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DRICH1 aspartate rich 1 [ Homo sapiens (human) ]

Gene ID: 51233, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23580880..23632816, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24028091..24084878, complement)
105.20220307 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)

Genotypes

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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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_2023_10

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

Gene LinkOut

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