Misplaced Pages

MLIP (gene)

Article snapshot taken from Wikipedia with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
Protein-coding gene in the species Homo sapiens
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
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)
Chromosome 6 (human)Genomic location for MLIPGenomic location for MLIP
Band6p12.1Start53,929,982 bp
End54,266,280 bp
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)
Chromosome 9 (mouse)Genomic location for MLIPGenomic location for MLIP
Band9|9 DStart77,102,081 bp
End77,352,969 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • myocardium of left ventricle

  • cardiac muscle tissue of right atrium

  • tibialis anterior muscle

  • right ventricle

  • deltoid muscle

  • Skeletal muscle tissue of biceps brachii

  • tibial nerve

  • gastrocnemius muscle

  • muscle of thigh

  • apex of heart
Top expressed in
  • sciatic nerve

  • myocardium of ventricle

  • extraocular muscle

  • atrium

  • interventricular septum

  • triceps brachii muscle

  • vastus lateralis muscle

  • muscle of thigh

  • temporal muscle

  • ankle
More reference expression data
BioGPS
n/a
Orthologs
SpeciesHumanMouse
Entrez

90523

69642

Ensembl

ENSG00000146147

ENSMUSG00000032355

UniProt

Q5VWP3

Q5FW52

RefSeq (mRNA)

NM_001281746
NM_001281747
NM_138569

NM_027150

RefSeq (protein)

NP_001268675
NP_001268676
NP_612636

NP_081426
NP_001355884
NP_001355885
NP_001355886
NP_001355887

NP_001355888
NP_001355889
NP_001355890
NP_001355891
NP_001355892
NP_001355893
NP_001355894
NP_001355895
NP_001355896
NP_001355897
NP_001355898
NP_001355899
NP_001355900
NP_001355901
NP_001355902
NP_001355903
NP_001355904
NP_001355905
NP_001355906
NP_001355907
NP_001355908
NP_001355909
NP_001355910
NP_001355911
NP_001355912
NP_001355913
NP_001355914
NP_001355915
NP_001355916
NP_001355917
NP_001355918

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

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

Function

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.

Gene

Aliases

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

Locus and size

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. It has 19 exons and 13 splice variants ranging in size from 23 to 57 kDa.

Orthologs and homologs

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

Expression and interactions

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.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000146147Ensembl, May 2017
  2. ^ 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. ^ "Entrez Gene: C6orf142 chromosome 6 open reading frame 142".
  6. ^ 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. ^ 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.

External links

Further reading

Category: