Seroatlas · Human Serome Atlas

MDGA1

MAM domain-containing glycosylphosphatidylinositol anchor protein 1

Also known as: GPIM, MAMDC3, MDGA1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8NFP4
Gene: MDGA1
Ensembl: ENSG00000112139
Chromosome: 6
Canonical length: 955 aa
Protein class: Predicted intracellular proteins
Subcellular location: Golgi apparatus,Plasma membrane
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]

Canonical amino-acid sequenceUniProt

955 residues, UniProt reviewed canonical sequence.

>Q8NFP4|MDGA1
     1  MEVTCLLLLA LIPFHCRGQG VYAPAQAQIV HAGQACVVKE DNISERVYTI REGDTLMLQC
    61  LVTGHPRPQV RWTKTAGSAS DKFQETSVFN ETLRIERIAR TQGGRYYCKA ENGVGVPAIK
   121  SIRVDVQYLD EPMLTVHQTV SDVRGNFYQE KTVFLRCTVN SNPPARFIWK RGSDTLSHSQ
   181  DNGVDIYEPL YTQGETKVLK LKNLRPQDYA SYTCQVSVRN VCGIPDKAIT FRLTNTTAPP
   241  ALKLSVNETL VVNPGENVTV QCLLTGGDPL PQLQWSHGPG PLPLGALAQG GTLSIPSVQA
   301  RDSGYYNCTA TNNVGNPAKK TVNLLVRSMK NATFQITPDV IKESENIQLG QDLKLSCHVD
   361  AVPQEKVTYQ WFKNGKPARM SKRLLVTRND PELPAVTSSL ELIDLHFSDY GTYLCMASFP
   421  GAPVPDLSVE VNISSETVPP TISVPKGRAV VTVREGSPAE LQCEVRGKPR PPVLWSRVDK
   481  EAALLPSGLP LEETPDGKLR LERVSRDMSG TYRCQTARYN GFNVRPREAQ VQLNVQFPPE
   541  VEPSSQDVRQ ALGRPVLLRC SLLRGSPQRI ASAVWRFKGQ LLPPPPVVPA AAEAPDHAEL
   601  RLDAVTRDSS GSYECSVSND VGSAACLFQV SAKAYSPEFY FDTPNPTRSH KLSKNYSYVL
   661  QWTQREPDAV DPVLNYRLSI RQLNQHNAVV KAIPVRRVEK GQLLEYILTD LRVPHSYEVR
   721  LTPYTTFGAG DMASRIIHYT EPINSPNLSD NTCHFEDEKI CGYTQDLTDN FDWTRQNALT
   781  QNPKRSPNTG PPTDISGTPE GYYMFIETSR PRELGDRARL VSPLYNASAK FYCVSFFYHM
   841  YGKHIGSLNL LVRSRNKGAL DTHAWSLSGN KGNVWQQAHV PISPSGPFQI IFEGVRGPGY
   901  LGDIAIDDVT LKKGECPRKQ TDPNKVVVMP GSGAPCQSSP QLWGPMAIFL LALQR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MDGA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 81 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 81 nTPM
skin: 4.6 nTPM
spinal cord: 4.6 nTPM
blood vessel: 4.2 nTPM
ovary: 4.1 nTPM
cerebral cortex: 4 nTPM

Single-cell type

retinal horizontal cells: 66 nCPM
cone photoreceptor cells: 60 nCPM
retinal bipolar cells: 59 nCPM
adrenal medulla cells: 53 nCPM
brain excitatory neurons: 51 nCPM
retinal amacrine cells: 48 nCPM

Immune cell

naive CD4 T-cell: 0.6 nTPM
gdT-cell: 0.3 nTPM
T-reg: 0.3 nTPM
memory B-cell: 0.2 nTPM
memory CD4 T-cell: 0.2 nTPM
naive B-cell: 0.2 nTPM

Brain region

cerebellum: 175 nTPM
hippocampal formation: 25 nTPM
pons: 23 nTPM
cerebral cortex: 20 nTPM
hypothalamus: 17 nTPM
midbrain: 17 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.31
gnomAD pLI: 0.98
gnomAD missense Z: 2.57
DepMap mean gene effect: -0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MDGA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

NLGN2

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MDGA1 as an antibody target. Whether an autoantibody or antibody against MDGA1 could matter depends on whether native MDGA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MDGA1 is annotated at the cell surface, where native MDGA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MDGA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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