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C3P1 complement component 3 precursor pseudogene [ Homo sapiens (human) ]

Gene ID: 388503, updated on 2-Nov-2024

Summary

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Official Symbol
C3P1provided by HGNC
Official Full Name
complement component 3 precursor pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:34414
See related
Ensembl:ENSG00000291164 AllianceGenome:HGNC:34414
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
CPLP
Summary
Predicted to enable endopeptidase inhibitor activity. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward liver (RPKM 38.2) See more
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Genomic context

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See C3P1 in Genome Data Viewer
Location:
19p13.2
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10041356..10074138)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10167564..10200369)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10152032..10184814)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50731 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:10128438-10129637 Neighboring gene retinol dehydrogenase 8 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1735 Neighboring gene microRNA 5589 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10185500-10185601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10054 Neighboring gene shiftless antiviral inhibitor of ribosomal frameshifting Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10055 Neighboring gene angiopoietin like 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13937 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10216675-10217318 Neighboring gene PPAN-P2RY11 readthrough Neighboring gene small nucleolar RNA, C/D box 105 Neighboring gene peter pan homolog

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. A genomic analysis of rat proteases and protease inhibitors. Puente XS, et al. Genome Res, 2004 Apr. PMID 15060002, Free PMC Article
  2. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
  3. Study of FOXO1-interacting proteins using TurboID-based proximity labeling technology. Su Y, et al. BMC Genomics, 2023 Mar 24. PMID 36964488, Free PMC Article
  4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
  5. Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis. Li H, et al. Cell Rep, 2022 Dec 20. PMID 36543142

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular space 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_027300.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC020931, AK131489, AW827199, CB162385, DT932550
    Related
    ENST00000495140.2

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    10041356..10074138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    10167564..10200369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001013640.3: Suppressed sequence

    Description
    NM_001013640.3: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene because the ORF is truncated compared to the C3 gene (which is represented by RefSeq record NM_000064).
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZMU1.3 GenPept UniProtKB/Swiss-Prot:Q6ZMU1

Gene LinkOut

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Chemical Information
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