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    DIPK1C divergent protein kinase domain 1C [ Homo sapiens (human) ]

    Gene ID: 125704, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DIPK1Cprovided by HGNC
    Official Full Name
    divergent protein kinase domain 1Cprovided by HGNC
    Primary source
    HGNC:HGNC:31729
    See related
    Ensembl:ENSG00000187773 MIM:614544; AllianceGenome:HGNC:31729
    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
    FNCAD; FAM69C; C18orf51
    Summary
    This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]
    Expression
    Biased expression in brain (RPKM 3.7), testis (RPKM 1.4) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DIPK1C in Genome Data Viewer
    Location:
    18q22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (74434775..74464648, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (74662448..74692347, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (72102010..72124543, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72070287-72070787 Neighboring gene FAU pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72079090-72079848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72079849-72080607 Neighboring gene long intergenic non-protein coding RNA 1922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72112405-72112906 Neighboring gene CRISPRi-validated cis-regulatory element chr18.1476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13496 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:72163711-72164223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72177239-72177740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72177741-72178240 Neighboring gene carnosine dipeptidase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72208118-72208618 Neighboring gene carnosine dipeptidase 1 Neighboring gene uncharacterized LOC124904324

    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. FAM69C functions as a kinase for eIF2α and promotes stress granule assembly. Wu Z, et al. EMBO Rep, 2023 May 4. PMID 36929224, Free PMC Article
    2. FAM69C, a kinase critical for synaptic function and memory, is defective in neurodegenerative dementia. Mei F, et al. Cell Rep, 2022 Jul 19. PMID 35858575
    3. Characterisation of the FAM69 family of cysteine-rich endoplasmic reticulum proteins. Tennant-Eyles AJ, et al. Biochem Biophys Res Commun, 2011 Mar 18. PMID 21334309
    4. A novel predicted calcium-regulated kinase family implicated in neurological disorders. Dudkiewicz M, et al. PLoS One, 2013. PMID 23840464, Free PMC Article
    5. Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein-protein interactions in the human cell. Bartolec TK, et al. Proc Natl Acad Sci U S A, 2023 Apr 25. PMID 37071682, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    divergent protein kinase domain 1C
    Names
    familial non-conventional Alzheimer's dementia
    family with sequence similarity 69 member C
    protein FAM69C

    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_001044369.3 → NP_001037834.2  divergent protein kinase domain 1C

      See identical proteins and their annotated locations for NP_001037834.2

      Status: VALIDATED

      Source sequence(s)
      AC009704
      Consensus CDS
      CCDS42445.2
      UniProtKB/Swiss-Prot
      Q0P6D2
      Related
      ENSP00000344331.6, ENST00000343998.8
      Conserved Domains (2) summary
      pfam12260
      Location:187 → 385
      PIP49_C; Protein-kinase domain of FAM69
      pfam14875
      Location:24 → 168
      PIP49_N; N-term cysteine-rich ER, FAM69

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      74434775..74464648 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025551.3 → XP_016881040.1  divergent protein kinase domain 1C isoform X2

      Conserved Domains (1) summary
      pfam12260
      Location:46 → 244
      PIP49_C; Protein-kinase domain of FAM69

    2. XM_047437299.1 → XP_047293255.1  divergent protein kinase domain 1C isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      74662448..74692347 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318201.1 → XP_054174176.1  divergent protein kinase domain 1C isoform X2

    2. XM_054318200.1 → XP_054174175.1  divergent protein kinase domain 1C isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0P6D2.3 GenPept UniProtKB/Swiss-Prot:Q0P6D2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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