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Q16891 (IMMT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial inner membrane protein
Alternative name(s):
Cell proliferation-inducing gene 4/52 protein
Mitofilin
p87/89
Gene names
Name:IMMT
Synonyms:HMP, MINOS2
ORF Names:PIG4, PIG52
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length758 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

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. Ref.13 Ref.14 Ref.15

Subcellular location

Mitochondrion inner membrane.

Sequence caution

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

Binary interactions

With

Entry

#Exp.

IntAct

Notes

KDM1AO603412EBI-473801,EBI-710124

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q16891-1)

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.
Isoform 2 (identifier: Q16891-2)

The sequence of this isoform differs from the canonical sequence as follows:
     142-152: Missing.
Isoform 3 (identifier: Q16891-3)

The sequence of this isoform differs from the canonical sequence as follows:
     187-219: EEASSSSIRERPPEEVAARLAQQEKQEQVKIES → A
Isoform 4 (identifier: Q16891-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 758758Mitochondrial inner membrane protein
PRO_0000084184

Regions

Topological domain1 – 4545Mitochondrial matrix Potential
Transmembrane46 – 6419Helical; Potential
Topological domain65 – 758694Mitochondrial intermembrane Potential

Amino acid modifications

Modified residue2111N6-acetyllysine Ref.11
Modified residue2221N6-acetyllysine Ref.11
Modified residue4511N6-acetyllysine Ref.11

Natural variations

Alternative sequence142 – 15211Missing in isoform 2.
VSP_013220
Alternative sequence187 – 21933EEASS…VKIES → A in isoform 3.
VSP_013221
Alternative sequence1881Missing in isoform 4.
VSP_047362
Natural variant1241P → S. Ref.2 Ref.6
Corresponds to variant rs6750289 [ dbSNP | Ensembl ].
VAR_021530
Natural variant2941A → V.
Corresponds to variant rs35233009 [ dbSNP | Ensembl ].
VAR_051068

Experimental info

Sequence conflict144 – 1518EAAQIISA → ARAPASLT in AAF73126. Ref.9
Sequence conflict1511A → S in CAG33074. Ref.3
Sequence conflict1541D → E in BAG35183. Ref.4
Sequence conflict1731H → Y in AAF73126. Ref.9
Sequence conflict3121A → T in AAF73126. Ref.9
Sequence conflict3251T → S in AAF73126. Ref.9
Sequence conflict388 – 3936SVSDLA → T in AAF73126. Ref.9
Sequence conflict4321L → S in CAH18389. Ref.6
Sequence conflict4491V → A in CAH18389. Ref.6
Sequence conflict7311T → A in CAH18389. Ref.6
Sequence conflict7581E → D in CAG33074. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 357F25DCABB02E50

FASTA75883,678
        10         20         30         40         50         60 
MLRACQLSGV TAAAQSCLCG KFVLRPLRPC RRYSTSGSSG LTTGKIAGAG LLFVGGGIGG 

        70         80         90        100        110        120 
TILYAKWDSH FRESVEKTIP YSDKLFEMVL GPAAYNVPLP KKSIQSGPLK ISSVSEVMKE 

       130        140        150        160        170        180 
SKQPASQLQK QKGDTPASAT APTEAAQIIS AAGDTLSVPA PAVQPEESLK TDHPEIGEGK 

       190        200        210        220        230        240 
PTPALSEEAS SSSIRERPPE EVAARLAQQE KQEQVKIESL AKSLEDALRQ TASVTLQAIA 

       250        260        270        280        290        300 
AQNAAVQAVN AHSNILKAAM DNSEIAGEKK SAQWRTVEGA LKERRKAVDE AADALLKAKE 

       310        320        330        340        350        360 
ELEKMKSVIE NAKKKEVAGA KPHITAAEGK LHNMIVDLDN VVKKVQAAQS EAKVVSQYHE 

       370        380        390        400        410        420 
LVVQARDDFK RELDSITPEV LPGWKGMSVS DLADKLSTDD LNSLIAHAHR RIDQLNRELA 

       430        440        450        460        470        480 
EQKATEKQHI TLALEKQKLE EKRAFDSAVA KALEHHRSEI QAEQDRKIEE VRDAMENEMR 

       490        500        510        520        530        540 
TQLRRQAAAH TDHLRDVLRV QEQELKSEFE QNLSEKLSEQ ELQFRRLSQE QVDNFTLDIN 

       550        560        570        580        590        600 
TAYARLRGIE QAVQSHAVAE EEARKAHQLW LSVEALKYSM KTSSAETPTI PLGSAVEAIK 

       610        620        630        640        650        660 
ANCSDNEFTQ ALTAAIPPES LTRGVYSEET LRARFYAVQK LARRVAMIDE TRNSLYQYFL 

       670        680        690        700        710        720 
SYLQSLLLFP PQQLKPPPEL CPEDINTFKL LSYASYCIEH GDLELAAKFV NQLKGESRRV 

       730        740        750 
AQDWLKEARM TLETKQIVEI LTAYASAVGI GTTQVQPE 

« Hide

Isoform 2 [UniParc].

Checksum: 93538DAF3109239E
Show »

FASTA74782,625
Isoform 3 [UniParc].

Checksum: A5125F3BA3333D1E
Show »

FASTA72680,027
Isoform 4 [UniParc].

Checksum: 3481C463522B8DDB
Show »

FASTA75783,549

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001093639.1. NM_001100169.1.
NP_001093640.1. NM_001100170.1.
NP_006830.2. NM_006839.2.
XP_005264170.1. XM_005264113.1.
UniGeneHs.148559.

3D structure databases

ProteinModelPortalQ16891.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116185. 84 interactions.
DIPDIP-32517N.
IntActQ16891. 69 interactions.
MINTMINT-1034498.

PTM databases

PhosphoSiteQ16891.

Polymorphism databases

DMDM29427676.

2D gel databases

REPRODUCTION-2DPAGEIPI00554469.
Q16891.

Proteomic databases

PaxDbQ16891.
PRIDEQ16891.

Protocols and materials databases

DNASU10989.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000410111; ENSP00000387262; ENSG00000132305. [Q16891-1]
ENST00000442664; ENSP00000407788; ENSG00000132305. [Q16891-4]
ENST00000449247; ENSP00000396899; ENSG00000132305. [Q16891-2]
GeneID10989.
KEGGhsa:10989.
UCSCuc002sqy.4. human. [Q16891-1]
uc002srb.4. human. [Q16891-2]

Organism-specific databases

CTD10989.
GeneCardsGC02M086282.
HGNCHGNC:6047. IMMT.
HPACAB022439.
HPA036164.
HPA036165.
MIM600378. gene.
neXtProtNX_Q16891.
PharmGKBPA29858.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG307662.
HOVERGENHBG039233.
InParanoidQ16891.
KOK17785.
OMAQKQKGDT.
PhylomeDBQ16891.
TreeFamTF312832.

Gene expression databases

ArrayExpressQ16891.
BgeeQ16891.
GenevestigatorQ16891.

Family and domain databases

InterProIPR019133. Mt-IM_prot_Mitofilin.
[Graphical view]
PfamPF09731. Mitofilin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSIMMT. human.
GeneWikiIMMT.
GenomeRNAi10989.
NextBio41751.
PROQ16891.
SOURCESearch...

Entry information

Entry nameIMMT_HUMAN
AccessionPrimary (citable) accession number: Q16891
Secondary accession number(s): B1H0U5 expand/collapse secondary AC list , B2R5N6, Q14539, Q15092, Q68D41, Q69HW5, Q6IBL0, Q7Z3X1, Q8TAJ5, Q9P0V2
Entry history
Integrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM