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

Gene ID: 130951, updated on 5-Mar-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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Location:
2p13.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74557883..74648330, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74566449..74656902, complement)
105.20220307 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
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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

  • FLJ44410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables molecular_function ND
No biological Data available
more info
  
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_2023_10

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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