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Q96DW6

- S2538_HUMAN

UniProt

Q96DW6 - S2538_HUMAN

Protein

Solute carrier family 25 member 38

Gene

SLC25A38

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane.1 PublicationUniRule annotation

    GO - Biological processi

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

    Keywords - Biological processi

    Transport

    Protein family/group databases

    TCDBi2.A.29.5.6. the mitochondrial carrier (mc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 25 member 38UniRule annotation
    Gene namesi
    Name:SLC25A38UniRule annotation
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:26054. SLC25A38.

    Subcellular locationi

    Mitochondrion inner membrane UniRule annotation; Multi-pass membrane protein UniRule annotation

    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

    Involvement in diseasei

    Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA) [MIM:205950]: A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti130 – 1301G → E in PRARSA. 1 Publication
    VAR_058093
    Natural varianti134 – 1341R → H in PRARSA. 1 Publication
    VAR_058094
    Natural varianti187 – 1871R → P in PRARSA. 1 Publication
    VAR_058095
    Natural varianti209 – 2091D → H in PRARSA. 1 Publication
    VAR_058096

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi205950. phenotype.
    Orphaneti260305. Autosomal recessive sideroblastic anemia.
    PharmGKBiPA162403607.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 304304Solute carrier family 25 member 38PRO_0000291802Add
    BLAST

    Proteomic databases

    MaxQBiQ96DW6.
    PaxDbiQ96DW6.
    PRIDEiQ96DW6.

    PTM databases

    PhosphoSiteiQ96DW6.

    Expressioni

    Tissue specificityi

    Preferentially expressed in erythroid cells.1 Publication

    Gene expression databases

    ArrayExpressiQ96DW6.
    BgeeiQ96DW6.
    CleanExiHS_SLC25A38.
    GenevestigatoriQ96DW6.

    Organism-specific databases

    HPAiHPA041027.

    Interactioni

    Protein-protein interaction databases

    BioGridi120313. 2 interactions.
    IntActiQ96DW6. 4 interactions.
    MINTiMINT-1367644.
    STRINGi9606.ENSP00000273158.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96DW6.
    SMRiQ96DW6. Positions 31-296.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei31 – 5626Helical; Name=1UniRule annotationAdd
    BLAST
    Transmembranei89 – 11527Helical; Name=2UniRule annotationAdd
    BLAST
    Transmembranei127 – 15226Helical; Name=3UniRule annotationAdd
    BLAST
    Transmembranei180 – 20324Helical; Name=4UniRule annotationAdd
    BLAST
    Transmembranei219 – 24527Helical; Name=5UniRule annotationAdd
    BLAST
    Transmembranei274 – 29219Helical; Name=6UniRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati25 – 11490Solcar 1Add
    BLAST
    Repeati121 – 20585Solcar 2Add
    BLAST
    Repeati215 – 29985Solcar 3Add
    BLAST

    Sequence similaritiesi

    Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily. [View classification]UniRule annotation
    Contains 3 Solcar repeats.UniRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG268441.
    HOGENOMiHOG000006978.
    HOVERGENiHBG054682.
    InParanoidiQ96DW6.
    KOiK15118.
    OMAiRWIGQAV.
    OrthoDBiEOG7BGHMD.
    PhylomeDBiQ96DW6.
    TreeFamiTF332793.

    Family and domain databases

    Gene3Di1.50.40.10. 1 hit.
    HAMAPiMF_03064. SLC25A38.
    InterProiIPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view]
    PfamiPF00153. Mito_carr. 3 hits.
    [Graphical view]
    SUPFAMiSSF103506. SSF103506. 1 hit.
    PROSITEiPS50920. SOLCAR. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96DW6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MIQNSRPSLL QPQDVGDTVE TLMLHPVIKA FLCGSISGTC STLLFQPLDL    50
    LKTRLQTLQP SDHGSRRVGM LAVLLKVVRT ESLLGLWKGM SPSIVRCVPG 100
    VGIYFGTLYS LKQYFLRGHP PTALESVMLG VGSRSVAGVC MSPITVIKTR 150
    YESGKYGYES IYAALRSIYH SEGHRGLFSG LTATLLRDAP FSGIYLMFYN 200
    QTKNIVPHDQ VDATLIPITN FSCGIFAGIL ASLVTQPADV IKTHMQLYPL 250
    KFQWIGQAVT LIFKDYGLRG FFQGGIPRAL RRTLMAAMAW TVYEEMMAKM 300
    GLKS 304
    Length:304
    Mass (Da):33,566
    Last modified:December 1, 2001 - v1
    Checksum:i026B8121C40F8FF0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti239 – 2391D → G in BAA91253. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti66 – 661R → G.
    Corresponds to variant rs34127778 [ dbSNP | Ensembl ].
    VAR_032862
    Natural varianti130 – 1301G → E in PRARSA. 1 Publication
    VAR_058093
    Natural varianti134 – 1341R → H in PRARSA. 1 Publication
    VAR_058094
    Natural varianti187 – 1871R → P in PRARSA. 1 Publication
    VAR_058095
    Natural varianti209 – 2091D → H in PRARSA. 1 Publication
    VAR_058096

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000558 mRNA. Translation: BAA91253.1.
    CR457242 mRNA. Translation: CAG33523.1.
    BC013194 mRNA. Translation: AAH13194.1.
    CCDSiCCDS2685.1.
    RefSeqiNP_060345.2. NM_017875.2.
    UniGeneiHs.369615.

    Genome annotation databases

    EnsembliENST00000273158; ENSP00000273158; ENSG00000144659.
    GeneIDi54977.
    KEGGihsa:54977.
    UCSCiuc003cjo.2. human.

    Polymorphism databases

    DMDMi74751821.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000558 mRNA. Translation: BAA91253.1 .
    CR457242 mRNA. Translation: CAG33523.1 .
    BC013194 mRNA. Translation: AAH13194.1 .
    CCDSi CCDS2685.1.
    RefSeqi NP_060345.2. NM_017875.2.
    UniGenei Hs.369615.

    3D structure databases

    ProteinModelPortali Q96DW6.
    SMRi Q96DW6. Positions 31-296.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120313. 2 interactions.
    IntActi Q96DW6. 4 interactions.
    MINTi MINT-1367644.
    STRINGi 9606.ENSP00000273158.

    Protein family/group databases

    TCDBi 2.A.29.5.6. the mitochondrial carrier (mc) family.

    PTM databases

    PhosphoSitei Q96DW6.

    Polymorphism databases

    DMDMi 74751821.

    Proteomic databases

    MaxQBi Q96DW6.
    PaxDbi Q96DW6.
    PRIDEi Q96DW6.

    Protocols and materials databases

    DNASUi 54977.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000273158 ; ENSP00000273158 ; ENSG00000144659 .
    GeneIDi 54977.
    KEGGi hsa:54977.
    UCSCi uc003cjo.2. human.

    Organism-specific databases

    CTDi 54977.
    GeneCardsi GC03P039433.
    HGNCi HGNC:26054. SLC25A38.
    HPAi HPA041027.
    MIMi 205950. phenotype.
    610819. gene.
    neXtProti NX_Q96DW6.
    Orphaneti 260305. Autosomal recessive sideroblastic anemia.
    PharmGKBi PA162403607.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG268441.
    HOGENOMi HOG000006978.
    HOVERGENi HBG054682.
    InParanoidi Q96DW6.
    KOi K15118.
    OMAi RWIGQAV.
    OrthoDBi EOG7BGHMD.
    PhylomeDBi Q96DW6.
    TreeFami TF332793.

    Miscellaneous databases

    ChiTaRSi SLC25A38. human.
    GenomeRNAii 54977.
    NextBioi 58234.
    PROi Q96DW6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96DW6.
    Bgeei Q96DW6.
    CleanExi HS_SLC25A38.
    Genevestigatori Q96DW6.

    Family and domain databases

    Gene3Di 1.50.40.10. 1 hit.
    HAMAPi MF_03064. SLC25A38.
    InterProi IPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view ]
    Pfami PF00153. Mito_carr. 3 hits.
    [Graphical view ]
    SUPFAMi SSF103506. SSF103506. 1 hit.
    PROSITEi PS50920. SOLCAR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
      Tissue: Carcinoma.
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "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].
      Tissue: Skin.
    4. "Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system."
      Haitina T., Lindblom J., Renstroem T., Fredriksson R.
      Genomics 88:779-790(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    5. Cited for: VARIANTS PRARSA GLU-130; HIS-134; PRO-187 AND HIS-209, FUNCTION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiS2538_HUMAN
    AccessioniPrimary (citable) accession number: Q96DW6
    Secondary accession number(s): Q9NWX2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 26, 2007
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 104 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 3
      Human chromosome 3: 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