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ANGEL1 angel homolog 1 [ Homo sapiens (human) ]

Gene ID: 23357, updated on 4-Jan-2025

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, Jan 2025]
Expression
Broad expression in testis (RPKM 25.2), spleen (RPKM 10.7) and 25 other tissues See more
Orthologs
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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)

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 catalytic activity IEA
Inferred from Electronic Annotation
more info
  
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

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