MCOLN1 ELISA Kit for Human(Homo sapiens) | EIAab.comMCOLN1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > MCOLN1(Gene name) > Human

MCOLN1 (Gene name),

Mucolipin-1 (Protein name ), MCLN1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

MCOLN1(MSTP080;ML4);

Protein name:

Mucolipin-1;

Alternative:

Mucolipidin;MG-2;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Forms multimeric complexes.

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.

Subcellular Location:

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

Protein Attributes:

Sequence length:

580

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

580:

GKFRRGSGSA | CSLLCCCGRD | PSEEHSLLVN |

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

Pfam:

PF08016

String:

Q9GZU1

KEGG:

hsa:57192

MIM:

252650

STRING:

9606.ENSP00000264079

UniGene:

Hs.631858

Uniprot:

Q9GZU1

FOR

ELISA Kit for Human Mucolipin-1

CLIA Kit for Human Mucolipin-1

Polyclonal Antibody for Human Mucolipin-1

Monoclonal Antibody for Human Mucolipin-1

Protein for Human Mucolipin-1

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two major founder mutations causing mucolipidosis type IV."
Bassi M.T. , Manzoni M. , Monti E. , Pizzo M.T. , Ballabio A. , Borsani G.
Am. J. Hum. Genet.67:1110-1120(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];PROBABLE FUNCTION;TISSUE SPECIFICITY;SUBCELLULAR LOCATION;INVOLVEMENT IN MUCOLIPIDOSIS IV
2.

"Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel."
Sun M. , Goldin E. , Stahl S. , Falardeau J.L. , Kennedy J.C. , Acierno J.S. Jr. , Bove C. , Kaneski C.R. , Nagle J. , Bromley M.C. , Colman M. , Schiffmann R. , Slaugenhaupt S.A.
Hum. Mol. Genet.9:2471-2478(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA];TISSUE SPECIFICITY;VARIANTS MLIV TYR-362; PHE-408 DEL AND LEU-446
3.

"Identification of the gene causing mucolipidosis type IV."
Bargal R. , Avidan N. , Ben-Asher E. , Olender Z. , Zeigler M. , Frumkin A. , Raas-Rothschild A. , Glusman G. , Lancet D. , Bach G.
Nat. Genet.26:118-123(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];TISSUE SPECIFICITY;INVOLVEMENT IN MUCOLIPIDOSIS IV
4.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
5.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue: Brain.
7.

Xu H.S. , Sheng H. , Qin B.M. , Liu Y.Q. , Zhao B. , Liu B. , Wang X.Y. , Zhang Q. , Song L. , Gao Y. , Zhang C.L. , Ye J. , Ji X.J. , Liu B.H. , Lu H. , Chen J.Z. , Cai M.Q. , Zheng W.Y. , more...
Submitted (1999-07) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 391-580
tissue: Aorta.
8.

"Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway."
LaPlante J.M. , Falardeau J. , Sun M. , Kanazirska M. , Brown E.M. , Slaugenhaupt S.A. , Vassilev P.M.
FEBS Lett.532:183-187(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTIONAL CHARACTERIZATION;REGULATION BY CALCIUM;SUBCELLULAR LOCATION
9.

"Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization."
Manzoni M. , Monti E. , Bresciani R. , Bozzato A. , Barlati S. , Bassi M.T. , Borsani G.
FEBS Lett.567:219-224(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;CHARACTERIZATION OF VARIANTS MLIV PRO-232; PHE-408 DEL AND LEU-465
10.

"Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel."
Raychowdhury M.K. , Gonzalez-Perrett S. , Montalbetti N. , Timpanaro G.A. , Chasan B. , Goldmann W.H. , Stahl S. , Cooney A. , Goldin E. , Cantiello H.F.
Hum. Mol. Genet.13:617-627(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTIONAL CHARACTERIZATION;SUBUNIT;CHARACTERIZATION OF VARIANTS MLIV TYR-362; PHE-408 DEL AND LEU-446
11.

"Integral and associated lysosomal membrane proteins."
Schroeder B. , Wrocklage C. , Pan C. , Jaeger R. , Koesters B. , Schaefer H. , Elsaesser H.-P. , Mann M. , Hasilik A.
Traffic8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]
tissue: Placenta.
12.

"Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1."
Vergarajauregui S. , Martina J.A. , Puertollano R.
J. Biol. Chem.284:36357-36366(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH PDCD6;MUTAGENESIS OF ARG-44; LEU-45; 44-ARG--LYS-46 AND 47-TYR--PHE-49
13.

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-230
tissue: Liver.
14.

"Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population."
Bargal R. , Avidan N. , Olender Z. , Ben-Asher E. , Zeigler M. , Raas-Rothschild A. , Frumkin A. , Ben-Yoseph O. , Friedlender Y. , Lancet D. , Bach G.
Hum. Mutat.17:397-402(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MLIV PRO-232; PHE-408 DEL AND LEU-465
15.

"The neurogenetics of mucolipidosis type IV."
Altarescu G. , Sun M. , Moore D.F. , Smith J.A. , Wiggs E.A. , Solomon B.I. , Patronas N.J. , Frei K.P. , Gupta S. , Kaneski C.R. , Quarrell O.W. , Slaugenhaupt S.A. , Goldin E. , Schiffmann R.
Neurology59:306-313(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MLIV PRO-106; TYR-362; PHE-408 DEL AND PRO-447
16.

"Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV."
Goldin E. , Stahl S. , Cooney A.M. , Kaneski C.R. , Gupta S. , Brady R.O. , Ellis J.R. , Schiffmann R.
Hum. Mutat.24:460-465(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MLIV CYS-403
17.

"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T. , Jones S. , Wood L.D. , Parsons D.W. , Lin J. , Barber T.D. , Mandelker D. , Leary R.J. , Ptak J. , Silliman N. , Szabo S. , Buckhaults P. , Farrell C. , Meeh P. , Markowitz S.D. , Willis J. , Dawson D. , Willson J.K.V. , more...
Science314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-331

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