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Q9H4I9

- EMRE_HUMAN

UniProt

Q9H4I9 - EMRE_HUMAN

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Protein

Essential MCU regulator, mitochondrial

Gene

SMDT1

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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9H4I9.
CleanExiHS_C22orf32.
ExpressionAtlasiQ9H4I9. baseline and differential.
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

BioGridi124866. 3 interactions.
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.
GeneTreeiENSGT00390000017489.
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 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MASGAARWLV LAPVRSGALR SGPSLRKDGD VSAAWSGSGR SLVPSRSVIV
60 70 80 90 100
TRSGAILPKP VKMSFGLLRV FSIVIPFLYV GTLISKNFAA LLEEHDIFVP

EDDDDDD
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

BioGridi 124866. 3 interactions.
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.
GeneTreei ENSGT00390000017489.
HOGENOMi HOG000018296.
HOVERGENi HBG095170.
InParanoidi Q9H4I9.
OMAi GPSLRKD.
PhylomeDBi Q9H4I9.
TreeFami TF314649.

Miscellaneous databases

GenomeRNAii 91689.
NextBioi 77399.
SOURCEi Search...

Gene expression databases

Bgeei Q9H4I9.
CleanExi HS_C22orf32.
ExpressionAtlasi Q9H4I9. baseline and differential.
Genevestigatori Q9H4I9.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 80 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