M1AP

Protein identityUniProt · HPA

UniProt accession

Q8TC57

Gene

M1AP

Ensembl

ENSG00000159374

Chromosome

2

Canonical length

530 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoli,Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

530 residues, UniProt reviewed canonical sequence.

>Q8TC57|M1AP
     1  MHPGRTTGKG PSTHTQIDQQ PPRLLIVHIA LPSWADICTN LCEALQNFFS LACSLMGPSR
    61  MSLFSLYMVQ DQHECILPFV QVKGNFARLQ TCISELRMLQ REGCFRSQGA SLRLAVEDGL
   121  QQFKQYSRHV TTRAALTYTS LEITILTSQP GKEVVKQLEE GLKDTDLARV RRFQVVEVTK
   181  GILEHVDSAS PVEDTSNDES SILGTDIDLQ TIDNDIVSME IFFKAWLHNS GTDQEQIHLL
   241  LSSQCFSNIS RPRDNPMCLK CDLQERLLCP SLLAGTADGS LRMDDPKGDF ITLYQMASQS
   301  SASHYKLQVI KALKSSGLCE SLTYGLPFIL RPTSCWQLDW DELETNQQHF HALCHSLLKR
   361  EWLLLAKGEP PGPGHSQRIP ASTFYVIMPS HSLTLLVKAV ATRELMLPST FPLLPEDPHD
   421  DSLKNVESML DSLELEPTYN PLHVQSHLYS HLSSIYAKPQ GRLHPHWESR APRKHPCKTG
   481  QLQTNRARAT VAPLPMTPVP GRASKMPAAS KSSSDAFFLP SEWEKDPSRP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against M1AP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

6 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about M1AP.

Disease | AllUniProt

Conditions M1AP is implicated in, by any mechanism.

• Spermatogenic failure 48 (SPGF48) MIM:619108

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 105 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spermatogenic failure 48
• Spermatogenesis maturation arrest
• Male infertility

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.41

gnomAD pLI

0

gnomAD missense Z

0.61

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• chromatin organization
• female gamete generation
• meiosis I
• RNA processing
• spermatogenesis
• male meiosis chromosome separation

Molecular functions

• identical protein binding

Cellular components

• cytoplasm
• membrane

Protein domainsUniProt · Pfam · InterPro

• Meiosis 1 arrest protein

KeywordsUniProt

• Cytoplasm
• Differentiation
• Spermatogenesis