Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q9BV10 (ALG12_HUMAN)

Entry version 167 (02 Dec 2020)
Sequence version 1 (01 Jun 2001)
Previous versions | rss
Add a publicationFeedback
Protein

Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase

Gene

ALG12

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

Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man7GlcNAc2) required for protein glycosylation.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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%5Fsection">'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.
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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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		2.4.1.260, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BV10

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-4720489, Defective ALG12 causes ALG12-CDG (CDG-1g)

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%5Fand%5Ftaxonomy%5Fsection">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:
Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (EC:2.4.1.260)
Alternative name(s):
Asparagine-linked glycosylation protein 12 homolog
Short name:
hALG12
Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase
Mannosyltransferase ALG12 homolog
Membrane protein SB87
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ALG12
ORF Names:PP14673
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 22

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000182858.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:19358, ALG12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607144, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BV10

<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%5Flocation%5Fsection">'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>Transmembranei11 – 31HelicalSequence analysisAdd BLAST21
Transmembranei68 – 88HelicalSequence analysisAdd BLAST21
Transmembranei93 – 113HelicalSequence analysisAdd BLAST21
Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Transmembranei145 – 165HelicalSequence analysisAdd BLAST21
Transmembranei177 – 197HelicalSequence analysisAdd BLAST21
Transmembranei212 – 232HelicalSequence analysisAdd BLAST21
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Transmembranei290 – 310HelicalSequence analysisAdd BLAST21
Transmembranei312 – 332HelicalSequence analysisAdd BLAST21
Transmembranei346 – 366HelicalSequence analysisAdd BLAST21
Transmembranei423 – 443HelicalSequence analysisAdd BLAST21

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

Congenital disorder of glycosylation 1G (CDG1G)5 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_01790467T → M in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907931EnsemblClinVar.1
Natural variantiVAR_038428101G → R in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907933EnsemblClinVar.1
Natural variantiVAR_017905142F → V in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs28942090EnsemblClinVar.1
Natural variantiVAR_017906146R → Q in CDG1G. 2 PublicationsCorresponds to variant dbSNP:rs121907932EnsemblClinVar.1
Natural variantiVAR_017907158L → P in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907934EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		79087

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

More...GeneReviewsi		ALG12

MalaCards human disease database

More...MalaCardsi		ALG12
MIMi607143, phenotype

Open Targets

More...OpenTargetsi		ENSG00000182858

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

More...Orphaneti		79324, ALG12-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134987771

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BV10, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ALG12

Domain mapping of disease mutations (DMDM)

More...DMDMi		45476971

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002157811 – 488Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferaseAdd BLAST488

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BV10

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BV10

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BV10

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BV10

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

More...PaxDbi		Q9BV10

PeptideAtlas

More...PeptideAtlasi		Q9BV10

PRoteomics IDEntifications database

More...PRIDEi		Q9BV10

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79150

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BV10

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

More...PhosphoSitePlusi		Q9BV10

<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.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000182858, Expressed in right lobe of thyroid gland and 203 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BV10, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BV10, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000182858, Low tissue specificity

<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		122535, 10 interactors

Protein interaction database and analysis system

More...IntActi		Q9BV10, 9 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000333813

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BV10, protein

<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		KOG2516, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183090

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008917_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BV10

Identification of Orthologs from Complete Genome Data

More...OMAi		TSWMAQK

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BV10

TreeFam database of animal gene trees

More...TreeFami		TF314453

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039485, ALG12
IPR005599, GPI_mannosylTrfase

The PANTHER Classification System

More...PANTHERi		PTHR22760, PTHR22760, 1 hit
PTHR22760:SF1, PTHR22760:SF1, 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%5Flength">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9BV10-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAGKGSSGRR PLLLGLLVAV ATVHLVICPY TKVEESFNLQ ATHDLLYHWQ 
        60         70         80         90        100
DLEQYDHLEF PGVVPRTFLG PVVIAVFSSP AVYVLSLLEM SKFYSQLIVR 
       110        120        130        140        150
GVLGLGVIFG LWTLQKEVRR HFGAMVATMF CWVTAMQFHL MFYCTRTLPN 
       160        170        180        190        200
VLALPVVLLA LAAWLRHEWA RFIWLSAFAI IVFRVELCLF LGLLLLLALG 
       210        220        230        240        250
NRKVSVVRAL RHAVPAGILC LGLTVAVDSY FWRQLTWPEG KVLWYNTVLN 
       260        270        280        290        300
KSSNWGTSPL LWYFYSALPR GLGCSLLFIP LGLVDRRTHA PTVLALGFMA 
       310        320        330        340        350
LYSLLPHKEL RFIIYAFPML NITAARGCSY LLNNYKKSWL YKAGSLLVIG 
       360        370        380        390        400
HLVVNAAYSA TALYVSHFNY PGGVAMQRLH QLVPPQTDVL LHIDVAAAQT 
       410        420        430        440        450
GVSRFLQVNS AWRYDKREDV QPGTGMLAYT HILMEAAPGL LALYRDTHRV 
       460        470        480 
LASVVGTTGV SLNLTQLPPF NVHLQTKLVL LERLPRPS
Length:488
Mass (Da):54,655
Last modified:June 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:i8D4F921C21CBC8B6
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C5R7H7C5R7_HUMAN
Mannosyltransferase
ALG12
205Annotation score:

Annotation score:3 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>
H7C4I6H7C4I6_HUMAN
Mannosyltransferase
ALG12
196Annotation score:

Annotation score:3 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 AAM94900 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 conflicti267A → T in AAM94900 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01790467T → M in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907931EnsemblClinVar.1
Natural variantiVAR_038428101G → R in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907933EnsemblClinVar.1
Natural variantiVAR_017905142F → V in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs28942090EnsemblClinVar.1
Natural variantiVAR_017906146R → Q in CDG1G. 2 PublicationsCorresponds to variant dbSNP:rs121907932EnsemblClinVar.1
Natural variantiVAR_017907158L → P in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907934EnsemblClinVar.1
Natural variantiVAR_024466393I → V1 PublicationCorresponds to variant dbSNP:rs3922872EnsemblClinVar.1

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
AJ290427 mRNA Translation: CAC83681.1
AJ303120 mRNA Translation: CAC67488.1
AF311904 mRNA Translation: AAM94900.1 Frameshift.
AF318343 mRNA Translation: AAL55850.1
CR456369 mRNA Translation: CAG30255.1
AL671710 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73480.1
BC001729 mRNA Translation: AAH01729.1
BC098562 mRNA Translation: AAH98562.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14081.1

NCBI Reference Sequences

More...RefSeqi		NP_077010.1, NM_024105.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000330817; ENSP00000333813; ENSG00000182858

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79087

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79087

UCSC genome browser

More...UCSCi		uc003biy.4, human

Keywords - Coding sequence diversityi

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
AJ290427 mRNA Translation: CAC83681.1
AJ303120 mRNA Translation: CAC67488.1
AF311904 mRNA Translation: AAM94900.1 Frameshift.
AF318343 mRNA Translation: AAL55850.1
CR456369 mRNA Translation: CAG30255.1
AL671710 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73480.1
BC001729 mRNA Translation: AAH01729.1
BC098562 mRNA Translation: AAH98562.1
CCDSiCCDS14081.1
RefSeqiNP_077010.1, NM_024105.3

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi122535, 10 interactors
IntActiQ9BV10, 9 interactors
STRINGi9606.ENSP00000333813

Protein family/group databases

CAZyiGT22, Glycosyltransferase Family 22

PTM databases

iPTMnetiQ9BV10
PhosphoSitePlusiQ9BV10

Polymorphism and mutation databases

BioMutaiALG12
DMDMi45476971

Proteomic databases

EPDiQ9BV10
jPOSTiQ9BV10
MassIVEiQ9BV10
MaxQBiQ9BV10
PaxDbiQ9BV10
PeptideAtlasiQ9BV10
PRIDEiQ9BV10
ProteomicsDBi79150

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		28215, 89 antibodies

The DNASU plasmid repository

More...DNASUi		79087

Genome annotation databases

EnsembliENST00000330817; ENSP00000333813; ENSG00000182858
GeneIDi79087
KEGGihsa:79087
UCSCiuc003biy.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79087
DisGeNETi79087
EuPathDBiHostDB:ENSG00000182858.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		ALG12
GeneReviewsiALG12
HGNCiHGNC:19358, ALG12
HPAiENSG00000182858, Low tissue specificity
MalaCardsiALG12
MIMi607143, phenotype
607144, gene
neXtProtiNX_Q9BV10
OpenTargetsiENSG00000182858
Orphaneti79324, ALG12-CDG
PharmGKBiPA134987771

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2516, Eukaryota
GeneTreeiENSGT00950000183090
HOGENOMiCLU_008917_0_0_1
InParanoidiQ9BV10
OMAiTSWMAQK
PhylomeDBiQ9BV10
TreeFamiTF314453

Enzyme and pathway databases

UniPathwayiUPA00378
BRENDAi2.4.1.260, 2681
PathwayCommonsiQ9BV10
ReactomeiR-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4720489, Defective ALG12 causes ALG12-CDG (CDG-1g)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79087, 69 hits in 845 CRISPR screens

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

More...ChiTaRSi		ALG12, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ALG12

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

More...GenomeRNAii		79087
PharosiQ9BV10, Tbio

Protein Ontology

More...PROi		PR:Q9BV10
RNActiQ9BV10, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000182858, Expressed in right lobe of thyroid gland and 203 other tissues
ExpressionAtlasiQ9BV10, baseline and differential
GenevisibleiQ9BV10, HS

Family and domain databases

InterProiView protein in InterPro
IPR039485, ALG12
IPR005599, GPI_mannosylTrfase
PANTHERiPTHR22760, PTHR22760, 1 hit
PTHR22760:SF1, PTHR22760:SF1, 1 hit
PfamiView protein in Pfam
PF03901, Glyco_transf_22, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiALG12_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: Q9BV10
Secondary accession number(s): A6PWM1
, Q4KMH4, Q8NG10, Q96AA4
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: June 1, 2001
Last modified: December 2, 2020
This is version 167 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

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again