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Aliases for MAJIN Gene

Aliases for MAJIN Gene

  • Membrane Anchored Junction Protein 2 3 5
  • C11orf85 3 4
  • Chromosome 11 Open Reading Frame 85 2
  • Membrane-Anchored Junction Protein 3

External Ids for MAJIN Gene

Previous HGNC Symbols for MAJIN Gene

  • C11orf85

Summaries for MAJIN Gene

GeneCards Summary for MAJIN Gene

MAJIN (Membrane Anchored Junction Protein) is a Protein Coding gene.

UniProtKB/Swiss-Prot for MAJIN Gene

  • Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly for the stabilization of telomere attachment on the nucleus inner membrane.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAJIN Gene

Genomics for MAJIN Gene

Regulatory Elements for MAJIN Gene

Enhancers for MAJIN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G064846 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +115.1 115059 20.6 CREB3L1 ZFP64 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 TBX21 GLIS1 EHD1 MAP4K2 SNX15 MIR192 MEN1 KAT5 SSSCA1-AS1 MAJIN GPHA2 ENSG00000269038
GH11G064886 1.7 Ensembl ENCODE dbSUPER 11.2 +81.1 81078 8.2 MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 SP3 MEF2D SSRP1 RCOR2 MAJIN EEF1A1P18 ARL2 CDC42BPG SPDYC PLCB3 NEAT1 LOC101927789 GC11M064934 GC11M064935
GH11G065065 1 Ensembl ENCODE 10.2 -95.0 -95013 2.3 ESRRA SAP130 ZNF133 SIN3A ZNF48 EED SCRT2 FOS FOSL2 NR2F6 SNX15 ARL2 VPS51 ENSG00000254501 TM7SF2 CDC42BPG MAJIN EHD1 MEN1 LOC728975
GH11G065047 0.8 ENCODE 10.8 -75.7 -75734 1.1 BACH1 THRB ZKSCAN1 TEAD3 ZNF664 FOSL1 ARID3A NCOR1 EED ETV6 SNX15 CDCA5 ZFPL1 VPS51 TM7SF2 ENSG00000254501 MAJIN GC11M065049 GC11P065050 GC11P065048
GH11G065069 0.8 ENCODE 10.2 -97.5 -97455 0.8 USF1 SAP130 MAX ZNF384 CEBPG YY1 RELB IKZF2 GATAD2A TFE3 SNX15 ARL2 ENSG00000254501 TM7SF2 CDC42BPG MAJIN EHD1 GC11M065053 GC11M065079 PIR38481
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAJIN on UCSC Golden Path with GeneCards custom track

Promoters for MAJIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040754 112 401 CTCF RING1 CBX3 CREB3L1 AGO1 MAX CCNT2 E2F1 POLR2A L3MBTL2

Genomic Location for MAJIN Gene

Chromosome:
11
Start:
64,937,517 bp from pter
End:
64,972,112 bp from pter
Size:
34,596 bases
Orientation:
Minus strand

Genomic View for MAJIN Gene

Genes around MAJIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAJIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAJIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAJIN Gene

Proteins for MAJIN Gene

  • Protein details for MAJIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3KP22-MAJIN_HUMAN
    Recommended name:
    Membrane-anchored junction protein
    Protein Accession:
    Q3KP22
    Secondary Accessions:
    • B3KS99
    • E9PPE5

    Protein attributes for MAJIN Gene

    Size:
    176 amino acids
    Molecular mass:
    20078 Da
    Quaternary structure:
    • Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN, TERB1 and TERB2.

    Alternative splice isoforms for MAJIN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAJIN Gene

Post-translational modifications for MAJIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAJIN Gene

Domains & Families for MAJIN Gene

Protein Domains for MAJIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAJIN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3KP22

UniProtKB/Swiss-Prot:

MAJIN_HUMAN :
  • Belongs to the MAJIN family.
Family:
  • Belongs to the MAJIN family.
genes like me logo Genes that share domains with MAJIN: view

No data available for Gene Families for MAJIN Gene

Function for MAJIN Gene

Molecular function for MAJIN Gene

UniProtKB/Swiss-Prot Function:
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly for the stabilization of telomere attachment on the nucleus inner membrane.

Gene Ontology (GO) - Molecular Function for MAJIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with MAJIN: view

Phenotypes for MAJIN Gene

GenomeRNAi human phenotypes for MAJIN:
genes like me logo Genes that share phenotypes with MAJIN: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MAJIN Gene

Localization for MAJIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAJIN Gene

Nucleus inner membrane; Single-pass membrane protein. Chromosome, telomere. Note=In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250 UniProtKB:Q9D992}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAJIN gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MAJIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region ISS --
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005639 integral component of nuclear inner membrane ISS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with MAJIN: view

Pathways & Interactions for MAJIN Gene

SuperPathways for MAJIN Gene

No Data Available

Interacting Proteins for MAJIN Gene

Gene Ontology (GO) - Biological Process for MAJIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007129 synapsis ISS --
GO:0045141 meiotic telomere clustering ISS --
GO:0051321 meiotic cell cycle IEA --
GO:0070197 meiotic attachment of telomere to nuclear envelope ISS --
genes like me logo Genes that share ontologies with MAJIN: view

No data available for Pathways by source and SIGNOR curated interactions for MAJIN Gene

Transcripts for MAJIN Gene

Alternative Splicing Database (ASD) splice patterns (SP) for MAJIN Gene

No ASD Table

Relevant External Links for MAJIN Gene

GeneLoc Exon Structure for
MAJIN
ECgene alternative splicing isoforms for
MAJIN

Expression for MAJIN Gene

NURSA nuclear receptor signaling pathways regulating expression of MAJIN Gene:

MAJIN
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAJIN Gene

Orthologs for MAJIN Gene

This gene was present in the common ancestor of mammals.

Orthologs for MAJIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11orf85 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C18H11orf85 34
  • 86.86 (n)
C11orf85 35
  • 76 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C29H11orf85 34
  • 83.33 (n)
C11orf85 35
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC499306 34
  • 81.59 (n)
mouse
(Mus musculus)
Mammalia 1700123I01Rik 34 35
  • 75 (n)
Majin 16
platypus
(Ornithorhynchus anatinus)
Mammalia C11orf85 35
  • 63 (a)
OneToOne
Species where no ortholog for MAJIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MAJIN Gene

ENSEMBL:
Gene Tree for MAJIN (if available)
TreeFam:
Gene Tree for MAJIN (if available)

Paralogs for MAJIN Gene

No data available for Paralogs for MAJIN Gene

Variants for MAJIN Gene

Sequence variations from dbSNP and Humsavar for MAJIN Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000099898 -- 64,973,325(+) TGGCC(A/G)CGTGC upstream-variant-2KB
rs1000120320 -- 64,969,611(+) GCCAG(A/G)TCTAC intron-variant
rs1000232716 -- 64,947,928(+) GATCT(C/T)GGCTC intron-variant
rs1000937297 -- 64,942,331(+) TTACA(C/T)GAATG intron-variant
rs1001034212 -- 64,949,959(+) CTGAC(C/G)TACCC intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MAJIN Gene

Variant ID Type Subtype PubMed ID
nsv526181 CNV gain 19592680
nsv555208 CNV loss 21841781

Variation tolerance for MAJIN Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAJIN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAJIN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAJIN Gene

Disorders for MAJIN Gene

Relevant External Links for MAJIN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAJIN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAJIN

No disorders were found for MAJIN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAJIN Gene

Publications for MAJIN Gene

  1. MAJIN Links Telomeric DNA to the Nuclear Membrane by Exchanging Telomere Cap. (PMID: 26548954) Shibuya H. … Watanabe Y. (Cell 2015) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for MAJIN Gene

Sources for MAJIN Gene

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