MAEL
Protein maelstrom homolog
Also known as: CT128, FLJ14904, MAEL_HUMAN, SPATA35
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96JY0
- Gene
- MAEL
- Ensembl
- ENSG00000143194
- Chromosome
- 1
- Canonical length
- 434 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in male meiotic nuclear division; negative regulation of macromolecule biosynthetic process; and spermatogenesis. Predicted to act upstream of or within several processes, including homologous chromosome pairing at meiosis; intrinsic apoptotic signaling pathway in response to DNA damage; and negative regulation of macromolecule biosynthetic process. Predicted to be located in piP-body. Predicted to be active in P granule and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
434 residues, UniProt reviewed canonical sequence.
>Q96JY0|MAEL
1 MPNRKASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS SDWALLREEE KEKYAEMARE
61 WRAAQGKDPG PSEKQKPVFT PLRRPGMLVP KQNVSPPDMS ALSLKGDQAL LGGIFYFLNI
121 FSHGELPPHC EQRFLPCEIG CVKYSLQEGI MADFHSFINP GEIPRGFRFH CQAASDSSHK
181 IPISNFERGH NQATVLQNLY RFIHPNPGNW PPIYCKSDDR TRVNWCLKHM AKASEIRQDL
241 QLLTVEDLVV GIYQQKFLKE PSKTWIRSLL DVAMWDYSSN TRCKWHEEND ILFCALAVCK
301 KIAYCISNSL ATLFGIQLTE AHVPLQDYEA SNSVTPKMVV LDAGRYQKLR VGSSGFSHFN
361 SSNEEQRSNT PIGDYPSRAK ISGQNSSVRG RGITRLLESI SNSSSNIHKF SNCDTSLSPY
421 MSQKDGYKSF SSLSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MAEL 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)
- 0.42
- Highest tissue expression
- 149 nTPM
Expression across tissuesHPA
Tissue
- testis: 149 nTPM
- placenta: 6.1 nTPM
- heart muscle: 5.3 nTPM
- retina: 4 nTPM
- cerebral cortex: 3.3 nTPM
- amygdala: 2 nTPM
Single-cell type
- early spermatids: 1,466 nCPM
- late primary spermatocytes: 1,237 nCPM
- late spermatids: 497 nCPM
- early primary spermatocytes: 328 nCPM
- oocytes: 244 nCPM
- differentiating spermatogonia: 133 nCPM
Immune cell
- plasmacytoid DC: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebral cortex: 3.4 nTPM
- white matter: 2.6 nTPM
- basal ganglia: 2.5 nTPM
- thalamus: 2.4 nTPM
- hippocampal formation: 2.2 nTPM
- midbrain: 1.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MAEL.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 47 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Disease | ImmuneIEDB
Conditions an epitope on MAEL was assayed in.
- hepatocellular carcinoma T cell
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)
- 0.6
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.96
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell morphogenesis
- ectopic germ cell programmed cell death
- fertilization
- homologous chromosome pairing at meiosis
- intrinsic apoptotic signaling pathway in response to DNA damage
- male meiotic nuclear division
- negative regulation of apoptotic process
- negative regulation of developmental process
- negative regulation of DNA-templated transcription
- negative regulation of reproductive process
- negative regulation of transcription by RNA polymerase II
- piRNA processing
- regulation of miRNA-mediated gene silencing
- regulation of organ growth
- regulatory ncRNA-mediated gene silencing
- spermatogenesis
- transposable element silencing by piRNA-mediated DNA methylation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- High mobility group box domain
- High mobility group box domain superfamily
- HMG-box domain
- Maelstrom domain
- Protein maelstrom
- piRNA pathway germ-plasm component
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MAEL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MAEL as an antibody target. Whether an autoantibody or antibody against MAEL could matter depends on whether native MAEL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MAEL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MAEL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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