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    C3orf33 chromosome 3 open reading frame 33 [ Homo sapiens (human) ]

    Gene ID: 285315, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C3orf33provided by HGNC
    Official Full Name
    chromosome 3 open reading frame 33provided by HGNC
    Primary source
    HGNC:HGNC:26434
    See related
    Ensembl:ENSG00000174928 MIM:619654; AllianceGenome:HGNC:26434
    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
    AC3-33
    Summary
    Involved in negative regulation of ERK1 and ERK2 cascade and regulation of DNA-binding transcription factor activity. Located in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.9), adrenal (RPKM 2.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C3orf33 in Genome Data Viewer
    Location:
    3q25.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (155762617..155806278, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (158536490..158580161, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (155480406..155524067, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene phospholipase C eta 1 Neighboring gene ribosomal protein L6 pseudogene 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:155462097-155462718 Neighboring gene ribosomal protein L7a pseudogene 24 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:155507600-155507774 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:155508647-155509846 Neighboring gene MPRA-validated peak4874 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14833 Neighboring gene solute carrier family 33 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20722 Neighboring gene uncharacterized LOC105374174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20724

    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. Prokaryotic expression and characterization of human AC3-33 protein. Zhang X, et al. Front Biosci (Elite Ed), 2010 Jun 1. PMID 20515784
    2. Analysis of AC3-33 gene expression in multiple organ cancer and adjacent normal tissue by RNA in situ hybridization. Hu F, et al. Oncol Lett, 2015 Jun. PMID 26137149, Free PMC Article
    3. [Molecular cloning and preliminary function study of a novel human gene AC3-33 related to suppress AP-1 activity]. Liu P, et al. Yi Chuan, 2008 May. PMID 18487146
    4. AC3-33, a novel secretory protein, inhibits Elk1 transcriptional activity via ERK pathway. Hao D, et al. Mol Biol Rep, 2011 Feb. PMID 20680465
    5. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AC3-33 is a novel member of the secretory family and inhibits Elk1 transcriptional activity via ERK1/2 MAP
      Title: AC3-33, a novel secretory protein, inhibits Elk1 transcriptional activity via ERK pathway.
    2. The preliminary results showed that AC3-33 is an important novel gene related to supress AP-1 activity.
      Title: [Molecular cloning and preliminary function study of a novel human gene AC3-33 related to suppress AP-1 activity].
    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

    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

    • FLJ31139

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    protein C3orf33
    Names
    AP-1 activity suppressor

    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_001308229.2 → NP_001295158.1  protein C3orf33 isoform 1

      See identical proteins and their annotated locations for NP_001295158.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC104472, AF115515, DA275323
      Consensus CDS
      CCDS77843.1
      UniProtKB/Swiss-Prot
      A8K1H5, Q6P1S2, Q86YE6, Q8IXA7, Q96NB5
      Related
      ENSP00000342512.2, ENST00000340171.7

    2. NM_173657.3 → NP_775928.1  protein C3orf33 isoform 2

      See identical proteins and their annotated locations for NP_775928.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC104472, AK055701, DA275323
      Consensus CDS
      CCDS54659.1
      UniProtKB/Swiss-Prot
      Q6P1S2
      Related
      ENSP00000445446.1, ENST00000534941.2

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      155762617..155806278 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512710.3 → XP_011511012.1  protein C3orf33 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      158536490..158580161 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346300.1 → XP_054202275.1  protein C3orf33 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1S2.2 GenPept UniProtKB/Swiss-Prot:Q6P1S2

    Gene LinkOut

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