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Q16891

- IMMT_HUMAN

UniProt

Q16891 - IMMT_HUMAN

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Protein

Mitochondrial inner membrane protein

Gene
IMMT, HMP, MINOS2, PIG4, PIG52
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB
  2. protein binding Source: UniProtKB

GO - Biological processi

  1. mitochondrial calcium ion homeostasis Source: Ensembl
  2. response to cold Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial inner membrane protein
Alternative name(s):
Cell proliferation-inducing gene 4/52 protein
Mitofilin
p87/89
Gene namesi
Name:IMMT
Synonyms:HMP, MINOS2
ORF Names:PIG4, PIG52
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:6047. IMMT.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4545Mitochondrial matrix Reviewed predictionAdd
BLAST
Transmembranei46 – 6419Helical; Reviewed predictionAdd
BLAST
Topological domaini65 – 758694Mitochondrial intermembrane Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: UniProtKB
  3. mitochondrion Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29858.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 758758Mitochondrial inner membrane proteinPRO_0000084184Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei211 – 2111N6-acetyllysine1 Publication
Modified residuei222 – 2221N6-acetyllysine1 Publication
Modified residuei451 – 4511N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ16891.
PaxDbiQ16891.
PRIDEiQ16891.

2D gel databases

REPRODUCTION-2DPAGEIPI00554469.
Q16891.

PTM databases

PhosphoSiteiQ16891.

Expressioni

Gene expression databases

ArrayExpressiQ16891.
BgeeiQ16891.
GenevestigatoriQ16891.

Organism-specific databases

HPAiCAB022439.
HPA036164.
HPA036165.

Interactioni

Subunit structurei

Interacts with OPA1, preferentially with the soluble OPA1 form. Component of the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3 and associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2. Interacts with CHCHD6; the interaction is direct.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
KDM1AO603412EBI-473801,EBI-710124

Protein-protein interaction databases

BioGridi116185. 88 interactions.
DIPiDIP-32517N.
IntActiQ16891. 69 interactions.
MINTiMINT-1034498.

Structurei

3D structure databases

ProteinModelPortaliQ16891.

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG307662.
HOVERGENiHBG039233.
InParanoidiQ16891.
KOiK17785.
OMAiQKQKGDT.
PhylomeDBiQ16891.
TreeFamiTF312832.

Family and domain databases

InterProiIPR019133. Mt-IM_prot_Mitofilin.
[Graphical view]
PfamiPF09731. Mitofilin. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q16891-1) [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

MLRACQLSGV TAAAQSCLCG KFVLRPLRPC RRYSTSGSSG LTTGKIAGAG    50
LLFVGGGIGG TILYAKWDSH FRESVEKTIP YSDKLFEMVL GPAAYNVPLP 100
KKSIQSGPLK ISSVSEVMKE SKQPASQLQK QKGDTPASAT APTEAAQIIS 150
AAGDTLSVPA PAVQPEESLK TDHPEIGEGK PTPALSEEAS SSSIRERPPE 200
EVAARLAQQE KQEQVKIESL AKSLEDALRQ TASVTLQAIA AQNAAVQAVN 250
AHSNILKAAM DNSEIAGEKK SAQWRTVEGA LKERRKAVDE AADALLKAKE 300
ELEKMKSVIE NAKKKEVAGA KPHITAAEGK LHNMIVDLDN VVKKVQAAQS 350
EAKVVSQYHE LVVQARDDFK RELDSITPEV LPGWKGMSVS DLADKLSTDD 400
LNSLIAHAHR RIDQLNRELA EQKATEKQHI TLALEKQKLE EKRAFDSAVA 450
KALEHHRSEI QAEQDRKIEE VRDAMENEMR TQLRRQAAAH TDHLRDVLRV 500
QEQELKSEFE QNLSEKLSEQ ELQFRRLSQE QVDNFTLDIN TAYARLRGIE 550
QAVQSHAVAE EEARKAHQLW LSVEALKYSM KTSSAETPTI PLGSAVEAIK 600
ANCSDNEFTQ ALTAAIPPES LTRGVYSEET LRARFYAVQK LARRVAMIDE 650
TRNSLYQYFL SYLQSLLLFP PQQLKPPPEL CPEDINTFKL LSYASYCIEH 700
GDLELAAKFV NQLKGESRRV AQDWLKEARM TLETKQIVEI LTAYASAVGI 750
GTTQVQPE 758
Length:758
Mass (Da):83,678
Last modified:November 1, 1996 - v1
Checksum:i357F25DCABB02E50
GO
Isoform 2 (identifier: Q16891-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     142-152: Missing.

Show »
Length:747
Mass (Da):82,625
Checksum:i93538DAF3109239E
GO
Isoform 3 (identifier: Q16891-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     187-219: EEASSSSIRERPPEEVAARLAQQEKQEQVKIES → A

Show »
Length:726
Mass (Da):80,027
Checksum:iA5125F3BA3333D1E
GO
Isoform 4 (identifier: Q16891-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     188-188: Missing.

Show »
Length:757
Mass (Da):83,549
Checksum:i3481C463522B8DDB
GO

Sequence cautioni

The sequence CAH18389.1 differs from that shown. Reason: Erroneous termination at position 759. Translated as stop.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241P → S.2 Publications
Corresponds to variant rs6750289 [ dbSNP | Ensembl ].
VAR_021530
Natural varianti294 – 2941A → V.
Corresponds to variant rs35233009 [ dbSNP | Ensembl ].
VAR_051068

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei142 – 15211Missing in isoform 2. VSP_013220Add
BLAST
Alternative sequencei187 – 21933EEASS…VKIES → A in isoform 3. VSP_013221Add
BLAST
Alternative sequencei188 – 1881Missing in isoform 4. VSP_047362

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti144 – 1518EAAQIISA → ARAPASLT in AAF73126. 1 Publication
Sequence conflicti151 – 1511A → S in CAG33074. 1 Publication
Sequence conflicti154 – 1541D → E in BAG35183. 1 Publication
Sequence conflicti173 – 1731H → Y in AAF73126. 1 Publication
Sequence conflicti312 – 3121A → T in AAF73126. 1 Publication
Sequence conflicti325 – 3251T → S in AAF73126. 1 Publication
Sequence conflicti388 – 3936SVSDLA → T in AAF73126. 1 Publication
Sequence conflicti432 – 4321L → S in CAH18389. 1 Publication
Sequence conflicti449 – 4491V → A in CAH18389. 1 Publication
Sequence conflicti731 – 7311T → A in CAH18389. 1 Publication
Sequence conflicti758 – 7581E → D in CAG33074. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D21091 mRNA. Translation: BAA04653.1.
D21092 mRNA. Translation: BAA04654.1.
D21093 mRNA. Translation: BAA04655.1.
D21094 mRNA. Translation: BAA04656.1.
L42572 mRNA. Translation: AAA85336.1.
CR456793 mRNA. Translation: CAG33074.1.
AK312251 mRNA. Translation: BAG35183.1.
AY232292 mRNA. Translation: AAP69987.1.
AY921637 mRNA. Translation: AAX10024.1.
BX537369 mRNA. Translation: CAD97612.1.
CR749590 mRNA. Translation: CAH18389.1. Different termination.
BC002412 mRNA. Translation: AAH02412.1.
BC027458 mRNA. Translation: AAH27458.1.
AF148646 mRNA. Translation: AAF73126.1.
CCDSiCCDS46355.1. [Q16891-1]
CCDS46356.1. [Q16891-4]
CCDS46357.1. [Q16891-2]
RefSeqiNP_001093639.1. NM_001100169.1. [Q16891-4]
NP_001093640.1. NM_001100170.1. [Q16891-2]
NP_006830.2. NM_006839.2. [Q16891-1]
XP_005264170.1. XM_005264113.1. [Q16891-3]
UniGeneiHs.148559.

Genome annotation databases

EnsembliENST00000410111; ENSP00000387262; ENSG00000132305. [Q16891-1]
ENST00000442664; ENSP00000407788; ENSG00000132305. [Q16891-4]
ENST00000449247; ENSP00000396899; ENSG00000132305. [Q16891-2]
GeneIDi10989.
KEGGihsa:10989.
UCSCiuc002sqy.4. human. [Q16891-1]
uc002srb.4. human. [Q16891-2]

Polymorphism databases

DMDMi29427676.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D21091 mRNA. Translation: BAA04653.1 .
D21092 mRNA. Translation: BAA04654.1 .
D21093 mRNA. Translation: BAA04655.1 .
D21094 mRNA. Translation: BAA04656.1 .
L42572 mRNA. Translation: AAA85336.1 .
CR456793 mRNA. Translation: CAG33074.1 .
AK312251 mRNA. Translation: BAG35183.1 .
AY232292 mRNA. Translation: AAP69987.1 .
AY921637 mRNA. Translation: AAX10024.1 .
BX537369 mRNA. Translation: CAD97612.1 .
CR749590 mRNA. Translation: CAH18389.1 . Different termination.
BC002412 mRNA. Translation: AAH02412.1 .
BC027458 mRNA. Translation: AAH27458.1 .
AF148646 mRNA. Translation: AAF73126.1 .
CCDSi CCDS46355.1. [Q16891-1 ]
CCDS46356.1. [Q16891-4 ]
CCDS46357.1. [Q16891-2 ]
RefSeqi NP_001093639.1. NM_001100169.1. [Q16891-4 ]
NP_001093640.1. NM_001100170.1. [Q16891-2 ]
NP_006830.2. NM_006839.2. [Q16891-1 ]
XP_005264170.1. XM_005264113.1. [Q16891-3 ]
UniGenei Hs.148559.

3D structure databases

ProteinModelPortali Q16891.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116185. 88 interactions.
DIPi DIP-32517N.
IntActi Q16891. 69 interactions.
MINTi MINT-1034498.

PTM databases

PhosphoSitei Q16891.

Polymorphism databases

DMDMi 29427676.

2D gel databases

REPRODUCTION-2DPAGE IPI00554469.
Q16891.

Proteomic databases

MaxQBi Q16891.
PaxDbi Q16891.
PRIDEi Q16891.

Protocols and materials databases

DNASUi 10989.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000410111 ; ENSP00000387262 ; ENSG00000132305 . [Q16891-1 ]
ENST00000442664 ; ENSP00000407788 ; ENSG00000132305 . [Q16891-4 ]
ENST00000449247 ; ENSP00000396899 ; ENSG00000132305 . [Q16891-2 ]
GeneIDi 10989.
KEGGi hsa:10989.
UCSCi uc002sqy.4. human. [Q16891-1 ]
uc002srb.4. human. [Q16891-2 ]

Organism-specific databases

CTDi 10989.
GeneCardsi GC02M086282.
HGNCi HGNC:6047. IMMT.
HPAi CAB022439.
HPA036164.
HPA036165.
MIMi 600378. gene.
neXtProti NX_Q16891.
PharmGKBi PA29858.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG307662.
HOVERGENi HBG039233.
InParanoidi Q16891.
KOi K17785.
OMAi QKQKGDT.
PhylomeDBi Q16891.
TreeFami TF312832.

Miscellaneous databases

ChiTaRSi IMMT. human.
GeneWikii IMMT.
GenomeRNAii 10989.
NextBioi 41751.
PROi Q16891.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q16891.
Bgeei Q16891.
Genevestigatori Q16891.

Family and domain databases

InterProi IPR019133. Mt-IM_prot_Mitofilin.
[Graphical view ]
Pfami PF09731. Mitofilin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel human gene that is preferentially transcribed in heart muscle."
    Icho T., Ikeda T., Matsumoto Y., Hanaoka F., Kaji K., Tsuchida N.
    Gene 144:301-306(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Mitofilin is a transmembrane protein of the inner mitochondrial membrane expressed as two isoforms."
    Gieffers C., Korioth F., Heimann P., Ungermann C., Frey J.
    Exp. Cell Res. 232:395-399(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-124.
  3. "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] (ISOFORM 1).
  4. "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] (ISOFORM 1).
  5. "Identification of a human cell proliferation gene."
    Kim J.W., Kim H.K., Shin S.M.
    Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 159-758 (ISOFORM 3), VARIANT SER-124.
    Tissue: Colon endothelium and Fetal liver.
  7. "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: Cervix and Muscle.
  8. Bienvenut W.V.
    Submitted (APR-2005) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 85-101; 103-119; 123-130; 171-195; 223-229; 258-269; 287-297; 316-343; 345-366; 386-395; 428-436; 500-525; 548-564; 582-600; 624-632; 645-652 AND 720-726, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: B-cell lymphoma.
  9. "Detection of membrane-associated proteins using serum of mice immunized with membrane fractions of breast carcinoma cells."
    Weidenmueller U., Tur M.K., Tawadros S., Engert A., Barth S.
    Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 144-758 (ISOFORM 1).
    Tissue: Mammary carcinoma.
  10. Lubec G., Afjehi-Sadat L., Chen W.-Q., Sun Y.
    Submitted (DEC-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 354-366; 372-385; 517-525; 527-545; 548-564 AND 601-623, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Brain, Cajal-Retzius cell and Fetal brain cortex.
  11. "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-211; LYS-222 AND LYS-451, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function."
    Darshi M., Mendiola V.L., Mackey M.R., Murphy A.N., Koller A., Perkins G.A., Ellisman M.H., Taylor S.S.
    J. Biol. Chem. 286:2918-2932(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CHCHD3 AND OPA1.
  14. "MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization."
    Alkhaja A.K., Jans D.C., Nikolov M., Vukotic M., Lytovchenko O., Ludewig F., Schliebs W., Riedel D., Urlaub H., Jakobs S., Deckers M.
    Mol. Biol. Cell 23:247-257(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE MINOS/MITOS COMPLEX.
  15. "CHCM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology."
    An J., Shi J., He Q., Lui K., Liu Y., Huang Y., Sheikh M.S.
    J. Biol. Chem. 287:7411-7426(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CHCHD6.

Entry informationi

Entry nameiIMMT_HUMAN
AccessioniPrimary (citable) accession number: Q16891
Secondary accession number(s): B1H0U5
, B2R5N6, Q14539, Q15092, Q68D41, Q69HW5, Q6IBL0, Q7Z3X1, Q8TAJ5, Q9P0V2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: November 1, 1996
Last modified: September 3, 2014
This is version 130 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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

External Data

Dasty 3

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