T.J., Petry L.R., Klinger K.W., Landes G.M., Burn T.C.
      Genomics 39:231-234(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells."
      Yamano G., Funahashi H., Kawanami O., Zhao L., Ban N., Uchida Y., Morohoshi T., Ogawa J., Shioda S., Inagaki N.
      FEBS Lett. 508:221-225(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Lung.
    4. SeattleSNPs variation discovery resource
      Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-140 AND SER-766.
    5. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 1 AND 2).
      Tissue: Brain and Lung.
    8. "ABCA3 gene mutations in newborns with fatal surfactant deficiency."
      Shulenin S., Nogee L.M., Annilo T., Wert S.E., Whitsett J.A., Dean M.
      N. Engl. J. Med. 350:1296-1303(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SMDP3 PRO-101; ASP-568; PRO-1553 AND PRO-1591.
    9. Cited for: VARIANTS [LARGE SCALE ANALYSIS] MET-290; ASP-801 AND GLN-1069.

    Entry informationi

    Entry nameiABCA3_HUMAN
    AccessioniPrimary (citable) accession number: Q99758
    Secondary accession number(s): B2RU09
    , Q54A95, Q6P5P9, Q92473
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: January 24, 2006
    Last modified: October 1, 2014
    This is version 129 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 16
      Human chromosome 16: 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