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    EPCIP exosomal polycystin 1 interacting protein [ Homo sapiens (human) ]

    Gene ID: 56245, updated on 27-Nov-2024

    Summary

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    Official Symbol
    EPCIPprovided by HGNC
    Official Full Name
    exosomal polycystin 1 interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:1305
    See related
    Ensembl:ENSG00000205929 AllianceGenome:HGNC:1305
    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
    B37; CU062; PRED81; C21orf62; C21orf120
    Summary
    Involved in mitocytosis. Located in extracellular exosome and migrasome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in ovary (RPKM 6.0), kidney (RPKM 3.0) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EPCIP in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (32790673..32813703, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31156897..31179935, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34162984..34186013, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene synaptojanin 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:34100031-34100531 Neighboring gene PAXBP1 antisense RNA 1 Neighboring gene uncharacterized LOC124905010 Neighboring gene PAX3 and PAX7 binding protein 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:34143733-34144722 Neighboring gene EPCIP antisense RNA 1 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene uncharacterized LOC124905012 Neighboring gene VISTA enhancer hs1548

    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. Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1). Lea WA, et al. Cells, 2023 Aug 29. PMID 37681898, Free PMC Article
    2. Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. Slavov D, et al. Gene, 2000 Apr 18. PMID 10773462
    3. Genome-wide association of serum bilirubin levels in Korean population. Kang TW, et al. Hum Mol Genet, 2010 Sep 15. PMID 20639394, Free PMC Article
    4. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. Gardiner K, et al. Genomics, 2002 Jun. PMID 12036298
    5. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. Warnatz HJ, et al. Nucleic Acids Res, 2010 Oct. PMID 20494980, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1).
      Title: Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1).
    2. The C21orf120 promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells.
      Title: Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association of serum bilirubin levels in Korean population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in migrasome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in migrasome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    exosomal polycystin-1-interacting protein
    Names
    polycystin-1-interacting protein 1
    uncharacterized protein C21orf62

    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_001162495.3 → NP_001155967.2  exosomal polycystin-1-interacting protein precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AP000280, BC069689, BC069779, BE466137, DQ656042
      Consensus CDS
      CCDS42919.2
      UniProtKB/Swiss-Prot
      A8K4L8, Q9NYP8
      Related
      ENSP00000418653.1, ENST00000479548.2
      Conserved Domains (1) summary
      pfam15137
      Location:6 → 219
      DUF4571; Domain of unknown function (DUF4571)

    2. NM_001162496.3 → NP_001155968.2  exosomal polycystin-1-interacting protein precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AP000280, BC069689, BC069709, BE466137, DQ656042
      Consensus CDS
      CCDS42919.2
      UniProtKB/Swiss-Prot
      A8K4L8, Q9NYP8
      Related
      ENSP00000418511.1, ENST00000487113.1
      Conserved Domains (1) summary
      pfam15137
      Location:6 → 219
      DUF4571; Domain of unknown function (DUF4571)

    3. NM_019596.6 → NP_062542.5  exosomal polycystin-1-interacting protein precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AP000280, BC069689, BE466137, DQ656042
      Consensus CDS
      CCDS42919.2
      UniProtKB/Swiss-Prot
      A8K4L8, Q9NYP8
      Related
      ENSP00000418830.1, ENST00000490358.5
      Conserved Domains (1) summary
      pfam15137
      Location:6 → 219
      DUF4571; Domain of unknown function (DUF4571)

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      32790673..32813703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315969.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      21595..44610 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      31156897..31179935 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYP8.3 GenPept UniProtKB/Swiss-Prot:Q9NYP8

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