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MLIP (gene)

From Wikipedia, the free encyclopedia
MLIP
Identifiers
AliasesMLIP, C6orf142, muscular LMNA-interacting protein, muscular LMNA interacting protein, CIP
External IDsOMIM: 614106; MGI: 1916892; HomoloGene: 90445; GeneCards: MLIP; OMA:MLIP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001281746
NM_001281747
NM_138569

NM_027150

RefSeq (protein)

NP_001268675
NP_001268676
NP_612636

Location (UCSC)Chr 6: 53.93 – 54.27 MbChr 9: 77.1 – 77.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Muscular LMNA interacting protein (MLIP) is a protein that in humans is encoded by the MLIP gene.[5]

Function

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The function of MLIP is not known but it has been suggested that it may have a role in the growth of the heart and heart disease. There is some evidence that MLIP may be involved in maintaining cardiac homeostasis and in the initial reaction to changes in workload. However, a knockout mouse model had normal cardiac function and no structural abnormalities, showing that MLIP is not vital to these processes.[6]

Gene

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Aliases

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Muscular LMNA interacting protein has a number of aliases including MLIP, C6orf142, CIP and Muscle-enriched A-type Lamin-interacting Protein.[6][5]

Locus and size

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MLIP is located on the short arm of chromosome 6 in humans with the exact locus of 6p12.1. The gene spans 53929982 to 54266280 on the + strand of chromosome 6.[7] It has 19 exons and 13 splice variants ranging in size from 23 to 57 kDa.[8][9]

Orthologs and homologs

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MLIP is found only in amniotes (reptiles, birds and mammals), where it is highly conserved. The mouse homologue is 2310046A06rik.[5][9]

Expression and interactions

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MLIP is expressed throughout the body with higher levels found in the heart and muscle cells. It interacts with the nuclear envelope proteins lamin A/C, which is what led to its discovery. It also interacts with Islet1 transcription factor.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000146147Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032355Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: C6orf142 chromosome 6 open reading frame 142".
  6. ^ a b c Cattin ME, Wang J, Weldrick JJ, Roeske CL, Mak E, Thorn SL, DaSilva JN, Wang Y, Lusis AJ, Burgon PG (October 2015). "Deletion of MLIP (muscle-enriched A-type lamin-interacting protein) leads to cardiac hyperactivation of Akt/mammalian target of rapamycin (mTOR) and impaired cardiac adaptation". The Journal of Biological Chemistry. 290 (44): 26699–714. doi:10.1074/jbc.M115.678433. PMC 4646324. PMID 26359501.
  7. ^ "MLIP Gene (Protein Coding)". Genecards.org. GeneCards, Human gene database. Retrieved 10 November 2016.
  8. ^ Ensembl Gene ref Protein ref
  9. ^ a b Ahmady E, Deeke SA, Rabaa S, Kouri L, Kenney L, Stewart AF, Burgon PG (June 2011). "Identification of a novel muscle A-type lamin-interacting protein (MLIP)". The Journal of Biological Chemistry. 286 (22): 19702–13. doi:10.1074/jbc.M110.165548. PMC 3103349. PMID 21498514.
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Further reading

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