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MAJIN membrane anchored junction protein [ Homo sapiens (human) ]

Gene ID: 283129, updated on 11-Apr-2024

Summary

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Official Symbol
MAJINprovided by HGNC
Official Full Name
membrane anchored junction proteinprovided by HGNC
Primary source
HGNC:HGNC:27441
See related
Ensembl:ENSG00000168070 MIM:617130; AllianceGenome:HGNC:27441
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
C11orf85
Summary
Predicted to enable DNA binding activity. Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to be located in chromosome, telomeric region. Predicted to be integral component of nuclear inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 5.4) See more
Orthologs
mouse all
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Genomic context

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Location:
11q13.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64938230..64972108, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64931487..64965377, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64705702..64739580, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene autophagy related 2A Neighboring gene microRNA 6749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64691122-64691919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3503 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:64694868-64696067 Neighboring gene protein phosphatase 2 regulatory subunit B'beta Neighboring gene glycoprotein hormone subunit alpha 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64757136-64757663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64763842-64764342 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3163 Neighboring gene basic leucine zipper ATF-like transcription factor 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64773912-64775111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3504 Neighboring gene ARL2-SNX15 readthrough (NMD candidate) Neighboring gene microRNA 6879 Neighboring gene ADP ribosylation factor like GTPase 2

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. Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1. Dunce JM, et al. Nat Commun, 2018 Dec 17. PMID 30559341, Free PMC Article
  2. MAJIN Links Telomeric DNA to the Nuclear Membrane by Exchanging Telomere Cap. Shibuya H, et al. Cell, 2015 Nov 19. PMID 26548954
  3. The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope. Wang Y, et al. Nat Commun, 2019 Feb 4. PMID 30718482, Free PMC Article
  4. HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation. Yuan J, et al. Cell Mol Gastroenterol Hepatol, 2023. PMID 36244648, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126364

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in double-strand break repair involved in meiotic recombination IEA
Inferred from Electronic Annotation
more info
  
involved_in homologous chromosome pairing at meiosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in homologous chromosome pairing at meiosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in meiotic attachment of telomere to nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in meiotic attachment of telomere to nuclear envelope ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in meiotic telomere clustering ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in oogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
membrane-anchored junction 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_001037225.3 → NP_001032302.1  membrane-anchored junction protein isoform 1

    See identical proteins and their annotated locations for NP_001032302.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP000436, BC033501, BC106951, DB445650, HY050994
    Consensus CDS
    CCDS31603.1
    UniProtKB/Swiss-Prot
    Q3KP22
    Related
    ENSP00000301896.5, ENST00000301896.6
    Conserved Domains (1) summary
    pfam15077
    Location:1 → 216
    MAJIN; Membrane-anchored junction protein

  2. NM_001300803.2 → NP_001287732.1  membrane-anchored junction protein isoform 2

    See identical proteins and their annotated locations for NP_001287732.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment and contains an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) lacks an alternate internal segment and has a longer and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AP000436, BC033501, DB445650
    Consensus CDS
    CCDS73316.1
    UniProtKB/Swiss-Prot
    B3KS99, E9PPE5, Q3KP22
    Related
    ENSP00000434568.1, ENST00000530444.5
    Conserved Domains (1) summary
    pfam15077
    Location:1 → 159
    MAJIN; Membrane-anchored junction protein

  3. NM_001318808.2 → NP_001305737.1  membrane-anchored junction protein isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction and lacks an alternate coding exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK093130, AP000436, AW449463, DB445650
    UniProtKB/Swiss-Prot
    Q3KP22
    Conserved Domains (1) summary
    pfam15077
    Location:1 → 131
    MAJIN; Membrane-anchored junction 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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    64938230..64972108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448447.2 → XP_024304215.1  membrane-anchored junction protein isoform X2

    Conserved Domains (1) summary
    pfam15077
    Location:1 → 237
    MAJIN; Membrane-anchored junction protein

  2. XM_047426796.1 → XP_047282752.1  membrane-anchored junction protein isoform X1

    UniProtKB/TrEMBL
    A0A0P0YTB5

  3. XM_047426798.1 → XP_047282754.1  membrane-anchored junction protein isoform X3

  4. XM_005273918.3 → XP_005273975.1  membrane-anchored junction protein isoform X2

    See identical proteins and their annotated locations for XP_005273975.1

    Conserved Domains (1) summary
    pfam15077
    Location:1 → 237
    MAJIN; Membrane-anchored junction protein

  5. XM_047426795.1 → XP_047282751.1  membrane-anchored junction protein isoform X1

    UniProtKB/TrEMBL
    A0A0P0YTB5

  6. XM_047426797.1 → XP_047282753.1  membrane-anchored junction protein isoform X1

    UniProtKB/TrEMBL
    A0A0P0YTB5

  7. XM_047426799.1 → XP_047282755.1  membrane-anchored junction protein isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    64931487..64965377 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368470.1 → XP_054224445.1  membrane-anchored junction protein isoform X3

  2. XM_054368468.1 → XP_054224443.1  membrane-anchored junction protein isoform X2

  3. XM_054368465.1 → XP_054224440.1  membrane-anchored junction protein isoform X1

    UniProtKB/TrEMBL
    A0A0P0YTB5

  4. XM_054368469.1 → XP_054224444.1  membrane-anchored junction protein isoform X2

  5. XM_054368466.1 → XP_054224441.1  membrane-anchored junction protein isoform X1

    UniProtKB/TrEMBL
    A0A0P0YTB5

  6. XM_054368467.1 → XP_054224442.1  membrane-anchored junction protein isoform X1

    UniProtKB/TrEMBL
    A0A0P0YTB5

  7. XM_054368471.1 → XP_054224446.1  membrane-anchored junction protein isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3KP22.2 GenPept UniProtKB/Swiss-Prot:Q3KP22

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