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Entry version 150 (16 Oct 2019)
Sequence version 2 (30 Aug 2005)
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Protein

Alpha-1,2-mannosyltransferase ALG9

Gene

ALG9

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

Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.2 Publications
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

<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

<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 functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.4.1.259 2681
2.4.1.261 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4720454 Defective ALG9 causes ALG9-CDG (CDG-1l)

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT22 Glycosyltransferase Family 22

<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:
Alpha-1,2-mannosyltransferase ALG9Curated (EC:2.4.1.2592 Publications, EC:2.4.1.2612 Publications)
Alternative name(s):
Asparagine-linked glycosylation protein 9 homologImported
Disrupted in bipolar disorder protein 11 Publication
Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferaseCurated
Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferaseCurated
<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:ALG9Imported
Synonyms:DIBD11 Publication
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15672 ALG9

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606941 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H6U8

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 135LumenalSequence analysisAdd BLAST135
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Topological domaini157 – 171CytoplasmicSequence analysisAdd BLAST15
Transmembranei172 – 192HelicalSequence analysisAdd BLAST21
Topological domaini193 – 213LumenalSequence analysisAdd BLAST21
Transmembranei214 – 234HelicalSequence analysisAdd BLAST21
Topological domaini235 – 249CytoplasmicSequence analysisAdd BLAST15
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21
Topological domaini271 – 304LumenalSequence analysisAdd BLAST34
Transmembranei305 – 325HelicalSequence analysisAdd BLAST21
Topological domaini326 – 342CytoplasmicSequence analysisAdd BLAST17
Transmembranei343 – 363HelicalSequence analysisAdd BLAST21
Topological domaini364 – 370LumenalSequence analysis7
Transmembranei371 – 391HelicalSequence analysisAdd BLAST21
Topological domaini392 – 405CytoplasmicSequence analysisAdd BLAST14
Transmembranei406 – 426HelicalSequence analysisAdd BLAST21
Topological domaini427 – 611LumenalSequence analysisAdd BLAST185

Keywords - Cellular componenti

Endoplasmic reticulum, 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

<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

A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder.1 Publication
Congenital disorder of glycosylation 1L (CDG1L)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
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_023410287Y → C in CDG1L; impairs activity. 1 PublicationCorresponds to variant dbSNP:rs121908023EnsemblClinVar.1
Natural variantiVAR_023413523E → K in CDG1L; impairs activity. 1 PublicationCorresponds to variant dbSNP:rs121908022Ensembl.1
Gillessen-Kaesbach-Nishimura syndrome (GIKANIS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine.
Related information in OMIM

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei340Breakpoint for translocation1 Publication1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
79796

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ALG9

MalaCards human disease database

More...
MalaCardsi
ALG9
MIMi263210 phenotype
608776 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000086848

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

More...
Orphaneti
79328 ALG9-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134887582

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H6U8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALG9

Domain mapping of disease mutations (DMDM)

More...
DMDMi
73921666

<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_00002157871 – 611Alpha-1,2-mannosyltransferase ALG9Add BLAST611

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>Glycosylationi77N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi593N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H6U8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H6U8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H6U8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H6U8

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

More...
PaxDbi
Q9H6U8

PeptideAtlas

More...
PeptideAtlasi
Q9H6U8

PRoteomics IDEntifications database

More...
PRIDEi
Q9H6U8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81040 [Q9H6U8-1]
81041 [Q9H6U8-2]
81042 [Q9H6U8-3]
81043 [Q9H6U8-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H6U8

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

More...
PhosphoSitePlusi
Q9H6U8

<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

Ubiquitously expressed; with highest levels in heart, liver and pancreas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000086848 Expressed in 184 organ(s), highest expression level in small intestine Peyer's patch

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H6U8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H6U8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038575

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122893, 40 interactors

Protein interaction database and analysis system

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IntActi
Q9H6U8, 32 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000482396

<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

Belongs to the glycosyltransferase 22 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2515 Eukaryota
ENOG410XP6D LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183090

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H6U8

KEGG Orthology (KO)

More...
KOi
K03846

Database of Orthologous Groups

More...
OrthoDBi
1396421at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H6U8

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039484 ALG9-like
IPR005599 GPI_mannosylTrfase

The PANTHER Classification System

More...
PANTHERi
PTHR22760 PTHR22760, 1 hit
PTHR22760:SF2 PTHR22760:SF2, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03901 Glyco_transf_22, 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 (4+)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 4 <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 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H6U8-1) [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
MASRGARQRL KGSGASSGDT APAADKLREL LGSREAGGAE HRTELSGNKA
60 70 80 90 100
GQVWAPEGST AFKCLLSARL CAALLSNISD CDETFNYWEP THYLIYGEGF
110 120 130 140 150
QTWEYSPAYA IRSYAYLLLH AWPAAFHARI LQTNKILVFY FLRCLLAFVS
160 170 180 190 200
CICELYFYKA VCKKFGLHVS RMMLAFLVLS TGMFCSSSAF LPSSFCMYTT
210 220 230 240 250
LIAMTGWYMD KTSIAVLGVA AGAILGWPFS AALGLPIAFD LLVMKHRWKS
260 270 280 290 300
FFHWSLMALI LFLVPVVVID SYYYGKLVIA PLNIVLYNVF TPHGPDLYGT
310 320 330 340 350
EPWYFYLING FLNFNVAFAL ALLVLPLTSL MEYLLQRFHV QNLGHPYWLT
360 370 380 390 400
LAPMYIWFII FFIQPHKEER FLFPVYPLIC LCGAVALSAL QKCYHFVFQR
410 420 430 440 450
YRLEHYTVTS NWLALGTVFL FGLLSFSRSV ALFRGYHGPL DLYPEFYRIA
460 470 480 490 500
TDPTIHTVPE GRPVNVCVGK EWYRFPSSFL LPDNWQLQFI PSEFRGQLPK
510 520 530 540 550
PFAEGPLATR IVPTDMNDQN LEEPSRYIDI SKCHYLVDLD TMRETPREPK
560 570 580 590 600
YSSNKEEWIS LAYRPFLDAS RSSKLLRAFY VPFLSDQYTV YVNYTILKPR
610
KAKQIRKKSG G
Length:611
Mass (Da):69,863
Last modified:August 30, 2005 - v2
<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:i51EC72DDBD866713
GO
Isoform 2 (identifier: Q9H6U8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.

Show »
Length:440
Mass (Da):50,820
Checksum:i42D3547330EA5EBB
GO
Isoform 3 (identifier: Q9H6U8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     391-391: Q → QHSFLYFQ

Show »
Length:618
Mass (Da):70,786
Checksum:i05790C3513BF8A4D
GO
Isoform 4 (identifier: Q9H6U8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.
     391-391: Q → QHSFLYFQ

Note: No experimental confirmation available.
Show »
Length:447
Mass (Da):51,743
Checksum:i21DA4AC7B2DE59DE
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZY8A0A087WZY8_HUMAN
Mannosyltransferase
ALG9
198Annotation score:

Annotation score:2 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>
H0YCW6H0YCW6_HUMAN
Mannosyltransferase
ALG9
207Annotation score:

Annotation score:2 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>
A0A087WTZ3A0A087WTZ3_HUMAN
Mannosyltransferase
ALG9
134Annotation score:

Annotation score:2 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>
A0A087WVC0A0A087WVC0_HUMAN
Mannosyltransferase
ALG9
168Annotation score:

Annotation score:2 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>
A0A087WX16A0A087WX16_HUMAN
Alpha-1,2-mannosyltransferase ALG9
ALG9
102Annotation 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>
H0YEX8H0YEX8_HUMAN
Alpha-1,2-mannosyltransferase ALG9
ALG9
35Annotation 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>
H0YF48H0YF48_HUMAN
Alpha-1,2-mannosyltransferase ALG9
ALG9
24Annotation 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>

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 conflicti309N → K (PubMed:12030331).Curated1
Sequence conflicti309N → K (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049221232A → P. Corresponds to variant dbSNP:rs36111204EnsemblClinVar.1
Natural variantiVAR_049222255S → L. Corresponds to variant dbSNP:rs17113312Ensembl.1
Natural variantiVAR_023410287Y → C in CDG1L; impairs activity. 1 PublicationCorresponds to variant dbSNP:rs121908023EnsemblClinVar.1
Natural variantiVAR_023411289V → I3 PublicationsCorresponds to variant dbSNP:rs10502151EnsemblClinVar.1
Natural variantiVAR_023412506P → L1 PublicationCorresponds to variant dbSNP:rs185149177Ensembl.1
Natural variantiVAR_023413523E → K in CDG1L; impairs activity. 1 PublicationCorresponds to variant dbSNP:rs121908022Ensembl.1
Natural variantiVAR_049223528I → S. Corresponds to variant dbSNP:rs12575909Ensembl.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_0154341 – 171Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST171
Alternative sequenceiVSP_015435391Q → QHSFLYFQ in isoform 3 and isoform 4. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF395532 mRNA Translation: AAL25798.1
AF454937 mRNA Translation: AAP97696.1
AL136927 mRNA Translation: CAB66861.1
AK025498 mRNA Translation: BAB15154.1
AK172828 mRNA Translation: BAD18793.1
BC009255 mRNA Translation: AAH09255.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS41714.1 [Q9H6U8-4]
CCDS53709.1 [Q9H6U8-2]
CCDS73379.1 [Q9H6U8-1]
CCDS73380.1 [Q9H6U8-3]

NCBI Reference Sequences

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RefSeqi
NP_001071158.1, NM_001077690.1 [Q9H6U8-1]
NP_001071159.1, NM_001077691.1 [Q9H6U8-4]
NP_001071160.1, NM_001077692.1 [Q9H6U8-2]
NP_079016.2, NM_024740.2 [Q9H6U8-3]
XP_016873808.1, XM_017018319.1
XP_016873809.1, XM_017018320.1
XP_016873810.1, XM_017018321.1
XP_016873811.1, XM_017018322.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000398006; ENSP00000381090; ENSG00000086848 [Q9H6U8-2]
ENST00000531154; ENSP00000435517; ENSG00000086848 [Q9H6U8-4]
ENST00000614444; ENSP00000484200; ENSG00000086848 [Q9H6U8-1]
ENST00000616540; ENSP00000482437; ENSG00000086848 [Q9H6U8-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79796

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79796

UCSC genome browser

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UCSCi
uc001ply.4 human [Q9H6U8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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
AF395532 mRNA Translation: AAL25798.1
AF454937 mRNA Translation: AAP97696.1
AL136927 mRNA Translation: CAB66861.1
AK025498 mRNA Translation: BAB15154.1
AK172828 mRNA Translation: BAD18793.1
BC009255 mRNA Translation: AAH09255.1
CCDSiCCDS41714.1 [Q9H6U8-4]
CCDS53709.1 [Q9H6U8-2]
CCDS73379.1 [Q9H6U8-1]
CCDS73380.1 [Q9H6U8-3]
RefSeqiNP_001071158.1, NM_001077690.1 [Q9H6U8-1]
NP_001071159.1, NM_001077691.1 [Q9H6U8-4]
NP_001071160.1, NM_001077692.1 [Q9H6U8-2]
NP_079016.2, NM_024740.2 [Q9H6U8-3]
XP_016873808.1, XM_017018319.1
XP_016873809.1, XM_017018320.1
XP_016873810.1, XM_017018321.1
XP_016873811.1, XM_017018322.1

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi122893, 40 interactors
IntActiQ9H6U8, 32 interactors
STRINGi9606.ENSP00000482396

Protein family/group databases

CAZyiGT22 Glycosyltransferase Family 22

PTM databases

iPTMnetiQ9H6U8
PhosphoSitePlusiQ9H6U8

Polymorphism and mutation databases

BioMutaiALG9
DMDMi73921666

Proteomic databases

EPDiQ9H6U8
jPOSTiQ9H6U8
MassIVEiQ9H6U8
MaxQBiQ9H6U8
PaxDbiQ9H6U8
PeptideAtlasiQ9H6U8
PRIDEiQ9H6U8
ProteomicsDBi81040 [Q9H6U8-1]
81041 [Q9H6U8-2]
81042 [Q9H6U8-3]
81043 [Q9H6U8-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
79796

Genome annotation databases

EnsembliENST00000398006; ENSP00000381090; ENSG00000086848 [Q9H6U8-2]
ENST00000531154; ENSP00000435517; ENSG00000086848 [Q9H6U8-4]
ENST00000614444; ENSP00000484200; ENSG00000086848 [Q9H6U8-1]
ENST00000616540; ENSP00000482437; ENSG00000086848 [Q9H6U8-3]
GeneIDi79796
KEGGihsa:79796
UCSCiuc001ply.4 human [Q9H6U8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79796
DisGeNETi79796

GeneCards: human genes, protein and diseases

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GeneCardsi
ALG9
GeneReviewsiALG9
HGNCiHGNC:15672 ALG9
HPAiHPA038575
MalaCardsiALG9
MIMi263210 phenotype
606941 gene
608776 phenotype
neXtProtiNX_Q9H6U8
OpenTargetsiENSG00000086848
Orphaneti79328 ALG9-CDG
PharmGKBiPA134887582

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2515 Eukaryota
ENOG410XP6D LUCA
GeneTreeiENSGT00950000183090
InParanoidiQ9H6U8
KOiK03846
OrthoDBi1396421at2759
PhylomeDBiQ9H6U8

Enzyme and pathway databases

UniPathwayiUPA00378
BRENDAi2.4.1.259 2681
2.4.1.261 2681
ReactomeiR-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4720454 Defective ALG9 causes ALG9-CDG (CDG-1l)

Miscellaneous databases

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

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ChiTaRSi
ALG9 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ALG9

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

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GenomeRNAii
79796
PharosiQ9H6U8

Protein Ontology

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PROi
PR:Q9H6U8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000086848 Expressed in 184 organ(s), highest expression level in small intestine Peyer's patch
ExpressionAtlasiQ9H6U8 baseline and differential
GenevisibleiQ9H6U8 HS

Family and domain databases

InterProiView protein in InterPro
IPR039484 ALG9-like
IPR005599 GPI_mannosylTrfase
PANTHERiPTHR22760 PTHR22760, 1 hit
PTHR22760:SF2 PTHR22760:SF2, 1 hit
PfamiView protein in Pfam
PF03901 Glyco_transf_22, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiALG9_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: Q9H6U8
Secondary accession number(s): Q6ZMD5
, Q7Z4R4, Q96GS7, Q96PB9, Q9H068
<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: August 30, 2005
Last sequence update: August 30, 2005
Last modified: October 16, 2019
This is version 150 of the entry and version 2 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 11
    Human chromosome 11: 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. SIMILARITY comments
    Index of protein domains and families
  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
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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