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

Gene ID: 125704, updated on 2-Nov-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
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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

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