M1AP (meiosis 1 associated protein)

Gene

• Entrez ID: 130951
• Gene name: Meiosis 1 associated protein
• Gene symbol: M1AP
• Synonyms (NCBI Gene): C2orf65, D6Mm5e, SPATA37, SPGF48
• Chromosome: 2
• Chromosome location: 2p13.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144217347	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006325	Process	Chromatin organization	NAS	9927484
GO:0006396	Process	RNA processing	NAS	9927484
GO:0007127	Process	Meiosis I	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IMP	32673564
GO:0007283	Process	Spermatogenesis	ISS	16881047
GO:0007292	Process	Female gamete generation	IEA
GO:0007292	Process	Female gamete generation	ISS	16881047
GO:0016020	Component	Membrane	NAS	9927484
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0051308	Process	Male meiosis chromosome separation	IBA
GO:0051308	Process	Male meiosis chromosome separation	IEA
GO:0051308	Process	Male meiosis chromosome separation	ISS

Other IDs

• MIM: 619098
• HGNC: 25183
• e!Ensembl: ENSG00000159374

Protein

• UniProt ID: Q8TC57
• Protein name: Meiosis 1 arrest protein (Meiosis 1-arresting protein) (Meiosis 1-associated protein) (Spermatogenesis-associated protein 37)
• Protein function: Required for meiosis I progression during spermatogenesis.
• Sequence:

  MHPGRTTGKGPSTHTQIDQQPPRLLIVHIALPSWADICTNLCEALQNFFSLACSLMGPSR
  MSLFSLYMVQDQHECILPFVQVKGNFARLQTCISELRMLQREGCFRSQGASLRLAVEDGL
  QQFKQYSRHVTTRAALTYTSLEITILTSQPGKEVVKQLEEGLKDTDLARVRRFQVVEVTK
  GILEHVDSASPVEDTSNDESSILGTDIDLQTIDNDIVSMEIFFKAWLHNSGTDQEQIHLL
  LSSQCFSNISRPRDNPMCLKCDLQERLLCPSLLAGTADGSLRMDDPKGDFITLYQMASQS
  SASHYKLQVIKALKSSGLCESLTYGLPFILRPTSCWQLDWDELETNQQHFHALCHSLLKR
  EWLLLAKGEPPGPGHSQRIPASTFYVIMPSHSLTLLVKAVATRELMLPSTFPLLPEDPHD
  DSLKNVESMLDSLELEPTYNPLHVQSHLYSHLSSIYAKPQGRLHPHWESRAPRKHPCKTG
  QLQTNRARATVAPLPMTPVPGRASKMPAASKSSSDAFFLPSEWEKDPSRP

• Sequence length: 530

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenesis maturation arrest	Pathogenic	rs1677697539	RCV001089648	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 48	Pathogenic	rs1677697539	RCV001267819	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATROPHIC GASTRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptozoospermia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
M1AP-related condition	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Non-obstructive azoospermia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Azoospermia	Associate	35341049	★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	35341049	★☆☆☆☆ Found in Text Mining only
Oligospermia	Associate	35341049	★☆☆☆☆ Found in Text Mining only