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

    Gene ID: 399671, updated on 2-Nov-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, Nov 2024]
    Expression
    Biased expression in testis (RPKM 3.3), duodenum (RPKM 0.3) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HEATR4 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73478484..73633814, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67686435..67841868, complement)
    RS_2024_09 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 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_2024_08

    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

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