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    DRICH1 aspartate rich 1 [ Homo sapiens (human) ]

    Gene ID: 51233, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DRICH1provided by HGNC
    Official Full Name
    aspartate rich 1provided by HGNC
    Primary source
    HGNC:HGNC:28031
    See related
    Ensembl:ENSG00000189269 AllianceGenome:HGNC:28031
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C22orf43; KB-208E9.1
    Expression
    Biased expression in testis (RPKM 7.4) and kidney (RPKM 0.4) See more
    Orthologs
    all
    NEW
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    Try the new Transcript table

    Genomic context

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    See DRICH1 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23580880..23632816, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24028091..24084878, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23950639..23974508, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372957 Neighboring gene immunoglobulin lambda like polypeptide 1 Neighboring gene uncharacterized LOC124905089 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:23975547-23975684 Neighboring gene GUSB pseudogene 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23991555-23992054 Neighboring gene argininosuccinate lyase pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Essential Gene Profiles for Human Pluripotent Stem Cells Identify Uncharacterized Genes and Substrate Dependencies. Mair B, et al. Cell Rep, 2019 Apr 9. PMID 30970261
    2. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article
    4. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33025, MGC75009

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    aspartate-rich protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_016449.4 → NP_057533.2  aspartate-rich protein 1

      See identical proteins and their annotated locations for NP_057533.2

      Status: VALIDATED

      Source sequence(s)
      BC056888, DB052993
      Consensus CDS
      CCDS42985.1
      UniProtKB/Swiss-Prot
      Q6ICJ8, Q6P4I3, Q6PGQ1, Q9NU31
      Related
      ENSP00000316137.5, ENST00000317749.9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      23580880..23632816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530210.3 → XP_011528512.1  aspartate-rich protein 1 isoform X4

    2. XM_011530209.3 → XP_011528511.1  aspartate-rich protein 1 isoform X3

    3. XM_011530208.3 → XP_011528510.1  aspartate-rich protein 1 isoform X2

    4. XM_011530206.2 → XP_011528508.1  aspartate-rich protein 1 isoform X1

    5. XM_047441388.1 → XP_047297344.1  aspartate-rich protein 1 isoform X1

    6. XM_017028813.1 → XP_016884302.1  aspartate-rich protein 1 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      24028091..24084878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325666.1 → XP_054181641.1  aspartate-rich protein 1 isoform X6

    2. XM_054325669.1 → XP_054181644.1  aspartate-rich protein 1 isoform X4

    3. XM_054325668.1 → XP_054181643.1  aspartate-rich protein 1 isoform X3

    4. XM_054325667.1 → XP_054181642.1  aspartate-rich protein 1 isoform X2

    5. XM_054325665.1 → XP_054181640.1  aspartate-rich protein 1 isoform X1

    6. XM_054325664.1 → XP_054181639.1  aspartate-rich protein 1 isoform X1

    7. XM_054325670.1 → XP_054181645.1  aspartate-rich protein 1 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PGQ1.1 GenPept UniProtKB/Swiss-Prot:Q6PGQ1

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