MCOLN1 Gene
protein-coding GIFtS: 61
GCID: GC19P007493
|
|
mucolipin 1
| |
Aliases
for MCOLN1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mucolipin 11 2 | | MSTP0801 | | ML41 2 3 5 | | TRP-ML12 | | MLIV1 2 | | Mucolipidin3 | | MST0801 2 | | Mucolipidosis Type IV Protein2 | | TRPM-L11 2 | | Mucolipin-11 | | TRPML11 2 | | Mucolipidin3 | | MG-22 3 | | |
Export aliases for MCOLN1 gene to outside databasesPrevious GC identifers: GC19P007545 GC19P007693 GC19P007482 GC19P007258 |
Summaries
for MCOLN1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MCOLN1:
This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembraneprotein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocyticpathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), andH(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV.(provided by RefSeq, Oct 2009)
UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1Function: Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking ofproteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis
Gene Wiki entry for MCOLN1
|
Genomic Views
for MCOLN1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_077812.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MCOLN1 gene promoter:
Nkx3-1 AhR AP-1 ATF-2 Nkx3-1 v1 Arnt c-Ets-1 Nkx3-1 v2 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for MCOLN1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCOLN1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.2 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.2MCOLN1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P007493: view genomic region
(about GC identifiers)
Start:
|
7,587,496 bp from pter |
End:
|
7,598,895 bp from pter |
Size:
|
11,400 bases |
Orientation:
|
plus strand |
|
Proteins
for MCOLN1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1 (See
protein sequence)Recommended Name: Mucolipin-1 Size: 580 amino acids; 65022 Da
Subunit: Forms multimeric complexes
Subcellular location: Cell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein.Lysosome membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAQ13604.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=CAC07813.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=EAW69031.1;Type=Erroneous gene model prediction; Sequence=EAW69034.1; Type=Erroneous gene model prediction;
Secondary accessions: D6W647 Q7Z4F7 Q9H292 Q9H4B3 Q9H4B5Explore the universe of human proteins at neXtProt for MCOLN1: NX_Q9GZU1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9GZU1
MCOLN1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065394.1
ENSEMBL proteins: ENSP00000264079 ENSP00000377856 Reactome Protein details: Q9GZU1
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
MCOLN1 for ontologies About GeneDecksing
MCOLN1 Antibody Products:
Assay Products for MCOLN1: |
Protein
Domains /
Families
for MCOLN1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MCOLN1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9GZU1ProtoNet protein and cluster: Q9GZU1 UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1Similarity: Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily |
Function
for MCOLN1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1Function: Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking ofproteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosisEnzyme regulation: Channel function is transiently modulated by changes in Ca(2+), and inhibited by a reduction of pH;pH changes modify the aggregation state of unitary channels
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MCOLN1 (NM_020533) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MCOLN1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCOLN1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCOLN1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
MCOLN1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for MCOLN1: Mcoln1tm1Asoy Mcoln1tm1Sasl
13 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Mcoln1):
MCOLN1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for MCOLN1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Insulin receptor recycling | | | 2 | Potassium transporters: inward current | | | 3 | iron metabolism in placenta | | | 4 | Lysosome | | | 5 | Sodium channels and transporters: inward current | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for MCOLN1
1  BioSystems Pathway for MCOLN1
3 
Reactome Pathways for MCOLN1
1 
Kegg Pathway (Kegg details for MCOLN1):
MCOLN1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MCOLN1
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
5 Interacting proteins for MCOLN1 (Q9GZU12, 3 ENSP000002640794) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
MCOLN1 for ontologies About GeneDecksing
|
Drugs & Compounds
for MCOLN1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MCOLN1 for compounds About GeneDecksing
 Browse Tocris compounds for MCOLN1
3 Novoseek chemical compound relationships for MCOLN1 gene About this table
Search CenterWatch for drugs/clinical trials and news about MCOLN1 / MCLN1
|
Transcripts
for MCOLN1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MCOLN1 gene: NM_020533.2 Unigene Cluster for MCOLN1: Mucolipin 1 Hs.631858 [show with all ESTs]Unigene Representative Sequence: NM_0205332 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000264079(uc010dvh.2 uc002mgo.3) ENST00000394321(uc002mgp.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MCOLN1 (NM_020533) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MCOLN1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCOLN1 |
Additional cDNA sequence: AF171088.1 AF249319.1 AF287269.1 AJ293970.1 AK026102.1 AK222673.1 AK294330.1 AK310109.1 AK310175.1 BC005149.2 15 DOTS entries: DT.447577 DT.95302575 DT.121456062 DT.97843550 DT.100669889 DT.100817129 DT.92423897 DT.100027296 DT.100771803 DT.121456035 DT.91664778 DT.92411457 DT.95257059 DT.100785643 DT.95180383 24/317 AceView cDNA sequences (see all 317): AA160594 CD367410 NM_020533 AI868385 BF883797 AF249319 BU617407 BQ637528 AA831948 BF529860 BF727209 CR603716 BX402300 BE645020 AA329668 BI759524 BC050553 AI373623 BF002146 AI672082 CD300188 AU279684 AI432639 BQ901107
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MCOLN1 (see all 9) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ |
|---|
|
| SP1: | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | - | | - | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | |
| ExUns: | 15a | · | 15b |
|---|
|
| SP1: | | | | | |
| SP2: | | | | | |
| SP3: | | | | | |
| SP4: | | | | | |
| SP5: | | | | |
ECgene alternative splicing isoforms for MCOLN1
|
Expression
for MCOLN1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MCOLN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGCTCAGCC
About this image
See MCOLN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MCOLN1
SOURCE GeneReport for Unigene cluster: Hs.631858
UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1Tissue specificity: Widely expressed in adult and fetal tissues
SABiosciences Custom PCR Arrays for MCOLN1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MCOLN1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MCOLN1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCOLN1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCOLN1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCOLN1 |
Orthologs
for MCOLN1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for MCOLN1 gene from 7/22 species (see all 22) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Mcoln11 , 5 |
mucolipin 11, 5 |
86.26(n)1
91.38(a)1 |
|
8 (1.92 cM)5
941781 NM_053177.11 NP_444407.11
35004575 |
chicken
(Gallus gallus) |
Aves |
MCOLN11 |
mucolipin 1 |
75.95(n)
72.37(a) |
|
426164 XM_423829.3 XP_423829.3 |
lizard
(Anolis carolinensis) |
Reptilia |
MCOLN16 |
-- |
65(a) |
1 ↔ 1 |
2(79979110-79993490) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.125332 |
Xenopus laevis transcribed sequence with moderate similarity more |
79.82(n) |
|
BJ029029.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
LOC7959161 |
mucolipin-1-like |
65.75(n)
62.34(a) |
|
795916 XM_001336163.1 XP_001336199.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG87433 |
calcium ion transport calcium channel |
38(a) |
|
76C3 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
cup-53 |
Expression: coelomocytes |
34(a) |
|
III -0.650000 -- |
ENSEMBL Gene Tree for MCOLN1 (if available)
TreeFam Gene Tree for MCOLN1 (if available) |
Paralogs
for MCOLN1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MCOLN1 gene
- MCOLN22 MCOLN32
2 SIMAP similar genes for MCOLN1 using alignment to 3 protein entries: MCLN1_HUMAN (see all proteins):MCOLN2 MCOLN3
MCOLN1 for paralogs About GeneDecksing
|
Genomic Variants
for MCOLN1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MCOLN1 (7587496 - 7598895 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MCOLN1
1 CNV: 8863
Human Gene Mutation Database (HGMD): MCOLN1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCOLN1 |
|
Disorders
/ Diseases
for MCOLN1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MCOLN1 for disorders About GeneDecksing
OMIM gene information: 605248
OMIM disorders: 252650
UniProtKB/Swiss-Prot: MCLN1_HUMAN, Q9GZU1
Defects in MCOLN1 are the cause of mucolipidosis type IV (MLIV) [MIM:252650]; also known as sialolipidosis.MLIV is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation andophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipidsand water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patientsare unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients haveconstitutive achlorhydia associated with a secondary elevation of serum gastrin levels. MLIV may be due to a defect insorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among AshkenaziJews
7  diseases for MCOLN1: About MalaCardsmucolipidosis lysosomal storage disease mucolipidosis iv strabismus
retinal degeneration neurodegenerative disease retinitis
1 disease from the University of Copenhagen DISEASES database for MCOLN1:Mucolipidosis 8 Novoseek disease relationships for MCOLN1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| type iv mucolipidosis |
99.5 |
74 |
18258208 (2), 12459486 (2), 11013137 (2), 11317355 (2) (see all 47) |
| lysosomal storage diseases |
82.7 |
14 |
15070744 (1), 10352940 (1), 19041749 (1), 17988215 (1) (see all 7) |
| achlorhydria |
81 |
3 |
15070744 (1), 18326692 (1), 17924347 (1) |
| retinal degeneration |
63.2 |
3 |
11461186 (1), 11013137 (1), 10973263 (1) |
| strabismus |
47.4 |
3 |
11461186 (1), 11013137 (1), 10973263 (1) |
| visual impairment |
46.2 |
3 |
15570434 (1), 18258208 (1), 10411915 (1) |
| neurodegenerative diseases |
41.1 |
6 |
17989217 (1), 19041749 (1), 19638346 (1), 11030752 (1) |
| congenital malformation |
11.1 |
2 |
14749347 (1), 16133264 (1) |
GeneTests: MCOLN1
Mucolipidosis IV
Genetic Association Database (GAD): MCOLN1
Human Genome Epidemiology (HuGE) Navigator: MCOLN1 (5 documents)
Export disorders for MCOLN1 gene to outside databases
|
Publications
for MCOLN1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MCOLN1 gene, integrated from 9 sources (see all 88):
(articles sorted by number of sources associating them with MCOLN1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non- Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. (PubMed id 11317355)1, 2, 4, 9 Bargal R.... Bach G. (2001)
- Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two major founder mutations causing mucolipidosis type IV. (PubMed id 11013137)1, 2, 9 Bassi M.T.... Borsani G. (2000)
- Identification of the gene causing mucolipidosis type IV. (PubMed id 10973263)1, 2, 9 Bargal R.... Bach G. (2000)
- Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. (PubMed id 14749347)1, 2, 9 Raychowdhury M.K.... Cantiello H.F. (2004)
- The neurogenetics of mucolipidosis type IV. (PubMed id 12182165)1, 2, 9 Altarescu G.... Schiffmann R. (2002)
- Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. (PubMed id 11030752)1, 2, 9 Sun M.... Slaugenhaupt S.A. (2000)
- Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. (PubMed id 12459486)1, 2, 9 LaPlante J.M.... Vassilev P.M. (2002)
- Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. (PubMed id 15178326)1, 2, 9 Manzoni M.... Borsani G. (2004)
- Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. (PubMed id 11845410)1, 4, 9 Edelmann L....Kornreich R. (2002)
- International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)1, 3 Clapham D.E....Schultz G. (2005)
|
External Searches for MCOLN1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MCOLN1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing MCOLN1 gene
(According to HUGE)
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Specialized Databases showing MCOLN1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for MCOLN1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MCOLN1 |
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| Patent Information for MCOLN1 gene:
Search GeneIP for patents involving MCOLN1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MCOLN1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for MCOLN1 | | OriGene shRNA RFP for MCOLN1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MCOLN1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MCOLN1 | | | OriGene Protein Over-expression Lysate for MCOLN1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MCOLN1 | | OriGene 3'-UTR Clone for MCOLN1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MCOLN1 | | OriGene Custom Protein Services for MCOLN1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MCOLN1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCOLN1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCOLN1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MCOLN1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCOLN1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCOLN1 |
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| | | | Search Tocris compounds for MCOLN1 |
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 | | | MCOLN1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCOLN1 |
|  |  |  | | | | ThermoFisher Antibodies for MCOLN1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCOLN1 |
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