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] See more...

Aliases for DIPK1A Gene

Aliases for DIPK1A Gene

  • Divergent Protein Kinase Domain 1A 2 3 4 5
  • Family With Sequence Similarity 69 Member A 2 3
  • Protein FAM69A 3 4
  • FAM69A 3 4
  • Family With Sequence Similarity 69, Member A 2
  • FLJ23493 2
  • DIPK1A 5

External Ids for DIPK1A Gene

Previous HGNC Symbols for DIPK1A Gene

  • FAM69A

Summaries for DIPK1A Gene

Entrez Gene Summary for DIPK1A Gene

  • 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]

GeneCards Summary for DIPK1A Gene

DIPK1A (Divergent Protein Kinase Domain 1A) is a Protein Coding gene. Diseases associated with DIPK1A include Diamond-Blackfan Anemia 6 and Hemangioma. An important paralog of this gene is DIPK1B.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DIPK1A Gene

Genomics for DIPK1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DIPK1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J092959 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 264 0.0 -32 4.1 BCLAF1 ZNF207 ZNF600 ZNF654 IKZF1 CEBPA ATF3 POLR2A ZIC2 YY1 DIPK1A EVI5 lnc-FAM69A-3 lnc-MTF2-4 DR1 MTF2
GH01J092297 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 27.6 +662.8 662821 3.8 ZNF207 MYC ZNF600 ZNF580 POLR2A ZSCAN16 ZIC2 ZBTB10 YY1 MXD4 RPAP2 lnc-GLMN-1 GLMN DIPK1A EVI5 piR-31758 C1orf146
GH01J092482 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.8 +476.9 476921 6 EZH2 BCLAF1 ZNF207 ZNF600 ZNF580 ATF2 POLR2A CEBPA ZNF10 ZIC2 GFI1 MN308751 lnc-EVI5-1 DIPK1A CCDC18-AS1 MTF2 SNORD21 EVI5 SNORA66 GLMN
GH01J092933 Enhancer 1.2 Ensembl ENCODE dbSUPER 38.1 +26.3 26321 4.8 CTBP1 MAFF RARA ZNF316 TEAD3 ZNF843 TAL1 FOXP1 MAFK PRDM6 DIPK1A EVI5 CCDC18-AS1 ENSG00000229052 LOC100127934 lnc-RPL5-3 RPL5
GH01J092504 Enhancer 1.2 Ensembl ENCODE dbSUPER 28.9 +456.6 456637 3 CEBPA CHD4 YY1 HOMEZ THAP11 FOXA2 KDM6A SMAD4 RXRA ZNF511 DIPK1A EVI5 RF00017-234 GFI1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DIPK1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DIPK1A

Genomic Locations for DIPK1A Gene

Latest Assembly
chr1:92,832,729-92,961,522
(GRCh38/hg38)
Size:
128,794 bases
Orientation:
Minus strand

Previous Assembly
chr1:93,298,286-93,427,019
(GRCh37/hg19 by Entrez Gene)
Size:
128,734 bases
Orientation:
Minus strand

chr1:93,307,724-93,427,057
(GRCh37/hg19 by Ensembl)
Size:
119,334 bases
Orientation:
Minus strand

Genomic View for DIPK1A Gene

Genes around DIPK1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIPK1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIPK1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIPK1A Gene

Proteins for DIPK1A Gene

  • Protein details for DIPK1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T7M9-DIK1A_HUMAN
    Recommended name:
    Divergent protein kinase domain 1A
    Protein Accession:
    Q5T7M9
    Secondary Accessions:
    • Q6IRV2

    Protein attributes for DIPK1A Gene

    Size:
    428 amino acids
    Molecular mass:
    49024 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DIPK1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIPK1A Gene

Post-translational modifications for DIPK1A Gene

  • Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds.
  • Glycosylation at Thr141
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DIPK1A Gene

Domains & Families for DIPK1A Gene

Gene Families for DIPK1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DIPK1A Gene

Suggested Antigen Peptide Sequences for DIPK1A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM69A (FA69A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T7M9

UniProtKB/Swiss-Prot:

DIK1A_HUMAN :
  • Belongs to the DIPK family.
Family:
  • Belongs to the DIPK family.
genes like me logo Genes that share domains with DIPK1A: view

Function for DIPK1A Gene

Phenotypes From GWAS Catalog for DIPK1A Gene

Gene Ontology (GO) - Molecular Function for DIPK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with DIPK1A: view
genes like me logo Genes that share phenotypes with DIPK1A: view

Animal Models for DIPK1A Gene

MGI Knock Outs for DIPK1A:
  • Dipk1a Dipk1a<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIPK1A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DIPK1A Gene

Localization for DIPK1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIPK1A Gene

Endoplasmic reticulum membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIPK1A gene
Compartment Confidence
cytosol 2
golgi apparatus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DIPK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DIPK1A: view

Pathways & Interactions for DIPK1A Gene

PathCards logo

SuperPathways for DIPK1A Gene

No Data Available

Interacting Proteins for DIPK1A Gene

Gene Ontology (GO) - Biological Process for DIPK1A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DIPK1A Gene

Drugs & Compounds for DIPK1A Gene

No Compound Related Data Available

Transcripts for DIPK1A Gene

mRNA/cDNA for DIPK1A Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIPK1A

Alternative Splicing Database (ASD) splice patterns (SP) for DIPK1A Gene

No ASD Table

Relevant External Links for DIPK1A Gene

GeneLoc Exon Structure for
DIPK1A

Expression for DIPK1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DIPK1A

SOURCE GeneReport for Unigene cluster for DIPK1A Gene:

Hs.180946

Evidence on tissue expression from TISSUES for DIPK1A Gene

  • Nervous system(4.5)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DIPK1A Gene

Orthologs for DIPK1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for DIPK1A Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia MGC143035 30
  • 100 (a)
OneToOne
FAM69A 29
  • 95.17 (n)
Chimpanzee
(Pan troglodytes)
Mammalia FAM69A 29 30
  • 99.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM69A 29 30
  • 95.17 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM69A 30
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam69a 29 30
  • 91.36 (n)
OneToOne
Dipk1a 16
Rat
(Rattus norvegicus)
Mammalia Fam69a 29
  • 89.25 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM69A 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM69A 29 30
  • 80.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM69A 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam69a 29
  • 72.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii fam69a 29 30
  • 62.85 (n)
OneToMany
FAM69A (1 of 2) 30
  • 60 (a)
OneToMany
Species where no ortholog for DIPK1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DIPK1A Gene

ENSEMBL:
Gene Tree for DIPK1A (if available)
TreeFam:
Gene Tree for DIPK1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DIPK1A: view image
Alliance of Genome Resources:
Additional Orthologs for DIPK1A

Paralogs for DIPK1A Gene

Paralogs for DIPK1A Gene

genes like me logo Genes that share paralogs with DIPK1A: view

Variants for DIPK1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DIPK1A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1010598 Uncertain Significance: Diamond-Blackfan anemia 92,836,284(-) G/A
NM_000969.5(RPL5):c.419G>A (p.Gly140Asp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1015515 Uncertain Significance: Diamond-Blackfan anemia 92,834,840(-) C/G
NM_000969.5(RPL5):c.251C>G (p.Pro84Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1021862 Uncertain Significance: Diamond-Blackfan anemia 92,834,905(-) G/A
NM_000969.5(RPL5):c.316G>A (p.Ala106Thr)
MISSENSE_VARIANT,INTRON
1030925 Pathogenic: Diamond-Blackfan anemia 6 92,836,324(-) T/TTGAA
NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter)
NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,INTRON
842399 Pathogenic: Diamond-Blackfan anemia 92,833,390(-) GGTTT/G
NM_000969.5(RPL5):c.9_12del (p.Phe3fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DIPK1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DIPK1A Gene

Variant ID Type Subtype PubMed ID
esv2714684 CNV deletion 23290073
esv2714873 CNV deletion 23290073
esv3586822 CNV loss 21293372
nsv1008602 CNV gain 25217958
nsv1137783 CNV deletion 24896259
nsv506946 OTHER sequence alteration 20534489
nsv508393 CNV deletion 20534489
nsv946076 CNV duplication 23825009
nsv946077 CNV duplication 23825009
nsv946078 CNV duplication 23825009
nsv946079 CNV duplication 23825009

Variation tolerance for DIPK1A Gene

Gene Damage Index Score: 1.34; 26.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DIPK1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIPK1A
Leiden Open Variation Database (LOVD)
DIPK1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIPK1A Gene

Disorders for DIPK1A Gene

MalaCards: The human disease database

(10) MalaCards diseases for DIPK1A Gene - From: CVR and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DIPK1A

genes like me logo Genes that share disorders with DIPK1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DIPK1A Gene

Publications for DIPK1A Gene

  1. A novel predicted calcium-regulated kinase family implicated in neurological disorders. (PMID: 23840464) Dudkiewicz M … Pawłowski K (PloS one 2013) 2 3
  2. Characterisation of the FAM69 family of cysteine-rich endoplasmic reticulum proteins. (PMID: 21334309) Tennant-Eyles AJ … Roberts RG (Biochemical and biophysical research communications 2011) 2 3
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for DIPK1A Gene

Sources for DIPK1A Gene