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O95202 (LETM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
LETM1 and EF-hand domain-containing protein 1, mitochondrial
Alternative name(s):
Leucine zipper-EF-hand-containing transmembrane protein 1
Gene names
Name:LETM1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length739 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain. Required for the maintenance of the tubular shape and cristae organization. Ref.7

Subunit structure

Can form 2 complexes: a major (300 kDa) and a minor complex (500-600 kDa). Interacts with BCS1L. Ref.7

Subcellular location

Mitochondrion inner membrane; Single-pass membrane protein Ref.5 Ref.6 Ref.7.

Sequence similarities

Contains 1 EF-hand domain.

Contains 1 LETM1 domain.

Sequence caution

The sequence CAB63769.2 differs from that shown. Reason: Erroneous translation. Incomplete prediction of CDS at the C-terminus.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95202-1)

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: O95202-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: MASILLRSCRGRAPARLPPPPRYTVPRGSPGDPAHLSCASTLGLRNCL → MRHTWPFR
     292-294: KIR → QVL
     295-739: Missing.
Note: May be due to intron retention. No experimental confirmation available.
Isoform 3 (identifier: O95202-3)

The sequence of this isoform differs from the canonical sequence as follows:
     292-294: KIR → QVL
     295-739: Missing.
Note: May be due to intron retention.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 115115Mitochondrion Potential
Chain116 – 739624LETM1 and EF-hand domain-containing protein 1, mitochondrial
PRO_0000017694

Regions

Topological domain116 – 20893Mitochondrial intermembrane Potential
Transmembrane209 – 22921Helical; Potential
Topological domain230 – 739510Mitochondrial matrix Potential
Domain150 – 418269LETM1
Domain663 – 69836EF-hand
Calcium binding676 – 68813 Potential
Coiled coil115 – 13622 Potential
Coiled coil462 – 49029 Potential
Coiled coil537 – 62791 Potential
Coiled coil708 – 73932 Potential
Compositional bias18 – 214Poly-Pro

Amino acid modifications

Modified residue5971N6-acetyllysine Ref.8

Natural variations

Alternative sequence1 – 4848MASIL…LRNCL → MRHTWPFR in isoform 2.
VSP_037814
Alternative sequence292 – 2943KIR → QVL in isoform 2 and isoform 3.
VSP_037815
Alternative sequence295 – 739445Missing in isoform 2 and isoform 3.
VSP_037816

Sequences

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

Last modified May 1, 1999. Version 1.
Checksum: 942E9138F299D94F

FASTA73983,354
        10         20         30         40         50         60 
MASILLRSCR GRAPARLPPP PRYTVPRGSP GDPAHLSCAS TLGLRNCLNV PFGCCTPIHP 

        70         80         90        100        110        120 
VYTSSRGDHL GCWALRPECL RIVSRAPWTS TSVGFVAVGP QCLPVRGWHS SRPVRDDSVV 

       130        140        150        160        170        180 
EKSLKSLKDK NKKLEEGGPV YSPPAEVVVK KSLGQRVLDE LKHYYHGFRL LWIDTKIAAR 

       190        200        210        220        230        240 
MLWRILNGHS LTRRERRQFL RICADLFRLV PFLVFVVVPF MEFLLPVAVK LFPNMLPSTF 

       250        260        270        280        290        300 
ETQSLKEERL KKELRVKLEL AKFLQDTIEE MALKNKAAKG SATKDFSVFF QKIRETGERP 

       310        320        330        340        350        360 
SNEEIMRFSK LFEDELTLDN LTRPQLVALC KLLELQSIGT NNFLRFQLTM RLRSIKADDK 

       370        380        390        400        410        420 
LIAEEGVDSL NVKELQAACR ARGMRALGVT EDRLRGQLKQ WLDLHLHQEI PTSLLILSRA 

       430        440        450        460        470        480 
MYLPDTLSPA DQLKSTLQTL PEIVAKEAQV KVAEVEGEQV DNKAKLEATL QEEAAIQQEH 

       490        500        510        520        530        540 
REKELQKRSE VAKDFEPERV VAAPQRPGTE PQPEMPDTVL QSETLKDTAP VLEGLKEEEI 

       550        560        570        580        590        600 
TKEEIDILSD ACSKLQEQKK SLTKEKEELE LLKEDVQDYS EDLQEIKKEL SKTGEEKYVE 

       610        620        630        640        650        660 
ESKASKRLTK RVQQMIGQID GLISQLEMDQ QAGKLAPANG MPTGENVISV AELINAMKQV 

       670        680        690        700        710        720 
KHIPESKLTS LAAALDENKD GKVNIDDLVK VIELVDKEDV HISTSQVAEI VATLEKEEKV 

       730 
EEKEKAKEKA EKEVAEVKS 

« Hide

Isoform 2 [UniParc].

Checksum: 5510CB4D93FFDDDE
Show »

FASTA25429,291
Isoform 3 [UniParc].

Checksum: 5C8B98ECA4D20E42
Show »

FASTA29433,245

References

« Hide 'large scale' references
[1]"LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients."
Endele S., Fuhry M., Pak S.-J., Zabel B.U., Winterpacht A.
Genomics 60:218-225(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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. 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] (ISOFORMS 2 AND 3).
Tissue: Cerebellum and Thymus.
[3]"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).
Tissue: Testis.
[4]"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: Brain and Skin.
[5]"LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein."
Schlickum S., Moghekar A., Simpson J.C., Steglich C., O'Brien R.J., Winterpacht A., Endele S.U.
Genomics 83:254-261(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[6]"The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome."
Nowikovsky K., Froschauer E.M., Zsurka G., Samaj J., Reipert S., Kolisek M., Wiesenberger G., Schweyen R.J.
J. Biol. Chem. 279:30307-30315(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[7]"Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L."
Tamai S., Iida H., Yokota S., Sayano T., Kiguchiya S., Ishihara N., Hayashi J., Mihara K., Oka T.
J. Cell Sci. 121:2588-2600(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, INTERACTION WITH BCS1L.
[8]"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-597, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF061025 mRNA. Translation: AAD13138.1.
AK293572 mRNA. Translation: BAG57043.1.
AK310563 mRNA. No translation available.
AL133650 mRNA. Translation: CAB63769.2. Sequence problems.
BC014500 mRNA. Translation: AAH14500.1.
BC021208 mRNA. Translation: AAH21208.1.
CCDSCCDS3355.1. [O95202-1]
PIRT43494.
RefSeqNP_036450.1. NM_012318.2. [O95202-1]
UniGeneHs.120165.

3D structure databases

ProteinModelPortalO95202.
SMRO95202. Positions 252-418.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110145. 8 interactions.
IntActO95202. 6 interactions.
MINTMINT-3002664.
STRING9606.ENSP00000305653.

Protein family/group databases

TCDB2.A.97.1.1. the mitochondrial inner membrane k(+)/h(+) and ca(2+)/h(+) exchanger (letm1) family.

PTM databases

PhosphoSiteO95202.

Proteomic databases

MaxQBO95202.
PaxDbO95202.
PeptideAtlasO95202.
PRIDEO95202.

Protocols and materials databases

DNASU3954.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000302787; ENSP00000305653; ENSG00000168924. [O95202-1]
GeneID3954.
KEGGhsa:3954.
UCSCuc003gdv.3. human. [O95202-1]
uc011bvg.2. human. [O95202-3]

Organism-specific databases

CTD3954.
GeneCardsGC04M001781.
HGNCHGNC:6556. LETM1.
HPAHPA011029.
HPA011100.
MIM604407. gene.
neXtProtNX_O95202.
Orphanet280. Wolf-Hirschhorn syndrome.
PharmGKBPA30335.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG243495.
HOGENOMHOG000290246.
HOVERGENHBG052322.
InParanoidO95202.
KOK17800.
OMAHQEIPTS.
OrthoDBEOG79PJNQ.
PhylomeDBO95202.
TreeFamTF316321.

Gene expression databases

ArrayExpressO95202.
BgeeO95202.
CleanExHS_LETM1.
GenevestigatorO95202.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR011685. LETM1.
[Graphical view]
PfamPF07766. LETM1. 1 hit.
[Graphical view]
PROSITEPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLETM1. human.
GeneWikiLETM1.
GenomeRNAi3954.
NextBio15513.
PROO95202.
SOURCESearch...

Entry information

Entry nameLETM1_HUMAN
AccessionPrimary (citable) accession number: O95202
Secondary accession number(s): B4DED2, Q9UF65
Entry history
Integrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 118 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM