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    EGFEM1P EGF like and EMI domain containing 1, pseudogene [ Homo sapiens (human) ]

    Gene ID: 93556, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EGFEM1Pprovided by HGNC
    Official Full Name
    EGF like and EMI domain containing 1, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:25149
    See related
    AllianceGenome:HGNC:25149
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3orf50; NCRNA00259
    Summary
    Predicted to enable scavenger receptor activity. Predicted to be involved in vesicle-mediated transport. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See EGFEM1P in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (168249522..168830599)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (171033417..171614565)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (167967310..168548387)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:167729036-167729547 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20773 Neighboring gene NANOG hESC enhancer GRCh37_chr3:167799674-167800287 Neighboring gene golgi integral membrane protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14868 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:167813739-167814240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20774 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4789 Neighboring gene Sharpr-MPRA regulatory region 6960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14871 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:167990063-167990598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20779 Neighboring gene NANOG hESC enhancer GRCh37_chr3:167993395-167993896 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:168102881-168103380 Neighboring gene MPRA-validated peak4911 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:168231986-168232502 Neighboring gene RNA, U2 small nuclear 20, pseudogene Neighboring gene uncharacterized LOC105374200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:168334872-168335488 Neighboring gene microRNA 551b Neighboring gene ribosomal protein SA pseudogene 33 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:168525100-168525695 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:168529953-168530542 Neighboring gene ribosomal protein L21 pseudogene 43 Neighboring gene long intergenic non-protein coding RNA 2082

    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. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. Zhang ZD, et al. Genome Biol, 2010. PMID 20210993, Free PMC Article
    2. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article
    3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • multiple EGF-like-domains 6 pseudogene

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables scavenger receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  

    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.

    RNA

    1. NR_021485.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC092954, BC011266, BI461452, BM716713, DN831821, DR000794, DT932647, DT932648

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      168249522..168830599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      171033417..171614565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_025765.1: Suppressed sequence

      Description
      NG_025765.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0D2K5.1 GenPept UniProtKB/Swiss-Prot:Q0D2K5

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials