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    MLIP muscular LMNA interacting protein [ Homo sapiens (human) ]

    Gene ID: 90523, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MLIPprovided by HGNC
    Official Full Name
    muscular LMNA interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:21355
    See related
    Ensembl:ENSG00000146147 MIM:614106; AllianceGenome:HGNC:21355
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CIP; MMCKR; C6orf142
    Summary
    Predicted to enable lamin binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of cardiac muscle hypertrophy in response to stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to be located in PML body; nuclear envelope; and sarcolemma. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in heart (RPKM 11.0), liver (RPKM 1.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See MLIP in Genome Data Viewer
    Location:
    6p12.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (54018970..54266280)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (53858907..54106381)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (53883768..54131078)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MLIP intronic transcript 1 Neighboring gene ERH pseudogene 2 Neighboring gene MLIP antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:53989184-53990383 Neighboring gene uncharacterized LOC105375097 Neighboring gene uncharacterized LOC124901335 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:54127209-54127965 Neighboring gene uncharacterized LOC105375098 Neighboring gene tubulointerstitial nephritis antigen Neighboring gene TINAG antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [MLIP: a novel gene causing rhabdomyolysis]. Ben Yaou R. Med Sci (Paris), 2021 Nov. PMID 34878397
    2. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase. Lopes Abath Neto O, et al. Brain, 2021 Oct 22. PMID 34581780, Free PMC Article
    3. MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension. Canut MI, et al. Sci Rep, 2021 Jan 15. PMID 33452295, Free PMC Article
    4. Psoriatic arthritis joint fluids are characterized by CD8 and CD4 T cell clonal expansions appear antigen driven. Costello PJ, et al. J Immunol, 2001 Feb 15. PMID 11160357
    5. T-cell variant of classical Hodgkin's lymphoma with nodal and cutaneous manifestations demonstrated by single-cell polymerase chain reaction. Willenbrock K, et al. Lab Invest, 2002 Sep. PMID 12218070

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cardiac CIP protein regulates dystrophic cardiomyopathy.
      Title: Cardiac CIP protein regulates dystrophic cardiomyopathy.
    2. [MLIP: a novel gene causing rhabdomyolysis].", trans "MLIP : un nouveau gene de rhabdomyolyse.
      Title: [MLIP: a novel gene causing rhabdomyolysis].
    3. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
      Title: MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
    4. MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.
      Title: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.
    5. Regulation of myonuclear positioning and muscle function by the skeletal muscle-specific CIP protein.
      Title: Regulation of myonuclear positioning and muscle function by the skeletal muscle-specific CIP protein.
    6. CIP expression is reduced in patients with dilated cardiomyopathy.
      Title: Cardiomyocyte-enriched protein CIP protects against pathophysiological stresses and regulates cardiac homeostasis.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
    MedGen: C5774260 OMIM: 620138 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of muscular LMNA-interacting protein (MLIP; C6orf142) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ54673, FLJ79056, MGC18257

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lamin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of cardiac muscle hypertrophy ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cardiac muscle hypertrophy in response to stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in PML body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear envelope ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear lumen ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sarcolemma ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    muscular LMNA-interacting protein
    Names
    cardiac ISL1-interacting protein
    muscle-enriched A-type lamin interacting protein
    muscular-enriched A-type laminin-interacting protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001281746.2 → NP_001268675.1  muscular LMNA-interacting protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has shorter and distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AK294890, AL139389, AL359380, BX647567, DA761851
      Consensus CDS
      CCDS64448.1
      UniProtKB/Swiss-Prot
      Q5VWP3
      Related
      ENSP00000425142.1, ENST00000514921.5
      Conserved Domains (1) summary
      pfam15274
      Location:670 → 895
      MLIP; Muscular LMNA-interacting protein

    2. NM_001281747.2 → NP_001268676.1  muscular LMNA-interacting protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK294890, AL139389, AL359380, BC009010, DC322019
      Consensus CDS
      CCDS64449.1
      UniProtKB/Swiss-Prot
      B7Z2N0, D6RE05, Q5VWP3, Q96H08, Q96NF7
      Related
      ENSP00000426290.1, ENST00000502396.6
      Conserved Domains (1) summary
      pfam15274
      Location:681 → 906
      MLIP; Muscular LMNA-interacting protein

    3. NM_138569.3 → NP_612636.2  muscular LMNA-interacting protein isoform 3

      See identical proteins and their annotated locations for NP_612636.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AK055530, AL359380, BC009010, BX091237, BX113168, DA761851
      Consensus CDS
      CCDS4954.1
      UniProtKB/Swiss-Prot
      Q5VWP3
      Related
      ENSP00000274897.5, ENST00000274897.9
      Conserved Domains (1) summary
      pfam15274
      Location:119 → 371
      MLIP; Muscular LMNA-interacting protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      54018970..54266280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419509.1 → XP_047275465.1  muscular LMNA-interacting protein isoform X3

    2. XM_024446579.2 → XP_024302347.1  muscular LMNA-interacting protein isoform X10

      UniProtKB/TrEMBL
      A0A0S2Z5S8
      Conserved Domains (1) summary
      pfam15274
      Location:119 → 343
      MLIP; Muscular LMNA-interacting protein

    3. XM_024446580.2 → XP_024302348.1  muscular LMNA-interacting protein isoform X11

      UniProtKB/TrEMBL
      A0A0S2Z5S8
      Conserved Domains (1) summary
      pfam15274
      Location:119 → 323
      MLIP; Muscular LMNA-interacting protein

    4. XM_024446582.2 → XP_024302350.1  muscular LMNA-interacting protein isoform X14

      UniProtKB/TrEMBL
      A0A0S2Z6P4
      Conserved Domains (1) summary
      pfam15274
      Location:119 → 277
      MLIP; Muscular LMNA-interacting protein

    5. XM_024446581.2 → XP_024302349.1  muscular LMNA-interacting protein isoform X12

      Conserved Domains (1) summary
      pfam15274
      Location:67 → 319
      MLIP; Muscular LMNA-interacting protein

    6. XM_005249476.6 → XP_005249533.1  muscular LMNA-interacting protein isoform X2

      Conserved Domains (1) summary
      pfam15274
      Location:670 → 895
      MLIP; Muscular LMNA-interacting protein

    7. XM_005249480.6 → XP_005249537.1  muscular LMNA-interacting protein isoform X9

      Conserved Domains (1) summary
      pfam15274
      Location:119 → 371
      MLIP; Muscular LMNA-interacting protein

    8. XM_005249478.6 → XP_005249535.1  muscular LMNA-interacting protein isoform X6

      Conserved Domains (1) summary
      pfam15274
      Location:618 → 843
      MLIP; Muscular LMNA-interacting protein

    9. XM_047419511.1 → XP_047275467.1  muscular LMNA-interacting protein isoform X13

      UniProtKB/TrEMBL
      A0A0S2Z6I7

    10. XM_017011470.2 → XP_016866959.1  muscular LMNA-interacting protein isoform X15

      UniProtKB/TrEMBL
      A0A0S2Z5S8

    11. XM_017011466.3 → XP_016866955.1  muscular LMNA-interacting protein isoform X5

    12. XM_017011468.2 → XP_016866957.1  muscular LMNA-interacting protein isoform X8

      UniProtKB/TrEMBL
      B7ZA42

    13. XM_006715245.4 → XP_006715308.2  muscular LMNA-interacting protein isoform X1

      Related
      ENST00000511744.1

    14. XM_017011465.2 → XP_016866954.1  muscular LMNA-interacting protein isoform X4

    15. XM_017011467.2 → XP_016866956.1  muscular LMNA-interacting protein isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      53858907..54106381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356727.1 → XP_054212702.1  muscular LMNA-interacting protein isoform X3

    2. XM_054356736.1 → XP_054212711.1  muscular LMNA-interacting protein isoform X10

    3. XM_054356737.1 → XP_054212712.1  muscular LMNA-interacting protein isoform X11

    4. XM_054356740.1 → XP_054212715.1  muscular LMNA-interacting protein isoform X14

    5. XM_054356738.1 → XP_054212713.1  muscular LMNA-interacting protein isoform X12

    6. XM_054356726.1 → XP_054212701.1  muscular LMNA-interacting protein isoform X2

    7. XM_054356735.1 → XP_054212710.1  muscular LMNA-interacting protein isoform X9

    8. XM_054356731.1 → XP_054212706.1  muscular LMNA-interacting protein isoform X6

    9. XM_054356728.1 → XP_054212703.1  muscular LMNA-interacting protein isoform X19

    10. XM_054356724.1 → XP_054212699.1  muscular LMNA-interacting protein isoform X18

    11. XM_054356722.1 → XP_054212697.1  muscular LMNA-interacting protein isoform X16

    12. XM_054356723.1 → XP_054212698.1  muscular LMNA-interacting protein isoform X17

    13. XM_054356734.1 → XP_054212709.1  muscular LMNA-interacting protein isoform X20

    14. XM_054356739.1 → XP_054212714.1  muscular LMNA-interacting protein isoform X13

    15. XM_054356730.1 → XP_054212705.1  muscular LMNA-interacting protein isoform X5

    16. XM_054356733.1 → XP_054212708.1  muscular LMNA-interacting protein isoform X8

    17. XM_054356725.1 → XP_054212700.1  muscular LMNA-interacting protein isoform X1

    18. XM_054356729.1 → XP_054212704.1  muscular LMNA-interacting protein isoform X4

    19. XM_054356732.1 → XP_054212707.1  muscular LMNA-interacting protein isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VWP3.4 GenPept UniProtKB/Swiss-Prot:Q5VWP3

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