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Q6Q0C1

- S2547_HUMAN

UniProt

Q6Q0C1 - S2547_HUMAN

Protein

Solute carrier family 25 member 47

Gene

SLC25A47

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces the dissipation of mitochondrial membrane potential.1 Publication

    GO - Biological processi

    1. transmembrane transport Source: InterPro

    Keywords - Biological processi

    Transport

    Protein family/group databases

    TCDBi2.A.29.8.10. the mitochondrial carrier (mc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 25 member 47
    Alternative name(s):
    Hepatocellular carcinoma down-regulated mitochondrial carrier protein
    Gene namesi
    Name:SLC25A47
    Synonyms:C14orf68, HDMCP
    ORF Names:HMFN1655
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20115. SLC25A47.

    Subcellular locationi

    Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165479287.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 308308Solute carrier family 25 member 47PRO_0000291779Add
    BLAST

    Proteomic databases

    PaxDbiQ6Q0C1.
    PRIDEiQ6Q0C1.

    PTM databases

    PhosphoSiteiQ6Q0C1.

    Expressioni

    Tissue specificityi

    Specifically expressed in liver.1 Publication

    Inductioni

    Down-regulated in hepatocarcinoma.1 Publication

    Gene expression databases

    ArrayExpressiQ6Q0C1.
    BgeeiQ6Q0C1.
    CleanExiHS_C14orf68.
    GenevestigatoriQ6Q0C1.

    Interactioni

    Protein-protein interaction databases

    BioGridi129619. 2 interactions.
    IntActiQ6Q0C1. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6Q0C1.
    SMRiQ6Q0C1. Positions 2-307.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei3 – 2321Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei49 – 6921Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei98 – 11619Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei190 – 21021Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei217 – 23721Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei273 – 29321Helical; Name=6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati1 – 8080Solcar 1Add
    BLAST
    Repeati93 – 206114Solcar 2Add
    BLAST
    Repeati215 – 30288Solcar 3Add
    BLAST

    Sequence similaritiesi

    Contains 3 Solcar repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG263786.
    HOGENOMiHOG000168307.
    HOVERGENiHBG003500.
    InParanoidiQ6Q0C1.
    KOiK15123.
    OMAiHCLAHIC.
    OrthoDBiEOG77DJ6R.
    PhylomeDBiQ6Q0C1.
    TreeFamiTF351739.

    Family and domain databases

    Gene3Di1.50.40.10. 1 hit.
    InterProiIPR002067. Mit_carrier.
    IPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view]
    PfamiPF00153. Mito_carr. 3 hits.
    [Graphical view]
    PRINTSiPR00926. MITOCARRIER.
    SUPFAMiSSF103506. SSF103506. 1 hit.
    PROSITEiPS50920. SOLCAR. 3 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6Q0C1-1) [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

    MDFVAGAIGG VCGVAVGYPL DTVKVRIQTE PKYTGIWHCV RDTYHRERVW    50
    GFYRGLSLPV CTVSLVSSVS FGTYRHCLAH ICRLRYGNPD AKPTKADITL 100
    SGCASGLVRV FLTSPTEVAK VRLQTQTQAQ KQQRRLSASG PLAVPPMCPV 150
    PPACPEPKYR GPLHCLATVA REEGLCGLYK GSSALVLRDG HSFATYFLSY 200
    AVLCEWLSPA GHSRPDVPGV LVAGGCAGVL AWAVATPMDV IKSRLQADGQ 250
    GQRRYRGLLH CMVTSVREEG PRVLFKGLVL NCCRAFPVNM VVFVAYEAVL 300
    RLARGLLT 308
    Length:308
    Mass (Da):33,435
    Last modified:July 5, 2004 - v1
    Checksum:i995BC7342F99AFCC
    GO
    Isoform 2 (identifier: Q6Q0C1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         25-30: VRIQTE → GLLALP
         31-308: Missing.

    Show »
    Length:30
    Mass (Da):2,904
    Checksum:i6FE4DF1638A68F9A
    GO

    Sequence cautioni

    The sequence CAD62588.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei25 – 306VRIQTE → GLLALP in isoform 2. 2 PublicationsVSP_026233
    Alternative sequencei31 – 308278Missing in isoform 2. 2 PublicationsVSP_026234Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY569438 mRNA. Translation: AAS80155.1.
    AY570298 mRNA. Translation: AAS77211.1.
    AB073385 mRNA. Translation: BAD38636.1. Sequence problems.
    AK092001 mRNA. Translation: BAG52460.1.
    BX248260 mRNA. Translation: CAD62588.1. Different initiation.
    CH471061 Genomic DNA. Translation: EAW81697.1.
    BC137253 mRNA. Translation: AAI37254.1.
    BC137254 mRNA. Translation: AAI37255.1.
    CCDSiCCDS9959.1. [Q6Q0C1-1]
    RefSeqiNP_997000.2. NM_207117.2. [Q6Q0C1-1]
    UniGeneiHs.108268.

    Genome annotation databases

    EnsembliENST00000361529; ENSP00000354886; ENSG00000140107. [Q6Q0C1-1]
    GeneIDi283600.
    KEGGihsa:283600.
    UCSCiuc001yhc.3. human. [Q6Q0C1-1]

    Polymorphism databases

    DMDMi74749277.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY569438 mRNA. Translation: AAS80155.1 .
    AY570298 mRNA. Translation: AAS77211.1 .
    AB073385 mRNA. Translation: BAD38636.1 . Sequence problems.
    AK092001 mRNA. Translation: BAG52460.1 .
    BX248260 mRNA. Translation: CAD62588.1 . Different initiation.
    CH471061 Genomic DNA. Translation: EAW81697.1 .
    BC137253 mRNA. Translation: AAI37254.1 .
    BC137254 mRNA. Translation: AAI37255.1 .
    CCDSi CCDS9959.1. [Q6Q0C1-1 ]
    RefSeqi NP_997000.2. NM_207117.2. [Q6Q0C1-1 ]
    UniGenei Hs.108268.

    3D structure databases

    ProteinModelPortali Q6Q0C1.
    SMRi Q6Q0C1. Positions 2-307.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129619. 2 interactions.
    IntActi Q6Q0C1. 2 interactions.

    Protein family/group databases

    TCDBi 2.A.29.8.10. the mitochondrial carrier (mc) family.

    PTM databases

    PhosphoSitei Q6Q0C1.

    Polymorphism databases

    DMDMi 74749277.

    Proteomic databases

    PaxDbi Q6Q0C1.
    PRIDEi Q6Q0C1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361529 ; ENSP00000354886 ; ENSG00000140107 . [Q6Q0C1-1 ]
    GeneIDi 283600.
    KEGGi hsa:283600.
    UCSCi uc001yhc.3. human. [Q6Q0C1-1 ]

    Organism-specific databases

    CTDi 283600.
    GeneCardsi GC14P101163.
    HGNCi HGNC:20115. SLC25A47.
    MIMi 609911. gene.
    neXtProti NX_Q6Q0C1.
    PharmGKBi PA165479287.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG263786.
    HOGENOMi HOG000168307.
    HOVERGENi HBG003500.
    InParanoidi Q6Q0C1.
    KOi K15123.
    OMAi HCLAHIC.
    OrthoDBi EOG77DJ6R.
    PhylomeDBi Q6Q0C1.
    TreeFami TF351739.

    Miscellaneous databases

    GenomeRNAii 283600.
    NextBioi 94088.
    PROi Q6Q0C1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6Q0C1.
    Bgeei Q6Q0C1.
    CleanExi HS_C14orf68.
    Genevestigatori Q6Q0C1.

    Family and domain databases

    Gene3Di 1.50.40.10. 1 hit.
    InterProi IPR002067. Mit_carrier.
    IPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view ]
    Pfami PF00153. Mito_carr. 3 hits.
    [Graphical view ]
    PRINTSi PR00926. MITOCARRIER.
    SUPFAMi SSF103506. SSF103506. 1 hit.
    PROSITEi PS50920. SOLCAR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and identification of hepatocellular carcinoma down-regulated mitochondrial carrier protein, a novel liver-specific uncoupling protein."
      Tan M.G.K., Ooi L.L.P.J., Aw S.E., Hui K.M.
      J. Biol. Chem. 279:45235-45244(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
    2. "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas."
      Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.
      Oncogene 23:5901-5911(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "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: Liver.
    4. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Fetal liver.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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).

    Entry informationi

    Entry nameiS2547_HUMAN
    AccessioniPrimary (citable) accession number: Q6Q0C1
    Secondary accession number(s): B2RP39
    , Q68CL2, Q6PZD8, Q86U14
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 26, 2007
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 87 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3