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 C... See more...

Aliases for MCOLN1 Gene

Aliases for MCOLN1 Gene

  • Mucolipin 1 2 3 5
  • Transient Receptor Potential Channel Mucolipin 1 3 4
  • Mucolipidin 3 4
  • Mucolipin-1 3 4
  • TRPML1 3 4
  • MG-2 3 4
  • ML1 3 4
  • ML4 3 4
  • Mucolipidosis Type IV Protein 3
  • MSTP080 3
  • TRP-ML1 3
  • TRPM-L1 3
  • MST080 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 Mucolipidosis. Among its related pathways are Ion channel transport and Insulin receptor recycling. Gene Ontology (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 Summary for MCOLN1 Gene

  • Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy (PubMed:11013137, PubMed:12459486, PubMed:15336987, PubMed:14749347, PubMed:29019983). Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events (PubMed:16978393). By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:27787197, PubMed:25733853). Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy (PubMed:27357649). Functions as a Fe(2+) permeable channel in late endosomes and lysosomes (PubMed:18794901). Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 (PubMed:25130899) In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity).
  • May contribute to cellular lipase activity within the late endosomal pathway or at the cell surface which may be involved in processes of membrane reshaping and vesiculation, especially the growth of tubular structures. However, it is not known, whether it conveys the enzymatic activity directly, or merely facilitates the activity of an associated phospholipase.

Gene Wiki entry for MCOLN1 Gene

Additional gene information for MCOLN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCOLN1 Gene

Genomics for MCOLN1 Gene

GeneHancer (GH) Regulatory Elements for MCOLN1 Gene

Promoters and enhancers for MCOLN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCOLN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCOLN1

Top Transcription factor binding sites by QIAGEN in the MCOLN1 gene promoter:
  • AhR
  • AP-1
  • Arnt
  • ATF-2
  • c-Ets-1
  • c-Jun
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2

Genomic Locations for MCOLN1 Gene

Genomic Locations for MCOLN1 Gene
chr19:7,522,610-7,534,009
(GRCh38/hg38)
Size:
11,400 bases
Orientation:
Plus strand
chr19:7,587,496-7,598,895
(GRCh37/hg19)
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:
    • Homotetramer (PubMed:28112729, PubMed:29019983). Homooligomer (PubMed:14749347). Can heterooligomerize with MCOLN2 or MCOLN3; heteromeric assemblies have different channel properties as compared to the respective homooligomers and may be tissue-specific (PubMed:19885840). Interacts with PDCD6 (PubMed:19864416). Interacts with TMEM163 (PubMed:25130899). Interacts with LAPTM4B (PubMed:21224396).
    SequenceCaution:
    • Sequence=AAQ13604.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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};

    Three dimensional structures from OCA and Proteopedia for MCOLN1 Gene

neXtProt entry for MCOLN1 Gene

Post-translational modifications for MCOLN1 Gene

  • Palmitoylated; involved in association with membranes.
  • Phosphorylation by PKA inhibits channel activity. Dephosphorylation increases activity.
  • Proteolytically cleaved probably involving multiple lysosomal proteases including cathepsin B; inhibits lysosomal channel activity (PubMed:16257972).
  • Glycosylation at Asn159, Asn179, and Asn230
  • 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for MCOLN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCOLN1 Gene

GenScript: Design optimal peptide antigens:
  • Mucolipidin (MCLN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZU1

UniProtKB/Swiss-Prot:

MCLN1_HUMAN :
  • The most N-terminal extracellular/lumenal domain (referred to as I-II linker or polycystin-mucolipin domain) contributes to a structure with a four-fold rotational symmetry in a tetrameric assembly; the structure contains a central highly electronegative pore with a 14 A diameter. The pore is critical for Ca(2+) and pH regulation. The protruding structure formed by the I-II linkers may contain all the interaction sites with lipids and proteins in the endolysosomal lumen.
  • Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.
Domain:
  • The most N-terminal extracellular/lumenal domain (referred to as I-II linker or polycystin-mucolipin domain) contributes to a structure with a four-fold rotational symmetry in a tetrameric assembly; the structure contains a central highly electronegative pore with a 14 A diameter. The pore is critical for Ca(2+) and pH regulation. The protruding structure formed by the I-II linkers may contain all the interaction sites with lipids and proteins in the endolysosomal lumen.
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 Function:
Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy (PubMed:11013137, PubMed:12459486, PubMed:15336987, PubMed:14749347, PubMed:29019983). Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events (PubMed:16978393). By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:27787197, PubMed:25733853). Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy (PubMed:27357649). Functions as a Fe(2+) permeable channel in late endosomes and lysosomes (PubMed:18794901). Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 (PubMed:25130899) In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity).
UniProtKB/Swiss-Prot Function:
May contribute to cellular lipase activity within the late endosomal pathway or at the cell surface which may be involved in processes of membrane reshaping and vesiculation, especially the growth of tubular structures. However, it is not known, whether it conveys the enzymatic activity directly, or merely facilitates the activity of an associated phospholipase.
UniProtKB/Swiss-Prot EnzymeRegulation:
Channel activity is controlled by multiple regulatory mechanisms in different subcellular compartments. 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; a negative cooperativity between extracellular/lumenal Ca(2+) and H(+) is suggested (PubMed:12459486, PubMed:28112729). Regulated by phosphoinositides in a compartment-specific manner: in lysosomes activated by PtdIns(3,5)P2 (Phosphatidylinositol 3,5-bisphosphate) and at the plasma membrane inhibited by PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) (PubMed:22733759, PubMed:29019983).

Phenotypes From GWAS Catalog for MCOLN1 Gene

Gene Ontology (GO) - Molecular Function for MCOLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity NAS,IEA 11030752
GO:0005381 iron ion transmembrane transporter activity TAS --
GO:0005515 protein binding IPI 21224396
GO:0008289 lipid binding IEA --
GO:0072345 NAADP-sensitive calcium-release channel activity IEA,IBA 21873635
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:

Clone 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

Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Cell projection, phagocytic cup. Cytoplasmic vesicle, phagosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Delivery from the trans-Golgi to lysosomes seems to occur mainly in a direct intracellular manner without intermediate delivery to the plasma membrane (PubMed:16497227). Under normal conditions, restricted to intracellular compartments so that only a very minor proportion is present at the cell membrane (PubMed:12459486, PubMed:18794901, PubMed:28112729, PubMed:29019983). {ECO:0000269 PubMed:12459486, ECO:0000269 PubMed:18794901, ECO:0000269 PubMed:28112729, ECO:0000269 PubMed:29019983, ECO:0000305 PubMed:16497227}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCOLN1 gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 5
nucleus 4
golgi apparatus 4
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Golgi apparatus (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MCOLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001891 phagocytic cup IEA --
GO:0005623 cell IEA --
GO:0005654 nucleoplasm IDA --
GO:0005764 lysosome IDA,IEA 21224396
GO:0005765 lysosomal membrane IBA 21873635
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

SIGNOR curated interactions for MCOLN1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MCOLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport NAS 11030752
GO:0006816 calcium ion transport IEA --
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

mRNA/cDNA for MCOLN1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for MCOLN1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCOLN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MCOLN1: view

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 31 30
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MCOLN1 31 30
  • 88.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MCOLN1 31 30
  • 88.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mcoln1 17 31 30
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Mcoln1 30
  • 86.21 (n)
oppossum
(Monodelphis domestica)
Mammalia MCOLN1 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCOLN1 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCOLN1 31 30
  • 75.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCOLN1 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcoln1 30
  • 66.12 (n)
Str.2017 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12533 30
zebrafish
(Danio rerio)
Actinopterygii mcoln1b 31 30
  • 65.2 (n)
OneToMany
mcoln1a 31
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8743 32
  • 38 (a)
trpml 31
  • 33 (a)
ManyToMany
CG42638 31
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cup-5 31 32
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MCOLN1: view image

Paralogs for MCOLN1 Gene

Paralogs for MCOLN1 Gene

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

  • MCLN1_HUMAN
  • M0QXD0_HUMAN
  • M0R1X7_HUMAN
genes like me logo Genes that share paralogs with MCOLN1: view

Variants for MCOLN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCOLN1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
652904 Uncertain Significance: Mucolipidosis type IV 7,527,537(+) C/T MISSENSE_VARIANT
661439 Pathogenic: Mucolipidosis type IV 7,526,799(+) G/GT FRAMESHIFT_VARIANT
664616 Uncertain Significance: Mucolipidosis type IV 7,525,000(+) C/A MISSENSE_VARIANT
710771 Likely Benign: not provided 7,527,512(+) G/A INTRON_VARIANT
711079 Likely Benign: not provided 7,528,667(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MCOLN1 Gene

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)

Additional Variant Information 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

(23) MalaCards diseases for MCOLN1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucolipidosis iv
  • ml4
mucolipidosis
spastic paraplegia 39
  • spastic paraplegia 39, autosomal recessive
lysosomal storage disease
  • disorder of lysosomal enzyme
retinal degeneration
  • degeneration of retina
- 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:10973263, ECO:0000269 PubMed:11013137, ECO:0000269 PubMed:11030752, ECO:0000269 PubMed:11317355, ECO:0000269 PubMed:12182165, ECO:0000269 PubMed:14749347, ECO:0000269 PubMed:15178326, ECO:0000269 PubMed:15523648, ECO:0000269 PubMed:16978393, ECO:0000269 PubMed:18794901, ECO:0000269 PubMed:21256127, ECO:0000269 PubMed:28112729}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MCOLN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Human mutation 2001) 3 4 23 41 54
  2. Functional multimerization of mucolipin channel proteins. (PMID: 19885840) Curcio-Morelli C … Slaugenhaupt SA (Journal of cellular physiology 2010) 3 4 23 54
  3. Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1. (PMID: 19864416) Vergarajauregui S … Puertollano R (The Journal of biological chemistry 2009) 3 4 23 54
  4. Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation. (PMID: 17988215) Vergarajauregui S … Puertollano R (The Biochemical journal 2008) 3 4 23 54
  5. The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. (PMID: 18794901) Dong XP … Xu H (Nature 2008) 3 4 23 54

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