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Protein

Protein maelstrom homolog

Gene

MAEL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi4 – 73HMG boxAdd BLAST70

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis

Enzyme and pathway databases

ReactomeiR-HSA-5601884 PIWI-interacting RNA (piRNA) biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein maelstrom homolog
Gene namesi
Name:MAEL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143194.12
HGNCiHGNC:25929 MAEL
MIMi611368 gene
neXtProtiNX_Q96JY0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84944
OpenTargetsiENSG00000143194
PharmGKBiPA142671488

Polymorphism and mutation databases

BioMutaiMAEL
DMDMi74760900

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002325011 – 434Protein maelstrom homologAdd BLAST434

Proteomic databases

PaxDbiQ96JY0
PeptideAtlasiQ96JY0
PRIDEiQ96JY0

PTM databases

iPTMnetiQ96JY0
PhosphoSitePlusiQ96JY0

Expressioni

Tissue specificityi

Testis-specific. Expressed in various cancer cell lines, probably due to demethylation of its promoter.2 Publications

Gene expression databases

BgeeiENSG00000143194
CleanExiHS_MAEL
ExpressionAtlasiQ96JY0 baseline and differential
GenevisibleiQ96JY0 HS

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 similarity

Protein-protein interaction databases

BioGridi124377, 15 interactors
IntActiQ96JY0, 1 interactor
STRINGi9606.ENSP00000356846

Structurei

Secondary structure

1434
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi10 – 16Combined sources7
Helixi19 – 25Combined sources7
Helixi32 – 35Combined sources4
Helixi37 – 39Combined sources3
Helixi40 – 45Combined sources6
Helixi48 – 67Combined sources20

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CTONMR-A1-80[»]
ProteinModelPortaliQ96JY0
SMRiQ96JY0
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96JY0

Family & Domainsi

Sequence similaritiesi

Belongs to the maelstrom family.Curated

Phylogenomic databases

eggNOGiENOG410INZ4 Eukaryota
ENOG4111Z8I LUCA
GeneTreeiENSGT00390000003645
HOGENOMiHOG000113457
HOVERGENiHBG081947
InParanoidiQ96JY0
KOiK18411
OMAiRCKWHEE
OrthoDBiEOG091G0BYM
PhylomeDBiQ96JY0
TreeFamiTF323573

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR024970 Maelstrom
PfamiView protein in Pfam
PF09011 HMG_box_2, 1 hit
PF13017 Maelstrom, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96JY0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:434
Mass (Da):49,219
Last modified:December 1, 2001 - v1
Checksum:iBBC8319985857A4E
GO
Isoform 2 (identifier: Q96JY0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-75: Missing.

Note: No experimental confirmation available.
Show »
Length:403
Mass (Da):45,576
Checksum:i4ED14B1C1DE630AF
GO
Isoform 3 (identifier: Q96JY0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-278: Missing.
     279-281: SNT → MIQ

Show »
Length:156
Mass (Da):17,268
Checksum:iA1A8B0BEB1508729
GO

Sequence cautioni

The sequence CAH69955 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03410341S → A. Corresponds to variant dbSNP:rs11578336Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0366601 – 278Missing in isoform 3. 2 PublicationsAdd BLAST278
Alternative sequenceiVSP_03666145 – 75Missing in isoform 2. CuratedAdd BLAST31
Alternative sequenceiVSP_036662279 – 281SNT → MIQ in isoform 3. 2 Publications3

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 Translation: CAH69955.1 Sequence problems.
AL158837 Genomic DNA Translation: CAH69956.1
BC028595 mRNA Translation: AAH28595.1
BC034310 mRNA Translation: AAH34310.1
AL133073 mRNA Translation: CAB61396.1
CCDSiCCDS1257.1 [Q96JY0-1]
CCDS65712.1 [Q96JY0-2]
PIRiT42673
RefSeqiNP_001273306.1, NM_001286377.1 [Q96JY0-2]
NP_001273307.1, NM_001286378.1
NP_116247.1, NM_032858.2 [Q96JY0-1]
UniGeneiHs.651245

Genome annotation databases

EnsembliENST00000367870; ENSP00000356844; ENSG00000143194 [Q96JY0-2]
ENST00000367872; ENSP00000356846; ENSG00000143194 [Q96JY0-1]
GeneIDi84944
KEGGihsa:84944
UCSCiuc001gdy.3 human [Q96JY0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMAEL_HUMAN
AccessioniPrimary (citable) accession number: Q96JY0
Secondary accession number(s): B4DY43
, E9JVC3, Q49AP9, Q5VZP8, Q9UIW6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: December 1, 2001
Last modified: March 28, 2018
This is version 134 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

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