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

Gene ID: 399671, updated on 11-Jun-2021

Summary

Official Symbol
HEATR4provided by HGNC
Official Full Name
HEAT repeat containing 4provided by HGNC
Primary source
HGNC:HGNC:16761
See related
Ensembl:ENSG00000187105
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
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

See HEATR4 in Genome Data Viewer
Location:
14q24.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (73478484..73558947, complement)
105.20201022 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 NUMB endocytic adaptor protein Neighboring gene uncharacterized LOC101928143 Neighboring gene ribosomal oxygenase 1 Neighboring gene acyl-CoA thioesterase 1 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 2 Neighboring gene tRNA-Lys (TTT) 14-1 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 1 Neighboring gene acyl-CoA thioesterase 2

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 

General protein information

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_001220484.1NP_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
    Q86WZ0
    Related
    ENSP00000450444.2, ENST00000553558.6
    Conserved Domains (2) summary
    sd00044
    Location:666694
    HEAT; HEAT repeat [structural motif]
    pfam13646
    Location:767847
    HEAT_2; HEAT repeats
  2. NM_203309.2NP_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
    Q86WZ0
    Related
    ENSP00000335447.2, ENST00000334988.2
    Conserved Domains (2) summary
    sd00044
    Location:666694
    HEAT; HEAT repeat [structural motif]
    pfam13646
    Location:767847
    HEAT_2; HEAT repeats

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    73478484..73558947 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449581.1XP_024305349.1  HEAT repeat-containing protein 4 isoform X1

    Conserved Domains (2) summary
    sd00044
    Location:666694
    HEAT; HEAT repeat [structural motif]
    pfam13646
    Location:767847
    HEAT_2; HEAT repeats
  2. XM_024449580.1XP_024305348.1  HEAT repeat-containing protein 4 isoform X1

    Conserved Domains (2) summary
    sd00044
    Location:666694
    HEAT; HEAT repeat [structural motif]
    pfam13646
    Location:767847
    HEAT_2; HEAT repeats
  3. XM_011536760.3XP_011535062.1  HEAT repeat-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011535062.1

    UniProtKB/Swiss-Prot
    Q86WZ0
    Conserved Domains (2) summary
    sd00044
    Location:666694
    HEAT; HEAT repeat [structural motif]
    pfam13646
    Location:767847
    HEAT_2; HEAT repeats
  4. XM_006720143.2XP_006720206.1  HEAT repeat-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006720206.1

    UniProtKB/Swiss-Prot
    Q86WZ0
    Conserved Domains (2) summary
    sd00044
    Location:666694
    HEAT; HEAT repeat [structural motif]
    pfam13646
    Location:767847
    HEAT_2; HEAT repeats
  5. XM_024449582.1XP_024305350.1  HEAT repeat-containing protein 4 isoform X2

    Conserved Domains (2) summary
    sd00044
    Location:483504
    HEAT; HEAT repeat [structural motif]
    pfam02985
    Location:530559
    HEAT; HEAT repeat
  6. XM_011536761.3XP_011535063.1  HEAT repeat-containing protein 4 isoform X3

    Conserved Domains (1) summary
    pfam02985
    Location:530559
    HEAT; HEAT repeat

RNA

  1. XR_002957552.1 RNA Sequence

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