Q16891 (IMMT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	758 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Acetylation
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	mitochondrial calcium ion homeostasis Inferred from electronic annotation. Source: Compara response to cold Inferred from electronic annotation. Source: Compara
Cellular_component	integral to mitochondrial inner membrane Inferred from electronic annotation. Source: InterPro mitochondrial inner membrane Inferred from direct assay Ref.2. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
KDM1A	O60341	2	EBI-473801,EBI-710124

Alternative products

This entry describes 3 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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 758	758	Mitochondrial inner membrane protein		PRO_0000084184
Regions
	Topological domain	1 – 45	45	Mitochondrial matrix Potential
	Transmembrane	46 – 64	19	Helical; Potential
	Topological domain	65 – 758	694	Mitochondrial intermembrane Potential
Amino acid modifications
	Modified residue	211	1	N6-acetyllysine Ref.11
	Modified residue	222	1	N6-acetyllysine Ref.11
	Modified residue	451	1	N6-acetyllysine Ref.11
	Modified residue	506	1	N6-acetyllysine By similarity
Natural variations
	Alternative sequence	142 – 152	11	Missing in isoform 2.		VSP_013220
	Alternative sequence	187 – 219	33	EEASS…VKIES → A in isoform 3.		VSP_013221
	Natural variant	124	1	P → S. Ref.2 Ref.6 Corresponds to variant rs6750289 [ dbSNP | Ensembl ].		VAR_021530
	Natural variant	294	1	A → V. Corresponds to variant rs35233009 [ dbSNP | Ensembl ].		VAR_051068
Experimental info
	Sequence conflict	144 – 151	8	EAAQIISA → ARAPASLT in AAF73126. Ref.9
	Sequence conflict	151	1	A → S in CAG33074. Ref.3
	Sequence conflict	154	1	D → E in BAG35183. Ref.4
	Sequence conflict	173	1	H → Y in AAF73126. Ref.9
	Sequence conflict	188 – 189	2	EA → AS in AAP69987. Ref.5
	Sequence conflict	193	1	Missing in AAP69987. Ref.5
	Sequence conflict	312	1	A → T in AAF73126. Ref.9
	Sequence conflict	325	1	T → S in AAF73126. Ref.9
	Sequence conflict	388 – 393	6	SVSDLA → T in AAF73126. Ref.9
	Sequence conflict	432	1	L → S in CAH18389. Ref.6
	Sequence conflict	449	1	V → A in CAH18389. Ref.6
	Sequence conflict	731	1	T → A in CAH18389. Ref.6
	Sequence conflict	758	1	E → D in CAG33074. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 357F25DCABB02E50	FASTA	758	83,678
	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
	Isoform 2 [UniParc]. Checksum: 93538DAF3109239E	FASTA	747	82,625
	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 AGDTLSVPAP AVQPEESLKT DHPEIGEGKP TPALSEEASS 190 200 210 220 230 240 SSIRERPPEE VAARLAQQEK QEQVKIESLA KSLEDALRQT ASVTLQAIAA QNAAVQAVNA 250 260 270 280 290 300 HSNILKAAMD NSEIAGEKKS AQWRTVEGAL KERRKAVDEA ADALLKAKEE LEKMKSVIEN 310 320 330 340 350 360 AKKKEVAGAK PHITAAEGKL HNMIVDLDNV VKKVQAAQSE AKVVSQYHEL VVQARDDFKR 370 380 390 400 410 420 ELDSITPEVL PGWKGMSVSD LADKLSTDDL NSLIAHAHRR IDQLNRELAE QKATEKQHIT 430 440 450 460 470 480 LALEKQKLEE KRAFDSAVAK ALEHHRSEIQ AEQDRKIEEV RDAMENEMRT QLRRQAAAHT 490 500 510 520 530 540 DHLRDVLRVQ EQELKSEFEQ NLSEKLSEQE LQFRRLSQEQ VDNFTLDINT AYARLRGIEQ 550 560 570 580 590 600 AVQSHAVAEE EARKAHQLWL SVEALKYSMK TSSAETPTIP LGSAVEAIKA NCSDNEFTQA 610 620 630 640 650 660 LTAAIPPESL TRGVYSEETL RARFYAVQKL ARRVAMIDET RNSLYQYFLS YLQSLLLFPP 670 680 690 700 710 720 QQLKPPPELC PEDINTFKLL SYASYCIEHG DLELAAKFVN QLKGESRRVA QDWLKEARMT 730 740 LETKQIVEIL TAYASAVGIG TTQVQPE
	Isoform 3 [UniParc]. Checksum: A5125F3BA3333D1E	FASTA	726	80,027
	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 PTPALSALAK SLEDALRQTA SVTLQAIAAQ NAAVQAVNAH SNILKAAMDN SEIAGEKKSA 250 260 270 280 290 300 QWRTVEGALK ERRKAVDEAA DALLKAKEEL EKMKSVIENA KKKEVAGAKP HITAAEGKLH 310 320 330 340 350 360 NMIVDLDNVV KKVQAAQSEA KVVSQYHELV VQARDDFKRE LDSITPEVLP GWKGMSVSDL 370 380 390 400 410 420 ADKLSTDDLN SLIAHAHRRI DQLNRELAEQ KATEKQHITL ALEKQKLEEK RAFDSAVAKA 430 440 450 460 470 480 LEHHRSEIQA EQDRKIEEVR DAMENEMRTQ LRRQAAAHTD HLRDVLRVQE QELKSEFEQN 490 500 510 520 530 540 LSEKLSEQEL QFRRLSQEQV DNFTLDINTA YARLRGIEQA VQSHAVAEEE ARKAHQLWLS 550 560 570 580 590 600 VEALKYSMKT SSAETPTIPL GSAVEAIKAN CSDNEFTQAL TAAIPPESLT RGVYSEETLR 610 620 630 640 650 660 ARFYAVQKLA RRVAMIDETR NSLYQYFLSY LQSLLLFPPQ QLKPPPELCP EDINTFKLLS 670 680 690 700 710 720 YASYCIEHGD LELAAKFVNQ LKGESRRVAQ DWLKEARMTL ETKQIVEILT AYASAVGIGT TQVQPE

References

	« Hide 'large scale' referencesShow '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. , 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 1).
[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, 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, 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, MASS SPECTROMETRY.
[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.
IPI	IPI00009960. IPI00554469. IPI01015181.
RefSeq	NP_001093639.1. NM_001100169.1. NP_001093640.1. NM_001100170.1. NP_006830.2. NM_006839.2.
UniGene	Hs.148559.
3D structure databases
ProteinModelPortal	Q16891.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-32517N.
IntAct	Q16891. 49 interactions.
MINT	MINT-1034498.
PTM databases
PhosphoSite	Q16891.
Polymorphism databases
DMDM	29427676.
2D gel databases
REPRODUCTION-2DPAGE	IPI00554469. Q16891.
Proteomic databases
PaxDb	Q16891.
PRIDE	Q16891.
Protocols and materials databases
DNASU	10989.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000410111; ENSP00000387262; ENSG00000132305. ENST00000442664; ENSP00000407788; ENSG00000132305. ENST00000449247; ENSP00000396899; ENSG00000132305.
GeneID	10989.
KEGG	hsa:10989.
UCSC	uc002sqy.4. human. uc002srb.4. human.
Organism-specific databases
CTD	10989.
GeneCards	GC02M086282.
HGNC	HGNC:6047. IMMT.
HPA	CAB022439.
MIM	600378. gene.
neXtProt	NX_Q16891.
PharmGKB	PA29858.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG307662.
HOVERGEN	HBG039233.
InParanoid	Q16891.
OMA	QDRKVEE.
Gene expression databases
ArrayExpress	Q16891.
Bgee	Q16891.
Genevestigator	Q16891.
GermOnline	ENSG00000132305. Homo sapiens.
Family and domain databases
InterPro	IPR019133. Mt-IM_prot_Mitofilin. [Graphical view]
Pfam	PF09731. Mitofilin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	IMMT. human.
GenomeRNAi	10989.
NextBio	41751.
SOURCE	Search...

Entry information

Entry name

IMMT_HUMAN

Accession

Primary (citable) accession number: Q16891
Secondary accession number(s): B1H0U5 , 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 3, 2013
This is version 117 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.