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Aliases for MCOLN1 Gene

Aliases for MCOLN1 Gene

  • Mucolipin 1 2 3 5
  • Mucolipidin 3 4
  • MG-2 3 4
  • ML4 3 4
  • Mucolipidosis Type IV Protein 3
  • Mucolipin-1 3
  • MSTP080 3
  • TRP-ML1 3
  • TRPM-L1 3
  • MST080 3
  • TRPML1 3
  • MLIV 3

External Ids for MCOLN1 Gene

Previous GeneCards Identifiers for MCOLN1 Gene

  • GC19P007545
  • GC19P007693
  • GC19P007482
  • GC19P007493
  • GC19P007258
  • GC19P007587

Summaries for MCOLN1 Gene

Entrez Gene Summary for MCOLN1 Gene

  • This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]

GeneCards Summary for MCOLN1 Gene

MCOLN1 (Mucolipin 1) is a Protein Coding gene. Diseases associated with MCOLN1 include Mucolipidosis Iv and Cerebral Palsy, Ataxic, Autosomal Recessive. Among its related pathways are Ion channel transport and Iron metabolism in placenta. GO annotations related to this gene include cation channel activity and NAADP-sensitive calcium-release channel activity. An important paralog of this gene is MCOLN3.

UniProtKB/Swiss-Prot for MCOLN1 Gene

  • Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis.

Gene Wiki entry for MCOLN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCOLN1 Gene

Genomics for MCOLN1 Gene

Regulatory Elements for MCOLN1 Gene

Enhancers for MCOLN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F007543 1.8 FANTOM5 Ensembl ENCODE 14.4 +22.2 22163 3.3 BCOR ESRRA NR2F1 ZMYM3 CEBPB BCL11B NR2F2 FOSL1 BCL11A SCRT2 MCOLN1 MCEMP1 PEX11G PNPLA6 STXBP2 RETN GC19M007532 CAMSAP3
GH19F007700 0.9 FANTOM5 ENCODE 10 +181.9 181878 7.0 HDGF PKNOX1 YBX1 ELK1 ZNF143 JUNB TBX21 ZNF610 NBN STAT3 STXBP2 FCER2 PEX11G CD209 CLEC4G RPL21P129 MCEMP1 MCOLN1 PNPLA6 RAB11B-AS1
GH19F007673 0.8 FANTOM5 ENCODE 9.8 +151.9 151882 1.2 CBX3 PKNOX1 DDX20 FEZF1 GATA3 ZNF366 NFYB EED ZBTB20 SP3 MCEMP1 MCOLN1 STXBP2 PEX11G PNPLA6 RETN
GH19F007655 1.7 FANTOM5 Ensembl ENCODE 8.4 +134.7 134691 4.2 PKNOX1 ZNF384 BMI1 RFX5 ZFHX2 POLR2A SCRT2 NFYB EED NR2F6 MCEMP1 XAB2 PCP2 STXBP2 MCOLN1 PEX11G ENSG00000268204 PNPLA6 RETN RPS27AP19
GH19F007678 1 FANTOM5 ENCODE 6.8 +158.1 158086 3.6 PKNOX1 CREB3L1 WRNIP1 SIN3A ARID4B YY1 ZNF207 ZNF143 KLF13 SP3 ELAVL1 HNRNPM XAB2 RPL21P129 LYPLA2P2 MBD3L3 MBD3L5 FLJ25758 ENSG00000261866 LINC01862
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MCOLN1 on UCSC Golden Path with GeneCards custom track

Promoters for MCOLN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000342853 290 1401 HDGF CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207

Genomic Location for MCOLN1 Gene

Chromosome:
19
Start:
7,522,610 bp from pter
End:
7,534,009 bp from pter
Size:
11,400 bases
Orientation:
Plus strand

Genomic View for MCOLN1 Gene

Genes around MCOLN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCOLN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCOLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCOLN1 Gene

Proteins for MCOLN1 Gene

  • Protein details for MCOLN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZU1-MCLN1_HUMAN
    Recommended name:
    Mucolipin-1
    Protein Accession:
    Q9GZU1
    Secondary Accessions:
    • D6W647
    • Q7Z4F7
    • Q9H292
    • Q9H4B3
    • Q9H4B5

    Protein attributes for MCOLN1 Gene

    Size:
    580 amino acids
    Molecular mass:
    65022 Da
    Quaternary structure:
    • Forms multimeric complexes. Interacts with PDCD6.
    SequenceCaution:
    • Sequence=AAQ13604.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC07813.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=EAW69031.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW69034.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for MCOLN1 Gene

Post-translational modifications for MCOLN1 Gene

  • Glycosylation at Asn 159, Asn 179, and Asn 230
  • Modification sites at PhosphoSitePlus

Other Protein References for MCOLN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MCOLN1 Gene

Domains & Families for MCOLN1 Gene

Gene Families for MCOLN1 Gene

Protein Domains for MCOLN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCOLN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9GZU1

UniProtKB/Swiss-Prot:

MCLN1_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.
genes like me logo Genes that share domains with MCOLN1: view

Function for MCOLN1 Gene

Molecular function for MCOLN1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot Function:
Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis.

Gene Ontology (GO) - Molecular Function for MCOLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity NAS 11030752
GO:0005262 calcium channel activity TAS --
GO:0005381 iron ion transmembrane transporter activity TAS --
GO:0072345 NAADP-sensitive calcium-release channel activity IEA --
genes like me logo Genes that share ontologies with MCOLN1: view
genes like me logo Genes that share phenotypes with MCOLN1: view

Human Phenotype Ontology for MCOLN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MCOLN1 Gene

MGI Knock Outs for MCOLN1:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for MCOLN1 Gene

Localization for MCOLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCOLN1 Gene

Cell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCOLN1 Gene COMPARTMENTS Subcellular localization image for MCOLN1 gene
Compartment Confidence
endosome 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MCOLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 17897319
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with MCOLN1: view

Pathways & Interactions for MCOLN1 Gene

genes like me logo Genes that share pathways with MCOLN1: view

Pathways by source for MCOLN1 Gene

Interacting Proteins for MCOLN1 Gene

SIGNOR curated interactions for MCOLN1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MCOLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport NAS 11030752
GO:0006816 calcium ion transport IEA --
GO:0033572 transferrin transport TAS --
genes like me logo Genes that share ontologies with MCOLN1: view

Drugs & Compounds for MCOLN1 Gene

(5) Drugs for MCOLN1 Gene - From: DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PHOSPHATIDYL (3,5) INOSITOL BIPHOSPHATE Pharma 0
ML SA1 Pharma Activator of TRPML channels 0
SN 2 Pharma Selective TRPML3 channel activator 0

(2) Additional Compounds for MCOLN1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MK6-83
1062271-24-2

(3) Tocris Compounds for MCOLN1 Gene

Compound Action Cas Number
MK6-83 TRPML channel activator 1062271-24-2
ML SA1 Activator of TRPML channels 332382-54-4
SN 2 Selective TRPML3 channel activator 823218-99-1
genes like me logo Genes that share compounds with MCOLN1: view

Transcripts for MCOLN1 Gene

Unigene Clusters for MCOLN1 Gene

Mucolipin 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCOLN1 Gene

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: -
SP6: - -
SP7:
SP8:
SP9:

ExUns: 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for MCOLN1 Gene

GeneLoc Exon Structure for
MCOLN1
ECgene alternative splicing isoforms for
MCOLN1

Expression for MCOLN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCOLN1 Gene

mRNA differential expression in normal tissues according to GTEx for MCOLN1 Gene

This gene is overexpressed in Whole Blood (x6.0).

Protein differential expression in normal tissues from HIPED for MCOLN1 Gene

This gene is overexpressed in Cervix (63.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCOLN1 Gene



Protein tissue co-expression partners for MCOLN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MCOLN1 Gene:

MCOLN1

SOURCE GeneReport for Unigene cluster for MCOLN1 Gene:

Hs.631858

mRNA Expression by UniProt/SwissProt for MCOLN1 Gene:

Q9GZU1-MCLN1_HUMAN
Tissue specificity: Widely expressed in adult and fetal tissues.
genes like me logo Genes that share expression patterns with MCOLN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MCOLN1 Gene

Orthologs for MCOLN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MCOLN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCOLN1 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia MCOLN1 34 35
  • 88.79 (n)
cow
(Bos Taurus)
Mammalia MCOLN1 34 35
  • 88.56 (n)
mouse
(Mus musculus)
Mammalia Mcoln1 34 16 35
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Mcoln1 34
  • 86.21 (n)
oppossum
(Monodelphis domestica)
Mammalia MCOLN1 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCOLN1 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCOLN1 34 35
  • 75.58 (n)
lizard
(Anolis carolinensis)
Reptilia MCOLN1 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcoln1 34
  • 66.12 (n)
Str.2017 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.12533 34
zebrafish
(Danio rerio)
Actinopterygii mcoln1b 34 35
  • 65.2 (n)
mcoln1a 35
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8743 36
  • 38 (a)
CG42638 35
  • 33 (a)
ManyToMany
trpml 35
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cup-5 36 35
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
Species where no ortholog for MCOLN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCOLN1 Gene

ENSEMBL:
Gene Tree for MCOLN1 (if available)
TreeFam:
Gene Tree for MCOLN1 (if available)

Paralogs for MCOLN1 Gene

Paralogs for MCOLN1 Gene

(2) SIMAP similar genes for MCOLN1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MCOLN1: view

Variants for MCOLN1 Gene

Sequence variations from dbSNP and Humsavar for MCOLN1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs121908372 Mucolipidosis 4 (ML4) [MIM:252650], other 7,528,920(+) CCAGC(G/T)ATGTG reference, missense
rs121908374 Mucolipidosis 4 (ML4) [MIM:252650], Pathogenic 7,529,173(+) TGATC(C/T)GCTAC reference, missense
rs767122713 Mucolipidosis 4 (ML4) [MIM:252650], Pathogenic 7,527,877(+) ATGTC(A/C)CCATC reference, missense
rs797044825 Mucolipidosis 4 (ML4) [MIM:252650], Pathogenic 7,526,518(+) CTTCC(C/T)GCTGG upstream-variant-2KB, reference, missense
rs797044827 Mucolipidosis 4 (ML4) [MIM:252650], Pathogenic 7,529,693(+) CGTGC(C/T)GGGGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MCOLN1 Gene

Variant ID Type Subtype PubMed ID
esv2751809 CNV gain 17911159
nsv1060887 CNV gain 25217958
nsv1123214 CNV deletion 24896259
nsv833730 CNV loss 17160897

Variation tolerance for MCOLN1 Gene

Residual Variation Intolerance Score: 34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 40.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCOLN1 Gene

Human Gene Mutation Database (HGMD)
MCOLN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCOLN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCOLN1 Gene

Disorders for MCOLN1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MCOLN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucolipidosis iv
  • gangliosidosis
cerebral palsy, ataxic, autosomal recessive
  • ataxic cerebral palsy
strabismus
sphingolipidosis
  • sphingolipidoses
lipid storage disease
  • inborn lipid storage disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MCLN1_HUMAN
  • Mucolipidosis 4 (ML4) [MIM:252650]: An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. {ECO:0000269 PubMed:11030752, ECO:0000269 PubMed:11317355, ECO:0000269 PubMed:12182165, ECO:0000269 PubMed:15523648}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MCOLN1

Genetic Association Database (GAD)
MCOLN1
Human Genome Epidemiology (HuGE) Navigator
MCOLN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCOLN1
genes like me logo Genes that share disorders with MCOLN1: view

No data available for Genatlas for MCOLN1 Gene

Publications for MCOLN1 Gene

  1. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non- Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. (PMID: 11317355) Bargal R. … Bach G. (Hum. Mutat. 2001) 3 4 22 46 64
  2. Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1. (PMID: 19864416) Vergarajauregui S. … Puertollano R. (J. Biol. Chem. 2009) 3 4 22 64
  3. The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. (PMID: 16287144) Bach G. … Ekstein J. (Hum. Mutat. 2005) 3 22 46 64
  4. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. (PMID: 14749347) Raychowdhury M.K. … Cantiello H.F. (Hum. Mol. Genet. 2004) 3 4 22 64
  5. Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. (PMID: 15178326) Manzoni M. … Borsani G. (FEBS Lett. 2004) 3 4 22 64

Products for MCOLN1 Gene

Sources for MCOLN1 Gene

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