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    M1AP meiosis 1 associated protein [ Homo sapiens (human) ]

    Gene ID: 130951, updated on 27-Nov-2024

    Summary

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    Official Symbol
    M1APprovided by HGNC
    Official Full Name
    meiosis 1 associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25183
    See related
    Ensembl:ENSG00000159374 MIM:619098; AllianceGenome:HGNC:25183
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    D6Mm5e; SPGF48; C2orf65; SPATA37
    Summary
    This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in testis (RPKM 3.3), bone marrow (RPKM 2.4) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See M1AP in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74557883..74648330, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74566449..74656902, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74785010..74875457, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74756279-74757161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16075 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74763605-74764106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11669 Neighboring gene Sharpr-MPRA regulatory regions 4995 and 13004 Neighboring gene HtrA serine peptidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74781947-74782464 Neighboring gene AUP1 lipid droplet regulating VLDL assembly factor Neighboring gene lysyl oxidase like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16079 Neighboring gene docking protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16081 Neighboring gene TOR1B pseudogene 1 Neighboring gene TVP23B pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11671 Neighboring gene ssemaphorin 4F Neighboring gene uncharacterized LOC102724497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11672 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:74967320-74968519 Neighboring gene uncharacterized LOC102724482 Neighboring gene ribosomal protein S28 pseudogene 5

    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 analysis of M1AP variants associated with severely impaired spermatogenesis causing male infertility. Gerlevik U, et al. PeerJ, 2022. PMID 35341049, Free PMC Article
    2. An M1AP homozygous splice-site mutation associated with severe oligozoospermia in a consanguineous family. Tu C, et al. Clin Genet, 2020 May. PMID 32017041
    3. Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. Wyrwoll MJ, et al. Am J Hum Genet, 2020 Aug 6. PMID 32673564, Free PMC Article
    4. Expression analysis and evolutionary conservation of the mouse germ cell-specific D6Mm5e gene. Arango NA, et al. Dev Dyn, 2006 Sep. PMID 16881047
    5. Comparative sequence of human and mouse BAC clones from the mnd2 region of chromosome 2p13. Jang W, et al. Genome Res, 1999 Jan. PMID 9927484, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural analysis of M1AP variants associated with severely impaired spermatogenesis causing male infertility.
      Title: Structural analysis of M1AP variants associated with severely impaired spermatogenesis causing male infertility.
    2. An M1AP homozygous splice-site mutation associated with severe oligozoospermia in a consanguineous family.
      Title: An M1AP homozygous splice-site mutation associated with severe oligozoospermia in a consanguineous family.
    3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide searching of rare genetic variants in WTCCC data.
    4. 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
    Spermatogenic failure 48
    MedGen: C5436823 OMIM: 619108 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44410

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in female gamete generation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in male meiosis chromosome separation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in male meiosis chromosome separation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiosis I IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    meiosis 1 arrest protein
    Names
    meiosis 1 arresting protein
    spermatogenesis associated 37

    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_001281295.2 → NP_001268224.1  meiosis 1 arrest protein isoform 2

      See identical proteins and their annotated locations for NP_001268224.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks several exons at its 3' end, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC014602, DR158220
      UniProtKB/Swiss-Prot
      Q8TC57

    2. NM_001281296.2 → NP_001268225.1  meiosis 1 arrest protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR and lacks an in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AK300188, BC025997
      Consensus CDS
      CCDS62941.1
      UniProtKB/Swiss-Prot
      Q8TC57
      Related
      ENSP00000445662.1, ENST00000536235.5

    3. NM_001321739.2 → NP_001308668.1  meiosis 1 arrest protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      BC025997, DR158220
      Consensus CDS
      CCDS33229.1
      UniProtKB/Swiss-Prot
      B7Z6E7, E9PGG8, Q6ZP30, Q8TC57, Q96L07
      Related
      ENSP00000414882.2, ENST00000421985.2

    4. NM_138804.5 → NP_620159.2  meiosis 1 arrest protein isoform 1

      See identical proteins and their annotated locations for NP_620159.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC007387, BC025997
      Consensus CDS
      CCDS33229.1
      UniProtKB/Swiss-Prot
      B7Z6E7, E9PGG8, Q6ZP30, Q8TC57, Q96L07
      Related
      ENSP00000290536.5, ENST00000290536.9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      74557883..74648330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443432.1 → XP_047299388.1  meiosis 1 arrest protein isoform X3

    2. XM_047443431.1 → XP_047299387.1  meiosis 1 arrest protein isoform X2

    3. XM_047443430.1 → XP_047299386.1  meiosis 1 arrest protein isoform X1

    4. XM_024452711.2 → XP_024308479.1  meiosis 1 arrest protein isoform X5

    5. XM_047443433.1 → XP_047299389.1  meiosis 1 arrest protein isoform X4

    6. XM_006711946.4 → XP_006712009.1  meiosis 1 arrest protein isoform X6

    7. XM_011532551.3 → XP_011530853.1  meiosis 1 arrest protein isoform X8

      See identical proteins and their annotated locations for XP_011530853.1

      UniProtKB/Swiss-Prot
      B7Z6E7, E9PGG8, Q6ZP30, Q8TC57, Q96L07

    8. XM_011532550.3 → XP_011530852.1  meiosis 1 arrest protein isoform X8

      See identical proteins and their annotated locations for XP_011530852.1

      UniProtKB/Swiss-Prot
      B7Z6E7, E9PGG8, Q6ZP30, Q8TC57, Q96L07

    9. XM_005264152.4 → XP_005264209.1  meiosis 1 arrest protein isoform X9

      See identical proteins and their annotated locations for XP_005264209.1

      UniProtKB/TrEMBL
      B3KX03
      Related
      ENST00000464686.5

    10. XM_047443434.1 → XP_047299390.1  meiosis 1 arrest protein isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74566449..74656902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340604.1 → XP_054196579.1  meiosis 1 arrest protein isoform X3

    2. XM_054340603.1 → XP_054196578.1  meiosis 1 arrest protein isoform X2

    3. XM_054340602.1 → XP_054196577.1  meiosis 1 arrest protein isoform X1

    4. XM_054340606.1 → XP_054196581.1  meiosis 1 arrest protein isoform X5

    5. XM_054340605.1 → XP_054196580.1  meiosis 1 arrest protein isoform X4

    6. XM_054340607.1 → XP_054196582.1  meiosis 1 arrest protein isoform X6

    7. XM_054340610.1 → XP_054196585.1  meiosis 1 arrest protein isoform X8

      UniProtKB/Swiss-Prot
      B7Z6E7, E9PGG8, Q6ZP30, Q8TC57, Q96L07

    8. XM_054340609.1 → XP_054196584.1  meiosis 1 arrest protein isoform X8

      UniProtKB/Swiss-Prot
      B7Z6E7, E9PGG8, Q6ZP30, Q8TC57, Q96L07

    9. XM_054340612.1 → XP_054196587.1  meiosis 1 arrest protein isoform X9

      UniProtKB/TrEMBL
      B3KX03

    10. XM_054340611.1 → XP_054196586.1  meiosis 1 arrest protein isoform X10

    11. XM_054340608.1 → XP_054196583.1  meiosis 1 arrest protein isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC57.1 GenPept UniProtKB/Swiss-Prot:Q8TC57

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