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Entry version 147 (16 Oct 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Mannose-1-phosphate guanyltransferase alpha

Gene

GMPPA

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

May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.1 Publication

Caution

GMPPA is a close homolog of GMPPB, that has been shown to catalyze the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids. However, lymphocytes from AAMR patients, that exhibit very low GMPPA protein levels, have unchanged GDP-mannose pyrophosphorylase activity and higher GDP-mannose levels than those from healthy controls. Affected individuals and control subjects show similar N-glycosylation profiles, both for transferrin glycosylation and for N-glycans derived from either total serum protein or immunoglobulin G. These observations led to the hypothesis that GMPPA might serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose. Alignment of GMPPAs and GMPPBs from various species shows that GMPPAs are characterized by a 2 amino acid-insertion (residues 11-12) in a highly conserved motif that borders the catalytic pocket and binds the nucleotide substrate in homologous enzymes. This insertion might inactivate the ancestral catalytic site, converting it to an allosteric site (PubMed:24035193).1 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 - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-446205 Synthesis of GDP-mannose

<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:
Mannose-1-phosphate guanyltransferase alpha
Alternative name(s):
GDP-mannose pyrophosphorylase A
Short name:
GMPP-alpha
GTP-mannose-1-phosphate guanylyltransferase alpha
<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:GMPPA
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:22923 GMPPA

Online Mendelian Inheritance in Man (OMIM)

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MIMi
615495 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96IJ6

<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

<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>Keywords - Cellular componenti

Cytoplasm

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Alacrima, achalasia, and mental retardation syndrome (AAMR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency.
Related information in OMIM
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_070203182G → D in AAMR; drastically reduced protein expression. 1 PublicationCorresponds to variant dbSNP:rs397518462EnsemblClinVar.1
Natural variantiVAR_070204334T → M in AAMR. 1 PublicationCorresponds to variant dbSNP:rs774778439Ensembl.1
Natural variantiVAR_070205334T → P in AAMR; drastically reduced protein expression. 1 PublicationCorresponds to variant dbSNP:rs397518461EnsemblClinVar.1
Natural variantiVAR_070206390R → P in AAMR; drastically reduced protein expression. 1 PublicationCorresponds to variant dbSNP:rs1467274040Ensembl.1
Natural variantiVAR_070207401N → T in AAMR; drastically reduced protein expression. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

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DisGeNETi
29926

MalaCards human disease database

More...
MalaCardsi
GMPPA
MIMi615510 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000144591

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
869 Triple A syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134925506

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96IJ6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GMPPA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74732065

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003278721 – 420Mannose-1-phosphate guanyltransferase alphaAdd BLAST420

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96IJ6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96IJ6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96IJ6

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96IJ6

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

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PaxDbi
Q96IJ6

PeptideAtlas

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PeptideAtlasi
Q96IJ6

PRoteomics IDEntifications database

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PRIDEi
Q96IJ6

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
76833 [Q96IJ6-1]
76834 [Q96IJ6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96IJ6

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

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PhosphoSitePlusi
Q96IJ6

<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

Expressed in fibroblasts (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000144591 Expressed in 200 organ(s), highest expression level in right lobe of liver

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96IJ6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96IJ6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035512
HPA035513

<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

Associates with GMPPB.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
118967, 19 interactors

Protein interaction database and analysis system

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IntActi
Q96IJ6, 13 interactors

Molecular INTeraction database

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MINTi
Q96IJ6

STRING: functional protein association networks

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STRINGi
9606.ENSP00000350949

<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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1460 Eukaryota
COG1208 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157018

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96IJ6

KEGG Orthology (KO)

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KOi
K00966

Identification of Orthologs from Complete Genome Data

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OMAi
ANRHYLA

Database of Orthologous Groups

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OrthoDBi
806744at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96IJ6

TreeFam database of animal gene trees

More...
TreeFami
TF300832

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.90.550.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001451 Hexapep
IPR018357 Hexapep_transf_CS
IPR005835 NTP_transferase_dom
IPR029044 Nucleotide-diphossugar_trans

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00132 Hexapep, 1 hit
PF00483 NTP_transferase, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53448 SSF53448, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00101 HEXAPEP_TRANSFERASES, 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.

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: Q96IJ6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MLKAVILIGG PQKGTRFRPL SFEVPKPLFP VAGVPMIQHH IEACAQVPGM
60 70 80 90 100
QEILLIGFYQ PDEPLTQFLE AAQQEFNLPV RYLQEFAPLG TGGGLYHFRD
110 120 130 140 150
QILAGSPEAF FVLNADVCSD FPLSAMLEAH RRQRHPFLLL GTTANRTQSL
160 170 180 190 200
NYGCIVENPQ THEVLHYVEK PSTFISDIIN CGIYLFSPEA LKPLRDVFQR
210 220 230 240 250
NQQDGQLEDS PGLWPGAGTI RLEQDVFSAL AGQGQIYVHL TDGIWSQIKS
260 270 280 290 300
AGSALYASRL YLSRYQDTHP ERLAKHTPGG PWIRGNVYIH PTAKVAPSAV
310 320 330 340 350
LGPNVSIGKG VTVGEGVRLR ESIVLHGATL QEHTCVLHSI VGWGSTVGRW
360 370 380 390 400
ARVEGTPSDP NPNDPRARMD SESLFKDGKL LPAITILGCR VRIPAEVLIL
410 420
NSIVLPHKEL SRSFTNQIIL
Length:420
Mass (Da):46,291
Last modified:December 1, 2001 - 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:i741B77ABA198D4BC
GO
Isoform 2 (identifier: Q96IJ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     285-285: G → GTQPAPIPNLWLPPQPSEPGFLTSSPELKPQSLPLPDQIRFGIFAPRASLLLLG

Show »
Length:473
Mass (Da):52,018
Checksum:i0F283DF3FEA4C6E9
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
C9JAH0C9JAH0_HUMAN
Mannose-1-phosphate guanyltransfera...
GMPPA
249Annotation 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>
C9J255C9J255_HUMAN
Mannose-1-phosphate guanyltransfera...
GMPPA
179Annotation 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>
F8WD54F8WD54_HUMAN
Mannose-1-phosphate guanyltransfera...
GMPPA
290Annotation 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>
A0A087WUI8A0A087WUI8_HUMAN
Mannose-1-phosphate guanyltransfera...
GMPPA
399Annotation 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>
A0A0U1RRC2A0A0U1RRC2_HUMAN
Mannose-1-phosphate guanyltransfera...
GMPPA
114Annotation 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 AAD38517 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti57G → C in BAD96671 (Ref. 3) Curated1
Sequence conflicti67Q → H in BAF83360 (PubMed:14702039).Curated1
Sequence conflicti118C → Y in BAA91460 (PubMed:14702039).Curated1
Sequence conflicti339S → C in AAD38517 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04243421S → F. Corresponds to variant dbSNP:rs34218609Ensembl.1
Natural variantiVAR_042435156V → A. Corresponds to variant dbSNP:rs13396066Ensembl.1
Natural variantiVAR_070203182G → D in AAMR; drastically reduced protein expression. 1 PublicationCorresponds to variant dbSNP:rs397518462EnsemblClinVar.1
Natural variantiVAR_070204334T → M in AAMR. 1 PublicationCorresponds to variant dbSNP:rs774778439Ensembl.1
Natural variantiVAR_070205334T → P in AAMR; drastically reduced protein expression. 1 PublicationCorresponds to variant dbSNP:rs397518461EnsemblClinVar.1
Natural variantiVAR_070206390R → P in AAMR; drastically reduced protein expression. 1 PublicationCorresponds to variant dbSNP:rs1467274040Ensembl.1
Natural variantiVAR_070207401N → T in AAMR; drastically reduced protein expression. 1 Publication1

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_032741285G → GTQPAPIPNLWLPPQPSEPG FLTSSPELKPQSLPLPDQIR FGIFAPRASLLLLG in isoform 2. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF135422 mRNA Translation: AAD38517.1 Frameshift.
AK000999 mRNA Translation: BAA91460.1
AK022578 mRNA Translation: BAG51096.1
AK290671 mRNA Translation: BAF83360.1
AK222951 mRNA Translation: BAD96671.1
AC053503 Genomic DNA Translation: AAY15053.1
CH471063 Genomic DNA Translation: EAW70755.1
CH471063 Genomic DNA Translation: EAW70759.1
BC007456 mRNA Translation: AAH07456.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2441.1 [Q96IJ6-1]

NCBI Reference Sequences

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RefSeqi
NP_037467.2, NM_013335.3 [Q96IJ6-1]
NP_995319.1, NM_205847.2 [Q96IJ6-1]
XP_005246543.1, XM_005246486.3 [Q96IJ6-1]
XP_016859398.1, XM_017003909.1
XP_016859399.1, XM_017003910.1
XP_016859400.1, XM_017003911.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000313597; ENSP00000315925; ENSG00000144591 [Q96IJ6-1]
ENST00000341142; ENSP00000340760; ENSG00000144591 [Q96IJ6-1]
ENST00000358215; ENSP00000350949; ENSG00000144591 [Q96IJ6-1]
ENST00000373908; ENSP00000363016; ENSG00000144591 [Q96IJ6-1]
ENST00000373917; ENSP00000363027; ENSG00000144591 [Q96IJ6-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
29926

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:29926

UCSC genome browser

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UCSCi
uc002vlr.4 human [Q96IJ6-1]

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
AF135422 mRNA Translation: AAD38517.1 Frameshift.
AK000999 mRNA Translation: BAA91460.1
AK022578 mRNA Translation: BAG51096.1
AK290671 mRNA Translation: BAF83360.1
AK222951 mRNA Translation: BAD96671.1
AC053503 Genomic DNA Translation: AAY15053.1
CH471063 Genomic DNA Translation: EAW70755.1
CH471063 Genomic DNA Translation: EAW70759.1
BC007456 mRNA Translation: AAH07456.1
CCDSiCCDS2441.1 [Q96IJ6-1]
RefSeqiNP_037467.2, NM_013335.3 [Q96IJ6-1]
NP_995319.1, NM_205847.2 [Q96IJ6-1]
XP_005246543.1, XM_005246486.3 [Q96IJ6-1]
XP_016859398.1, XM_017003909.1
XP_016859399.1, XM_017003910.1
XP_016859400.1, XM_017003911.1

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi118967, 19 interactors
IntActiQ96IJ6, 13 interactors
MINTiQ96IJ6
STRINGi9606.ENSP00000350949

PTM databases

iPTMnetiQ96IJ6
PhosphoSitePlusiQ96IJ6

Polymorphism and mutation databases

BioMutaiGMPPA
DMDMi74732065

Proteomic databases

EPDiQ96IJ6
jPOSTiQ96IJ6
MassIVEiQ96IJ6
MaxQBiQ96IJ6
PaxDbiQ96IJ6
PeptideAtlasiQ96IJ6
PRIDEiQ96IJ6
ProteomicsDBi76833 [Q96IJ6-1]
76834 [Q96IJ6-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
29926

Genome annotation databases

EnsembliENST00000313597; ENSP00000315925; ENSG00000144591 [Q96IJ6-1]
ENST00000341142; ENSP00000340760; ENSG00000144591 [Q96IJ6-1]
ENST00000358215; ENSP00000350949; ENSG00000144591 [Q96IJ6-1]
ENST00000373908; ENSP00000363016; ENSG00000144591 [Q96IJ6-1]
ENST00000373917; ENSP00000363027; ENSG00000144591 [Q96IJ6-2]
GeneIDi29926
KEGGihsa:29926
UCSCiuc002vlr.4 human [Q96IJ6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
29926
DisGeNETi29926

GeneCards: human genes, protein and diseases

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GeneCardsi
GMPPA
HGNCiHGNC:22923 GMPPA
HPAiHPA035512
HPA035513
MalaCardsiGMPPA
MIMi615495 gene
615510 phenotype
neXtProtiNX_Q96IJ6
OpenTargetsiENSG00000144591
Orphaneti869 Triple A syndrome
PharmGKBiPA134925506

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1460 Eukaryota
COG1208 LUCA
GeneTreeiENSGT00940000157018
InParanoidiQ96IJ6
KOiK00966
OMAiANRHYLA
OrthoDBi806744at2759
PhylomeDBiQ96IJ6
TreeFamiTF300832

Enzyme and pathway databases

ReactomeiR-HSA-446205 Synthesis of GDP-mannose

Miscellaneous databases

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

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ChiTaRSi
GMPPA human

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

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GenomeRNAii
29926
PharosiQ96IJ6

Protein Ontology

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PROi
PR:Q96IJ6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000144591 Expressed in 200 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiQ96IJ6 baseline and differential
GenevisibleiQ96IJ6 HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR001451 Hexapep
IPR018357 Hexapep_transf_CS
IPR005835 NTP_transferase_dom
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF00132 Hexapep, 1 hit
PF00483 NTP_transferase, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
PROSITEiView protein in PROSITE
PS00101 HEXAPEP_TRANSFERASES, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiGMPPA_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: Q96IJ6
Secondary accession number(s): A6NJ74
, A8K3Q6, B3KMT4, Q53GI0, Q9NWC3, Q9Y5P5
<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 8, 2008
Last sequence update: December 1, 2001
Last modified: October 16, 2019
This is version 147 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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