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    HEATR5B HEAT repeat containing 5B [ Homo sapiens (human) ]

    Gene ID: 54497, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HEATR5Bprovided by HGNC
    Official Full Name
    HEAT repeat containing 5Bprovided by HGNC
    Primary source
    HGNC:HGNC:29273
    See related
    Ensembl:ENSG00000008869 MIM:619627; AllianceGenome:HGNC:29273
    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
    p200; p200a
    Summary
    Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.3), thyroid (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HEATR5B in Genome Data Viewer
    Location:
    2p22.2
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (36980895..37084372, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (36988032..37091507, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (37208038..37311515, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905990 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:36964254-36964949 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:36981017-36981669 Neighboring gene vitrin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15577 Neighboring gene Sharpr-MPRA regulatory region 5815 Neighboring gene RNA, U6 small nuclear 577, pseudogene Neighboring gene striatin Neighboring gene MPRA-validated peak3656 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:37189639-37189834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11352 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:37230067-37230233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15579 Neighboring gene G-patch domain containing 11 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 2 Neighboring gene ARL14EP pseudogene 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. Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. Ghosh SG, et al. Eur J Hum Genet, 2021 Jun. PMID 33824466, Free PMC Article
    2. Adaptor protein complex-1 (AP-1) is recruited by the HEATR5 protein Laa1 and its co-factor Laa2 in yeast. Zysnarski CJ, et al. J Biol Chem, 2019 Jan 25. PMID 30523155, Free PMC Article
    3. The aftiphilin/p200/gamma-synergin complex. Hirst J, et al. Mol Biol Cell, 2005 May. PMID 15758025, Free PMC Article
    4. Proteome-wide analysis of phospho-regulated PDZ domain interactions. Sundell GN, et al. Mol Syst Biol, 2018 Aug 20. PMID 30126976, Free PMC Article
    5. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. Shiffman D, et al. Arterioscler Thromb Vasc Biol, 2008 Jan. PMID 17975119, Free PMC Article

    See all (43) 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.
    2. Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
      Title: Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene variants associated with ischemic stroke: the cardiovascular health study.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1414

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    HEAT repeat-containing protein 5B

    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_019024.3 → NP_061897.1  HEAT repeat-containing protein 5B

      See identical proteins and their annotated locations for NP_061897.1

      Status: VALIDATED

      Source sequence(s)
      AB037835, AC007404, AC007899, AK096637, AV759566, BX538008, CA432330
      Consensus CDS
      CCDS33181.1
      UniProtKB/Swiss-Prot
      B5MDU8, Q7Z3B2, Q9NVL7, Q9P2D3
      UniProtKB/TrEMBL
      B9EK47
      Related
      ENSP00000233099.5, ENST00000233099.6
      Conserved Domains (1) summary
      sd00044
      Location:852 → 882
      HEAT; HEAT repeat [structural motif]

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      36980895..37084372 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444812.1 → XP_047300768.1  HEAT repeat-containing protein 5B isoform X6

    2. XM_047444810.1 → XP_047300766.1  HEAT repeat-containing protein 5B isoform X3

    3. XM_006712035.5 → XP_006712098.1  HEAT repeat-containing protein 5B isoform X2

      UniProtKB/TrEMBL
      B9EK47
      Conserved Domains (1) summary
      sd00044
      Location:840 → 870
      HEAT; HEAT repeat [structural motif]

    4. XM_047444811.1 → XP_047300767.1  HEAT repeat-containing protein 5B isoform X5

    5. XM_017004378.2 → XP_016859867.1  HEAT repeat-containing protein 5B isoform X4

      UniProtKB/TrEMBL
      B9EK47

    6. XM_006712034.3 → XP_006712097.1  HEAT repeat-containing protein 5B isoform X1

      UniProtKB/TrEMBL
      B9EK47
      Conserved Domains (1) summary
      sd00044
      Location:852 → 882
      HEAT; HEAT repeat [structural motif]

    7. XM_047444814.1 → XP_047300770.1  HEAT repeat-containing protein 5B isoform X8

    8. XM_011532935.4 → XP_011531237.1  HEAT repeat-containing protein 5B isoform X9

      Conserved Domains (1) summary
      sd00044
      Location:235 → 265
      HEAT; HEAT repeat [structural motif]

    9. XM_047444813.1 → XP_047300769.1  HEAT repeat-containing protein 5B isoform X7

    10. XM_047444815.1 → XP_047300771.1  HEAT repeat-containing protein 5B isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      36988032..37091507 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342640.1 → XP_054198615.1  HEAT repeat-containing protein 5B isoform X6

    2. XM_054342637.1 → XP_054198612.1  HEAT repeat-containing protein 5B isoform X3

    3. XM_054342636.1 → XP_054198611.1  HEAT repeat-containing protein 5B isoform X2

    4. XM_054342639.1 → XP_054198614.1  HEAT repeat-containing protein 5B isoform X5

    5. XM_054342638.1 → XP_054198613.1  HEAT repeat-containing protein 5B isoform X4

    6. XM_054342635.1 → XP_054198610.1  HEAT repeat-containing protein 5B isoform X1

    7. XM_054342642.1 → XP_054198617.1  HEAT repeat-containing protein 5B isoform X8

    8. XM_054342643.1 → XP_054198618.1  HEAT repeat-containing protein 5B isoform X9

    9. XM_054342641.1 → XP_054198616.1  HEAT repeat-containing protein 5B isoform X7

    10. XM_054342644.1 → XP_054198619.1  HEAT repeat-containing protein 5B isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2D3.2 GenPept UniProtKB/Swiss-Prot:Q9P2D3

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