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Entry version 142 (08 May 2019)
Sequence version 1 (01 Oct 2002)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MDGA1
Synonyms:MAMDC3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19267 MDGA1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609626 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NFP4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
266727

Open Targets

More...
OpenTargetsi
ENSG00000112139

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134864540

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MDGA1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
46396459

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 18Sequence analysisAdd BLAST18
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001486419 – 932MAM domain-containing glycosylphosphatidylinositol anchor protein 1Add BLAST914
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000292042933 – 955Removed in mature formAdd BLAST23

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi42N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi932GPI-anchor amidated serineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NFP4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8NFP4

PeptideAtlas

More...
PeptideAtlasi
Q8NFP4

PRoteomics IDEntifications database

More...
PRIDEi
Q8NFP4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73330
73331 [Q8NFP4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NFP4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8NFP4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000112139 Expressed in 188 organ(s), highest expression level in cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NFP4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NFP4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA031235
HPA050382

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
129333, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000402584

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1955
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8NFP4

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IF9B Eukaryota
ENOG410XPYU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159201

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NFP4

Identification of Orthologs from Complete Genome Data

More...
OMAi
QWTQKEP

Database of Orthologous Groups

More...
OrthoDBi
118847at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NFP4

TreeFam database of animal gene trees

More...
TreeFami
TF330345

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00063 FN3, 1 hit
cd06263 MAM, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 7 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00629 MAM, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00409 IG, 6 hits
SM00408 IGc2, 6 hits
SM00137 MAM, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 1 hit
SSF49899 SSF49899, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50853 FN3, 1 hit
PS50835 IG_LIKE, 6 hits
PS50060 MAM_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IU48A0A3B3IU48_HUMAN
MAM domain-containing glycosylphosp...
MDGA1
973Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y4Q2H0Y4Q2_HUMAN
MAM domain-containing glycosylphosp...
MDGA1
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RFG6D6RFG6_HUMAN
MAM domain-containing glycosylphosp...
MDGA1
129Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RHU8D6RHU8_HUMAN
MAM domain-containing glycosylphosp...
MDGA1
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YA23H0YA23_HUMAN
MAM domain-containing glycosylphosp...
MDGA1
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_009835926 – 955VVVMP…LALQR → GARREGGGGAESGGSCAWRG FLSVEGGCLGLNRGSECLSD GNHVALTV in isoform 2. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS47417.1 [Q8NFP4-1]

NCBI Reference Sequences

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RefSeqi
NP_705691.1, NM_153487.3 [Q8NFP4-1]
XP_006715119.1, XM_006715056.3 [Q8NFP4-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000434837; ENSP00000402584; ENSG00000112139 [Q8NFP4-1]
ENST00000505425; ENSP00000422042; ENSG00000112139 [Q8NFP4-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
266727

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:266727

UCSC genome browser

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UCSCi
uc003onu.2 human [Q8NFP4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5V5VX-ray4.11G/H/I/J/K/L22-237[»]
5V5WX-ray2.72A22-237[»]
5XEQX-ray3.14B19-330[»]
SMRiQ8NFP4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129333, 1 interactor
STRINGi9606.ENSP00000402584

PTM databases

iPTMnetiQ8NFP4
PhosphoSitePlusiQ8NFP4

Polymorphism and mutation databases

BioMutaiMDGA1
DMDMi46396459

Proteomic databases

EPDiQ8NFP4
PaxDbiQ8NFP4
PeptideAtlasiQ8NFP4
PRIDEiQ8NFP4
ProteomicsDBi73330
73331 [Q8NFP4-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
266727
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

Comparative Toxicogenomics Database

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CTDi
266727
DisGeNETi266727

GeneCards: human genes, protein and diseases

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GeneCardsi
MDGA1
HGNCiHGNC:19267 MDGA1
HPAiHPA031235
HPA050382
MIMi609626 gene
neXtProtiNX_Q8NFP4
OpenTargetsiENSG00000112139
PharmGKBiPA134864540

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF9B Eukaryota
ENOG410XPYU LUCA
GeneTreeiENSGT00940000159201
InParanoidiQ8NFP4
OMAiQWTQKEP
OrthoDBi118847at2759
PhylomeDBiQ8NFP4
TreeFamiTF330345

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MDGA1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
266727

Protein Ontology

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PROi
PR:Q8NFP4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000112139 Expressed in 188 organ(s), highest expression level in cerebellum
ExpressionAtlasiQ8NFP4 baseline and differential
GenevisibleiQ8NFP4 HS

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, 1 hit
SSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS50835 IG_LIKE, 6 hits
PS50060 MAM_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMDGA1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NFP4
Secondary accession number(s): A6NHG0, Q8NBE3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: October 1, 2002
Last modified: May 8, 2019
This is version 142 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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