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Aliases & Descriptions for ALMS1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ALSS 2, 5 | | DKFZp686A118 2 | | DKFZp686D1828 2 | | KIAA0328 1, 2, 3, 5 |
| | | Descriptions |
|---|
| Alstrom syndrome 1 2 |
|
| | Search outside databases for aliases for ALMS1 genePrevious GC identifers: GC02P073622 GC02P073823 GC02P073587 GC02P073524 |
Summaries for ALMS1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ALMS1: This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined. UniProtKB/Swiss-Prot: ALMS1_HUMAN, Q8TCU4Function: Possible role in intracellular trafficking (By similarity) |
Genomic Location for ALMS1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ALMS1 gene 
Entrez Gene cytogenetic band: 2p13 Ensembl cytogenetic band: 2p13.2 HGNC cytogenetic band: 2p13.1ALMS1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P073466:
(about GC identifiers)
Start:
|
73,466,394 bp from pter |
End:
|
73,690,554 bp from pter |
Size:
|
224,161 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000002.10 NT_022184.14
| Proteins for ALMS1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ALMS1_HUMAN, Q8TCU4 (See
protein sequence)Recommended Name: Alstrom syndrome protein 1 Size: 4167 amino acids; 460937 Da
Subcellular location: Cytoplasm. Centrosome. Cell projection, cilium basal body. Note=Associated with centrosomes and basal body at the base of primary cilia. During mitosis localizes to both spindle poles
Developmental stage: Widely expressed in fetal tissues. Detected in fetal pancreas, skeletal muscle, liver, kidney and brain (at protein level). Expressed in fetal aorta and brain
Secondary accessions: Q53S05 Q580Q8 Q86VP9 Q9Y4G4Alternative splicing: 3 isoforms: Q8TCU4-1 Q8TCU4-2 Q8TCU4-3 Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_055935.4
ENSEMBL proteins: ENSP00000366944 ENSP00000264448 ENSP00000386627
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ALMS1: Assays for ALMS1: | Protein
Domains/ Families for ALMS1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q8TCU4 | Gene Function for ALMS1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015120
Applied Biosystems Silencer® siRNAs for ALMS1
Sigma-Aldrich siRNA for ALMS1  Sigma-Aldrich shRNA for ALMS1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_015120                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_015120                                  untagged cDNA clone in CMV expression vector: NM_015120 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_015120
UniProtKB/Swiss-Prot: ALMS1_HUMAN, Q8TCU4Function: Possible role in intracellular trafficking (By similarity)13 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Alms1):
1 Gene Ontology (GO) molecular function term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | About this table | Pathways & Interactions for ALMS1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/65 Interacting proteins for ALMS1 (ENSP000002644483) via UniProtKB, MINT, and/or STRING (see all 65
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007601 | visual perception |
IEA | -- | | GO:0007605 | sensory perception of sound |
IEA | -- | | GO:0050896 | response to stimulus |
IEA | -- | About this table
|
Drugs & Compounds for ALMS1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for ALMS1
|
Transcripts for ALMS1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015120
Sigma-Aldrich siRNA for ALMS1  Sigma-Aldrich shRNA for ALMS1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_015120 REFSEQ mRNAs for ALMS1 gene: NM_015120.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_015120               OriGene GFP tagged cDNA clone in CMV expression vector: NM_015120                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_015120                                  untagged cDNA clone in CMV expression vector: NM_015120  Additional cDNA sequence: AB002326.3 AJ417593.2 AL833495.1 BC035025.2 BC050330.1 BX647706.1 BX648632.1 EF151141.1 13 DOTS entries: DT.314966 DT.75155839 DT.100816254 DT.92422157 DT.100036543 DT.100671819 DT.99997664 DT.100036545 DT.101963353 DT.121008213 DT.121008226 DT.92422155 DT.95299663 24/146 AceView cDNA sequences (see all 146
):AA393282 AW473187 AL044729 BM875441 AI741793 AL704019 AI425117 AL135493 AL041387 BQ017018 NM_015120 AW386108 BM723326 F12602 BC035025 BE891274 AL041386 BQ889511 F10219 BU154288 BM875692 AL833495 BP369149 AJ417593
highest scoring ESTs for ALMS1:AA425065 AA749051 AA887964 AA913775 AA961070 AB002326 AI223186 AI333124 AI425117 AI452997 Unigene Cluster for ALMS1: Alstrom syndrome 1 Hs.184720 [show with all ESTs]Unigene Representative Sequence: AJ417593
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ALMS1 (see all 8
)
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 19b | · | 19c | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | |
| SP1: | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |
| SP2: | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for ALMS1
3 Ensembl transcripts including schematic representations: ENST00000377715
ENST00000264448
ENST00000409009
|
Expression for ALMS1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ALMS1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ALMS1
1 / 2 / 3 9 probe-sets matching ALMS1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGTATTTTAG
SOURCE GeneReport for Unigene cluster: Hs.184720
Expression variation in blood from EXPOLDB for ALMS1 UniProtKB/Swiss-Prot: ALMS1_HUMAN, Q8TCU4Tissue specificity: Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level) |
Orthologs for ALMS1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ALMS1 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for ALMS1
ENSEMBL Gene Tree for ALMS1 | Paralogs for ALMS1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ALMS1 gene
- ALMS1P2
|
SNPs/Variants for ALMS1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ALMS1 (up to first 250kb)
|
Disorders & Mutations for ALMS1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 606844 disorders: 203800 UniProtKB/Swiss-Prot: ALMS1_HUMAN, Q8TCU4
Defects in ALMS1 are the cause of Alstrom syndrome (ALMS) [MIM:203800]. Alstrom syndrome is a rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and type 2 diabetes mellitus. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndromeGeneTests: ALMS1 Alstrom Syndrome Human Gene Mutation Database: ALMS1 Human Genome Epidemiology Navigator: ALMS1 (2 documents)
|
Medical News for ALMS1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ALMS1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/22 PubMed articles for ALMS1 gene (see all 22
):- Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. (PubMed id 11941370)1, 3, 4 Hearn T.... Wilson D.I. (2002)
- Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. (PubMed id 11941369)1, 3, 4 Collin G.B....Naggert J.K. (2002)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)3, 4 Hillier L.W....Wilson R.K. (2005)
- Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. (PubMed id 15855349)3, 4 Hearn T.... Wilson D.I. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)3, 4 Andersen J.S....Mann M. (2003)
- Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)3, 4 Nakajima D.... Nagase T. (2002)
- 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. (PubMed id 9205841)3, 4 Nagase T....Ohara O. (1997)
- Homozygosity mapping at Alstrom syndrome to chromosome 2p. (PubMed id 9063741)2, 3 Collin G.B....Nishina P.M. (1997)
- Regulation of Alstrom syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity. (PubMed id 18506366)1, 3 Romano S....Vettor R. (2008)
|
Search for ALMS1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ALMS1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ALMS1
(According to HUGE)
About This Section
| |
Specialized Databases showing ALMS1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=ALMS1 |
|
| | | About This Section
| --
| Services for ALMS1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ALMS1:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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