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Entry version 142 (11 Dec 2019)
Sequence version 1 (01 Dec 2001)
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Protein

C1GALT1-specific chaperone 1

Gene

C1GALT1C1

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

Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).1 Publication

Miscellaneous

Defects in C1GALT1C1 in Ag104A cell line create a tumor-specific glycopeptidic neo-epitope. This epitope induces a high-affinity, highly specific, syngeneic monoclonal antibody. This is caused by the abolition of function of a glycosyltransferase, disrupting O-glycan Core 1 synthesis.

Caution

Was originally (PubMed:12361956) assigned to be a glycosyltransferase. However, it was later shown (Ref. 2 and PubMed:12464682) that it has no transferase activity and rather acts as a chaperone.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

<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 functionChaperone

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.4.1.122 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5083632 Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
R-HSA-913709 O-linked glycosylation of mucins

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT31 Glycosyltransferase Family 31

<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:
C1GALT1-specific chaperone 1
Alternative name(s):
C38H2-like protein 1
Short name:
C38H2-L1
Core 1 beta1,3-galactosyltransferase 2
Short name:
C1Gal-T2
Short name:
C1GalT2
Short name:
Core 1 beta3-Gal-T2
Core 1 beta3-galactosyltransferase-specific molecular chaperone
<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:C1GALT1C1
Synonyms:COSMC
ORF Names:HSPC067, MSTP143, UNQ273/PRO310
<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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000171155.7

Human Gene Nomenclature Database

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HGNCi
HGNC:24338 C1GALT1C1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300611 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96EU7

<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 – 6CytoplasmicSequence analysis6
<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>Transmembranei7 – 26Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini27 – 318LumenalSequence analysisAdd BLAST292

Keywords - Cellular componenti

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

Tn polyagglutination syndrome (TNPS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders.
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_031911152E → K in TNPS; loss capacity to promote Tn synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs137853599EnsemblClinVar.1
Natural variantiVAR_069275193S → P in TNPS. 1 PublicationCorresponds to variant dbSNP:rs397514537EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
29071

MalaCards human disease database

More...
MalaCardsi
C1GALT1C1
MIMi300622 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000171155

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134974626

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96EU7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C1GALT1C1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74751849

<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_00002850741 – 318C1GALT1-specific chaperone 1Add BLAST318

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96EU7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96EU7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96EU7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96EU7

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

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PaxDbi
Q96EU7

PeptideAtlas

More...
PeptideAtlasi
Q96EU7

PRoteomics IDEntifications database

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PRIDEi
Q96EU7

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
76452

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96EU7

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

More...
PhosphoSitePlusi
Q96EU7

<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. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000171155 Expressed in 218 organ(s), highest expression level in palpebral conjunctiva

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96EU7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA015632

<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 core 1 beta-3-galactosyltransferase (C1GALT1), probably not with the soluble active form.

<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

WithEntry#Exp.IntActNotes
Q9NS004EBI-2837343,EBI-8628584

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
118844, 17 interactors

Protein interaction database and analysis system

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IntActi
Q96EU7, 10 interactors

Molecular INTeraction database

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MINTi
Q96EU7

STRING: functional protein association networks

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STRINGi
9606.ENSP00000304364

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96EU7 protein

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

3D structure databases

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

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SMRi
Q96EU7

Database of comparative protein structure models

More...
ModBasei
Search...

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

<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

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2246 Eukaryota
ENOG410YRJG LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155145

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000013033

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96EU7

KEGG Orthology (KO)

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KOi
K09653

Identification of Orthologs from Complete Genome Data

More...
OMAi
CLKYTGV

Database of Orthologous Groups

More...
OrthoDBi
1407357at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96EU7

TreeFam database of animal gene trees

More...
TreeFami
TF317293

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026731 C1GALT1C1

The PANTHER Classification System

More...
PANTHERi
PTHR23033:SF2 PTHR23033:SF2, 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>Sequencei

<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.

Q96EU7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLSESSSFLK GVMLGSIFCA LITMLGHIRI GHGNRMHHHE HHHLQAPNKE
60 70 80 90 100
DILKISEDER MELSKSFRVY CIILVKPKDV SLWAAVKETW TKHCDKAEFF
110 120 130 140 150
SSENVKVFES INMDTNDMWL MMRKAYKYAF DKYRDQYNWF FLARPTTFAI
160 170 180 190 200
IENLKYFLLK KDPSQPFYLG HTIKSGDLEY VGMEGGIVLS VESMKRLNSL
210 220 230 240 250
LNIPEKCPEQ GGMIWKISED KQLAVCLKYA GVFAENAEDA DGKDVFNTKS
260 270 280 290 300
VGLSIKEAMT YHPNQVVEGC CSDMAVTFNG LTPNQMHVMM YGVYRLRAFG
310
HIFNDALVFL PPNGSDND
Length:318
Mass (Da):36,382
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:i5D766966A872CA84
GO

<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 AAF29039 differs from that shown. Reason: Frameshift.Curated
The sequence CAC80277 differs from that shown. Reason: Erroneous initiation.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 conflicti76K → E in CAC80277 (Ref. 3) Curated1
Sequence conflicti107V → E in AAF29039 (PubMed:11042152).Curated1
Sequence conflicti108F → L in CAC80277 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031910131D → E Common polymorphism; retains capacity to promote Tn synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs17261572EnsemblClinVar.1
Natural variantiVAR_069274143A → V1 PublicationCorresponds to variant dbSNP:rs45557031EnsemblClinVar.1
Natural variantiVAR_031911152E → K in TNPS; loss capacity to promote Tn synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs137853599EnsemblClinVar.1
Natural variantiVAR_069275193S → P in TNPS. 1 PublicationCorresponds to variant dbSNP:rs397514537EnsemblClinVar.1
Natural variantiVAR_069276222Q → H1 PublicationCorresponds to variant dbSNP:rs200973382Ensembl.1

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
AB084170 mRNA Translation: BAC41493.1
AY159319 mRNA Translation: AAN78129.1
AJ238398 mRNA Translation: CAC80277.1 Different initiation.
AF161552 mRNA Translation: AAF29039.1 Frameshift.
AF177284 mRNA Translation: AAQ13670.1
AY358642 mRNA Translation: AAQ89005.1
AC011890 Genomic DNA No translation available.
AK290111 mRNA Translation: BAF82800.1
CH471107 Genomic DNA Translation: EAX11873.1
BC011930 mRNA Translation: AAH11930.1
BC050441 mRNA Translation: AAH50441.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14602.1

NCBI Reference Sequences

More...
RefSeqi
NP_001011551.1, NM_001011551.2
NP_689905.1, NM_152692.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000304661; ENSP00000304364; ENSG00000171155
ENST00000371313; ENSP00000360363; ENSG00000171155
ENST00000673177; ENSP00000500356; ENSG00000288368
ENST00000673568; ENSP00000500561; ENSG00000288368

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
29071

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:29071

UCSC genome browser

More...
UCSCi
uc004esy.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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Functional Glycomics Gateway - GTase

C1GALT1-specific chaperone 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB084170 mRNA Translation: BAC41493.1
AY159319 mRNA Translation: AAN78129.1
AJ238398 mRNA Translation: CAC80277.1 Different initiation.
AF161552 mRNA Translation: AAF29039.1 Frameshift.
AF177284 mRNA Translation: AAQ13670.1
AY358642 mRNA Translation: AAQ89005.1
AC011890 Genomic DNA No translation available.
AK290111 mRNA Translation: BAF82800.1
CH471107 Genomic DNA Translation: EAX11873.1
BC011930 mRNA Translation: AAH11930.1
BC050441 mRNA Translation: AAH50441.1
CCDSiCCDS14602.1
RefSeqiNP_001011551.1, NM_001011551.2
NP_689905.1, NM_152692.4

3D structure databases

SMRiQ96EU7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi118844, 17 interactors
IntActiQ96EU7, 10 interactors
MINTiQ96EU7
STRINGi9606.ENSP00000304364

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

PTM databases

iPTMnetiQ96EU7
PhosphoSitePlusiQ96EU7

Polymorphism and mutation databases

BioMutaiC1GALT1C1
DMDMi74751849

Proteomic databases

EPDiQ96EU7
jPOSTiQ96EU7
MassIVEiQ96EU7
MaxQBiQ96EU7
PaxDbiQ96EU7
PeptideAtlasiQ96EU7
PRIDEiQ96EU7
ProteomicsDBi76452

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
29071

Genome annotation databases

EnsembliENST00000304661; ENSP00000304364; ENSG00000171155
ENST00000371313; ENSP00000360363; ENSG00000171155
ENST00000673177; ENSP00000500356; ENSG00000288368
ENST00000673568; ENSP00000500561; ENSG00000288368
GeneIDi29071
KEGGihsa:29071
UCSCiuc004esy.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
29071
DisGeNETi29071
EuPathDBiHostDB:ENSG00000171155.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C1GALT1C1
HGNCiHGNC:24338 C1GALT1C1
HPAiHPA015632
MalaCardsiC1GALT1C1
MIMi300611 gene
300622 phenotype
neXtProtiNX_Q96EU7
OpenTargetsiENSG00000171155
PharmGKBiPA134974626

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2246 Eukaryota
ENOG410YRJG LUCA
GeneTreeiENSGT00940000155145
HOGENOMiHOG000013033
InParanoidiQ96EU7
KOiK09653
OMAiCLKYTGV
OrthoDBi1407357at2759
PhylomeDBiQ96EU7
TreeFamiTF317293

Enzyme and pathway databases

BRENDAi2.4.1.122 2681
ReactomeiR-HSA-5083632 Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
R-HSA-913709 O-linked glycosylation of mucins

Miscellaneous databases

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

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ChiTaRSi
C1GALT1C1 human

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

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GenomeRNAii
29071
PharosiQ96EU7 Tbio

Protein Ontology

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PROi
PR:Q96EU7
RNActiQ96EU7 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000171155 Expressed in 218 organ(s), highest expression level in palpebral conjunctiva
GenevisibleiQ96EU7 HS

Family and domain databases

InterProiView protein in InterPro
IPR026731 C1GALT1C1
PANTHERiPTHR23033:SF2 PTHR23033:SF2, 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 nameiC1GLC_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: Q96EU7
Secondary accession number(s): A8K246, Q8WWS3, Q9NZX1
<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: May 1, 2007
Last sequence update: December 1, 2001
Last modified: December 11, 2019
This is version 142 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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