Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 171 (12 Aug 2020)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Alpha-mannosidase 2C1

Gene

MAN2C1

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

Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues from glycoproteins. Involved in the degradation of free oligosaccharides in the cytoplasm.1 Publication

<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 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Co2+1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Strongly inhibited by swainsonine. Also inhibited to a lesser extent by deoxymannojirimycin (DMM).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi260CobaltCurated1
Metal bindingi262CobaltCurated1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei372NucleophileBy similarity1
Metal bindingi372CobaltCurated1
Metal bindingi577CobaltCurated1

<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 functionGlycosidase, Hydrolase
LigandCobalt, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.2.1.24, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9NTJ4

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8853383, Lysosomal oligosaccharide catabolism

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH38, Glycoside Hydrolase Family 38

<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:
Alpha-mannosidase 2C1 (EC:3.2.1.241 Publication)
Alternative name(s):
Alpha mannosidase 6A8B
Alpha-D-mannoside mannohydrolase
Mannosidase alpha class 2C member 1
<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:MAN2C1
Synonyms:MANA, MANA1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000140400.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6827, MAN2C1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
154580, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NTJ4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
4123

Open Targets

More...
OpenTargetsi
ENSG00000140400

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30576

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NTJ4, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MAN2C1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
27923805

<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_00002069071 – 1040Alpha-mannosidase 2C1Add BLAST1040

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NTJ4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NTJ4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NTJ4

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

More...
PaxDbi
Q9NTJ4

PeptideAtlas

More...
PeptideAtlasi
Q9NTJ4

PRoteomics IDEntifications database

More...
PRIDEi
Q9NTJ4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
41029
41922
43020
82619 [Q9NTJ4-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NTJ4

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

More...
PhosphoSitePlusi
Q9NTJ4

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000140400, Expressed in left lobe of thyroid gland and 191 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NTJ4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NTJ4, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000140400, 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
110296, 14 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NTJ4, 10 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000457788

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NTJ4, 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

More...
SMRi
Q9NTJ4

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

Belongs to the glycosyl hydrolase 38 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4342, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182799

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_003442_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NTJ4

KEGG Orthology (KO)

More...
KOi
K01191

Identification of Orthologs from Complete Genome Data

More...
OMAi
GQYWDAW

Database of Orthologous Groups

More...
OrthoDBi
85892at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NTJ4

TreeFam database of animal gene trees

More...
TreeFami
TF300335

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1270.50, 1 hit
3.20.110.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011013, Gal_mutarotase_sf_dom
IPR041147, GH38_C
IPR011330, Glyco_hydro/deAcase_b/a-brl
IPR011682, Glyco_hydro_38_C
IPR015341, Glyco_hydro_38_cen
IPR037094, Glyco_hydro_38_cen_sf
IPR000602, Glyco_hydro_38_N
IPR027291, Glyco_hydro_38_N_sf
IPR028995, Glyco_hydro_57/38_cen_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09261, Alpha-mann_mid, 1 hit
PF17677, Glyco_hydro38C2, 1 hit
PF07748, Glyco_hydro_38C, 1 hit
PF01074, Glyco_hydro_38N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00872, Alpha-mann_mid, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF74650, SSF74650, 1 hit
SSF88688, SSF88688, 1 hit
SSF88713, SSF88713, 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>Sequences (4+)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 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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NTJ4-1) [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
MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT
60 70 80 90 100
PERLPYQEAV QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC
110 120 130 140 150
WESDGEGLVW RDGEPVQGLT KEGEKTSYVL TDRLGERDPR SLTLYVEVAC
160 170 180 190 200
NGLLGAGKGS MIAAPDPEKM FQLSRAELAV FHRDVHMLLV DLELLLGIAK
210 220 230 240 250
GLGKDNQRSF QALYTANQMV NVCDPAQPET FPVAQALASR FFGQHGGESQ
260 270 280 290 300
HTIHATGHCH IDTAWLWPFK ETVRKCARSW VTALQLMERN PEFIFACSQA
310 320 330 340 350
QQLEWVKSRY PGLYSRIQEF ACRGQFVPVG GTWVEMDGNL PSGEAMVRQF
360 370 380 390 400
LQGQNFFLQE FGKMCSEFWL PDTFGYSAQL PQIMHGCGIR RFLTQKLSWN
410 420 430 440 450
LVNSFPHHTF FWEGLDGSRV LVHFPPGDSY GMQGSVEEVL KTVANNRDKG
460 470 480 490 500
RANHSAFLFG FGDGGGGPTQ TMLDRLKRLS NTDGLPRVQL SSPRQLFSAL
510 520 530 540 550
ESDSEQLCTW VGELFLELHN GTYTTHAQIK KGNRECERIL HDVELLSSLA
560 570 580 590 600
LARSAQFLYP AAQLQHLWRL LLLNQFHDVV TGSCIQMVAE EAMCHYEDIR
610 620 630 640 650
SHGNTLLSAA AAALCAGEPG PEGLLIVNTL PWKRIEVMAL PKPGGAHSLA
660 670 680 690 700
LVTVPSMGYA PVPPPTSLQP LLPQQPVFVV QETDGSVTLD NGIIRVKLDP
710 720 730 740 750
TGRLTSLVLV ASGREAIAEG AVGNQFVLFD DVPLYWDAWD VMDYHLETRK
760 770 780 790 800
PVLGQAGTLA VGTEGGLRGS AWFLLQISPN SRLSQEVVLD VGCPYVRFHT
810 820 830 840 850
EVHWHEAHKF LKVEFPARVR SSQATYEIQF GHLQRPTHYN TSWDWARFEV
860 870 880 890 900
WAHRWMDLSE HGFGLALLND CKYGASVRGS ILSLSLLRAP KAPDATADTG
910 920 930 940 950
RHEFTYALMP HKGSFQDAGV IQAAYSLNFP LLALPAPSPA PATSWSAFSV
960 970 980 990 1000
SSPAVVLETV KQAESSPQRR SLVLRLYEAH GSHVDCWLHL SLPVQEAILC
1010 1020 1030 1040
DLLERPDPAG HLTLRDNRLK LTFSPFQVLS LLLVLQPPPH
Length:1,040
Mass (Da):115,835
Last modified:October 1, 2000 - 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:i2B40AE6E03AC1E3C
GO
Isoform 2 (identifier: Q9NTJ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     913-935: Missing.

Show »
Length:1,017
Mass (Da):113,461
Checksum:i90AFFF46F25F5294
GO
Isoform 3 (identifier: Q9NTJ4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     201-299: Missing.

Show »
Length:941
Mass (Da):104,690
Checksum:iF2AB8C70108FB535
GO
Isoform 4 (identifier: Q9NTJ4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     650-682: ALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQE → GLTPSPGDSA...DSASRPPPTK

Show »
Length:1,057
Mass (Da):117,187
Checksum:iD2F034EDEC3EB019
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DGU9A0A0C4DGU9_HUMAN
Alpha-mannosidase 2C1
MAN2C1
425Annotation 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>
H3BUW3H3BUW3_HUMAN
Alpha-mannosidase 2C1
MAN2C1
182Annotation 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>
H3BQH9H3BQH9_HUMAN
Alpha-mannosidase 2C1
MAN2C1
183Annotation 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>
H3BQJ2H3BQJ2_HUMAN
Alpha-mannosidase 2C1
MAN2C1
89Annotation 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>
H3BRI3H3BRI3_HUMAN
Alpha-mannosidase 2C1
MAN2C1
182Annotation 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>
H3BMJ3H3BMJ3_HUMAN
Alpha-mannosidase 2C1
MAN2C1
180Annotation 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>
H3BSE5H3BSE5_HUMAN
Alpha-mannosidase 2C1
MAN2C1
172Annotation 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>
B4DH23B4DH23_HUMAN
Alpha-mannosidase 2C1
MAN2C1
209Annotation 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>
H3BRV3H3BRV3_HUMAN
Alpha-mannosidase 2C1
MAN2C1
77Annotation score:

Annotation score:1 out of 5

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

<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 AAC00190 differs from that shown. Reason: Frameshift.Curated
The sequence AAC00568 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 conflicti6A → F in AAC00190 (Ref. 1) Curated1
Sequence conflicti14L → F in AAC00190 (Ref. 1) Curated1
Sequence conflicti24L → I in AAC00190 (Ref. 1) Curated1
Sequence conflicti170M → I in AAC00190 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069180323R → C1 PublicationCorresponds to variant dbSNP:rs200595616Ensembl.1
Natural variantiVAR_061192818R → H. Corresponds to variant dbSNP:rs58557444Ensembl.1
Natural variantiVAR_049211950V → M. Corresponds to variant dbSNP:rs3803467Ensembl.1
Natural variantiVAR_021914960V → I1 PublicationCorresponds to variant dbSNP:rs3803466Ensembl.1
Natural variantiVAR_049212975R → K. Corresponds to variant dbSNP:rs5745934Ensembl.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_046395201 – 299Missing in isoform 3. 1 PublicationAdd BLAST99
Alternative sequenceiVSP_046895650 – 682ALVTV…FVVQE → GLTPSPGDSAQHGLCSCSSP HLTAAPAAPAACVRSARAPT DSASRPPPTK in isoform 4. CuratedAdd BLAST33
Alternative sequenceiVSP_046375913 – 935Missing in isoform 2. 1 PublicationAdd BLAST23

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
AF044414 mRNA Translation: AAC00190.2 Frameshift.
AL136876 mRNA Translation: CAB66810.1
AK225145 mRNA No translation available.
AC068338 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99253.1
BC050550 mRNA Translation: AAH50550.1
BC080191 mRNA Translation: AAH80191.1
U37248 mRNA Translation: AAC00568.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32298.1 [Q9NTJ4-1]
CCDS58389.1 [Q9NTJ4-3]
CCDS58390.1 [Q9NTJ4-2]
CCDS58391.1 [Q9NTJ4-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
T46931

NCBI Reference Sequences

More...
RefSeqi
NP_001243423.1, NM_001256494.1 [Q9NTJ4-4]
NP_001243424.1, NM_001256495.1 [Q9NTJ4-2]
NP_001243425.1, NM_001256496.1 [Q9NTJ4-3]
NP_006706.2, NM_006715.3 [Q9NTJ4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000267978; ENSP00000267978; ENSG00000140400 [Q9NTJ4-1]
ENST00000563622; ENSP00000454589; ENSG00000140400 [Q9NTJ4-3]
ENST00000565683; ENSP00000457788; ENSG00000140400 [Q9NTJ4-4]
ENST00000569482; ENSP00000455998; ENSG00000140400 [Q9NTJ4-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4123

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4123

UCSC genome browser

More...
UCSCi
uc002baf.5, human [Q9NTJ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF044414 mRNA Translation: AAC00190.2 Frameshift.
AL136876 mRNA Translation: CAB66810.1
AK225145 mRNA No translation available.
AC068338 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99253.1
BC050550 mRNA Translation: AAH50550.1
BC080191 mRNA Translation: AAH80191.1
U37248 mRNA Translation: AAC00568.1 Sequence problems.
CCDSiCCDS32298.1 [Q9NTJ4-1]
CCDS58389.1 [Q9NTJ4-3]
CCDS58390.1 [Q9NTJ4-2]
CCDS58391.1 [Q9NTJ4-4]
PIRiT46931
RefSeqiNP_001243423.1, NM_001256494.1 [Q9NTJ4-4]
NP_001243424.1, NM_001256495.1 [Q9NTJ4-2]
NP_001243425.1, NM_001256496.1 [Q9NTJ4-3]
NP_006706.2, NM_006715.3 [Q9NTJ4-1]

3D structure databases

SMRiQ9NTJ4
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110296, 14 interactors
IntActiQ9NTJ4, 10 interactors
STRINGi9606.ENSP00000457788

Protein family/group databases

CAZyiGH38, Glycoside Hydrolase Family 38

PTM databases

iPTMnetiQ9NTJ4
PhosphoSitePlusiQ9NTJ4

Polymorphism and mutation databases

BioMutaiMAN2C1
DMDMi27923805

Proteomic databases

jPOSTiQ9NTJ4
MassIVEiQ9NTJ4
MaxQBiQ9NTJ4
PaxDbiQ9NTJ4
PeptideAtlasiQ9NTJ4
PRIDEiQ9NTJ4
ProteomicsDBi41029
41922
43020
82619 [Q9NTJ4-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
27278, 103 antibodies

Genome annotation databases

EnsembliENST00000267978; ENSP00000267978; ENSG00000140400 [Q9NTJ4-1]
ENST00000563622; ENSP00000454589; ENSG00000140400 [Q9NTJ4-3]
ENST00000565683; ENSP00000457788; ENSG00000140400 [Q9NTJ4-4]
ENST00000569482; ENSP00000455998; ENSG00000140400 [Q9NTJ4-2]
GeneIDi4123
KEGGihsa:4123
UCSCiuc002baf.5, human [Q9NTJ4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4123
DisGeNETi4123
EuPathDBiHostDB:ENSG00000140400.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MAN2C1
HGNCiHGNC:6827, MAN2C1
HPAiENSG00000140400, Low tissue specificity
MIMi154580, gene
neXtProtiNX_Q9NTJ4
OpenTargetsiENSG00000140400
PharmGKBiPA30576

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4342, Eukaryota
GeneTreeiENSGT00950000182799
HOGENOMiCLU_003442_0_1_1
InParanoidiQ9NTJ4
KOiK01191
OMAiGQYWDAW
OrthoDBi85892at2759
PhylomeDBiQ9NTJ4
TreeFamiTF300335

Enzyme and pathway databases

BRENDAi3.2.1.24, 2681
PathwayCommonsiQ9NTJ4
ReactomeiR-HSA-8853383, Lysosomal oligosaccharide catabolism

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
4123, 6 hits in 870 CRISPR screens

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

More...
ChiTaRSi
MAN2C1, human

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

More...
GenomeRNAii
4123
PharosiQ9NTJ4, Tbio

Protein Ontology

More...
PROi
PR:Q9NTJ4
RNActiQ9NTJ4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000140400, Expressed in left lobe of thyroid gland and 191 other tissues
ExpressionAtlasiQ9NTJ4, baseline and differential
GenevisibleiQ9NTJ4, HS

Family and domain databases

Gene3Di1.20.1270.50, 1 hit
3.20.110.10, 1 hit
InterProiView protein in InterPro
IPR011013, Gal_mutarotase_sf_dom
IPR041147, GH38_C
IPR011330, Glyco_hydro/deAcase_b/a-brl
IPR011682, Glyco_hydro_38_C
IPR015341, Glyco_hydro_38_cen
IPR037094, Glyco_hydro_38_cen_sf
IPR000602, Glyco_hydro_38_N
IPR027291, Glyco_hydro_38_N_sf
IPR028995, Glyco_hydro_57/38_cen_sf
PfamiView protein in Pfam
PF09261, Alpha-mann_mid, 1 hit
PF17677, Glyco_hydro38C2, 1 hit
PF07748, Glyco_hydro_38C, 1 hit
PF01074, Glyco_hydro_38N, 1 hit
SMARTiView protein in SMART
SM00872, Alpha-mann_mid, 1 hit
SUPFAMiSSF74650, SSF74650, 1 hit
SSF88688, SSF88688, 1 hit
SSF88713, SSF88713, 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 nameiMA2C1_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: Q9NTJ4
Secondary accession number(s): H3BMX2
, H3BQY8, H3BUT6, Q13358, Q68EM8, Q9UL64
<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: January 27, 2003
Last sequence update: October 1, 2000
Last modified: August 12, 2020
This is version 171 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 chromosome 15
    Human chromosome 15: 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. 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. SIMILARITY comments
    Index of protein domains and families
  6. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
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