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HEATR4 HEAT repeat containing 4 [ Homo sapiens (human) ]

Gene ID: 399671, updated on 8-Mar-2024

Summary

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Official Symbol
HEATR4provided by HGNC
Official Full Name
HEAT repeat containing 4provided by HGNC
Primary source
HGNC:HGNC:16761
See related
Ensembl:ENSG00000187105 AllianceGenome:HGNC:16761
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
Summary
Predicted to enable oxidoreductase activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 3.3), duodenum (RPKM 0.3) and 12 other tissues See more
Orthologs
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Genomic context

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Location:
14q24.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73478484..73633814, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67686435..67841868, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73945189..74025651, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73743236-73743736 Neighboring gene NUMB endocytic adaptor protein Neighboring gene NANOG hESC enhancer GRCh37_chr14:73864401-73864904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5910 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:73925581-73926114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:73926115-73926648 Neighboring gene uncharacterized LOC101928143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73956718-73957623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5911 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73958602-73959102 Neighboring gene uncharacterized LOC124903344 Neighboring gene acyl-CoA thioesterase 1 Neighboring gene ribosomal oxygenase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr14:74020474-74020986 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74033223-74033740 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:74034134-74035333 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36532 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8703 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:74058811-74059310 Neighboring gene tRNA-Lys (TTT) 14-1 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 1 Neighboring gene acyl-CoA thioesterase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:74079399-74079898 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:74080557-74080801 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:74083421-74084009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8706 Neighboring gene acyl-CoA thioesterase 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36549 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36559 Neighboring gene acyl-CoA thioesterase 6 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36561 Neighboring gene Sharpr-MPRA regulatory region 2817 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36567 Neighboring gene RNA, U6 small nuclear 240, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36575 Neighboring gene dynein axonemal light chain 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5914 Neighboring gene PNMA family member 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. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. Li J, et al. Mol Cell Proteomics, 2010 Nov. PMID 20736409, Free PMC Article
  2. An atlas of genetic influences on human blood metabolites. Shin SY, et al. Nat Genet, 2014 Jun. PMID 24816252, Free PMC Article
  3. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
  4. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
  5. 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

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog

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

  • MGC48595

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
HEAT repeat-containing protein 4

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_001220484.1 → NP_001207413.1  HEAT repeat-containing protein 4

    See identical proteins and their annotated locations for NP_001207413.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005225, AC005280, AK302564
    Consensus CDS
    CCDS9815.2
    UniProtKB/Swiss-Prot
    B7Z7V9, E9KL41, Q86WZ0
    Related
    ENSP00000450444.2, ENST00000553558.6
    Conserved Domains (2) summary
    sd00044
    Location:666 → 694
    HEAT; HEAT repeat [structural motif]
    pfam13646
    Location:767 → 847
    HEAT_2; HEAT repeats

  2. NM_203309.2 → NP_976054.2  HEAT repeat-containing protein 4

    See identical proteins and their annotated locations for NP_976054.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005225, AC005280, BC047590
    Consensus CDS
    CCDS9815.2
    UniProtKB/Swiss-Prot
    B7Z7V9, E9KL41, Q86WZ0
    Related
    ENSP00000335447.2, ENST00000334988.2
    Conserved Domains (2) summary
    sd00044
    Location:666 → 694
    HEAT; HEAT repeat [structural motif]
    pfam13646
    Location:767 → 847
    HEAT_2; HEAT repeats

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    73478484..73633814 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431370.1 → XP_047287326.1  HEAT repeat-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    B7Z7V9, E9KL41, Q86WZ0

  2. XM_047431371.1 → XP_047287327.1  HEAT repeat-containing protein 4 isoform X4

  3. XM_024449582.2 → XP_024305350.1  HEAT repeat-containing protein 4 isoform X2

    Conserved Domains (2) summary
    sd00044
    Location:483 → 504
    HEAT; HEAT repeat [structural motif]
    pfam02985
    Location:530 → 559
    HEAT; HEAT repeat

  4. XM_011536761.4 → XP_011535063.1  HEAT repeat-containing protein 4 isoform X3

    Conserved Domains (1) summary
    pfam02985
    Location:530 → 559
    HEAT; HEAT repeat

RNA

  1. XR_002957552.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    67686435..67841868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376042.1 → XP_054232017.1  HEAT repeat-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    B7Z7V9, E9KL41, Q86WZ0

  2. XM_054376041.1 → XP_054232016.1  HEAT repeat-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    B7Z7V9, E9KL41, Q86WZ0

  3. XM_054376043.1 → XP_054232018.1  HEAT repeat-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    B7Z7V9, E9KL41, Q86WZ0

  4. XM_054376046.1 → XP_054232021.1  HEAT repeat-containing protein 4 isoform X4

  5. XM_054376044.1 → XP_054232019.1  HEAT repeat-containing protein 4 isoform X2

  6. XM_054376045.1 → XP_054232020.1  HEAT repeat-containing protein 4 isoform X3

RNA

  1. XR_008488869.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86WZ0.2 GenPept UniProtKB/Swiss-Prot:Q86WZ0

Gene LinkOut

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