M1AP (meiosis 1 associated protein)

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Gene Gene information from NCBI Gene database.
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Entrez ID 130951
Gene name Meiosis 1 associated protein
Gene symbol M1AP
Synonyms (NCBI Gene)
C2orf65D6Mm5eSPATA37SPGF48
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 information provided by dbSNP.
1
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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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18 Show/Hide all (18)
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
619098 25183 ENSG00000159374
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
Family and domains
Sequence 
MHPGRTTGKGPSTHTQIDQQPPRLLIVHIALPSWADICTNLCEALQNFFSLACSLMGPSR
MSLFSLYMVQDQHECILPFVQVKGNFARLQTCISELRMLQREGCFRSQGASLRLAVEDGL
QQFKQYSRHVTTRAALTYTSLEITILTSQPGKEVVKQLEEGLKDTDLARVRRFQVVEVTK
GILEHVDSASPVEDTSNDESSILGTDIDLQTIDNDIVSMEIFFKAWLHNSGTDQEQIHLL
LSSQCFSNISRPRDNPMCLKCDLQERLLCPSLLAGTADGSLRMDDPKGDFITLYQMASQS
SASHYKLQVIKALKSSGLCESLTYGLPFILRPTSCWQLDWDELETNQQHFHALCHSLLKR
EWLLLAKGEPPGPGHSQRIPASTFYVIMPSHSLTLLVKAVATRELMLPSTFPLLPEDPHD
DSLKNVESMLDSLELEPTYNPLHVQSHLYSHLSSIYAKPQGRLHPHWESRAPRKHPCKTG
QLQTNRARATVAPLPMTPVPGRASKMPAASKSSSDAFFLPSEWEKDPSRP
Sequence length 530
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
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)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Azoospermia Pubtator 35341049 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 35341049 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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PNLDC1 4 shared diseasesMale infertility, Male infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 7 shared evidence sourcesDisgenet (Male infertility), Disgenet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), GWAS catalog (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 4 shared diseases including Male infertility, Male infertility single gene azoospermia — evidence mostly Disgenet. SHOC1 4 shared diseasesMale infertility, Male infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 7 shared evidence sourcesDisgenet (Male infertility), Disgenet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), GWAS catalog (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 4 shared diseases including Male infertility, Male infertility single gene azoospermia — evidence mostly Disgenet. SYCP2 4 shared diseasesCryptospermia, Male infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 5 shared evidence sourcesDisgenet (Cryptospermia), Disgenet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 4 shared diseases including Cryptospermia, Male infertility single gene azoospermia — evidence mostly Disgenet. ZMYND15 4 shared diseasesMale infertility, Male infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 6 shared evidence sourcesDisgenet (Male infertility), Disgenet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 4 shared diseases including Male infertility, Male infertility single gene azoospermia — evidence mostly Disgenet. TERB2 3 shared diseasesMale infertility single gene azoospermia, Spermatogenic failure, Testicular azoospermia 5 shared evidence sourcesDisgenet (Male infertility single gene azoospermia), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure), Disgenet (Testicular azoospermia) Related via 3 shared diseases including Male infertility single gene azoospermia, Spermatogenic failure — evidence mostly Disgenet.
Coronary artery disease Linked via 2 of 5 related genesPNLDC1, SHOC1 Myocardial infarction Linked via 1 of 5 related genesPNLDC1 Lung cancer Linked via 1 of 5 related genesSHOC1