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Aliases for ALMS1P Gene

Aliases for ALMS1P Gene

  • Alstrom Syndrome 1 Pseudogene 2 3
  • ALMS1L 3 4
  • Alstrom Syndrome 1-Like 2

External Ids for ALMS1P Gene

Previous HGNC Symbols for ALMS1P Gene

  • ALMS1L

Previous GeneCards Identifiers for ALMS1P Gene

  • GC02P073721
  • GC02P073868
  • GC02P073872

Summaries for ALMS1P Gene

GeneCards Summary for ALMS1P Gene

ALMS1P (Alstrom Syndrome 1 Pseudogene) is a Pseudogene. Diseases associated with ALMS1P include alstrom syndrome.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALMS1P Gene

Genomics for ALMS1P Gene

Regulatory Elements for ALMS1P Gene

Genomic Location for ALMS1P Gene

Chromosome:
2
Start:
73,644,919 bp from pter
End:
73,685,576 bp from pter
Size:
40,658 bases
Orientation:
Plus strand

Genomic View for ALMS1P Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALMS1P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALMS1P Gene

Proteins for ALMS1P Gene

  • Protein details for ALMS1P Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L16-ALM1L_HUMAN
    Recommended name:
    Putative ALMS1-like protein
    Protein Accession:
    Q96L16

    Protein attributes for ALMS1P Gene

    Size:
    210 amino acids
    Molecular mass:
    24624 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The protein is highly similar to the C-terminus of ALMS1

neXtProt entry for ALMS1P Gene

Proteomics data for ALMS1P Gene at MOPED

Post-translational modifications for ALMS1P Gene

No Post-translational modifications

No data available for DME Specific Peptides for ALMS1P Gene

Domains & Families for ALMS1P Gene

Protein Domains for ALMS1P Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALMS1P Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ALMS1P: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ALMS1P Gene

Function for ALMS1P Gene

Phenotypes for ALMS1P Gene

GenomeRNAi human phenotypes for ALMS1P:
genes like me logo Genes that share phenotypes with ALMS1P: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALMS1P Gene

Localization for ALMS1P Gene

Gene Ontology (GO) - Cellular Components for ALMS1P Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IEA --
genes like me logo Genes that share ontologies with ALMS1P: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for ALMS1P Gene

Pathways & Interactions for ALMS1P Gene

SuperPathways for ALMS1P Gene

No Data Available

Interacting Proteins for ALMS1P Gene

Gene Ontology (GO) - Biological Process for ALMS1P Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ALMS1P Gene

Drugs & Compounds for ALMS1P Gene

No Compound Related Data Available

Transcripts for ALMS1P Gene

mRNA/cDNA for ALMS1P Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALMS1P Gene

Alstrom syndrome 1 pseudogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALMS1P Gene

No ASD Table

Relevant External Links for ALMS1P Gene

GeneLoc Exon Structure for
ALMS1P
ECgene alternative splicing isoforms for
ALMS1P

Expression for ALMS1P Gene

mRNA expression in normal human tissues for ALMS1P Gene

SOURCE GeneReport for Unigene cluster for ALMS1P Gene Hs.745426

genes like me logo Genes that share expression patterns with ALMS1P: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ALMS1P Gene

Orthologs for ALMS1P Gene

Evolution for ALMS1P Gene

ENSEMBL:
Gene Tree for ALMS1P (if available)
TreeFam:
Gene Tree for ALMS1P (if available)

No data available for Orthologs for ALMS1P Gene

Paralogs for ALMS1P Gene

(1) SIMAP similar genes for ALMS1P Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ALMS1P: view

No data available for Paralogs for ALMS1P Gene

Variants for ALMS1P Gene

Sequence variations from dbSNP and Humsavar for ALMS1P Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1344045 -- 73,671,334(-) CACTT(C/T)CCTAC intron-variant
rs2421574 -- 73,681,640(+) AATCA(C/G)GTCAT intron-variant
rs2421579 -- 73,660,535(+) cctcc(A/T)ccttt intron-variant
rs2421580 -- 73,660,538(+) cctcc(C/G/T)ttcct intron-variant
rs2421581 -- 73,662,610(+) attct(A/G)tgtaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALMS1P Gene

Variant ID Type Subtype PubMed ID
dgv1197e1 CNV Complex 17122850
essv105 CNV CNV 17122850
dgv4163n71 CNV Loss 21882294
nsv874276 CNV Loss 21882294
esv2720207 CNV Deletion 23290073
esv2497164 CNV Deletion 19546169
dgv707e199 CNV Deletion 23128226
nsv829460 CNV Gain 20364138
nsv818044 CNV Gain 17921354
nsv515605 CNV Loss 19592680
dgv4164n71 CNV Gain 21882294
nsv441760 CNV CNV 18776908
nsv436746 CNV Insertion 17901297
nsv829461 CNV Gain 20364138
nsv874282 CNV Loss 21882294
nsv818046 CNV Loss 17921354
nsv818047 CNV Gain 17921354
esv34157 CNV Loss 18971310
nsv834260 CNV Gain 17160897

Relevant External Links for ALMS1P Gene

HapMap Linkage Disequilibrium report
ALMS1P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ALMS1P Gene

Disorders for ALMS1P Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALMS1P Gene - From: GeneCards

Disorder Aliases PubMed IDs
alstrom syndrome
  • alström syndrome
- elite association

Relevant External Links for ALMS1P

Genetic Association Database (GAD)
ALMS1P
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALMS1P
genes like me logo Genes that share disorders with ALMS1P: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALMS1P Gene

Publications for ALMS1P Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 67
  2. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 67
  3. Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. (PMID: 23535967) Tin A. … Kao W.H. (J. Hum. Genet. 2013) 67
  4. Genetic loci influencing kidney function and chronic kidney disease. (PMID: 20383145) Chambers J.C. … Kooner J.S. (Nat. Genet. 2010) 67
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 67

Products for ALMS1P Gene

Sources for ALMS1P Gene

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