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

    Gene ID: 90523, updated on 11-Apr-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001281746.2NP_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:670895
      MLIP; Muscular LMNA-interacting protein
    2. NM_001281747.2NP_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:681906
      MLIP; Muscular LMNA-interacting protein
    3. NM_138569.3NP_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:119371
      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_047419509.1XP_047275465.1  muscular LMNA-interacting protein isoform X3

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

      UniProtKB/TrEMBL
      A0A0S2Z5S8
      Conserved Domains (1) summary
      pfam15274
      Location:119343
      MLIP; Muscular LMNA-interacting protein
    3. XM_024446580.2XP_024302348.1  muscular LMNA-interacting protein isoform X11

      UniProtKB/TrEMBL
      A0A0S2Z5S8
      Conserved Domains (1) summary
      pfam15274
      Location:119323
      MLIP; Muscular LMNA-interacting protein
    4. XM_024446582.2XP_024302350.1  muscular LMNA-interacting protein isoform X14

      UniProtKB/TrEMBL
      A0A0S2Z6P4
      Conserved Domains (1) summary
      pfam15274
      Location:119277
      MLIP; Muscular LMNA-interacting protein
    5. XM_024446581.2XP_024302349.1  muscular LMNA-interacting protein isoform X12

      Conserved Domains (1) summary
      pfam15274
      Location:67319
      MLIP; Muscular LMNA-interacting protein
    6. XM_005249476.6XP_005249533.1  muscular LMNA-interacting protein isoform X2

      Conserved Domains (1) summary
      pfam15274
      Location:670895
      MLIP; Muscular LMNA-interacting protein
    7. XM_005249480.6XP_005249537.1  muscular LMNA-interacting protein isoform X9

      Conserved Domains (1) summary
      pfam15274
      Location:119371
      MLIP; Muscular LMNA-interacting protein
    8. XM_005249478.6XP_005249535.1  muscular LMNA-interacting protein isoform X6

      Conserved Domains (1) summary
      pfam15274
      Location:618843
      MLIP; Muscular LMNA-interacting protein
    9. XM_047419511.1XP_047275467.1  muscular LMNA-interacting protein isoform X13

      UniProtKB/TrEMBL
      A0A0S2Z6I7
    10. XM_017011470.2XP_016866959.1  muscular LMNA-interacting protein isoform X15

      UniProtKB/TrEMBL
      A0A0S2Z5S8
    11. XM_017011466.3XP_016866955.1  muscular LMNA-interacting protein isoform X5

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

      UniProtKB/TrEMBL
      B7ZA42
    13. XM_006715245.4XP_006715308.2  muscular LMNA-interacting protein isoform X1

      Related
      ENST00000511744.1
    14. XM_017011465.2XP_016866954.1  muscular LMNA-interacting protein isoform X4

    15. XM_017011467.2XP_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_054356727.1XP_054212702.1  muscular LMNA-interacting protein isoform X3

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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