UniProtKB - Q96JY0 (MAEL_HUMAN)
Protein
Protein maelstrom homolog
Gene
MAEL
Organism
Homo sapiens (Human)
Status
Functioni
Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage (By similarity).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 4 – 73 | HMG boxAdd BLAST | 70 |
GO - Molecular functioni
- sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- cell differentiation Source: UniProtKB-KW
- cell morphogenesis Source: Ensembl
- DNA methylation involved in gamete generation Source: UniProtKB
- fertilization Source: Ensembl
- gene silencing by RNA Source: UniProtKB
- homologous chromosome pairing at meiosis Source: Ensembl
- intrinsic apoptotic signaling pathway in response to DNA damage Source: Ensembl
- male meiotic nuclear division Source: GO_Central
- multicellular organism development Source: UniProtKB-KW
- negative regulation of apoptotic process Source: Ensembl
- negative regulation of transcription, DNA-templated Source: GO_Central
- negative regulation of transcription by RNA polymerase II Source: Ensembl
- piRNA metabolic process Source: UniProtKB
- regulation of gene silencing by miRNA Source: InterPro
- regulation of organ growth Source: Ensembl
- spermatogenesis Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Differentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q96JY0 |
Reactomei | R-HSA-5601884, PIWI-interacting RNA (piRNA) biogenesis |
Names & Taxonomyi
Protein namesi | Recommended name: Protein maelstrom homolog |
Gene namesi | Name:MAEL |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000143194.12 |
HGNCi | HGNC:25929, MAEL |
MIMi | 611368, gene |
neXtProti | NX_Q96JY0 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Other locations
- Cytoplasm By similarity
Note: Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Specifically localizes to piP-bodies, a subset of the nuage which contains secondary piRNAs (By similarity).By similarity
Nucleus
- nucleus Source: UniProtKB
Other locations
- autosome Source: Ensembl
- chromatin Source: Ensembl
- chromatoid body Source: Ensembl
- cytoplasm Source: UniProtKB
- P granule Source: UniProtKB
- perinuclear region of cytoplasm Source: Ensembl
- piP-body Source: UniProtKB
- XY body Source: Ensembl
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 84944 |
OpenTargetsi | ENSG00000143194 |
PharmGKBi | PA142671488 |
Miscellaneous databases
Pharosi | Q96JY0, Tbio |
Polymorphism and mutation databases
BioMutai | MAEL |
DMDMi | 74760900 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000232501 | 1 – 434 | Protein maelstrom homologAdd BLAST | 434 |
Proteomic databases
MassIVEi | Q96JY0 |
PaxDbi | Q96JY0 |
PeptideAtlasi | Q96JY0 |
PRIDEi | Q96JY0 |
ProteomicsDBi | 77014 [Q96JY0-1] 77015 [Q96JY0-2] 77016 [Q96JY0-3] |
PTM databases
iPTMneti | Q96JY0 |
PhosphoSitePlusi | Q96JY0 |
Expressioni
Tissue specificityi
Testis-specific. Expressed in various cancer cell lines, probably due to demethylation of its promoter.2 Publications
Gene expression databases
Bgeei | ENSG00000143194, Expressed in testis and 110 other tissues |
ExpressionAtlasi | Q96JY0, baseline and differential |
Genevisiblei | Q96JY0, HS |
Organism-specific databases
HPAi | ENSG00000143194, Tissue enriched (testis) |
Interactioni
Subunit structurei
Interacts with SMARCB1, SIN3B and DDX4.
Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2 (By similarity).
Interacts with TEX19 (By similarity).
By similarityProtein-protein interaction databases
BioGRIDi | 124377, 16 interactors |
IntActi | Q96JY0, 1 interactor |
STRINGi | 9606.ENSP00000356846 |
Miscellaneous databases
RNActi | Q96JY0, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | Q96JY0 |
SMRi | Q96JY0 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96JY0 |
Family & Domainsi
Sequence similaritiesi
Belongs to the maelstrom family.Curated
Phylogenomic databases
eggNOGi | ENOG502QTQB, Eukaryota |
GeneTreei | ENSGT00390000003645 |
InParanoidi | Q96JY0 |
OMAi | GARNAYY |
OrthoDBi | 457764at2759 |
PhylomeDBi | Q96JY0 |
TreeFami | TF323573 |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR024970, Maelstrom IPR039259, Protein_maelstrom |
PANTHERi | PTHR21358, PTHR21358, 1 hit |
Pfami | View protein in Pfam PF09011, HMG_box_2, 1 hit PF13017, Maelstrom, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96JY0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPNRKASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS SDWALLREEE
60 70 80 90 100
KEKYAEMARE WRAAQGKDPG PSEKQKPVFT PLRRPGMLVP KQNVSPPDMS
110 120 130 140 150
ALSLKGDQAL LGGIFYFLNI FSHGELPPHC EQRFLPCEIG CVKYSLQEGI
160 170 180 190 200
MADFHSFINP GEIPRGFRFH CQAASDSSHK IPISNFERGH NQATVLQNLY
210 220 230 240 250
RFIHPNPGNW PPIYCKSDDR TRVNWCLKHM AKASEIRQDL QLLTVEDLVV
260 270 280 290 300
GIYQQKFLKE PSKTWIRSLL DVAMWDYSSN TRCKWHEEND ILFCALAVCK
310 320 330 340 350
KIAYCISNSL ATLFGIQLTE AHVPLQDYEA SNSVTPKMVV LDAGRYQKLR
360 370 380 390 400
VGSSGFSHFN SSNEEQRSNT PIGDYPSRAK ISGQNSSVRG RGITRLLESI
410 420 430
SNSSSNIHKF SNCDTSLSPY MSQKDGYKSF SSLS
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketX6RGB1 | X6RGB1_HUMAN | Protein maelstrom homolog | MAEL | 316 | Annotation score: | ||
E9JVC4 | E9JVC4_HUMAN | Maelstrom homolog (Drosophila), iso... | MAEL hCG_37994 | 378 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034103 | 41 | S → A. Corresponds to variant dbSNP:rs11578336Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036660 | 1 – 278 | Missing in isoform 3. 2 PublicationsAdd BLAST | 278 | |
Alternative sequenceiVSP_036661 | 45 – 75 | Missing in isoform 2. CuratedAdd BLAST | 31 | |
Alternative sequenceiVSP_036662 | 279 – 281 | SNT → MIQ in isoform 3. 2 Publications | 3 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ076156 mRNA Translation: AAY82463.1 GU383113 mRNA Translation: ADU33235.1 AK027810 mRNA Translation: BAB55385.1 AK302253 mRNA Translation: BAG63605.1 AL158837 Genomic DNA No translation available. BC028595 mRNA Translation: AAH28595.1 BC034310 mRNA Translation: AAH34310.1 AL133073 mRNA Translation: CAB61396.1 |
CCDSi | CCDS1257.1 [Q96JY0-1] CCDS65712.1 [Q96JY0-2] |
PIRi | T42673 |
RefSeqi | NP_001273306.1, NM_001286377.1 [Q96JY0-2] NP_001273307.1, NM_001286378.1 NP_116247.1, NM_032858.2 [Q96JY0-1] |
Genome annotation databases
Ensembli | ENST00000367870; ENSP00000356844; ENSG00000143194 [Q96JY0-2] ENST00000367872; ENSP00000356846; ENSG00000143194 [Q96JY0-1] |
GeneIDi | 84944 |
KEGGi | hsa:84944 |
UCSCi | uc001gdy.3, human [Q96JY0-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ076156 mRNA Translation: AAY82463.1 GU383113 mRNA Translation: ADU33235.1 AK027810 mRNA Translation: BAB55385.1 AK302253 mRNA Translation: BAG63605.1 AL158837 Genomic DNA No translation available. BC028595 mRNA Translation: AAH28595.1 BC034310 mRNA Translation: AAH34310.1 AL133073 mRNA Translation: CAB61396.1 |
CCDSi | CCDS1257.1 [Q96JY0-1] CCDS65712.1 [Q96JY0-2] |
PIRi | T42673 |
RefSeqi | NP_001273306.1, NM_001286377.1 [Q96JY0-2] NP_001273307.1, NM_001286378.1 NP_116247.1, NM_032858.2 [Q96JY0-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2CTO | NMR | - | A | 1-80 | [»] | |
BMRBi | Q96JY0 | |||||
SMRi | Q96JY0 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124377, 16 interactors |
IntActi | Q96JY0, 1 interactor |
STRINGi | 9606.ENSP00000356846 |
PTM databases
iPTMneti | Q96JY0 |
PhosphoSitePlusi | Q96JY0 |
Polymorphism and mutation databases
BioMutai | MAEL |
DMDMi | 74760900 |
Proteomic databases
MassIVEi | Q96JY0 |
PaxDbi | Q96JY0 |
PeptideAtlasi | Q96JY0 |
PRIDEi | Q96JY0 |
ProteomicsDBi | 77014 [Q96JY0-1] 77015 [Q96JY0-2] 77016 [Q96JY0-3] |
Protocols and materials databases
Antibodypediai | 34338, 61 antibodies |
DNASUi | 84944 |
Genome annotation databases
Ensembli | ENST00000367870; ENSP00000356844; ENSG00000143194 [Q96JY0-2] ENST00000367872; ENSP00000356846; ENSG00000143194 [Q96JY0-1] |
GeneIDi | 84944 |
KEGGi | hsa:84944 |
UCSCi | uc001gdy.3, human [Q96JY0-1] |
Organism-specific databases
CTDi | 84944 |
DisGeNETi | 84944 |
EuPathDBi | HostDB:ENSG00000143194.12 |
GeneCardsi | MAEL |
HGNCi | HGNC:25929, MAEL |
HPAi | ENSG00000143194, Tissue enriched (testis) |
MIMi | 611368, gene |
neXtProti | NX_Q96JY0 |
OpenTargetsi | ENSG00000143194 |
PharmGKBi | PA142671488 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTQB, Eukaryota |
GeneTreei | ENSGT00390000003645 |
InParanoidi | Q96JY0 |
OMAi | GARNAYY |
OrthoDBi | 457764at2759 |
PhylomeDBi | Q96JY0 |
TreeFami | TF323573 |
Enzyme and pathway databases
PathwayCommonsi | Q96JY0 |
Reactomei | R-HSA-5601884, PIWI-interacting RNA (piRNA) biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 84944, 4 hits in 847 CRISPR screens |
ChiTaRSi | MAEL, human |
EvolutionaryTracei | Q96JY0 |
GenomeRNAii | 84944 |
Pharosi | Q96JY0, Tbio |
PROi | PR:Q96JY0 |
RNActi | Q96JY0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143194, Expressed in testis and 110 other tissues |
ExpressionAtlasi | Q96JY0, baseline and differential |
Genevisiblei | Q96JY0, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR024970, Maelstrom IPR039259, Protein_maelstrom |
PANTHERi | PTHR21358, PTHR21358, 1 hit |
Pfami | View protein in Pfam PF09011, HMG_box_2, 1 hit PF13017, Maelstrom, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MAEL_HUMAN | |
Accessioni | Q96JY0Primary (citable) accession number: Q96JY0 Secondary accession number(s): B4DY43 Q9UIW6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 18, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations