Q9UJ55 (MAGL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
MAGE-like protein 2

Alternative name(s):
Necdin-like protein 1
Protein nM15

Gene names

Name:	MAGEL2
Synonyms:	NDNL1

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	529 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Tissue specificity	Expressed in placenta, fetal and adult brain. Not detected in heart and small intestine, very low levels in fibroblasts. Not expressed in brain of a Prader-Willi patient.
Involvement in disease	Note=May play a role in Prader-Willi syndrome (PWS) which is a contiguous gene syndrome resulting from inactivity of the paternal copies of a number of genes on 15q11, through deletion or disruption of these genes or maternal uniparental disomy 15. The PWS syndrome is characterized by muscular hypotonia, mental retardation, short stature, obesity, hypogonadotropic hypogonadism, and small hands and feet.
Sequence similarities	Contains 1 MAGE domain.

Ontologies

Keywords
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 529	529	MAGE-like protein 2		PRO_0000156738
Regions
	Domain	300 – 499	200	MAGE

Sequences

	Sequence		Length	Mass (Da)
	Q9UJ55 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 5E4FBBCB0D909324	FASTA	529	58,669
	10 20 30 40 50 60 MQGLFYRPQG SSKERRTSSK ERRAPSKDRM IFAATFCAPK AVSAARAHLP AAWKNLPATP 70 80 90 100 110 120 ETFAPSSSVF PATSQFQPAS LNAFKGPSAA SETPKSLPYA LQDPFACVEA LPAVPWVPQP 130 140 150 160 170 180 NMNASKASQA VPTFLMATAA APQATATTQE ASKTSVEPPR RSGKATRKKK HLEAQEDSRG 190 200 210 220 230 240 HTLAFHDWQG PRPWENLNLS DWEVQSPIQV SGDWEHPNTP RGLSGWEGPS TSRILSGWEG 250 260 270 280 290 300 PSASWALSAW EGPSTSRALG LSESPGSSLP VVVSEVASVS PGSSATQDNS KVEAQPLSPL 310 320 330 340 350 360 DERANALVQF LLVKDQAKVP VQRSEMVKVI LREYKDECLD IINRANNKLE CAFGYQLKEI 370 380 390 400 410 420 DTKNHAYIII NKLGYHTGNL VASYLDRPKF GLLMVVLSLI FMKGNCVRED LIFNFLFKLG 430 440 450 460 470 480 LDVRETNGLF GNTKKLITEV FVRQKYLEYR RIPYTEPAEY EFLWGPRAFL ETSKMLVLRF 490 500 510 520 LAKLHKKDPQ SWPFHYLEAL AECEWEDTDE DEPDTGDSAH GPTSRPPPR

References

[1]	"The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region." Boccaccio I., Glatt-Deeley H., Watrin F., Roeckel N., Lalande M., Muscatelli F. Hum. Mol. Genet. 8:2497-2505(1999) [PubMed: 10556298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain and Placenta.
[2]	"Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype." Lee S., Kozlov S., Hernandez L., Chamberlain S.J., Brannan C.I., Stewart C.L., Wevrick R. Hum. Mol. Genet. 9:1813-1819(2000) [PubMed: 10915770] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ243531 mRNA. Translation: CAB62393.1. AF200625 Genomic DNA. Translation: AAG28577.1.
IPI	IPI00005120.
UniGene	Hs.141496.
3D structure databases
ProteinModelPortal	Q9UJ55.
SMR	Q9UJ55. Positions 294-507.
ModBase	Search...
Polymorphism databases
DMDM	17380152.
Proteomic databases
PRIDE	Q9UJ55.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Organism-specific databases
GeneCards	GC15M023888.
H-InvDB	HIX0026903.
HGNC	HGNC:6814. MAGEL2.
MIM	176270. phenotype. 605283. gene.
neXtProt	NX_Q9UJ55.
Orphanet	739. Prader-Willi syndrome.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	HBG052400.
PhylomeDB	Q9UJ55.
Gene expression databases
CleanEx	HS_MAGEL2.
Genevestigator	Q9UJ55.
Family and domain databases
InterPro	IPR002190. MAGE. [Graphical view]
PANTHER	PTHR11736. MAGE. 1 hit.
Pfam	PF01454. MAGE. 1 hit. [Graphical view]
PROSITE	PS50838. MAGE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

MAGL2_HUMAN

Accession

Primary (citable) accession number: Q9UJ55

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 54 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.