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HEATR9 HEAT repeat containing 9 [ Homo sapiens (human) ]

Gene ID: 256957, updated on 5-Mar-2024

Summary

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Official Symbol
HEATR9provided by HGNC
Official Full Name
HEAT repeat containing 9provided by HGNC
Primary source
HGNC:HGNC:26548
See related
Ensembl:ENSG00000270379 AllianceGenome:HGNC:26548
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
C17orf66
Summary
Predicted to act upstream of or within hematopoietic progenitor cell differentiation. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 5.0) See more
Orthologs
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Genomic context

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See HEATR9 in Genome Data Viewer
Location:
17q12
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35854955..35868891, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36802865..36816799, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34181959..34195895, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34092667-34093167 Neighboring gene chromosome 17 open reading frame 50 Neighboring gene matrix metallopeptidase 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34121971-34122509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:34136503-34137204 Neighboring gene TATA-box binding protein associated factor 15 Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene uncharacterized LOC105371745 Neighboring gene C-C motif chemokine ligand 5 Neighboring gene MPRA-validated peak2821 silencer Neighboring gene leucine rich repeat containing 37 member A8, pseudogene

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. Heatr9 is an infection responsive gene that affects cytokine production in alveolar epithelial cells. Stairiker CJ, et al. PLoS One, 2020. PMID 32678841, Free PMC Article
  2. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (7) 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

  • FLJ32830

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein HEATR9
Names
HEAT repeat-containing protein 9

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_001321395.2 → NP_001308324.1  protein HEATR9 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK057392, AK301943, DB090576
    Consensus CDS
    CCDS82108.1
    UniProtKB/Swiss-Prot
    A2RTY3
    Related
    ENSP00000473760.1, ENST00000603870.5
    Conserved Domains (1) summary
    pfam13646
    Location:334 → 421
    HEAT_2; HEAT repeats

  2. NM_152781.4 → NP_689994.2  protein HEATR9 isoform 1

    See identical proteins and their annotated locations for NP_689994.2

    Status: VALIDATED

    Source sequence(s)
    AK057392, BC033734, BX114438, DB090576
    Consensus CDS
    CCDS11299.1
    UniProtKB/Swiss-Prot
    A2RTY3, B4DX21, B4DXA4, B4DXF0, Q8N4R4, Q96M46
    Related
    ENSP00000473941.1, ENST00000604834.6
    Conserved Domains (1) summary
    pfam13646
    Location:374 → 461
    HEAT_2; HEAT repeats

RNA

  1. NR_135630.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK057392, AK301943, BC144011, DB090576
    Related
    ENST00000603323.5

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    35854955..35868891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005278233.3 → XP_005278290.1  protein HEATR9 isoform X1

    See identical proteins and their annotated locations for XP_005278290.1

    Conserved Domains (1) summary
    pfam13646
    Location:340 → 427
    HEAT_2; HEAT repeats

  2. XM_006721802.4 → XP_006721865.1  protein HEATR9 isoform X2

    See identical proteins and their annotated locations for XP_006721865.1

RNA

  1. XR_934434.2 RNA Sequence

    Related
    ENST00000605080.5

  2. XR_934432.4 RNA Sequence

    Related
    ENST00000603852.5

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    89487..103423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329277.1 → XP_054185252.1  protein HEATR9 isoform X3

  2. XM_054329278.1 → XP_054185253.1  protein HEATR9 isoform X1

  3. XM_054329279.1 → XP_054185254.1  protein HEATR9 isoform X2

RNA

  1. XR_008485630.1 RNA Sequence

  2. XR_008485629.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    36802865..36816799 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315653.1 → XP_054171628.1  protein HEATR9 isoform X4

  2. XM_054315654.1 → XP_054171629.1  protein HEATR9 isoform X1

  3. XM_054315655.1 → XP_054171630.1  protein HEATR9 isoform X2

RNA

  1. XR_008484804.1 RNA Sequence

  2. XR_008484803.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2RTY3.2 GenPept UniProtKB/Swiss-Prot:A2RTY3

Gene LinkOut

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

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