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

Gene ID: 90523, updated on 1-Aug-2020

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
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; C6orf142
Expression
Biased expression in heart (RPKM 11.0), liver (RPKM 1.8) and 1 other tissue See more
Orthologs

Genomic context

See MLIP in Genome Data Viewer
Location:
6p12.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (54018916..54266325)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (53883714..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 uncharacterized LOC105375097 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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA 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

Homology

Clone Names

  • FLJ54673, FLJ79056, MGC18257

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lamin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
negative regulation of cardiac muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cardiac muscle hypertrophy in response to stress ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
PML body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PML body ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear envelope ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear lumen ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    Q5VWP3
    Related
    ENSP00000426290.1, ENST00000502396.6
    Conserved Domains (1) summary
    pfam15274
    Location:681906
    MLIP; Muscular LMNA-interacting protein
  3. NM_138569.2NP_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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    54018916..54266325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446579.1XP_024302347.1  muscular LMNA-interacting protein isoform X11

    Conserved Domains (1) summary
    pfam15274
    Location:119343
    MLIP; Muscular LMNA-interacting protein
  2. XM_024446582.1XP_024302350.1  muscular LMNA-interacting protein isoform X15

    Conserved Domains (1) summary
    pfam15274
    Location:119277
    MLIP; Muscular LMNA-interacting protein
  3. XM_024446580.1XP_024302348.1  muscular LMNA-interacting protein isoform X12

    Conserved Domains (1) summary
    pfam15274
    Location:119323
    MLIP; Muscular LMNA-interacting protein
  4. XM_005249476.5XP_005249533.1  muscular LMNA-interacting protein isoform X2

    Conserved Domains (1) summary
    pfam15274
    Location:670895
    MLIP; Muscular LMNA-interacting protein
  5. XM_005249480.5XP_005249537.1  muscular LMNA-interacting protein isoform X10

    Conserved Domains (1) summary
    pfam15274
    Location:119371
    MLIP; Muscular LMNA-interacting protein
  6. XM_024446578.1XP_024302346.1  muscular LMNA-interacting protein isoform X8

    Conserved Domains (1) summary
    pfam15274
    Location:552777
    MLIP; Muscular LMNA-interacting protein
  7. XM_005249478.5XP_005249535.1  muscular LMNA-interacting protein isoform X5

    Conserved Domains (1) summary
    pfam15274
    Location:618843
    MLIP; Muscular LMNA-interacting protein
  8. XM_024446581.1XP_024302349.1  muscular LMNA-interacting protein isoform X13

    Conserved Domains (1) summary
    pfam15274
    Location:67319
    MLIP; Muscular LMNA-interacting protein
  9. XM_017011470.1XP_016866959.1  muscular LMNA-interacting protein isoform X14

  10. XM_017011469.1XP_016866958.1  muscular LMNA-interacting protein isoform X9

  11. XM_017011467.1XP_016866956.1  muscular LMNA-interacting protein isoform X6

  12. XM_017011468.1XP_016866957.1  muscular LMNA-interacting protein isoform X7

  13. XM_006715245.3XP_006715308.2  muscular LMNA-interacting protein isoform X1

  14. XM_017011465.1XP_016866954.1  muscular LMNA-interacting protein isoform X3

  15. XM_017011466.2XP_016866955.1  muscular LMNA-interacting protein isoform X4

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