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Protein

Protein maelstrom homolog

Gene

MAEL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi4 – 7370HMG boxAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:25929. MAEL.

Subcellular locationi

  • Cytoplasm
  • Nucleus

  • 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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671488.

Polymorphism and mutation databases

BioMutaiMAEL.
DMDMi74760900.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 434434Protein maelstrom homologPRO_0000232501Add
BLAST

Proteomic databases

PaxDbiQ96JY0.
PRIDEiQ96JY0.

PTM databases

iPTMnetiQ96JY0.
PhosphoSiteiQ96JY0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ96JY0.
CleanExiHS_MAEL.
ExpressionAtlasiQ96JY0. baseline and differential.
GenevisibleiQ96JY0. HS.

Organism-specific databases

HPAiHPA028232.
HPA031140.

Interactioni

Subunit structurei

Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2 (By similarity).By similarity

Protein-protein interaction databases

BioGridi124377. 15 interactions.
IntActiQ96JY0. 1 interaction.
STRINGi9606.ENSP00000356846.

Structurei

Secondary structure

1
434
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi10 – 167Combined sources
Helixi19 – 257Combined sources
Helixi32 – 354Combined sources
Helixi37 – 393Combined sources
Helixi40 – 456Combined sources
Helixi48 – 6720Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CTONMR-A1-80[»]
ProteinModelPortaliQ96JY0.
SMRiQ96JY0. Positions 1-80.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96JY0.

Family & Domainsi

Sequence similaritiesi

Belongs to the maelstrom family.Curated
Contains 1 HMG box DNA-binding domain.Curated

Phylogenomic databases

eggNOGiENOG410INZ4. Eukaryota.
ENOG4111Z8I. LUCA.
GeneTreeiENSGT00390000003645.
HOGENOMiHOG000113457.
HOVERGENiHBG081947.
InParanoidiQ96JY0.
KOiK18411.
OMAiFIHPNPG.
OrthoDBiEOG7R2BMR.
PhylomeDBiQ96JY0.
TreeFamiTF323573.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR024970. Maelstrom.
[Graphical view]
PfamiPF09011. HMG_box_2. 1 hit.
PF13017. Maelstrom. 1 hit.
[Graphical view]
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 CAH69955.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411S → A.
Corresponds to variant rs11578336 [ dbSNP | Ensembl ].
VAR_034103

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 278278Missing in isoform 3. 2 PublicationsVSP_036660Add
BLAST
Alternative sequencei45 – 7531Missing in isoform 2. CuratedVSP_036661Add
BLAST
Alternative sequencei279 – 2813SNT → MIQ in isoform 3. 2 PublicationsVSP_036662

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

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. 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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CTONMR-A1-80[»]
ProteinModelPortaliQ96JY0.
SMRiQ96JY0. Positions 1-80.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124377. 15 interactions.
IntActiQ96JY0. 1 interaction.
STRINGi9606.ENSP00000356846.

PTM databases

iPTMnetiQ96JY0.
PhosphoSiteiQ96JY0.

Polymorphism and mutation databases

BioMutaiMAEL.
DMDMi74760900.

Proteomic databases

PaxDbiQ96JY0.
PRIDEiQ96JY0.

Protocols and materials databases

DNASUi84944.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi84944.
GeneCardsiMAEL.
HGNCiHGNC:25929. MAEL.
HPAiHPA028232.
HPA031140.
MIMi611368. gene.
neXtProtiNX_Q96JY0.
PharmGKBiPA142671488.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INZ4. Eukaryota.
ENOG4111Z8I. LUCA.
GeneTreeiENSGT00390000003645.
HOGENOMiHOG000113457.
HOVERGENiHBG081947.
InParanoidiQ96JY0.
KOiK18411.
OMAiFIHPNPG.
OrthoDBiEOG7R2BMR.
PhylomeDBiQ96JY0.
TreeFamiTF323573.

Enzyme and pathway databases

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

Miscellaneous databases

EvolutionaryTraceiQ96JY0.
GenomeRNAii84944.
PROiQ96JY0.
SOURCEiSearch...

Gene expression databases

BgeeiQ96JY0.
CleanExiHS_MAEL.
ExpressionAtlasiQ96JY0. baseline and differential.
GenevisibleiQ96JY0. HS.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR024970. Maelstrom.
[Graphical view]
PfamiPF09011. HMG_box_2. 1 hit.
PF13017. Maelstrom. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "MAEL, a gene expressed specifically in testis."
    Zhou J., Zhang J.
    Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Testis.
  2. "Identification of alternative splicing variants of MAEL gene."
    Zhou J., Xiao L., Sun W., Wang L., Wu Y., Qiao X., Zhang J.
    Submitted (JAN-2010) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    Tissue: Testis.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta and Testis.
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Testis.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 59-434 (ISOFORM 1).
    Tissue: Testis.
  7. "Identification of a novel human cancer/testis gene MAEL that is regulated by DNA methylation."
    Xiao L., Wang Y., Zhou Y., Sun Y., Sun W., Wang L., Zhou C., Zhou J., Zhang J.
    Mol. Biol. Rep. 37:2355-2360(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  8. "Solution structure of the HMG box-like domain from human hypothetical protein FLJ14904."
    RIKEN structural genomics initiative (RSGI)
    Submitted (NOV-2005) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 1-80.

Entry informationi

Entry nameiMAEL_HUMAN
AccessioniPrimary (citable) accession number: Q96JY0
Secondary accession number(s): B4DY43
, E9JVC3, Q49AP9, Q5VZP8, Q9UIW6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: December 1, 2001
Last modified: June 8, 2016
This is version 122 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.