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Protein

MAM domain-containing glycosylphosphatidylinositol anchor protein 1

Gene

MDGA1

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

Functioni

Required for radial migration of cortical neurons in the superficial layer of the neocortex (By similarity). Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2.By similarity1 Publication

GO - Biological processi

  • brain development Source: HGNC
  • neuron migration Source: UniProtKB
  • spinal cord association neuron differentiation Source: HGNC

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins

Names & Taxonomyi

Protein namesi
Recommended name:
MAM domain-containing glycosylphosphatidylinositol anchor protein 1
Alternative name(s):
GPI and MAM protein
Short name:
GPIM
Glycosylphosphatidylinositol-MAM
MAM domain-containing protein 3
Gene namesi
Name:MDGA1
Synonyms:MAMDC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112139.14
HGNCiHGNC:19267 MDGA1
MIMi609626 gene
neXtProtiNX_Q8NFP4

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

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi266727
OpenTargetsiENSG00000112139
PharmGKBiPA134864540

Polymorphism and mutation databases

BioMutaiMDGA1
DMDMi46396459

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000001486419 – 932MAM domain-containing glycosylphosphatidylinositol anchor protein 1Add BLAST914
PropeptideiPRO_0000292042933 – 955Removed in mature formAdd BLAST23

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi42N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi60 ↔ 108PROSITE-ProRule annotation
Glycosylationi90N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi157 ↔ 214PROSITE-ProRule annotation
Glycosylationi235N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi247N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi257N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi262 ↔ 308PROSITE-ProRule annotation
Glycosylationi307N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi331N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi357 ↔ 415PROSITE-ProRule annotation
Glycosylationi432N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi463 ↔ 514PROSITE-ProRule annotation
Disulfide bondi560 ↔ 615PROSITE-ProRule annotation
Glycosylationi655N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi747N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi826N-linked (GlcNAc...) asparagineSequence analysis1
Lipidationi932GPI-anchor amidated serineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

EPDiQ8NFP4
PaxDbiQ8NFP4
PeptideAtlasiQ8NFP4
PRIDEiQ8NFP4
ProteomicsDBi73330
73331 [Q8NFP4-2]

PTM databases

iPTMnetiQ8NFP4
PhosphoSitePlusiQ8NFP4

Expressioni

Tissue specificityi

Has been found in brain, heart, skeletal muscle and kidney. Found to be overexpressed in tumor tissues.

Gene expression databases

BgeeiENSG00000112139
CleanExiHS_MDGA1
ExpressionAtlasiQ8NFP4 baseline and differential
GenevisibleiQ8NFP4 HS

Organism-specific databases

HPAiHPA031235
HPA050382

Interactioni

Subunit structurei

Interacts heterophilically through its MAM domain with proteins in axon-rich regions and through its Ig-like domains with proteins in differentiating muscle (By similarity). Interacts (through the Ig-like domains) with NLGN2.By similarity1 Publication

Protein-protein interaction databases

BioGridi129333, 1 interactor
STRINGi9606.ENSP00000402584

Structurei

Secondary structure

1955
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi23 – 33Combined sources11
Beta strandi36 – 40Combined sources5
Beta strandi45 – 51Combined sources7
Beta strandi56 – 66Combined sources11
Beta strandi69 – 74Combined sources6
Beta strandi77 – 79Combined sources3
Helixi81 – 83Combined sources3
Beta strandi93 – 95Combined sources3
Helixi100 – 102Combined sources3
Beta strandi104 – 111Combined sources8
Beta strandi113 – 116Combined sources4
Beta strandi118 – 129Combined sources12
Beta strandi133 – 139Combined sources7
Beta strandi152 – 158Combined sources7
Beta strandi161 – 163Combined sources3
Beta strandi166 – 174Combined sources9
Turni178 – 180Combined sources3
Beta strandi184 – 187Combined sources4
Beta strandi193 – 201Combined sources9
Beta strandi206 – 208Combined sources3
Beta strandi210 – 217Combined sources8
Helixi221 – 223Combined sources3
Beta strandi227 – 232Combined sources6
Beta strandi241 – 246Combined sources6
Beta strandi248 – 252Combined sources5
Beta strandi258 – 266Combined sources9
Beta strandi272 – 274Combined sources3
Beta strandi292 – 297Combined sources6
Helixi300 – 302Combined sources3
Beta strandi304 – 311Combined sources8
Beta strandi318 – 326Combined sources9

3D structure databases

ProteinModelPortaliQ8NFP4
SMRiQ8NFP4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 123Ig-like 1Add BLAST100
Domaini132 – 230Ig-like 2Add BLAST99
Domaini240 – 323Ig-like 3Add BLAST84
Domaini338 – 432Ig-like 4Add BLAST95
Domaini440 – 532Ig-like 5Add BLAST93
Domaini539 – 631Ig-like 6Add BLAST93
Domaini643 – 743Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST101
Domaini751 – 918MAMPROSITE-ProRule annotationAdd BLAST168

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IF9B Eukaryota
ENOG410XPYU LUCA
GeneTreeiENSGT00720000108445
HOVERGENiHBG052403
InParanoidiQ8NFP4
OMAiQAHVPIN
OrthoDBiEOG091G013O
PhylomeDBiQ8NFP4
TreeFamiTF330345

Family and domain databases

CDDicd00063 FN3, 1 hit
cd06263 MAM, 1 hit
Gene3Di2.60.40.10, 7 hits
InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR000998 MAM_dom
PfamiView protein in Pfam
PF00629 MAM, 1 hit
SMARTiView protein in SMART
SM00409 IG, 6 hits
SM00408 IGc2, 6 hits
SM00137 MAM, 1 hit
SUPFAMiSSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 2 hits
SSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS50835 IG_LIKE, 6 hits
PS50060 MAM_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NFP4-1) [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
MEVTCLLLLA LIPFHCRGQG VYAPAQAQIV HAGQACVVKE DNISERVYTI
60 70 80 90 100
REGDTLMLQC LVTGHPRPQV RWTKTAGSAS DKFQETSVFN ETLRIERIAR
110 120 130 140 150
TQGGRYYCKA ENGVGVPAIK SIRVDVQYLD EPMLTVHQTV SDVRGNFYQE
160 170 180 190 200
KTVFLRCTVN SNPPARFIWK RGSDTLSHSQ DNGVDIYEPL YTQGETKVLK
210 220 230 240 250
LKNLRPQDYA SYTCQVSVRN VCGIPDKAIT FRLTNTTAPP ALKLSVNETL
260 270 280 290 300
VVNPGENVTV QCLLTGGDPL PQLQWSHGPG PLPLGALAQG GTLSIPSVQA
310 320 330 340 350
RDSGYYNCTA TNNVGNPAKK TVNLLVRSMK NATFQITPDV IKESENIQLG
360 370 380 390 400
QDLKLSCHVD AVPQEKVTYQ WFKNGKPARM SKRLLVTRND PELPAVTSSL
410 420 430 440 450
ELIDLHFSDY GTYLCMASFP GAPVPDLSVE VNISSETVPP TISVPKGRAV
460 470 480 490 500
VTVREGSPAE LQCEVRGKPR PPVLWSRVDK EAALLPSGLP LEETPDGKLR
510 520 530 540 550
LERVSRDMSG TYRCQTARYN GFNVRPREAQ VQLNVQFPPE VEPSSQDVRQ
560 570 580 590 600
ALGRPVLLRC SLLRGSPQRI ASAVWRFKGQ LLPPPPVVPA AAEAPDHAEL
610 620 630 640 650
RLDAVTRDSS GSYECSVSND VGSAACLFQV SAKAYSPEFY FDTPNPTRSH
660 670 680 690 700
KLSKNYSYVL QWTQREPDAV DPVLNYRLSI RQLNQHNAVV KAIPVRRVEK
710 720 730 740 750
GQLLEYILTD LRVPHSYEVR LTPYTTFGAG DMASRIIHYT EPINSPNLSD
760 770 780 790 800
NTCHFEDEKI CGYTQDLTDN FDWTRQNALT QNPKRSPNTG PPTDISGTPE
810 820 830 840 850
GYYMFIETSR PRELGDRARL VSPLYNASAK FYCVSFFYHM YGKHIGSLNL
860 870 880 890 900
LVRSRNKGAL DTHAWSLSGN KGNVWQQAHV PISPSGPFQI IFEGVRGPGY
910 920 930 940 950
LGDIAIDDVT LKKGECPRKQ TDPNKVVVMP GSGAPCQSSP QLWGPMAIFL

LALQR
Length:955
Mass (Da):105,790
Last modified:October 1, 2002 - v1
Checksum:iBD41A1EB10A05962
GO
Isoform 2 (identifier: Q8NFP4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     926-955: VVVMPGSGAPCQSSPQLWGPMAIFLLALQR → GARREGGGGA...SDGNHVALTV

Note: No experimental confirmation available.
Show »
Length:973
Mass (Da):107,344
Checksum:i23C274E59E6F3F8E
GO

Sequence cautioni

The sequence BAC03502 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04766061L → P. Corresponds to variant dbSNP:rs10947690Ensembl.1
Natural variantiVAR_077845935P → S1 PublicationCorresponds to variant dbSNP:rs368283829Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009835926 – 955VVVMP…LALQR → GARREGGGGAESGGSCAWRG FLSVEGGCLGLNRGSECLSD GNHVALTV in isoform 2. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF478693 mRNA Translation: AAM77220.1
AL049553 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03952.1
AK090677 mRNA Translation: BAC03502.1 Different initiation.
CCDSiCCDS47417.1 [Q8NFP4-1]
RefSeqiNP_705691.1, NM_153487.3 [Q8NFP4-1]
XP_006715119.1, XM_006715056.3 [Q8NFP4-2]
UniGeneiHs.437993

Genome annotation databases

EnsembliENST00000434837; ENSP00000402584; ENSG00000112139 [Q8NFP4-1]
ENST00000505425; ENSP00000422042; ENSG00000112139 [Q8NFP4-2]
GeneIDi266727
KEGGihsa:266727
UCSCiuc003onu.2 human [Q8NFP4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMDGA1_HUMAN
AccessioniPrimary (citable) accession number: Q8NFP4
Secondary accession number(s): A6NHG0, Q8NBE3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: October 1, 2002
Last modified: June 20, 2018
This is version 135 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

Documents

  1. Human chromosome 6
    Human chromosome 6: 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

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