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ALMS1P1 ALMS1 pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 200420, updated on 25-Oct-2022

Summary

Official Symbol
ALMS1P1provided by HGNC
Official Full Name
ALMS1 pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:29586
See related
Ensembl:ENSG00000290727 AllianceGenome:HGNC:29586
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALMS1L; ALMS1P
Expression
Low expression observed in reference dataset See more
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Genomic context

See ALMS1P1 in Genome Data Viewer
Location:
2p13.1
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73644919..73685572)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73657993..73698673)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73872046..73912699)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ALMS1 centrosome and basal body associated protein Neighboring gene ALMS1 intronic transcript 1 Neighboring gene N-acetyltransferase 8 (putative) Neighboring gene uncharacterized LOC112268418 Neighboring gene N-acetyltransferase 8B (putative, gene/pseudogene)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genetic loci influencing kidney function and chronic kidney disease.
EBI GWAS Catalog
Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.
EBI GWAS Catalog

General gene information

Markers

Other Names

  • ALMS1, centrosome and basal body associated protein pseudogene 1
  • Alstrom syndrome 1 pseudogene

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_003683.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC092653, BC014492
    Related
    ENST00000450720.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    73644919..73685572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791766.1 Reference GRCh38.p14 PATCHES

    Range
    314417..355070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    73657993..73698673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145300.1: Suppressed sequence

    Description
    NM_145300.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.