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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
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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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