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Q9H4I9

- EMRE_HUMAN

UniProt

Q9H4I9 - EMRE_HUMAN

Protein

Essential MCU regulator, mitochondrial

Gene

SMDT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria. Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU.1 Publication

    GO - Biological processi

    1. calcium ion transmembrane import into mitochondrion Source: MGI
    2. mitochondrial calcium ion homeostasis Source: UniProtKB
    3. mitochondrial calcium ion transport Source: UniProtKB

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    Calcium

    Protein family/group databases

    TCDBi8.A.45.1.1. the essential mcu regulator, emre (emre) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Essential MCU regulator, mitochondrial
    Alternative name(s):
    Single-pass membrane protein with aspartate-rich tail 1, mitochondrial
    Gene namesi
    Name:SMDT1
    Synonyms:C22orf32, EMRE
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:25055. SMDT1.

    Subcellular locationi

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

    GO - Cellular componenti

    1. integral component of mitochondrial inner membrane Source: UniProtKB
    2. uniplex complex Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA145149451.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4747MitochondrionSequence AnalysisAdd
    BLAST
    Chaini48 – 10760Essential MCU regulator, mitochondrialPRO_0000296320Add
    BLAST

    Proteomic databases

    MaxQBiQ9H4I9.
    PaxDbiQ9H4I9.
    PRIDEiQ9H4I9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H4I9.
    BgeeiQ9H4I9.
    CleanExiHS_C22orf32.
    GenevestigatoriQ9H4I9.

    Organism-specific databases

    HPAiHPA032117.

    Interactioni

    Subunit structurei

    Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1.1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000327467.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H4I9.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei65 – 8420HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi93 – 10715Asp/Glu-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SMDT1/EMRE family.Curated

    Keywords - Domaini

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG282161.
    HOGENOMiHOG000018296.
    HOVERGENiHBG095170.
    InParanoidiQ9H4I9.
    OMAiGPSLRKD.
    PhylomeDBiQ9H4I9.
    TreeFamiTF314649.

    Family and domain databases

    InterProiIPR018782. UPF0466.
    [Graphical view]
    PfamiPF10161. DDDD. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9H4I9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASGAARWLV LAPVRSGALR SGPSLRKDGD VSAAWSGSGR SLVPSRSVIV    50
    TRSGAILPKP VKMSFGLLRV FSIVIPFLYV GTLISKNFAA LLEEHDIFVP 100
    EDDDDDD 107
    Length:107
    Mass (Da):11,441
    Last modified:March 1, 2001 - v1
    Checksum:i4E00824D322AE99D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti46 – 461R → G.1 Publication
    Corresponds to variant rs17852210 [ dbSNP | Ensembl ].
    VAR_034628

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL449243 mRNA. Translation: CAC15000.1.
    CR456453 mRNA. Translation: CAG30339.1.
    AK312142 mRNA. Translation: BAG35078.1.
    Z82192, AL021878 Genomic DNA. Translation: CAI19711.1.
    CH471095 Genomic DNA. Translation: EAW60488.1.
    BC024237 mRNA. Translation: AAH24237.1.
    CCDSiCCDS14031.1.
    RefSeqiNP_201575.3. NM_033318.4.
    UniGeneiHs.306083.

    Genome annotation databases

    EnsembliENST00000331479; ENSP00000327467; ENSG00000183172.
    ENST00000571525; ENSP00000459368; ENSG00000272901.
    GeneIDi91689.
    KEGGihsa:91689.
    UCSCiuc003bca.3. human.

    Polymorphism databases

    DMDMi74761431.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL449243 mRNA. Translation: CAC15000.1 .
    CR456453 mRNA. Translation: CAG30339.1 .
    AK312142 mRNA. Translation: BAG35078.1 .
    Z82192 , AL021878 Genomic DNA. Translation: CAI19711.1 .
    CH471095 Genomic DNA. Translation: EAW60488.1 .
    BC024237 mRNA. Translation: AAH24237.1 .
    CCDSi CCDS14031.1.
    RefSeqi NP_201575.3. NM_033318.4.
    UniGenei Hs.306083.

    3D structure databases

    ProteinModelPortali Q9H4I9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000327467.

    Protein family/group databases

    TCDBi 8.A.45.1.1. the essential mcu regulator, emre (emre) family.

    Polymorphism databases

    DMDMi 74761431.

    Proteomic databases

    MaxQBi Q9H4I9.
    PaxDbi Q9H4I9.
    PRIDEi Q9H4I9.

    Protocols and materials databases

    DNASUi 91689.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331479 ; ENSP00000327467 ; ENSG00000183172 .
    ENST00000571525 ; ENSP00000459368 ; ENSG00000272901 .
    GeneIDi 91689.
    KEGGi hsa:91689.
    UCSCi uc003bca.3. human.

    Organism-specific databases

    CTDi 91689.
    GeneCardsi GC22P042476.
    H-InvDB HIX0019152.
    HGNCi HGNC:25055. SMDT1.
    HPAi HPA032117.
    MIMi 615588. gene.
    neXtProti NX_Q9H4I9.
    PharmGKBi PA145149451.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG282161.
    HOGENOMi HOG000018296.
    HOVERGENi HBG095170.
    InParanoidi Q9H4I9.
    OMAi GPSLRKD.
    PhylomeDBi Q9H4I9.
    TreeFami TF314649.

    Miscellaneous databases

    GenomeRNAii 91689.
    NextBioi 77399.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H4I9.
    Bgeei Q9H4I9.
    CleanExi HS_C22orf32.
    Genevestigatori Q9H4I9.

    Family and domain databases

    InterProi IPR018782. UPF0466.
    [Graphical view ]
    Pfami PF10161. DDDD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
      Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
      Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    2. "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: Cerebellum.
    3. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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], VARIANT GLY-46.
      Tissue: Brain.
    6. Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE UNIPLEX COMPLEX.

    Entry informationi

    Entry nameiEMRE_HUMAN
    AccessioniPrimary (citable) accession number: Q9H4I9
    Secondary accession number(s): B2R5D1, Q8TAB9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 24, 2007
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 79 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 22
      Human chromosome 22: 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