U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DEFT1P defensin theta 1, pseudogene [ Homo sapiens (human) ]

Gene ID: 170949, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Official Symbol
DEFT1Pprovided by HGNC
Official Full Name
defensin theta 1, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:18339
See related
AllianceGenome:HGNC:18339
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
DEFQ1; DEFT1
Expression
Restricted expression toward bone marrow (RPKM 1.1) See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
8p23.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (6987178..6989721, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6741845..6744387, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6844700..6847243, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin alpha 10, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6828716-6829216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6829217-6829717 Neighboring gene uncharacterized LOC124901873 Neighboring gene defensin alpha 1 Neighboring gene uncharacterized LOC124901874 Neighboring gene defensin alpha 1B Neighboring gene defensin theta 1, pseudogene 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. α-defensin 1-3 and α-defensin 4 as predictive markers of imatinib resistance and relapse in CML patients. Etienne G, et al. Dis Markers, 2011. PMID 21734341, Free PMC Article
  2. Evolution of primate theta-defensins: a serpentine path to a sweet tooth. Nguyen TX, et al. Peptides, 2003 Nov. PMID 15019196
  3. Retrocyclin: a primate peptide that protects cells from infection by T- and M-tropic strains of HIV-1. Cole AM, et al. Proc Natl Acad Sci U S A, 2002 Feb 19. PMID 11854483, Free PMC Article
  4. Defensins of vertebrate animals. Lehrer RI, et al. Curr Opin Immunol, 2002 Feb. PMID 11790538
  5. Current status of defensins and their role in innate and adaptive immunity. Raj PA, et al. FEMS Microbiol Lett, 2002 Jan 2. PMID 11786250

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DEFA1-3 and DEFA4 mRNA level in peripheral blood cells can be used to identify chronic myeloid leukaemia patients who are at risk of being imatinib-resistant, before initiation of the therapy.
    Title: α-defensin 1-3 and α-defensin 4 as predictive markers of imatinib resistance and relapse in CML patients.
  2. HNP-1 (alpha), HBD-2 (beta) and RTD-1 (theta) have anti-HIV-1 activity, but different mechanisms of action
    Title: Cyclic and acyclic defensins inhibit human immunodeficiency virus type-1 replication by different mechanisms.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

Go to the top of the page Help

Other Names

  • circular minidefensin
  • defensin-related pseudogene
  • demidefensin
  • pro-retrocyclin
  • retrocyclin pseudogene

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

RNA

  1. NR_036686.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF233439, AF355799

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    6987178..6989721 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    382297..384838 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    6741845..6744387 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_005042.2: Suppressed sequence

    Description
    NG_005042.2: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.

  2. NM_139127.2: Suppressed sequence

    Description
    NM_139127.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.