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Q9NSE7

- ABCCD_HUMAN

UniProt

Q9NSE7 - ABCCD_HUMAN

Protein

Putative ATP-binding cassette sub-family C member 13

Gene

ABCC13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (20 Jun 2002)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Putative ATP-binding cassette sub-family C member 13
    Gene namesi
    Name:ABCC13
    Synonyms:C21orf73, PRED6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:16022. ABCC13.

    Subcellular locationi

    Membrane PROSITE-ProRule annotation; Multi-pass membrane protein PROSITE-ProRule annotation

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 274274Putative ATP-binding cassette sub-family C member 13PRO_0000093475Add
    BLAST

    Proteomic databases

    PaxDbiQ9NSE7.
    PRIDEiQ9NSE7.

    PTM databases

    PhosphoSiteiQ9NSE7.

    Expressioni

    Tissue specificityi

    Highest expression in fetal liver and fetal spleen. In the adult, highest levels are found in the colon ascending and transverse. Also expressed in brain, placenta, lung, liver, pancreas and ovary. In bone marrow cells, levels are several fold higher than in peripheral blood leukocytes.3 Publications

    Inductioni

    Down-regulated by cell differentiation in certain leukemia cells.1 Publication

    Gene expression databases

    CleanExiHS_ABCC13.
    GenevestigatoriQ9NSE7.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NSE7.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei118 – 13821HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei154 – 17421HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini118 – 274157ABC transmembrane type-1PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1132.
    PhylomeDBiQ9NSE7.

    Family and domain databases

    InterProiIPR011527. ABC1_TM_dom.
    IPR001140. ABC_transptr_TM_dom.
    [Graphical view]
    PfamiPF00664. ABC_membrane. 1 hit.
    [Graphical view]
    SUPFAMiSSF90123. SSF90123. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Note: Experimental confirmation may be lacking for some isoforms.

    Isoform 1 (identifier: Q9NSE7-1) [UniParc]FASTAAdd to Basket

    Also known as: A

    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

    MLSSTQNAGG SYQRVRGALD TQKCSPEKSA SFFSKVTYSW FSRVITLGYK    50
    RPLEREDLFE LKESDSFCTA CPIFEKQWRK EVLRNQERQK VKVSCYKEAH 100
    IKKPSLLYAL WNTFKSILIQ VALFKVFADI LSFTSPLIMK QIIIFCEHSS 150
    DFGWNGYGYA VALLVVVFLQ TLILQQYQRF NMLTSAKVKT AVNGLIYKKA 200
    LLLSNVSRQK FSTGEIINLM SATHGLDSKP QSPLVCPFSN PNGRISPLAR 250
    AGSSSVSRGG SPCVCYTNKC FSCN 274
    Length:274
    Mass (Da):30,831
    Last modified:June 20, 2002 - v2
    Checksum:i02BFDCFE0F6D623F
    GO
    Isoform 2 (identifier: Q9NSE7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         200-274: ALLLSNVSRQ...CYTNKCFSCN → VSLATLCVYF...CKKTFSLAPS

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:325
    Mass (Da):37,042
    Checksum:iB29D83108B52FB61
    GO
    Isoform 3 (identifier: Q9NSE7-3) [UniParc]FASTAAdd to Basket

    Also known as: B

    The sequence of this isoform differs from the canonical sequence as follows:
         141-274: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:140
    Mass (Da):16,263
    Checksum:i380A5ACD4854A143
    GO
    Isoform 4 (identifier: Q9NSE7-4) [UniParc]FASTAAdd to Basket

    Also known as: D

    The sequence of this isoform differs from the canonical sequence as follows:
         140-169: KQIIIFCEHSSDFGWNGYGYAVALLVVVFL → NYTRKVNYLMGLPCENQKITSYSQASGRDS
         170-274: Missing.

    Show »
    Length:169
    Mass (Da):19,542
    Checksum:i0A05B2E6D0E914EF
    GO
    Isoform 5 (identifier: Q9NSE7-5) [UniParc]FASTAAdd to Basket

    Also known as: C

    The sequence of this isoform differs from the canonical sequence as follows:
         10-42: GSYQRVRGALDTQKCSPEKSASFFSKVTYSWFS → RLIH

    Show »
    Length:245
    Mass (Da):27,619
    Checksum:iAE97FFB60A3CF605
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti228 – 2281S → N.
    Corresponds to variant rs2822558 [ dbSNP | Ensembl ].
    VAR_020247

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei10 – 4233GSYQR…YSWFS → RLIH in isoform 5. 1 PublicationVSP_012454Add
    BLAST
    Alternative sequencei140 – 16930KQIII…VVVFL → NYTRKVNYLMGLPCENQKIT SYSQASGRDS in isoform 4. 1 PublicationVSP_012455Add
    BLAST
    Alternative sequencei141 – 274134Missing in isoform 3. 1 PublicationVSP_000067Add
    BLAST
    Alternative sequencei170 – 274105Missing in isoform 4. 1 PublicationVSP_012456Add
    BLAST
    Alternative sequencei200 – 27475ALLLS…CFSCN → VSLATLCVYFLLDEGNILTA TKVFTSMSLFNILRIPLFEL PTVISAVVQTKISLGRLEDF LNTEELLPQSIETNYTGDHA IGFTDASFSWDKTGMPVLKE ALWLMFLSRPGFRIAFCKKT FSLAPS in isoform 2. 1 PublicationVSP_000066Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY063514 mRNA. Translation: AAL47201.1.
    AF418600 mRNA. Translation: AAL99903.1.
    AY063515 mRNA. Translation: AAL47202.1.
    AY344117 mRNA. Translation: AAQ22368.1.
    AF518320 mRNA. Translation: AAM70494.1.
    AF518321 mRNA. Translation: AAM70495.1.
    AP001660 Genomic DNA. Translation: BAA95546.1.
    PIRiJC7909.
    UniGeneiHs.366575.

    Genome annotation databases

    UCSCiuc002yjq.3. human. [Q9NSE7-4]
    uc002yjr.3. human. [Q9NSE7-1]
    uc010gkx.3. human. [Q9NSE7-5]

    Polymorphism databases

    DMDMi21541961.

    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
    AY063514 mRNA. Translation: AAL47201.1 .
    AF418600 mRNA. Translation: AAL99903.1 .
    AY063515 mRNA. Translation: AAL47202.1 .
    AY344117 mRNA. Translation: AAQ22368.1 .
    AF518320 mRNA. Translation: AAM70494.1 .
    AF518321 mRNA. Translation: AAM70495.1 .
    AP001660 Genomic DNA. Translation: BAA95546.1 .
    PIRi JC7909.
    UniGenei Hs.366575.

    3D structure databases

    ProteinModelPortali Q9NSE7.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q9NSE7.

    Polymorphism databases

    DMDMi 21541961.

    Proteomic databases

    PaxDbi Q9NSE7.
    PRIDEi Q9NSE7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    UCSCi uc002yjq.3. human. [Q9NSE7-4 ]
    uc002yjr.3. human. [Q9NSE7-1 ]
    uc010gkx.3. human. [Q9NSE7-5 ]

    Organism-specific databases

    GeneCardsi GC21P015647.
    HGNCi HGNC:16022. ABCC13.
    MIMi 608835. gene.
    neXtProti NX_Q9NSE7.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1132.
    PhylomeDBi Q9NSE7.

    Miscellaneous databases

    PROi Q9NSE7.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_ABCC13.
    Genevestigatori Q9NSE7.

    Family and domain databases

    InterProi IPR011527. ABC1_TM_dom.
    IPR001140. ABC_transptr_TM_dom.
    [Graphical view ]
    Pfami PF00664. ABC_membrane. 1 hit.
    [Graphical view ]
    SUPFAMi SSF90123. SSF90123. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver."
      Yabuuchi H., Takayanagi S., Yoshinaga K., Taniguchi N., Aburatani H., Ishikawa T.
      Biochem. Biophys. Res. Commun. 299:410-417(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), INDUCTION, TISSUE SPECIFICITY.
      Tissue: Liver and Placenta.
    2. "Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages."
      Annilo T., Dean M.
      Genomics 84:34-46(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    3. "Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms."
      Brun M.-E., Ruault M., Ventura M., Roizes G., De Sario A.
      Gene 312:41-50(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
    4. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis."
      Gardiner K., Slavov D., Bechtel L., Davisson M.
      Genomics 79:833-843(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    6. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

    Entry informationi

    Entry nameiABCCD_HUMAN
    AccessioniPrimary (citable) accession number: Q9NSE7
    Secondary accession number(s): Q8N6A4, Q8N6A5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 20, 2002
    Last sequence update: June 20, 2002
    Last modified: October 1, 2014
    This is version 90 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 21
      Human chromosome 21: 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