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

Gene ID: 56245, updated on 14-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
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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 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

    See identical proteins and their annotated locations for NP_001155967.2

    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

    See identical proteins and their annotated locations for NP_001155968.2

    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

    See identical proteins and their annotated locations for NP_062542.5

    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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