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O95202

- LETM1_HUMAN

UniProt

O95202 - LETM1_HUMAN

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Protein

LETM1 and EF-hand domain-containing protein 1, mitochondrial

Gene
LETM1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi676 – 68813 Reviewed predictionAdd
BLAST

GO - Molecular functioni

  1. calcium ion binding Source: ProtInc
  2. protein binding Source: UniProtKB

GO - Biological processi

  1. cristae formation Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Protein family/group databases

TCDBi2.A.97.1.1. the mitochondrial inner membrane k(+)/h(+) and ca(2+)/h(+) exchanger (letm1) family.

Names & Taxonomyi

Protein namesi
Recommended name:
LETM1 and EF-hand domain-containing protein 1, mitochondrial
Alternative name(s):
Leucine zipper-EF-hand-containing transmembrane protein 1
Gene namesi
Name:LETM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:6556. LETM1.

Subcellular locationi

Mitochondrion inner membrane; Single-pass membrane protein 3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini116 – 20893Mitochondrial intermembrane Reviewed predictionAdd
BLAST
Transmembranei209 – 22921Helical; Reviewed predictionAdd
BLAST
Topological domaini230 – 739510Mitochondrial matrix Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

Orphaneti280. Wolf-Hirschhorn syndrome.
PharmGKBiPA30335.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 115115Mitochondrion Reviewed predictionAdd
BLAST
Chaini116 – 739624LETM1 and EF-hand domain-containing protein 1, mitochondrialPRO_0000017694Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei597 – 5971N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO95202.
PaxDbiO95202.
PeptideAtlasiO95202.
PRIDEiO95202.

PTM databases

PhosphoSiteiO95202.

Expressioni

Gene expression databases

ArrayExpressiO95202.
BgeeiO95202.
CleanExiHS_LETM1.
GenevestigatoriO95202.

Organism-specific databases

HPAiHPA011029.
HPA011100.

Interactioni

Subunit structurei

Can form 2 complexes: a major (300 kDa) and a minor complex (500-600 kDa). Interacts with BCS1L.1 Publication

Protein-protein interaction databases

BioGridi110145. 8 interactions.
IntActiO95202. 6 interactions.
MINTiMINT-3002664.
STRINGi9606.ENSP00000305653.

Structurei

3D structure databases

ProteinModelPortaliO95202.
SMRiO95202. Positions 252-418.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini150 – 418269LETM1Add
BLAST
Domaini663 – 69836EF-handAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili115 – 13622 Reviewed predictionAdd
BLAST
Coiled coili462 – 49029 Reviewed predictionAdd
BLAST
Coiled coili537 – 62791 Reviewed predictionAdd
BLAST
Coiled coili708 – 73932 Reviewed predictionAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi18 – 214Poly-Pro

Sequence similaritiesi

Contains 1 EF-hand domain.
Contains 1 LETM1 domain.

Keywords - Domaini

Coiled coil, Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG243495.
HOGENOMiHOG000290246.
HOVERGENiHBG052322.
InParanoidiO95202.
KOiK17800.
OMAiHQEIPTS.
OrthoDBiEOG79PJNQ.
PhylomeDBiO95202.
TreeFamiTF316321.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR011685. LETM1.
[Graphical view]
PfamiPF07766. LETM1. 1 hit.
[Graphical view]
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O95202-1) [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

MASILLRSCR GRAPARLPPP PRYTVPRGSP GDPAHLSCAS TLGLRNCLNV    50
PFGCCTPIHP VYTSSRGDHL GCWALRPECL RIVSRAPWTS TSVGFVAVGP 100
QCLPVRGWHS SRPVRDDSVV EKSLKSLKDK NKKLEEGGPV YSPPAEVVVK 150
KSLGQRVLDE LKHYYHGFRL LWIDTKIAAR MLWRILNGHS LTRRERRQFL 200
RICADLFRLV PFLVFVVVPF MEFLLPVAVK LFPNMLPSTF ETQSLKEERL 250
KKELRVKLEL AKFLQDTIEE MALKNKAAKG SATKDFSVFF QKIRETGERP 300
SNEEIMRFSK LFEDELTLDN LTRPQLVALC KLLELQSIGT NNFLRFQLTM 350
RLRSIKADDK LIAEEGVDSL NVKELQAACR ARGMRALGVT EDRLRGQLKQ 400
WLDLHLHQEI PTSLLILSRA MYLPDTLSPA DQLKSTLQTL PEIVAKEAQV 450
KVAEVEGEQV DNKAKLEATL QEEAAIQQEH REKELQKRSE VAKDFEPERV 500
VAAPQRPGTE PQPEMPDTVL QSETLKDTAP VLEGLKEEEI TKEEIDILSD 550
ACSKLQEQKK SLTKEKEELE LLKEDVQDYS EDLQEIKKEL SKTGEEKYVE 600
ESKASKRLTK RVQQMIGQID GLISQLEMDQ QAGKLAPANG MPTGENVISV 650
AELINAMKQV KHIPESKLTS LAAALDENKD GKVNIDDLVK VIELVDKEDV 700
HISTSQVAEI VATLEKEEKV EEKEKAKEKA EKEVAEVKS 739
Length:739
Mass (Da):83,354
Last modified:May 1, 1999 - v1
Checksum:i942E9138F299D94F
GO
Isoform 2 (identifier: O95202-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:254
Mass (Da):29,291
Checksum:i5510CB4D93FFDDDE
GO
Isoform 3 (identifier: O95202-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:294
Mass (Da):33,245
Checksum:i5C8B98ECA4D20E42
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4848MASIL…LRNCL → MRHTWPFR in isoform 2. VSP_037814Add
BLAST
Alternative sequencei292 – 2943KIR → QVL in isoform 2 and isoform 3. VSP_037815
Alternative sequencei295 – 739445Missing in isoform 2 and isoform 3. VSP_037816Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS3355.1. [O95202-1]
PIRiT43494.
RefSeqiNP_036450.1. NM_012318.2. [O95202-1]
UniGeneiHs.120165.

Genome annotation databases

EnsembliENST00000302787; ENSP00000305653; ENSG00000168924. [O95202-1]
GeneIDi3954.
KEGGihsa:3954.
UCSCiuc003gdv.3. human. [O95202-1]
uc011bvg.2. human. [O95202-3]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS3355.1. [O95202-1 ]
PIRi T43494.
RefSeqi NP_036450.1. NM_012318.2. [O95202-1 ]
UniGenei Hs.120165.

3D structure databases

ProteinModelPortali O95202.
SMRi O95202. Positions 252-418.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110145. 8 interactions.
IntActi O95202. 6 interactions.
MINTi MINT-3002664.
STRINGi 9606.ENSP00000305653.

Protein family/group databases

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

PTM databases

PhosphoSitei O95202.

Proteomic databases

MaxQBi O95202.
PaxDbi O95202.
PeptideAtlasi O95202.
PRIDEi O95202.

Protocols and materials databases

DNASUi 3954.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000302787 ; ENSP00000305653 ; ENSG00000168924 . [O95202-1 ]
GeneIDi 3954.
KEGGi hsa:3954.
UCSCi uc003gdv.3. human. [O95202-1 ]
uc011bvg.2. human. [O95202-3 ]

Organism-specific databases

CTDi 3954.
GeneCardsi GC04M001781.
HGNCi HGNC:6556. LETM1.
HPAi HPA011029.
HPA011100.
MIMi 604407. gene.
neXtProti NX_O95202.
Orphaneti 280. Wolf-Hirschhorn syndrome.
PharmGKBi PA30335.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG243495.
HOGENOMi HOG000290246.
HOVERGENi HBG052322.
InParanoidi O95202.
KOi K17800.
OMAi HQEIPTS.
OrthoDBi EOG79PJNQ.
PhylomeDBi O95202.
TreeFami TF316321.

Miscellaneous databases

ChiTaRSi LETM1. human.
GeneWikii LETM1.
GenomeRNAii 3954.
NextBioi 15513.
PROi O95202.
SOURCEi Search...

Gene expression databases

ArrayExpressi O95202.
Bgeei O95202.
CleanExi HS_LETM1.
Genevestigatori O95202.

Family and domain databases

Gene3Di 1.10.238.10. 1 hit.
InterProi IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR011685. LETM1.
[Graphical view ]
Pfami PF07766. LETM1. 1 hit.
[Graphical view ]
PROSITEi PS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiLETM1_HUMAN
AccessioniPrimary (citable) accession number: O95202
Secondary accession number(s): B4DED2, Q9UF65
Entry historyi
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 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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