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    PCIF1 phosphorylated CTD interacting factor 1 [ Homo sapiens (human) ]

    Gene ID: 63935, updated on 10-Dec-2024

    Summary

    Official Symbol
    PCIF1provided by HGNC
    Official Full Name
    phosphorylated CTD interacting factor 1provided by HGNC
    Primary source
    HGNC:HGNC:16200
    See related
    Ensembl:ENSG00000100982 MIM:618626; AllianceGenome:HGNC:16200
    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
    CAPAM; MT-A70; hCAPAM; hPCIF1; C20orf67; PPP1R121
    Summary
    Enables RNA polymerase II C-terminal domain phosphoserine binding activity; S-adenosyl-L-methionine binding activity; and mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity. Involved in mRNA processing; negative regulation of translation; and positive regulation of translation. Located in intercellular bridge; microtubule cytoskeleton; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 21.7), thyroid (RPKM 17.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PCIF1 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45934683..45948020)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47670740..47684073)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44563322..44576659)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44519312-44520021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17954 Neighboring gene spermatogenesis associated 25 Neighboring gene neuralized E3 ubiquitin protein ligase 2 Neighboring gene cathepsin A Neighboring gene ReSE screen-validated silencer GRCh37_chr20:44531171-44531366 Neighboring gene phospholipid transfer protein Neighboring gene Sharpr-MPRA regulatory region 14031 Neighboring gene Sharpr-MPRA regulatory region 10402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44561248-44561940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17955 Neighboring gene pre-mRNA-splicing factor cwc22-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44562632-44563323 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44563324-44564014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44567204-44567719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44567720-44568234 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:44572602-44573801 Neighboring gene zinc finger protein 335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44603922-44604458 Neighboring gene ferritin light chain pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (34 hits/1284 screens)

    EBI GWAS Catalog

    Description
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in intercellular bridge  
    located_in microtubule cytoskeleton  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase
    Names
    PDX-1 C terminus-interacting factor 1
    PDX1 C-terminal inhibiting factor 1
    cap-specific adenosine methyltransferase
    protein phosphatase 1, regulatory subunit 121
    NP_071387.1
    XP_011527282.1
    XP_011527283.1
    XP_016883502.1
    XP_047296324.1
    XP_054179797.1
    XP_054179798.1
    XP_054179799.1
    XP_054179800.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_022104.4 → NP_071387.1  mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase

      See identical proteins and their annotated locations for NP_071387.1

      Status: VALIDATED

      Source sequence(s)
      BC013365, BQ684226
      Consensus CDS
      CCDS13388.1
      UniProtKB/Swiss-Prot
      E1P5P1, Q54AB9, Q9H4Z3, Q9NT85
      UniProtKB/TrEMBL
      B7Z5U5
      Related
      ENSP00000361486.3, ENST00000372409.8
      Conserved Domains (2) summary
      cd00201
      Location:47 → 77
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam12237
      Location:446 → 616
      PCIF1_WW; Phosphorylated CTD interacting factor 1 WW domain

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      45934683..45948020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528980.4 → XP_011527282.1  mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase isoform X1

      See identical proteins and their annotated locations for XP_011527282.1

      UniProtKB/Swiss-Prot
      E1P5P1, Q54AB9, Q9H4Z3, Q9NT85
      UniProtKB/TrEMBL
      B7Z5U5
      Conserved Domains (2) summary
      cd00201
      Location:47 → 77
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam12237
      Location:446 → 616
      PCIF1_WW; Phosphorylated CTD interacting factor 1 WW domain
    2. XM_017028013.3 → XP_016883502.1  mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      E1P5P1, Q54AB9, Q9H4Z3, Q9NT85
      UniProtKB/TrEMBL
      B7Z5U5
      Conserved Domains (2) summary
      cd00201
      Location:47 → 77
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam12237
      Location:446 → 616
      PCIF1_WW; Phosphorylated CTD interacting factor 1 WW domain
    3. XM_011528981.4 → XP_011527283.1  mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase isoform X1

      See identical proteins and their annotated locations for XP_011527283.1

      UniProtKB/Swiss-Prot
      E1P5P1, Q54AB9, Q9H4Z3, Q9NT85
      UniProtKB/TrEMBL
      B7Z5U5
      Conserved Domains (2) summary
      cd00201
      Location:47 → 77
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam12237
      Location:446 → 616
      PCIF1_WW; Phosphorylated CTD interacting factor 1 WW domain
    4. XM_047440368.1 → XP_047296324.1  mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase isoform X2

    RNA

    1. XR_936605.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47670740..47684073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323822.1 → XP_054179797.1  mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      E1P5P1, Q54AB9, Q9H4Z3, Q9NT85
      UniProtKB/TrEMBL
      B7Z5U5
    2. XM_054323824.1 → XP_054179799.1  mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      E1P5P1, Q54AB9, Q9H4Z3, Q9NT85
      UniProtKB/TrEMBL
      B7Z5U5
    3. XM_054323823.1 → XP_054179798.1  mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      E1P5P1, Q54AB9, Q9H4Z3, Q9NT85
      UniProtKB/TrEMBL
      B7Z5U5
    4. XM_054323825.1 → XP_054179800.1  mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase isoform X2

    RNA

    1. XR_008485291.1 RNA Sequence

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