MCOLN1 (ML4, Mucolipin-1, MG-2, Mucolipidin, MSTP080, TRP-ML1, TRPM-L1, TRPML1) | MyBioSource MBS6006049 product information

product summary

company name :

MyBioSource

product type :

antibody

product name :

MCOLN1 (ML4, Mucolipin-1, MG-2, Mucolipidin, MSTP080, TRP-ML1, TRPM-L1, TRPML1)

catalog :

MBS6006049

quantity :

0.05 mg

price :

580 USD

clonality :

polyclonal

host :

mouse

conjugate :

nonconjugated

reactivity :

human

application :

western blot

more info or order :

MyBioSource product webpage

image

image 1 :

Western Blot analysis of MCOLN1 expression in transfected 293T cell line by MBS6006049. Lane 1: MCOLN1 transfected lysate (63.8kD). Lane 2: Non-transfected lysate.

product information

catalog number :

MBS6006049

products type :

Antibody

products full name :

MCOLN1 (ML4, Mucolipin-1, MG-2, Mucolipidin, MSTP080, TRP-ML1, TRPM-L1, TRPML1)

products short name :

[MCOLN1]

products name syn :

[Anti -MCOLN1 (ML4, Mucolipin-1, MG-2, Mucolipidin, MSTP080, TRP-ML1, TRPM-L1, TRPML1)]

other names :

[mucolipin-1; Mucolipin-1; mucolipin-1; mucolipidin; mucolipidosis type IV protein; mucolipin 1; MG-2; Mucolipidin]

other gene names :

[MCOLN1; MCOLN1; ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1; ML4]

uniprot entry name :

MCLN1_HUMAN

clonality :

Polyclonal

isotype :

IgG

host :

Mouse

reactivity :

Human

sequence :

MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEE
DLRRRLKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTV
QLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTF
AAYTREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDP
WTNGSGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQV
DPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIH
FRLKTINLQSLINNEIPDCYTFSVLITFDNKAHSGRIPI
SLETQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLS
FLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEFV
NGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILL
GTSTLLVWVGVIRYLTFFHNYNILIATLRVALPSVMRFC
CCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLI
NGDDMFVTFAAMQAQQGRSSLVWLFSQLYLYSFISLFIY
MVLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQD
SPTSGKFRRGSGSACSLLCCCGRDPSEEHSLLVN

specificity :

Recognizes human MCOLN1.

purity :

Affinity Purified. Purified by Protein A affinity chromatography.

form :

Supplied as a liquid in PBS, pH 7.4.

concentration :

0.45mg/ml

storage stability :

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

tested application :

Western Blot (WB)

app notes :

Suitable for use in Western Blot.

image1 heading :

Western Blot (WB)

other info1 :

Immunogen: Full length protein corresponding to aa1-580 of human (NM_020533.1,(NP_065394.1).

products categories :

Antibodies; Abs to Ion Transport

products description :

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.

ncbi gi num :

10092597

ncbi acc num :

NP_065394.1

ncbi gb acc num :

NM_020533.2

uniprot acc num :

Q9GZU1

ncbi mol weight :

65,022 Da

ncbi pathways :

Iron Metabolism In Placenta Pathway (672461); Iron Uptake And Transport Pathway (187191); Lysosome Pathway (99052); Lysosome Pathway (96865); Transferrin Endocytosis And Recycling Pathway (187192); Transmembrane Transport Of Small Molecules Pathway (106572)

ncbi summary :

uniprot summary :

mucolipin 1: 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. Defects in MCOLN1 are the cause of mucolipidosis type IV (MLIV); also known as sialolipidosis. MLIV is 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. MLIV may be due to a defect in sorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews. Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily. Protein type: Transporter, ion channel; Channel, cation; Membrane protein, multi-pass; Membrane protein, integral. Chromosomal Location of Human Ortholog: 19p13.2. Cellular Component: integral to plasma membrane; late endosome membrane; lysosomal membrane; cytoplasm; plasma membrane; integral to membrane; endosome membrane; receptor complex. Molecular Function: cation channel activity. Biological Process: cellular iron ion homeostasis; release of sequestered calcium ion into cytosol; transferrin transport; transmembrane transport; cation transport. Disease: Mucolipidosis Iv

size1 :

0.05 mg

price1 :

580 USD

more info or order :

MyBioSource product webpage