Q96JY0 (MAEL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein maelstrom homolog

Gene names

Name:

MAEL

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	434 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a central role during spermatogenesis by repressing transposable elements and prevent 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 govern the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for localization of germ-cell factors to the meiotic nuage By similarity.
Subunit structure	Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2 By similarity.
Subcellular location	Cytoplasm. Nucleus. Note: Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon during meiosis. Specifically localizes to piP-bodies, a subset of the nuage which contains secondary piRNAs By similarity.
Tissue specificity	Testis-specific. Expressed in various cancer cell lines, probably due to demethylation of its promoter. Ref.1 Ref.6
Sequence similarities	Belongs to the maelstrom family. Contains 1 HMG box DNA-binding domain.
Sequence caution	The sequence CAH69955.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Differentiation Meiosis RNA-mediated gene silencing Spermatogenesis
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	DNA methylation involved in gamete generation Inferred from sequence or structural similarity. Source: UniProtKB cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW gene silencing by RNA Inferred from sequence or structural similarity. Source: UniProtKB multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW piRNA metabolic process Inferred from sequence or structural similarity. Source: UniProtKB spermatogenesis Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	piP-body Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96JY0-1)

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.

Isoform 2 (identifier: Q96JY0-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96JY0-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 434

434

Protein maelstrom homolog

PRO_0000232501

Regions

DNA binding

4 – 73

70

HMG box

Natural variations

Alternative sequence

1 – 278

278

Missing in isoform 3.

VSP_036660

Alternative sequence

45 – 75

31

Missing in isoform 2.

VSP_036661

Alternative sequence

279 – 281

3

SNT → MIQ in isoform 3.

VSP_036662

Natural variant

41

1

S → A.
Corresponds to variant rs11578336 [ dbSNP | Ensembl ].

VAR_034103

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

434

Helix Strand Turn

Details...

Helix

10 – 16

7

Helix

19 – 25

7

Helix

32 – 35

4

Helix

37 – 39

3

Helix

40 – 45

6

Helix

48 – 67

20

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: BBC8319985857A4E	FASTA	434	49,219
	10 20 30 40 50 60 MPNRKASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS SDWALLREEE KEKYAEMARE 70 80 90 100 110 120 WRAAQGKDPG PSEKQKPVFT PLRRPGMLVP KQNVSPPDMS ALSLKGDQAL LGGIFYFLNI 130 140 150 160 170 180 FSHGELPPHC EQRFLPCEIG CVKYSLQEGI MADFHSFINP GEIPRGFRFH CQAASDSSHK 190 200 210 220 230 240 IPISNFERGH NQATVLQNLY RFIHPNPGNW PPIYCKSDDR TRVNWCLKHM AKASEIRQDL 250 260 270 280 290 300 QLLTVEDLVV GIYQQKFLKE PSKTWIRSLL DVAMWDYSSN TRCKWHEEND ILFCALAVCK 310 320 330 340 350 360 KIAYCISNSL ATLFGIQLTE AHVPLQDYEA SNSVTPKMVV LDAGRYQKLR VGSSGFSHFN 370 380 390 400 410 420 SSNEEQRSNT PIGDYPSRAK ISGQNSSVRG RGITRLLESI SNSSSNIHKF SNCDTSLSPY 430 MSQKDGYKSF SSLS
	Isoform 2 [UniParc]. Checksum: 4ED14B1C1DE630AF	FASTA	403	45,576
	10 20 30 40 50 60 MPNRKASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS SDWAKPVFTP LRRPGMLVPK 70 80 90 100 110 120 QNVSPPDMSA LSLKGDQALL GGIFYFLNIF SHGELPPHCE QRFLPCEIGC VKYSLQEGIM 130 140 150 160 170 180 ADFHSFINPG EIPRGFRFHC QAASDSSHKI PISNFERGHN QATVLQNLYR FIHPNPGNWP 190 200 210 220 230 240 PIYCKSDDRT RVNWCLKHMA KASEIRQDLQ LLTVEDLVVG IYQQKFLKEP SKTWIRSLLD 250 260 270 280 290 300 VAMWDYSSNT RCKWHEENDI LFCALAVCKK IAYCISNSLA TLFGIQLTEA HVPLQDYEAS 310 320 330 340 350 360 NSVTPKMVVL DAGRYQKLRV GSSGFSHFNS SNEEQRSNTP IGDYPSRAKI SGQNSSVRGR 370 380 390 400 GITRLLESIS NSSSNIHKFS NCDTSLSPYM SQKDGYKSFS SLS
	Isoform 3 [UniParc]. Checksum: A1A8B0BEB1508729	FASTA	156	17,268
	10 20 30 40 50 60 MIQRCKWHEE NDILFCALAV CKKIAYCISN SLATLFGIQL TEAHVPLQDY EASNSVTPKM 70 80 90 100 110 120 VVLDAGRYQK LRVGSSGFSH FNSSNEEQRS NTPIGDYPSR AKISGQNSSV RGRGITRLLE 130 140 150 SISNSSSNIH KFSNCDTSLS PYMSQKDGYK SFSSLS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta and Testis.
[3]	"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: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Testis.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 59-434 (ISOFORM 1). Tissue: Testis.
[6]	"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: 19693694] [Abstract] Cited for: TISSUE SPECIFICITY.
[7]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

DQ076156 mRNA. Translation: AAY82463.1.
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.

IPI

IPI00064475.
IPI00477136.
IPI00923411.

PIR

T42673.

RefSeq

NP_116247.1. NM_032858.1.

UniGene

Hs.651245.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2CTO	NMR	-	A	1-80	[»]

ProteinModelPortal

Q96JY0.

SMR

Q96JY0. Positions 1-80.

ModBase

Search...

Protein-protein interaction databases

STRING

Q96JY0.

Polymorphism databases

DMDM

74760900.

Proteomic databases

PRIDE

Q96JY0.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000367872; ENSP00000356846; ENSG00000143194.

GeneID

84944.

KEGG

hsa:84944.

UCSC

uc001gdy.1. human.

Organism-specific databases

CTD

84944.

GeneCards

GC01P166958.

H-InvDB

HIX0001292.

HGNC

HGNC:25929. MAEL.

HPA

HPA028232.
HPA031140.

MIM

611368. gene.

neXtProt

NX_Q96JY0.

PharmGKB

PA142671488.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG07503.

GeneTree

ENSGT00390000003645.

HOGENOM

HBG278838.

HOVERGEN

HBG081947.

InParanoid

Q96JY0.

OMA

YSSNTRC.

OrthoDB

EOG4BVRTN.

PhylomeDB

Q96JY0.

Gene expression databases

ArrayExpress

Q96JY0.

Bgee

Q96JY0.

CleanEx

HS_MAEL.

Genevestigator

Q96JY0.

Family and domain databases

InterPro

IPR015101. DUF1898.
IPR000910. HMG_HMG1/HMG2.
IPR009071. HMG_superfamily.
[Graphical view]

Gene3D

G3DSA:1.10.30.10. HMG-box. 1 hit.

Pfam

PF09011. DUF1898. 1 hit.
[Graphical view]

SUPFAM

SSF47095. HMG-box. 1 hit.

PROSITE

PS50118. HMG_BOX_2. False negative.
[Graphical view]

ProtoNet

Search...

Other

NextBio

75414.

SOURCE

Search...

Entry information

Entry name

MAEL_HUMAN

Accession

Primary (citable) accession number: Q96JY0
Secondary accession number(s): B4DY43 , Q49AP9, Q5VZP8, Q9UIW6

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 18, 2006
Last sequence update:	December 1, 2001
Last modified:	January 25, 2012
This is version 83 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.