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    DIPK1A divergent protein kinase domain 1A [ Homo sapiens (human) ]

    Gene ID: 388650, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DIPK1Aprovided by HGNC
    Official Full Name
    divergent protein kinase domain 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:32213
    See related
    Ensembl:ENSG00000154511 MIM:614542; AllianceGenome:HGNC:32213
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM69A
    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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Ubiquitous expression in brain (RPKM 13.7), fat (RPKM 8.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DIPK1A in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92832729..92961462, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92687309..92806635, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (93298286..93427019, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ecotropic viral integration site 5 Neighboring gene NANOG hESC enhancer GRCh37_chr1:93239902-93240565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1318 Neighboring gene cyclin J pseudogene 2 Neighboring gene H3 histone pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1319 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:93297399-93298037 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:93298038-93298675 Neighboring gene uncharacterized LOC124900443 Neighboring gene small nucleolar RNA, C/D box 21 Neighboring gene small nucleolar RNA, H/ACA box 66 Neighboring gene ribosomal protein L5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:93367921-93368420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1321 Neighboring gene Sharpr-MPRA regulatory region 12717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1322 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:93420065-93420248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1324 Neighboring gene MND1 pseudogene 1 Neighboring gene RNA, U6 small nuclear 970, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 692, pseudogene

    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. 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
    2. Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis. Alcina A, et al. Eur J Hum Genet, 2010 Jul. PMID 20087403, Free PMC Article
    3. A novel predicted calcium-regulated kinase family implicated in neurological disorders. Dudkiewicz M, et al. PLoS One, 2013. PMID 23840464, Free PMC Article
    4. Risk alleles for multiple sclerosis identified by a genomewide study. International Multiple Sclerosis Genetics Consortium, et al. N Engl J Med, 2007 Aug 30. PMID 17660530
    5. Risk alleles for multiple sclerosis in multiplex families. D'Netto MJ, et al. Neurology, 2009 Jun 9. PMID 19506219

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An analysis and fine mapping of GFI-EVI5-RPL5-FAM69A locus, genotyping eight Tag-single nucleotide polymorphisms in 732 multiple sclerosis patients and 974 controls from Spain, was performed.
      Title: Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis.
    2. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis.
    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

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Risk alleles for multiple sclerosis identified by a genomewide study.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ23493

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 1A
    Names
    family with sequence similarity 69 member A
    protein FAM69A

    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.

    Genomic

    1. NG_033051.1 RefSeqGene

      Range
      5061..124356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001006605.5 → NP_001006606.2  divergent protein kinase domain 1A isoform 1

      See identical proteins and their annotated locations for NP_001006606.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL162740, AL702320
      Consensus CDS
      CCDS44173.1
      UniProtKB/Swiss-Prot
      Q5T7M9, Q6IRV2
      UniProtKB/TrEMBL
      B4E174
      Related
      ENSP00000359333.4, ENST00000370310.5
      Conserved Domains (2) summary
      pfam12260
      Location:194 → 396
      PIP49_C; Protein-kinase domain of FAM69
      pfam14875
      Location:20 → 176
      PIP49_N; N-term cysteine-rich ER, FAM69

    2. NM_001252269.2 → NP_001239198.1  divergent protein kinase domain 1A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL162740, DB199113, DB475309
      Consensus CDS
      CCDS72823.1
      UniProtKB/TrEMBL
      A0A087X2C2, B4E174
      Related
      ENSP00000484866.1, ENST00000613902.4
      Conserved Domains (2) summary
      pfam12260
      Location:149 → 351
      PIP49_C; Protein-kinase domain of FAM69
      pfam14875
      Location:19 → 131
      PIP49_N; N-term cysteine-rich ER, FAM69

    3. NM_001252270.2 → NP_001239199.1  divergent protein kinase domain 1A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL162740, BF979329, DB475309, DB498496
      Consensus CDS
      CCDS72824.1
      UniProtKB/TrEMBL
      A0A087WZK6, B4E174
      Related
      ENSP00000482718.1, ENST00000616709.4
      Conserved Domains (2) summary
      pfam12260
      Location:135 → 337
      PIP49_C; Protein-kinase domain of FAM69
      pfam14875
      Location:20 → 108
      PIP49_N; N-term cysteine-rich ER, FAM69

    4. NM_001252271.2 → NP_001239200.1  divergent protein kinase domain 1A isoform 4

      See identical proteins and their annotated locations for NP_001239200.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL162740, DA141589, DA155419, DA348631
      Consensus CDS
      CCDS72822.1
      UniProtKB/TrEMBL
      A0A087WZ97, B4E174
      Related
      ENSP00000482478.1, ENST00000613047.4
      Conserved Domains (2) summary
      pfam12260
      Location:169 → 371
      PIP49_C; Protein-kinase domain of FAM69
      pfam14875
      Location:1 → 151
      PIP49_N; N-term cysteine-rich ER, FAM69

    5. NM_001252273.2 → NP_001239202.1  divergent protein kinase domain 1A isoform 5

      See identical proteins and their annotated locations for NP_001239202.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate terminal exon, which results in a frameshift and different 3' UTR, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC070342, DA736826, DB475309
      Consensus CDS
      CCDS72825.1
      UniProtKB/Swiss-Prot
      Q5T7M9
      Related
      ENSP00000483279.1, ENST00000615519.4
      Conserved Domains (1) summary
      pfam14875
      Location:20 → 159
      PIP49_N; N-term cysteine-rich ER, FAM69

    6. NM_001426239.1 → NP_001413168.1  divergent protein kinase domain 1A isoform 6

      Status: REVIEWED

      Source sequence(s)
      CP068277

    7. NM_001426240.1 → NP_001413169.1  divergent protein kinase domain 1A isoform 7

      Status: REVIEWED

      Source sequence(s)
      CP068277

    8. NM_001426241.1 → NP_001413170.1  divergent protein kinase domain 1A isoform 8

      Status: REVIEWED

      Source sequence(s)
      CP068277

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      92832729..92961462 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      92687309..92806635 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T7M9.1 GenPept UniProtKB/Swiss-Prot:Q5T7M9

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