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Q6P4A7

- SFXN4_HUMAN

UniProt

Q6P4A7 - SFXN4_HUMAN

Protein

Sideroflexin-4

Gene

SFXN4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Potential iron transporter.By similarity

    GO - Molecular functioni

    1. cation transmembrane transporter activity Source: InterPro

    GO - Biological processi

    1. iron ion homeostasis Source: UniProtKB-KW

    Keywords - Biological processi

    Ion transport, Iron transport, Transport

    Keywords - Ligandi

    Iron

    Protein family/group databases

    TCDBi2.A.54.1.3. the mitochondrial tricarboxylate carrier (mtc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sideroflexin-4
    Alternative name(s):
    Breast cancer resistance marker 1
    Gene namesi
    Name:SFXN4
    Synonyms:BCRM1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:16088. SFXN4.

    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. intracellular membrane-bounded organelle Source: HPA
    3. mitochondrial inner membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Combined oxidative phosphorylation deficiency 18 (COXPD18) [MIM:615578]: An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi615578. phenotype.
    Orphaneti391348. Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome.
    PharmGKBiPA38093.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 337336Sideroflexin-4PRO_0000177041Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine2 Publications
    Modified residuei197 – 1971N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ6P4A7.
    PaxDbiQ6P4A7.
    PRIDEiQ6P4A7.

    PTM databases

    PhosphoSiteiQ6P4A7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6P4A7.
    BgeeiQ6P4A7.
    CleanExiHS_SFXN4.
    GenevestigatoriQ6P4A7.

    Organism-specific databases

    HPAiHPA018028.
    HPA020872.

    Interactioni

    Protein-protein interaction databases

    BioGridi125645. 3 interactions.
    IntActiQ6P4A7. 4 interactions.
    STRINGi9606.ENSP00000347924.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6P4A7.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei111 – 13121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei133 – 15321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei165 – 18521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei251 – 27121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei293 – 31321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the sideroflexin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG315418.
    HOGENOMiHOG000010305.
    HOVERGENiHBG104924.
    InParanoidiQ6P4A7.
    OMAiNVRFWIT.
    OrthoDBiEOG7J70G0.
    PhylomeDBiQ6P4A7.
    TreeFamiTF313205.

    Family and domain databases

    InterProiIPR004686. Mtc.
    IPR028825. SFXN4.
    [Graphical view]
    PANTHERiPTHR11153. PTHR11153. 1 hit.
    PTHR11153:SF3. PTHR11153:SF3. 1 hit.
    PfamiPF03820. Mtc. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6P4A7-1) [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

    MSLEQEEETQ PGRLLGRRDA VPAFIEPNVR FWITERQSFI RRFLQWTELL    50
    DPTNVFISVE SIENSRQLLC TNEDVSSPAS ADQRIQEAWK RSLATVHPDS 100
    SNLIPKLFRP AAFLPFMAPT VFLSMTPLKG IKSVILPQVF LCAYMAAFNS 150
    INGNRSYTCK PLERSLLMAG AVASSTFLGV IPQFVQMKYG LTGPWIKRLL 200
    PVIFLVQASG MNVYMSRSLE SIKGIAVMDK EGNVLGHSRI AGTKAVRETL 250
    ASRIVLFGTS ALIPEVFTYF FKRTQYFRKN PGSLWILKLS CTVLAMGLMV 300
    PFSFSIFPQI GQIQYCSLEE KIQSPTEETE IFYHRGV 337
    Length:337
    Mass (Da):37,998
    Last modified:July 5, 2004 - v1
    Checksum:i77A08F150D241277
    GO
    Isoform 2 (identifier: Q6P4A7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         85-93: Missing.
         313-337: IQYCSLEEKIQSPTEETEIFYHRGV → VT

    Note: No experimental confirmation available.

    Show »
    Length:305
    Mass (Da):34,104
    Checksum:iA0E3CFE491DDB508
    GO
    Isoform 3 (identifier: Q6P4A7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-116: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:221
    Mass (Da):24,587
    Checksum:iA6E9596C3E438E0F
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 116116Missing in isoform 3. 1 PublicationVSP_014608Add
    BLAST
    Alternative sequencei85 – 939Missing in isoform 2. 1 PublicationVSP_014609
    Alternative sequencei313 – 33725IQYCS…YHRGV → VT in isoform 2. 1 PublicationVSP_014610Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF336980 mRNA. Translation: AAP23066.1.
    AY269785 mRNA. Translation: AAP97074.1.
    AL355598, AL355861 Genomic DNA. Translation: CAI14126.1.
    AL355861, AL355598 Genomic DNA. Translation: CAI15801.1.
    BC063562 mRNA. Translation: AAH63562.1.
    CCDSiCCDS7610.1. [Q6P4A7-1]
    RefSeqiNP_998814.1. NM_213649.1. [Q6P4A7-1]
    XP_005269583.1. XM_005269526.1. [Q6P4A7-3]
    XP_005269584.1. XM_005269527.1. [Q6P4A7-3]
    UniGeneiHs.655168.

    Genome annotation databases

    EnsembliENST00000355697; ENSP00000347924; ENSG00000183605. [Q6P4A7-1]
    GeneIDi119559.
    KEGGihsa:119559.
    UCSCiuc001ldy.3. human. [Q6P4A7-1]

    Polymorphism databases

    DMDMi71153761.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF336980 mRNA. Translation: AAP23066.1 .
    AY269785 mRNA. Translation: AAP97074.1 .
    AL355598 , AL355861 Genomic DNA. Translation: CAI14126.1 .
    AL355861 , AL355598 Genomic DNA. Translation: CAI15801.1 .
    BC063562 mRNA. Translation: AAH63562.1 .
    CCDSi CCDS7610.1. [Q6P4A7-1 ]
    RefSeqi NP_998814.1. NM_213649.1. [Q6P4A7-1 ]
    XP_005269583.1. XM_005269526.1. [Q6P4A7-3 ]
    XP_005269584.1. XM_005269527.1. [Q6P4A7-3 ]
    UniGenei Hs.655168.

    3D structure databases

    ProteinModelPortali Q6P4A7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125645. 3 interactions.
    IntActi Q6P4A7. 4 interactions.
    STRINGi 9606.ENSP00000347924.

    Protein family/group databases

    TCDBi 2.A.54.1.3. the mitochondrial tricarboxylate carrier (mtc) family.

    PTM databases

    PhosphoSitei Q6P4A7.

    Polymorphism databases

    DMDMi 71153761.

    Proteomic databases

    MaxQBi Q6P4A7.
    PaxDbi Q6P4A7.
    PRIDEi Q6P4A7.

    Protocols and materials databases

    DNASUi 119559.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000355697 ; ENSP00000347924 ; ENSG00000183605 . [Q6P4A7-1 ]
    GeneIDi 119559.
    KEGGi hsa:119559.
    UCSCi uc001ldy.3. human. [Q6P4A7-1 ]

    Organism-specific databases

    CTDi 119559.
    GeneCardsi GC10M120890.
    HGNCi HGNC:16088. SFXN4.
    HPAi HPA018028.
    HPA020872.
    MIMi 615564. gene.
    615578. phenotype.
    neXtProti NX_Q6P4A7.
    Orphaneti 391348. Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome.
    PharmGKBi PA38093.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315418.
    HOGENOMi HOG000010305.
    HOVERGENi HBG104924.
    InParanoidi Q6P4A7.
    OMAi NVRFWIT.
    OrthoDBi EOG7J70G0.
    PhylomeDBi Q6P4A7.
    TreeFami TF313205.

    Miscellaneous databases

    ChiTaRSi SFXN4. human.
    GenomeRNAii 119559.
    NextBioi 80437.
    PROi Q6P4A7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6P4A7.
    Bgeei Q6P4A7.
    CleanExi HS_SFXN4.
    Genevestigatori Q6P4A7.

    Family and domain databases

    InterProi IPR004686. Mtc.
    IPR028825. SFXN4.
    [Graphical view ]
    PANTHERi PTHR11153. PTHR11153. 1 hit.
    PTHR11153:SF3. PTHR11153:SF3. 1 hit.
    Pfami PF03820. Mtc. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "BCRM-1, a novel tumor marker for refractory cancers."
      Auclair D., Gong Y., Dai M., Kraeft S.-K., Chen L.B.
      Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Mammary tumor.
    2. "Molecular cloning and characterization of a novel human putative transmembrane protein homologous to mouse sideroflexin associated with sideroblastic anemia."
      Zheng H., Ji C., Zou X., Wu M., Jin Z., Yin G., Li J., Feng C., Cheng H., Gu S., Xie Y., Mao Y.
      DNA Seq. 14:369-373(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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).
      Tissue: Placenta.
    5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    6. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-197, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: INVOLVEMENT IN COXPD18, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiSFXN4_HUMAN
    AccessioniPrimary (citable) accession number: Q6P4A7
    Secondary accession number(s): Q6WSU4, Q86TD9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2005
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 96 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 10
      Human chromosome 10: 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