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

Gene ID: 90523, updated on 11-Apr-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 nuclear lumen. Predicted to be active in PML body; nuclear envelope; and sarcolemma. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart (RPKM 11.0), liver (RPKM 1.8) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
6p12.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (54018970..54266280)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (53858907..54106381)
105.20220307 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
  • 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. 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
  5. 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

See all (24) 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 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_2023_10

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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