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Protein

MAM domain-containing glycosylphosphatidylinositol anchor protein 1

Gene

MDGA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

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

HGNCiHGNC:19267. MDGA1.

Subcellular locationi

GO - Cellular componenti

  • anchored component of plasma membrane Source: UniProtKB
  • extracellular space Source: UniProtKB
  • Golgi apparatus Source: HPA
  • plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134864540.

Polymorphism and mutation databases

BioMutaiMDGA1.
DMDMi46396459.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence analysisAdd
BLAST
Chaini19 – 932914MAM domain-containing glycosylphosphatidylinositol anchor protein 1PRO_0000014864Add
BLAST
Propeptidei933 – 95523Removed in mature formPRO_0000292042Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi42 – 421N-linked (GlcNAc...)Sequence analysis
Disulfide bondi60 ↔ 108PROSITE-ProRule annotation
Glycosylationi90 – 901N-linked (GlcNAc...)Sequence analysis
Disulfide bondi157 ↔ 214PROSITE-ProRule annotation
Glycosylationi235 – 2351N-linked (GlcNAc...)Sequence analysis
Glycosylationi247 – 2471N-linked (GlcNAc...)1 Publication
Glycosylationi257 – 2571N-linked (GlcNAc...)Sequence analysis
Disulfide bondi262 ↔ 308PROSITE-ProRule annotation
Glycosylationi307 – 3071N-linked (GlcNAc...)Sequence analysis
Glycosylationi331 – 3311N-linked (GlcNAc...)Sequence analysis
Disulfide bondi357 ↔ 415PROSITE-ProRule annotation
Glycosylationi432 – 4321N-linked (GlcNAc...)Sequence analysis
Disulfide bondi463 ↔ 514PROSITE-ProRule annotation
Disulfide bondi560 ↔ 615PROSITE-ProRule annotation
Glycosylationi655 – 6551N-linked (GlcNAc...)Sequence analysis
Glycosylationi747 – 7471N-linked (GlcNAc...)Sequence analysis
Glycosylationi826 – 8261N-linked (GlcNAc...)Sequence analysis
Lipidationi932 – 9321GPI-anchor amidated serineSequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

EPDiQ8NFP4.
PaxDbiQ8NFP4.
PeptideAtlasiQ8NFP4.
PRIDEiQ8NFP4.

PTM databases

iPTMnetiQ8NFP4.
PhosphoSiteiQ8NFP4.

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 interaction.
STRINGi9606.ENSP00000402584.

Structurei

3D structure databases

ProteinModelPortaliQ8NFP4.
SMRiQ8NFP4. Positions 52-736, 753-918.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 123100Ig-like 1Add
BLAST
Domaini132 – 23099Ig-like 2Add
BLAST
Domaini240 – 32384Ig-like 3Add
BLAST
Domaini338 – 43295Ig-like 4Add
BLAST
Domaini440 – 53293Ig-like 5Add
BLAST
Domaini539 – 63193Ig-like 6Add
BLAST
Domaini643 – 743101Fibronectin type-IIIPROSITE-ProRule annotationAdd
BLAST
Domaini751 – 918168MAMPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation
Contains 1 MAM domain.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IF9B. Eukaryota.
ENOG410XPYU. LUCA.
GeneTreeiENSGT00720000108445.
HOVERGENiHBG052403.
InParanoidiQ8NFP4.
OMAiNVQFPPE.
OrthoDBiEOG091G013O.
PhylomeDBiQ8NFP4.
TreeFamiTF330345.

Family and domain databases

CDDicd06263. MAM. 1 hit.
Gene3Di2.60.40.10. 7 hits.
InterProiIPR013320. ConA-like_dom.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR000998. MAM_dom.
[Graphical view]
PfamiPF00629. MAM. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 6 hits.
SM00408. IGc2. 6 hits.
SM00137. MAM. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 6 hits.
SSF49265. SSF49265. 2 hits.
SSF49899. SSF49899. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 6 hits.
PS50060. MAM_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611L → P.
Corresponds to variant rs10947690 [ dbSNP | Ensembl ].
VAR_047660

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei926 – 95530VVVMP…LALQR → GARREGGGGAESGGSCAWRG FLSVEGGCLGLNRGSECLSD GNHVALTV in isoform 2. 1 PublicationVSP_009835Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8NFP4.
SMRiQ8NFP4. Positions 52-736, 753-918.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129333. 1 interaction.
STRINGi9606.ENSP00000402584.

PTM databases

iPTMnetiQ8NFP4.
PhosphoSiteiQ8NFP4.

Polymorphism and mutation databases

BioMutaiMDGA1.
DMDMi46396459.

Proteomic databases

EPDiQ8NFP4.
PaxDbiQ8NFP4.
PeptideAtlasiQ8NFP4.
PRIDEiQ8NFP4.

Protocols and materials databases

DNASUi266727.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi266727.
GeneCardsiMDGA1.
HGNCiHGNC:19267. MDGA1.
HPAiHPA031235.
HPA050382.
MIMi609626. gene.
neXtProtiNX_Q8NFP4.
PharmGKBiPA134864540.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF9B. Eukaryota.
ENOG410XPYU. LUCA.
GeneTreeiENSGT00720000108445.
HOVERGENiHBG052403.
InParanoidiQ8NFP4.
OMAiNVQFPPE.
OrthoDBiEOG091G013O.
PhylomeDBiQ8NFP4.
TreeFamiTF330345.

Miscellaneous databases

GenomeRNAii266727.
PROiQ8NFP4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112139.
CleanExiHS_MDGA1.
ExpressionAtlasiQ8NFP4. baseline and differential.
GenevisibleiQ8NFP4. HS.

Family and domain databases

CDDicd06263. MAM. 1 hit.
Gene3Di2.60.40.10. 7 hits.
InterProiIPR013320. ConA-like_dom.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR000998. MAM_dom.
[Graphical view]
PfamiPF00629. MAM. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 6 hits.
SM00408. IGc2. 6 hits.
SM00137. MAM. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 6 hits.
SSF49265. SSF49265. 2 hits.
SSF49899. SSF49899. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 6 hits.
PS50060. MAM_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMDGA1_HUMAN
AccessioniPrimary (citable) accession number: Q8NFP4
Secondary accession number(s): A6NHG0, Q8NBE3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: October 1, 2002
Last modified: September 7, 2016
This is version 121 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

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. 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.