Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9BZJ4

- S2539_HUMAN

UniProt

Q9BZJ4 - S2539_HUMAN

Protein

Solute carrier family 25 member 39

Gene

SLC25A39

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 2 (11 Jan 2011)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Required for normal heme biosynthesis.By similarity

    GO - Biological processi

    1. heme biosynthetic process Source: UniProtKB-KW
    2. transport Source: UniProtKB-KW

    Keywords - Biological processi

    Heme biosynthesis, Transport

    Protein family/group databases

    TCDBi2.A.29.14.8. the mitochondrial carrier (mc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 25 member 39
    Gene namesi
    ORF Names:CGI-69, PRO2163
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:24279. SLC25A39.

    Subcellular locationi

    Mitochondrion inner membrane 2 Publications; Multi-pass membrane protein 2 Publications

    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

    PharmGKBiPA162403626.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 359359Solute carrier family 25 member 39PRO_0000090596Add
    BLAST

    Proteomic databases

    MaxQBiQ9BZJ4.
    PaxDbiQ9BZJ4.
    PRIDEiQ9BZJ4.

    PTM databases

    PhosphoSiteiQ9BZJ4.

    Expressioni

    Tissue specificityi

    Expressed in many tissues. Abundant in testis and kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ9BZJ4.
    BgeeiQ9BZJ4.
    CleanExiHS_SLC25A39.
    GenevestigatoriQ9BZJ4.

    Organism-specific databases

    HPAiHPA026785.

    Interactioni

    Protein-protein interaction databases

    BioGridi119645. 1 interaction.
    IntActiQ9BZJ4. 1 interaction.
    MINTiMINT-3064380.
    STRINGi9606.ENSP00000366299.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BZJ4.
    SMRiQ9BZJ4. Positions 14-355.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei15 – 3521Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei122 – 14221Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei161 – 18121Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei215 – 23521Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei259 – 27921Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei318 – 33821Helical; Name=6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati9 – 151143Solcar 1Add
    BLAST
    Repeati159 – 24385Solcar 2Add
    BLAST
    Repeati253 – 34795Solcar 3Add
    BLAST

    Sequence similaritiesi

    Contains 3 Solcar repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG276989.
    HOVERGENiHBG011439.
    InParanoidiQ9BZJ4.
    KOiK15119.
    OMAiFRNWIED.
    OrthoDBiEOG79KPFV.
    PhylomeDBiQ9BZJ4.
    TreeFamiTF314720.

    Family and domain databases

    Gene3Di1.50.40.10. 2 hits.
    InterProiIPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view]
    PfamiPF00153. Mito_carr. 3 hits.
    [Graphical view]
    SUPFAMiSSF103506. SSF103506. 2 hits.
    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: Q9BZJ4-1) [UniParc]FASTAAdd to Basket

    Also known as: CGI-69L

    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

    MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL    50
    MPSSRLWSLS YTKLPSSLQS TGKCLLYCNG VLEPLYLCPN GARCATWFQD 100
    PTRFTGTMDA FVKIVRHEGT RTLWSGLPAT LVMTVPATAI YFTAYDQLKA 150
    FLCGRALTSD LYAPMVAGAL ARLGTVTVIS PLELMRTKLQ AQHVSYRELG 200
    ACVRTAVAQG GWRSLWLGWG PTALRDVPFS ALYWFNYELV KSWLNGFRPK 250
    DQTSVGMSFV AGGISGTVAA VLTLPFDVVK TQRQVALGAM EAVRVNPLHV 300
    DSTWLLLRRI RAESGTKGLF AGFLPRIIKA APSCAIMIST YEFGKSFFQR 350
    LNQDRLLGG 359
    Length:359
    Mass (Da):39,249
    Last modified:January 11, 2011 - v2
    Checksum:iC29C750032E94D0A
    GO
    Isoform 2 (identifier: Q9BZJ4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         64-72: LPSSLQSTG → W

    Show »
    Length:351
    Mass (Da):38,564
    Checksum:i5939DFB2C73B71CA
    GO

    Sequence cautioni

    The sequence AAF69618.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti266 – 2661G → R in AAF69618. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti247 – 2471F → L.5 Publications
    Corresponds to variant rs2011951 [ dbSNP | Ensembl ].
    VAR_012756

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei64 – 729LPSSLQSTG → W in isoform 2. 6 PublicationsVSP_003264

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF317711 mRNA. Translation: AAG60687.1.
    AF151827 mRNA. Translation: AAD34064.1.
    AL133584 mRNA. Translation: CAB63728.1.
    AK026060 mRNA. Translation: BAB15341.1.
    AK289357 mRNA. Translation: BAF82046.1.
    CH471178 Genomic DNA. Translation: EAW51602.1.
    CH471178 Genomic DNA. Translation: EAW51603.1.
    CH471178 Genomic DNA. Translation: EAW51604.1.
    CH471178 Genomic DNA. Translation: EAW51605.1.
    CH471178 Genomic DNA. Translation: EAW51606.1.
    CH471178 Genomic DNA. Translation: EAW51607.1.
    BC001398 mRNA. Translation: AAH01398.1.
    BC009330 mRNA. Translation: AAH09330.1.
    BC096819 mRNA. Translation: AAH96819.1.
    AF119864 mRNA. Translation: AAF69618.1. Different initiation.
    CCDSiCCDS11482.1. [Q9BZJ4-2]
    CCDS45700.1. [Q9BZJ4-1]
    PIRiT43493.
    RefSeqiNP_001137252.1. NM_001143780.1. [Q9BZJ4-1]
    NP_057100.1. NM_016016.2. [Q9BZJ4-2]
    UniGeneiHs.744880.

    Genome annotation databases

    EnsembliENST00000225308; ENSP00000225308; ENSG00000013306. [Q9BZJ4-2]
    ENST00000377095; ENSP00000366299; ENSG00000013306. [Q9BZJ4-1]
    ENST00000590194; ENSP00000467681; ENSG00000013306. [Q9BZJ4-2]
    GeneIDi51629.
    KEGGihsa:51629.
    UCSCiuc002igm.2. human. [Q9BZJ4-2]
    uc002ign.2. human. [Q9BZJ4-1]

    Polymorphism databases

    DMDMi317373277.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF317711 mRNA. Translation: AAG60687.1 .
    AF151827 mRNA. Translation: AAD34064.1 .
    AL133584 mRNA. Translation: CAB63728.1 .
    AK026060 mRNA. Translation: BAB15341.1 .
    AK289357 mRNA. Translation: BAF82046.1 .
    CH471178 Genomic DNA. Translation: EAW51602.1 .
    CH471178 Genomic DNA. Translation: EAW51603.1 .
    CH471178 Genomic DNA. Translation: EAW51604.1 .
    CH471178 Genomic DNA. Translation: EAW51605.1 .
    CH471178 Genomic DNA. Translation: EAW51606.1 .
    CH471178 Genomic DNA. Translation: EAW51607.1 .
    BC001398 mRNA. Translation: AAH01398.1 .
    BC009330 mRNA. Translation: AAH09330.1 .
    BC096819 mRNA. Translation: AAH96819.1 .
    AF119864 mRNA. Translation: AAF69618.1 . Different initiation.
    CCDSi CCDS11482.1. [Q9BZJ4-2 ]
    CCDS45700.1. [Q9BZJ4-1 ]
    PIRi T43493.
    RefSeqi NP_001137252.1. NM_001143780.1. [Q9BZJ4-1 ]
    NP_057100.1. NM_016016.2. [Q9BZJ4-2 ]
    UniGenei Hs.744880.

    3D structure databases

    ProteinModelPortali Q9BZJ4.
    SMRi Q9BZJ4. Positions 14-355.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119645. 1 interaction.
    IntActi Q9BZJ4. 1 interaction.
    MINTi MINT-3064380.
    STRINGi 9606.ENSP00000366299.

    Protein family/group databases

    TCDBi 2.A.29.14.8. the mitochondrial carrier (mc) family.

    PTM databases

    PhosphoSitei Q9BZJ4.

    Polymorphism databases

    DMDMi 317373277.

    Proteomic databases

    MaxQBi Q9BZJ4.
    PaxDbi Q9BZJ4.
    PRIDEi Q9BZJ4.

    Protocols and materials databases

    DNASUi 51629.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000225308 ; ENSP00000225308 ; ENSG00000013306 . [Q9BZJ4-2 ]
    ENST00000377095 ; ENSP00000366299 ; ENSG00000013306 . [Q9BZJ4-1 ]
    ENST00000590194 ; ENSP00000467681 ; ENSG00000013306 . [Q9BZJ4-2 ]
    GeneIDi 51629.
    KEGGi hsa:51629.
    UCSCi uc002igm.2. human. [Q9BZJ4-2 ]
    uc002ign.2. human. [Q9BZJ4-1 ]

    Organism-specific databases

    CTDi 51629.
    GeneCardsi GC17M042396.
    HGNCi HGNC:24279. SLC25A39.
    HPAi HPA026785.
    MIMi 610820. gene.
    neXtProti NX_Q9BZJ4.
    PharmGKBi PA162403626.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG276989.
    HOVERGENi HBG011439.
    InParanoidi Q9BZJ4.
    KOi K15119.
    OMAi FRNWIED.
    OrthoDBi EOG79KPFV.
    PhylomeDBi Q9BZJ4.
    TreeFami TF314720.

    Miscellaneous databases

    ChiTaRSi SLC25A39. human.
    GeneWikii SLC25A39.
    GenomeRNAii 51629.
    NextBioi 55553.
    PROi Q9BZJ4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BZJ4.
    Bgeei Q9BZJ4.
    CleanExi HS_SLC25A39.
    Genevestigatori Q9BZJ4.

    Family and domain databases

    Gene3Di 1.50.40.10. 2 hits.
    InterProi IPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view ]
    Pfami PF00153. Mito_carr. 3 hits.
    [Graphical view ]
    SUPFAMi SSF103506. SSF103506. 2 hits.
    PROSITEi PS50920. SOLCAR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Overexpression of the human 2-oxoglutarate carrier lowers mitochondrial membrane potential in HEK-293 cells: contrast with the unique cold-induced mitochondrial carrier CGI-69."
      Yu X.X., Lewin D.A., Zhong A., Brush J., Schow P.W., Sherwood S.W., Pan G., Adams S.H.
      Biochem. J. 353:369-375(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT LEU-247.
      Tissue: Liver.
    2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
      Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
      Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LEU-247.
      Tissue: Testis.
    4. "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] (ISOFORMS 1 AND 2).
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-247.
    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] (ISOFORMS 1 AND 2), VARIANT LEU-247.
      Tissue: Brain, Cervix and Colon.
    7. "Functional prediction of the coding sequences of 79 new genes deduced by analysis of cDNA clones from human fetal liver."
      Zhang C., Yu Y., Zhang S., Wei H., Zhang Y., Zhou G., Bi J., Liu M., He F.
      Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 14-359 (ISOFORM 2), VARIANT LEU-247.
      Tissue: Fetal liver.
    8. "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing."
      Simpson J.C., Wellenreuther R., Poustka A., Pepperkok R., Wiemann S.
      EMBO Rep. 1:287-292(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiS2539_HUMAN
    AccessioniPrimary (citable) accession number: Q9BZJ4
    Secondary accession number(s): A8JZZ2
    , D3DX51, D3DX54, Q4V9M1, Q9P182, Q9UF66, Q9Y379
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 11, 2002
    Last sequence update: January 11, 2011
    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 17
      Human chromosome 17: 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