ALMS1 ELISA Kit for Human(Homo sapiens) | EIAab.comALMS1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > ALMS1(Gene name) > Human

ALMS1 (Gene name),

Alstrom syndrome protein 1 (Protein name ), ALMS1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

ALMS1(KIAA0328);

Protein name:

Alstrom syndrome protein 1;

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.

Subcellular Location:

Cytoplasm Cytoplasm cytoskeleton centrosome Cytoplasm cytoskeleton cilium basal body Cytoplasm cytoskeleton spindle pole Associated with centrosomes and basal bodies at the base of primary cilia. Specifically locates to the proximal ends of centrioles and basal bodies. Colocalizes partially with NCAPD2 at these sites. During mitosis localizes to both spindle poles.

Protein Attributes:

Sequence length:

4167

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YKKRVTNQLL | GRKVPWD

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

MIM:

203800

String:

Q8TCU4

UniGene:

Hs.184720

KEGG:

hsa:7840

STRING:

9606.ENSP00000264448

Uniprot:

Q8TCU4

FOR

ELISA Kit for Human Alstrom syndrome protein 1

CLIA Kit for Human Alstrom syndrome protein 1

Polyclonal Antibody for Human Alstrom syndrome protein 1

Monoclonal Antibody for Human Alstrom syndrome protein 1

Protein for Human Alstrom syndrome protein 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.

"Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome."
Hearn T. , Renforth G.L. , Spalluto C. , Hanley N.A. , Piper K. , Brickwood S. , White C. , Connolly V. , Taylor J.F.N. , Russell-Eggitt I. , Bonneau D. , Walker M. , Wilson D.I.
Nat. Genet.31:79-83(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANTS GLY-671 AND ARG-2111; INVOLVEMENT IN ALSTROM SYNDROME;TISSUE SPECIFICITY;DEVELOPMENTAL STAGE
tissue: Lymphoblast.
2.

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , more...
Nature434:724-731(2005) [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 GENOMIC DNA]
3.

"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
Nagase T. , Ishikawa K. , Nakajima D. , Ohira M. , Seki N. , Miyajima N. , Tanaka A. , Kotani H. , Nomura N. , Ohara O.
DNA Res.4:141-150(1997) [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] OF 2066-4167 (ISOFORM 2)
tissue: Brain.
4.

"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D. , Okazaki N. , Yamakawa H. , Kikuno R. , Ohara O. , Nagase T.
DNA Res.9:99-106(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: SEQUENCE REVISION
5.

"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] OF 2400-4167 (ISOFORM 3);VARIANTS ASN-2574 AND HIS-2672
tissue: Testis.
6.

"Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome."
Collin G.B. , Marshall J.D. , Ikeda A. , So W.V. , Russell-Eggitt I. , Maffei P. , Beck S. , Boerkoel C. , Sicolo N. , Martin M. , Nishina P.M. , Naggert J.K.
Nat. Genet.31:74-78(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: INVOLVEMENT IN ALSTROM SYNDROME;TISSUE SPECIFICITY;DEVELOPMENTAL STAGE
7.

"Proteomic characterization of the human centrosome by protein correlation profiling."
Andersen J.S. , Wilkinson C.J. , Mayor T. , Mortensen P. , Nigg E.A. , Mann M.
Nature426:570-574(2003) [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: Lymphoblast.
8.

"Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes."
Hearn T. , Spalluto C. , Phillips V.J. , Renforth G.L. , Copin N. , Hanley N.A. , Wilson D.I.
Diabetes54:1581-1587(2005) [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;POSSIBLE FUNCTION
9.

"Cep164, a novel centriole appendage protein required for primary cilium formation."
Graser S. , Stierhof Y.-D. , Lavoie S.B. , Gassner O.S. , Lamla S. , Le Clech M. , Nigg E.A.
J. Cell Biol.179:321-330(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: FUNCTION
10.

"A quantitative atlas of mitotic phosphorylation."
Dephoure N. , Zhou C. , Villen J. , Beausoleil S.A. , Bakalarski C.E. , Elledge S.J. , Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(2008) [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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
11.

"Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731."
Knorz V.J. , Spalluto C. , Lessard M. , Purvis T.L. , Adigun F.F. , Collin G.B. , Hanley N.A. , Wilson D.I. , Hearn T.
Mol. Biol. Cell21:3617-3629(2010) [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;POSSIBLE FUNCTION
12.

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
Sci. Signal.3:RA3-RA3(2010) [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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2631;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
13.

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P. , Lasa M. , Polevoda B. , Gazquez C. , Elosegui-Artola A. , Kim D.S. , De Juan-Pardo E. , Demeyer K. , Hole K. , Larrea E. , Timmerman E. , Prieto J. , Arnesen T. , Sherman F. , Gevaert K. , Aldabe R.
Proc. Natl. Acad. Sci. U.S.A.109:12449-12454(2012) [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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]

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