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    ANGEL1 angel homolog 1 [ Homo sapiens (human) ]

    Gene ID: 23357, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ANGEL1provided by HGNC
    Official Full Name
    angel homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:19961
    See related
    Ensembl:ENSG00000013523 MIM:619537; AllianceGenome:HGNC:19961
    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
    Ccr4e; KIAA0759
    Summary
    Enables eukaryotic initiation factor 4E binding activity and protein domain specific binding activity. Located in several cellular components, including cis-Golgi network; endoplasmic reticulum; and perinuclear region of cytoplasm. Is active in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 25.2), spleen (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANGEL1 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (76786009..76812882, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (70995319..71022310, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77252352..77279225, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8771 Neighboring gene MPRA-validated peak2205 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77217211-77217770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77241882-77242840 Neighboring gene vasohibin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8772 Neighboring gene VASH1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77278266-77278840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77278841-77279414 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77288377-77289157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77294675-77295362 Neighboring gene Sharpr-MPRA regulatory region 2360 Neighboring gene leucine rich repeat containing 74A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77350573-77351390 Neighboring gene ribosomal protein L22 pseudogene 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 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. Genomic structure and evolutionary context of the human feline leukemia virus subgroup C receptor (hFLVCR) gene: evidence for block duplications and de novo gene formation within duplicons of the hFLVCR locus. Lipovich L, et al. Gene, 2002 Mar 20. PMID 11943475
    2. Tracking a refined eIF4E-binding motif reveals Angel1 as a new partner of eIF4E. Gosselin P, et al. Nucleic Acids Res, 2013 Sep. PMID 23814182, Free PMC Article
    3. ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing. Clemente P, et al. Nat Commun, 2022 Sep 30. PMID 36180430, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Oct 30. PMID 9872452
    5. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121

    See all (28) 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

    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

    • FLJ60172

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables eukaryotic initiation factor 4E binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cis-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein angel homolog 1

    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_001370746.1 → NP_001357675.1  protein angel homolog 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AF111169
      UniProtKB/TrEMBL
      A0A3B3IU54
      Conserved Domains (1) summary
      cl00490
      Location:248 → 449
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    2. NM_001370747.1 → NP_001357676.1  protein angel homolog 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AF111169
      UniProtKB/TrEMBL
      A0A3B3IU54
      Conserved Domains (1) summary
      cl00490
      Location:248 → 449
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    3. NM_001370748.1 → NP_001357677.1  protein angel homolog 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AF111169
      UniProtKB/TrEMBL
      A0A3B3IU54
      Conserved Domains (1) summary
      cl00490
      Location:248 → 449
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    4. NM_015305.4 → NP_056120.2  protein angel homolog 1 isoform 4

      See identical proteins and their annotated locations for NP_056120.2

      Status: VALIDATED

      Source sequence(s)
      AF111169
      Consensus CDS
      CCDS9852.1
      UniProtKB/Swiss-Prot
      B4DWL7, O94859, Q8NCS9, Q9UNK9
      UniProtKB/TrEMBL
      A0A3B3IU54
      Related
      ENSP00000251089.3, ENST00000251089.8
      Conserved Domains (1) summary
      cl00490
      Location:248 → 449
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    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
      76786009..76812882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      70995319..71022310 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNK9.1 GenPept UniProtKB/Swiss-Prot:Q9UNK9

    Gene LinkOut

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

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