Q9H0U3 (MAGT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Magnesium transporter protein 1
Short name=MagT1

Alternative name(s):
Implantation-associated protein
Short name=IAP

Gene names

Name:	MAGT1
Synonyms:	IAG2
ORF Names:	PSEC0084, UNQ628/PRO1244

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	335 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in N-glycosylation through its association with N-oligosaccharyl transferase. May be involved in Mg2+ transport in epithelial cells. Ref.1 Ref.11
Subunit structure	Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B By similarity.
Subcellular location	Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein Probable Ref.11.
Tissue specificity	Ubiquitous. Expressed at very low levels in brain, lung and kidney. Ref.1 Ref.10 Ref.11
Induction	Up-regulated by low extracellular Mg2+. Ref.11
Involvement in disease	Defects in MAGT1 are the cause of mental retardation X-linked type 95 (MRX95) [MIM:300716]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation. Ref.14 Defects in MAGT1 are the cause of immunodeficiency X-linked with magnesium defect Epstein-Barr virus infection and neoplasia (XMEN) [MIM:300853]. XMEN is a disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Ref.13
Sequence similarities	Belongs to the OST3/OST6 family.

Ontologies

Keywords
Biological process	Transport
Cellular component	Cell membrane Endoplasmic reticulum Membrane
Disease	Disease mutation Mental retardation
Domain	Signal Transmembrane Transmembrane helix
Ligand	Magnesium
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cognition Inferred from mutant phenotype Ref.14. Source: UniProtKB protein N-linked glycosylation Non-traceable author statement Ref.14. Source: UniProtKB
Cellular component	integral to plasma membrane Non-traceable author statement Ref.11. Source: UniProtKB oligosaccharyltransferase complex Inferred from direct assay. Source: HGNC
Molecular function	magnesium ion transmembrane transporter activity Inferred from mutant phenotype Ref.11. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 29	29	Potential
	Chain	30 – 335	306	Magnesium transporter protein 1		PRO_0000246057
Regions
	Topological domain	30 – 184	155	Extracellular Potential
	Transmembrane	185 – 205	21	Helical; Potential
	Topological domain	206 – 209	4	Cytoplasmic Potential
	Transmembrane	210 – 230	21	Helical; Potential
	Topological domain	231 – 270	40	Extracellular Potential
	Transmembrane	271 – 291	21	Helical; Potential
	Topological domain	292 – 300	9	Cytoplasmic Potential
	Transmembrane	301 – 321	21	Helical; Potential
	Topological domain	322 – 335	14	Extracellular Potential
Amino acid modifications
	Glycosylation	71	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	311	1	V → G in MRX95. Ref.14		VAR_045837
Experimental info
	Sequence conflict	30	1	Q → K in BAC11592. Ref.4
	Sequence conflict	290	1	A → V in BAD96851. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q9H0U3 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 29B8E9888FDE593E	FASTA	335	38,037
	10 20 30 40 50 60 MAARWRFWCV SVTMVVALLI VCDVPSASAQ RKKEMVLSEK VSQLMEWTNK RPVIRMNGDK 70 80 90 100 110 120 FRRLVKAPPR NYSVIVMFTA LQLHRQCVVC KQADEEFQIL ANSWRYSSAF TNRIFFAMVD 130 140 150 160 170 180 FDEGSDVFQM LNMNSAPTFI NFPAKGKPKR GDTYELQVRG FSAEQIARWI ADRTDVNIRV 190 200 210 220 230 240 IRPPNYAGPL MLGLLLAVIG GLVYLRRSNM EFLFNKTGWA FAALCFVLAM TSGQMWNHIR 250 260 270 280 290 300 GPPYAHKNPH TGHVNYIHGS SQAQFVAETH IVLLFNGGVT LGMVLLCEAA TSDMDIGKRK 310 320 330 IMCVAGIGLV VLFFSWMLSI FRSKYHGYPY SFLMS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of a novel mammalian Mg2+ transporter with channel-like properties." Goytain A., Quamme G.A. BMC Genomics 6:48-48(2005) [PubMed: 15804357] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[4]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed: 16303743] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Embryo.
[5]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[6]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[7]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"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]. Tissue: Ovary and Placenta.
[10]	"Oligosaccharyltransferase isoforms that contain different catalytic STT3 subunits have distinct enzymatic properties." Kelleher D.J., Karaoglu D., Mandon E.C., Gilmore R. Mol. Cell 12:101-111(2003) [PubMed: 12887896] [Abstract] Cited for: ASSOCIATION WITH THE OLIGOSACCHARYL TRANSFERASE COMPLEX, TISSUE SPECIFICITY.
[11]	"Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development." Zhou H., Clapham D.E. Proc. Natl. Acad. Sci. U.S.A. 106:15750-15755(2009) [PubMed: 19717468] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, TOPOLOGY.
[12]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]	"Second messenger role for Mg2+ revealed by human T-cell immunodeficiency." Li F.Y., Chaigne-Delalande B., Kanellopoulou C., Davis J.C., Matthews H.F., Douek D.C., Cohen J.I., Uzel G., Su H.C., Lenardo M.J. Nature 475:471-476(2011) [PubMed: 21796205] [Abstract] Cited for: INVOLVEMENT IN XMEN.
[14]	"Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation." Molinari F., Foulquier F., Tarpey P.S., Morelle W., Boissel S., Teague J., Edkins S., Futreal P.A., Stratton M.R., Turner G., Matthijs G., Gecz J., Munnich A., Colleaux L. Am. J. Hum. Genet. 82:1150-1157(2008) [PubMed: 18455129] [Abstract] Cited for: VARIANT MRX95 GLY-311.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	DQ000004 mRNA. Translation: AAY18811.1. AY358691 mRNA. Translation: AAQ89054.1. AK075394 mRNA. Translation: BAC11592.1. AL136636 mRNA. Translation: CAB66571.1. AK223131 mRNA. Translation: BAD96851.1. AK314309 mRNA. Translation: BAG36961.1. AL138743, AL356235 Genomic DNA. Translation: CAI39753.1. AL356235, AL138743 Genomic DNA. Translation: CAH70524.1. CH471104 Genomic DNA. Translation: EAW98609.1. CH471104 Genomic DNA. Translation: EAW98610.1. BC041014 mRNA. Translation: AAH41014.1. BC060842 mRNA. Translation: AAH60842.1.
IPI	IPI00301202.
RefSeq	NP_115497.4. NM_032121.5.
UniGene	Hs.323562. Hs.728860.
3D structure databases
ProteinModelPortal	Q9H0U3.
SMR	Q9H0U3. Positions 49-175.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H0U3. 1 interaction.
STRING	Q9H0U3.
Protein family/group databases
TCDB	9.A.45.1.1. magnesium Transporter1 (MagT1) family.
Polymorphism databases
DMDM	74761391.
Proteomic databases
PRIDE	Q9H0U3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000358075; ENSP00000354649; ENSG00000102158. ENST00000453109; ENSP00000397152; ENSG00000102158.
GeneID	84061.
KEGG	hsa:84061.
UCSC	uc004ecs.1. human.
Organism-specific databases
CTD	84061.
GeneCards	GC0XM077081.
H-InvDB	HIX0016886.
HGNC	HGNC:28880. MAGT1.
MIM	300715. gene. 300716. phenotype. 300853. phenotype.
neXtProt	NX_Q9H0U3.
Orphanet	777. X-linked nonsyndromic intellectual deficit.
PharmGKB	PA162394900.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000012030.
HOVERGEN	HBG002493.
InParanoid	Q9H0U3.
OrthoDB	EOG4KD6N9.
PhylomeDB	Q9H0U3.
Gene expression databases
ArrayExpress	Q9H0U3.
Bgee	Q9H0U3.
CleanEx	HS_MAGT1.
Genevestigator	Q9H0U3.
GermOnline	ENSG00000102158. Homo sapiens.
Family and domain databases
InterPro	IPR006844. Mg_transporter-1. IPR021149. OligosaccharylTrfase_OST3/OST6. IPR012336. Thioredoxin-like_fold. [Graphical view]
Gene3D	G3DSA:3.40.30.10. Thioredoxin_fold. 1 hit.
PANTHER	PTHR12692. OST3_OST6. 1 hit.
Pfam	PF04756. OST3_OST6. 1 hit. [Graphical view]
SUPFAM	SSF52833. Thiordxn-like_fd. 1 hit.
ProtoNet	Search...
Other
NextBio	73215.
SOURCE	Search...

Entry information

Entry name

MAGT1_HUMAN

Accession

Primary (citable) accession number: Q9H0U3
Secondary accession number(s): B2RAR4 , D3DTE3, Q53G00, Q8NBN6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2006
Last sequence update:	March 1, 2001
Last modified:	January 25, 2012
This is version 100 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.