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    HEATR5A HEAT repeat containing 5A [ Homo sapiens (human) ]

    Gene ID: 25938, updated on 5-Mar-2024

    Summary

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    Official Symbol
    HEATR5Aprovided by HGNC
    Official Full Name
    HEAT repeat containing 5Aprovided by HGNC
    Primary source
    HGNC:HGNC:20276
    See related
    Ensembl:ENSG00000129493 AllianceGenome:HGNC:20276
    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
    p200b; C14orf125
    Summary
    Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Predicted to be located in cytosol. Predicted to be active in endocytic vesicle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon (RPKM 6.4), thyroid (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q12
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (31291788..31420550, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (25489675..25618192, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (31760994..31889756, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene HECT domain E3 ubiquitin protein ligase 1 Neighboring gene RNA, U6 small nuclear 541, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7641 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:31675891-31676404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5654 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:31676917-31677428 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:31677429-31677940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:31721909-31722408 Neighboring gene Sharpr-MPRA regulatory region 13013 Neighboring gene Sharpr-MPRA regulatory region 11779 Neighboring gene uncharacterized LOC124903438 Neighboring gene asparaginyl-tRNA synthetase 1 pseudogene 1 Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8233 Neighboring gene HEATR5A divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:31925731-31926316 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:31926317-31926902 Neighboring gene ribosomal protein L9 pseudogene 4 Neighboring gene D-aminoacyl-tRNA deacylase 2

    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. The aftiphilin/p200/gamma-synergin complex. Hirst J, et al. Mol Biol Cell, 2005 May. PMID 15758025, Free PMC Article
    2. USP48 Stabilizes Gasdermin E to Promote Pyroptosis in Cancer. Ren Y, et al. Cancer Res, 2023 Apr 4. PMID 36607699
    3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198
    4. SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation. Shi R, et al. Cell Biosci, 2021 Jul 27. PMID 34315543, Free PMC Article
    5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fast-evolving cofactors regulate the role of HEATR5 complexes in intra-Golgi trafficking.
      Title: Fast-evolving cofactors regulate the role of HEATR5 complexes in intra-Golgi trafficking.
    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

    Potential readthrough

    Included gene: DTD2

    Homology

    Clone Names

    • MGC72028, DKFZp781E083

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    HEAT repeat-containing protein 5A

    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_015473.4 → NP_056288.2  HEAT repeat-containing protein 5A

      Status: VALIDATED

      Source sequence(s)
      AL136418, AL139353
      Consensus CDS
      CCDS45094.2
      UniProtKB/Swiss-Prot
      Q68DD8, Q6P3S5, Q6P5R9, Q86XA9, Q9H8D7, Q9NXB7, Q9P2N0, Q9UFQ3
      UniProtKB/TrEMBL
      F5H619
      Related
      ENSP00000437968.2, ENST00000543095.7
      Conserved Domains (1) summary
      sd00044
      Location:97 → 121
      HEAT; HEAT repeat [structural motif]

    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
      31291788..31420550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      25489675..25618192 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XA9.2 GenPept UniProtKB/Swiss-Prot:Q86XA9

    Gene LinkOut

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

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