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Q9NYZ2

- MFRN1_HUMAN

UniProt

Q9NYZ2 - MFRN1_HUMAN

Protein

Mitoferrin-1

Gene

SLC25A37

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (20 May 2008)
      Previous versions | rss
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    Functioni

    Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe2+, is then probably delivered to ferrochelatase to catalyze Fe2+ incorporation into protoprophyrin IX to make heme By similarity.By similarity

    GO - Molecular functioni

    1. iron ion transmembrane transporter activity Source: Ensembl

    GO - Biological processi

    1. iron ion homeostasis Source: UniProtKB-KW
    2. mitochondrial iron ion transport Source: Ensembl
    3. small molecule metabolic process Source: Reactome

    Keywords - Biological processi

    Ion transport, Iron transport, Transport

    Keywords - Ligandi

    Iron

    Enzyme and pathway databases

    ReactomeiREACT_150353. Mitochondrial iron-sulfur cluster biogenesis.

    Protein family/group databases

    TCDBi2.A.29.5.7. the mitochondrial carrier (mc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitoferrin-1
    Alternative name(s):
    Mitochondrial iron transporter 1
    Mitochondrial solute carrier protein
    Solute carrier family 25 member 37
    Gene namesi
    Name:SLC25A37
    Synonyms:MFRN, MSCP
    ORF Names:HT015
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:29786. SLC25A37.

    Subcellular locationi

    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

    PharmGKBiPA142670909.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 338338Mitoferrin-1PRO_0000235251Add
    BLAST

    Proteomic databases

    MaxQBiQ9NYZ2.
    PaxDbiQ9NYZ2.
    PRIDEiQ9NYZ2.

    PTM databases

    PhosphoSiteiQ9NYZ2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NYZ2.
    BgeeiQ9NYZ2.
    CleanExiHS_SLC25A37.
    GenevestigatoriQ9NYZ2.

    Organism-specific databases

    HPAiHPA045680.

    Interactioni

    Protein-protein interaction databases

    BioGridi119463. 1 interaction.
    STRINGi9606.ENSP00000290075.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NYZ2.
    SMRiQ9NYZ2. Positions 43-332.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei45 – 6420Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei106 – 12520Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei143 – 16220Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei200 – 21920Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei234 – 25320Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei301 – 32020Helical; Name=6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati43 – 13189Solcar 1Add
    BLAST
    Repeati141 – 22585Solcar 2Add
    BLAST
    Repeati232 – 32695Solcar 3Add
    BLAST

    Sequence similaritiesi

    Contains 3 Solcar repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG261622.
    HOGENOMiHOG000171727.
    HOVERGENiHBG079464.
    InParanoidiQ9NYZ2.
    KOiK15113.
    OMAiFKGIQAR.
    OrthoDBiEOG77DJ7B.
    PhylomeDBiQ9NYZ2.
    TreeFamiTF314118.

    Family and domain databases

    Gene3Di1.50.40.10. 1 hit.
    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]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NYZ2-1) [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

    MELRSGSVGS QAVARRMDGD SRDGGGGKDA TGSEDYENLP TSASVSTHMT    50
    AGAMAGILEH SVMYPVDSVK TRMQSLSPDP KAQYTSIYGA LKKIMRTEGF 100
    WRPLRGVNVM IMGAGPAHAM YFACYENMKR TLNDVFHHQG NSHLANGIAG 150
    SMATLLHDAV MNPAEVVKQR LQMYNSQHRS AISCIRTVWR TEGLGAFYRS 200
    YTTQLTMNIP FQSIHFITYE FLQEQVNPHR TYNPQSHIIS GGLAGALAAA 250
    ATTPLDVCKT LLNTQENVAL SLANISGRLS GMANAFRTVY QLNGLAGYFK 300
    GIQARVIYQM PSTAISWSVY EFFKYFLTKR QLENRAPY 338
    Length:338
    Mass (Da):37,323
    Last modified:May 20, 2008 - v2
    Checksum:i14576DF1F1854FAA
    GO
    Isoform 2 (identifier: Q9NYZ2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         149-155: AGSMATL → LKAFVWS
         156-338: Missing.

    Show »
    Length:155
    Mass (Da):16,832
    Checksum:i8ACB98A483C8E6EF
    GO
    Isoform 4 (identifier: Q9NYZ2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-151: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:187
    Mass (Da):21,125
    Checksum:i26F760526F7DE21B
    GO

    Sequence cautioni

    The sequence AAF64141.1 differs from that shown. Reason: Frameshift at position 296.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti87 – 871I → V.
    Corresponds to variant rs2942194 [ dbSNP | Ensembl ].
    VAR_043144
    Natural varianti96 – 961R → Q.1 Publication
    Corresponds to variant rs3736032 [ dbSNP | Ensembl ].
    VAR_043145

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 151151Missing in isoform 4. 1 PublicationVSP_018400Add
    BLAST
    Alternative sequencei149 – 1557AGSMATL → LKAFVWS in isoform 2. 4 PublicationsVSP_018402
    Alternative sequencei156 – 338183Missing in isoform 2. 4 PublicationsVSP_018403Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY032628 mRNA. Translation: AAK38154.1.
    AF155660 mRNA. Translation: AAF67479.1.
    AF223466 mRNA. Translation: AAF64141.1. Frameshift.
    AK223194 mRNA. Translation: BAD96914.1.
    CH471080 Genomic DNA. Translation: EAW63617.1.
    BC132799 mRNA. Translation: AAI32800.1.
    BC132801 mRNA. Translation: AAI32802.1.
    BC015013 mRNA. Translation: AAH15013.1.
    AL833186 mRNA. Translation: CAH10415.1. Sequence problems.
    CCDSiCCDS47828.1. [Q9NYZ2-1]
    RefSeqiNP_057696.2. NM_016612.2. [Q9NYZ2-1]
    XP_005273583.1. XM_005273526.2. [Q9NYZ2-4]
    UniGeneiHs.596025.
    Hs.658208.
    Hs.726050.

    Genome annotation databases

    EnsembliENST00000290075; ENSP00000290075; ENSG00000147454. [Q9NYZ2-2]
    ENST00000519973; ENSP00000429200; ENSG00000147454. [Q9NYZ2-1]
    GeneIDi51312.
    KEGGihsa:51312.
    UCSCiuc003xdn.1. human. [Q9NYZ2-2]
    uc003xdo.3. human. [Q9NYZ2-1]

    Polymorphism databases

    DMDMi189047115.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY032628 mRNA. Translation: AAK38154.1 .
    AF155660 mRNA. Translation: AAF67479.1 .
    AF223466 mRNA. Translation: AAF64141.1 . Frameshift.
    AK223194 mRNA. Translation: BAD96914.1 .
    CH471080 Genomic DNA. Translation: EAW63617.1 .
    BC132799 mRNA. Translation: AAI32800.1 .
    BC132801 mRNA. Translation: AAI32802.1 .
    BC015013 mRNA. Translation: AAH15013.1 .
    AL833186 mRNA. Translation: CAH10415.1 . Sequence problems.
    CCDSi CCDS47828.1. [Q9NYZ2-1 ]
    RefSeqi NP_057696.2. NM_016612.2. [Q9NYZ2-1 ]
    XP_005273583.1. XM_005273526.2. [Q9NYZ2-4 ]
    UniGenei Hs.596025.
    Hs.658208.
    Hs.726050.

    3D structure databases

    ProteinModelPortali Q9NYZ2.
    SMRi Q9NYZ2. Positions 43-332.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119463. 1 interaction.
    STRINGi 9606.ENSP00000290075.

    Protein family/group databases

    TCDBi 2.A.29.5.7. the mitochondrial carrier (mc) family.

    PTM databases

    PhosphoSitei Q9NYZ2.

    Polymorphism databases

    DMDMi 189047115.

    Proteomic databases

    MaxQBi Q9NYZ2.
    PaxDbi Q9NYZ2.
    PRIDEi Q9NYZ2.

    Protocols and materials databases

    DNASUi 51312.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290075 ; ENSP00000290075 ; ENSG00000147454 . [Q9NYZ2-2 ]
    ENST00000519973 ; ENSP00000429200 ; ENSG00000147454 . [Q9NYZ2-1 ]
    GeneIDi 51312.
    KEGGi hsa:51312.
    UCSCi uc003xdn.1. human. [Q9NYZ2-2 ]
    uc003xdo.3. human. [Q9NYZ2-1 ]

    Organism-specific databases

    CTDi 51312.
    GeneCardsi GC08P023386.
    H-InvDB HIX0007389.
    HGNCi HGNC:29786. SLC25A37.
    HPAi HPA045680.
    MIMi 610387. gene.
    neXtProti NX_Q9NYZ2.
    PharmGKBi PA142670909.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG261622.
    HOGENOMi HOG000171727.
    HOVERGENi HBG079464.
    InParanoidi Q9NYZ2.
    KOi K15113.
    OMAi FKGIQAR.
    OrthoDBi EOG77DJ7B.
    PhylomeDBi Q9NYZ2.
    TreeFami TF314118.

    Enzyme and pathway databases

    Reactomei REACT_150353. Mitochondrial iron-sulfur cluster biogenesis.

    Miscellaneous databases

    ChiTaRSi SLC25A37. human.
    GeneWikii SLC25A37.
    GenomeRNAii 51312.
    NextBioi 54651.
    PROi Q9NYZ2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NYZ2.
    Bgeei Q9NYZ2.
    CleanExi HS_SLC25A37.
    Genevestigatori Q9NYZ2.

    Family and domain databases

    Gene3Di 1.50.40.10. 1 hit.
    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. "Rapid decrease of RNA level of a novel mouse mitochondria solute carrier protein (Mscp) gene at 4-5 weeks of age."
      Li Q.-Z., Eckenrode S., Ruan Q.-G., Wang C.-Y., Shi J.-D., McIndoe R.A., She J.-X.
      Mamm. Genome 12:830-836(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Adrenal gland.
    3. "A novel gene expressed in human hypothalamus."
      Song H., Gao G., Peng Y., Ren S., Chen Z., Han Z.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Hypothalamus.
    4. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-96.
      Tissue: Pancreas.
    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] (ISOFORMS 1 AND 2).
      Tissue: Brain and Uterus.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-338 (ISOFORM 2).
      Tissue: Lymph node.

    Entry informationi

    Entry nameiMFRN1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NYZ2
    Secondary accession number(s): A2RU93
    , Q53FT7, Q69YJ8, Q969S1, Q9P0J2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: May 20, 2008
    Last modified: October 1, 2014
    This is version 106 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 8
      Human chromosome 8: 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