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

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 Diamond-Blackfan Anemia 1. An important paralog of this gene is DIPK1B.

Additional gene information for DIPK1A Gene

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 for DIPK1A Gene

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 764 0.0 -32 4.1 ZNF24 ZBTB40 CTCF ZBTB6 FOXA1 POLR2A MIXL1 ZNF362 CC2D1A RELA DIPK1A EVI5 lnc-FAM69A-3 lnc-MTF2-4 DR1 MTF2
GH01J092297 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 27.6 +662.5 662499 3.2 ZNF785 CTCF ZBTB6 POLR2A CREB1 RUNX1 MYC L3MBTL2 ZNF280D NKRF RPAP2 lnc-GLMN-1 GLMN DIPK1A EVI5 piR-43107-016
GH01J092482 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.8 +476.9 476921 6 CTCF RBPJ MIXL1 ZNF362 MYC ETV6 L3MBTL2 MAX ZNF121 HDGF GFI1 lnc-EVI5-1 DIPK1A CCDC18-AS1 EVI5 GLMN SNORA66 RPL5 SNORD21 MTF2
GH01J092933 Enhancer 1.1 Ensembl ENCODE dbSUPER 38.1 +25.9 25921 5.6 NR2F6 ZNF121 SP1 MAFK HNF1A POLR2A RXRA ZBTB8A RXRB ZNF7 DIPK1A EVI5 CCDC18-AS1 ENSG00000229052 LOC100127934 lnc-RPL5-3
GH01J092504 Enhancer 1.2 Ensembl ENCODE dbSUPER 28.9 +456.6 456637 3 RBPJ NR2F1 NR2F6 MIXL1 HLF CEBPB MAX RAD21 ELF3 SP1 DIPK1A EVI5 RF00017-270 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for DIPK1A Gene

Genomic Locations for DIPK1A Gene
chr1:92,832,729-92,961,522
(GRCh38/hg38)
Size:
128,794 bases
Orientation:
Minus strand
chr1:93,307,721-93,427,079
(GRCh37/hg19)
Size:
119,359 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

InterPro:
ProtoNet:

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

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>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
endoplasmic reticulum 3
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1
golgi apparatus 1
nucleus 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for DIPK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for DIPK1A Gene

GeneLoc Exon Structure for
DIPK1A
ECgene alternative splicing isoforms for
DIPK1A

Expression for DIPK1A Gene

NURSA nuclear receptor signaling pathways regulating expression of DIPK1A Gene:

DIPK1A

SOURCE GeneReport for Unigene cluster for DIPK1A Gene:

Hs.180946

Evidence on tissue expression from TISSUES for DIPK1A Gene

  • Nervous system(4.4)
No Expression Related Data Available

Primer Products

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 33
  • 100 (a)
OneToOne
FAM69A 32
  • 95.17 (n)
chimpanzee
(Pan troglodytes)
Mammalia FAM69A 33 32
  • 99.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM69A 33 32
  • 95.17 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM69A 33
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam69a 33 32
  • 91.36 (n)
OneToOne
Dipk1a 17
rat
(Rattus norvegicus)
Mammalia Fam69a 32
  • 89.25 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM69A 33
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM69A 33 32
  • 80.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM69A 33
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam69a 32
  • 72.05 (n)
zebrafish
(Danio rerio)
Actinopterygii fam69a 33 32
  • 62.85 (n)
OneToMany
FAM69A (1 of 2) 33
  • 60 (a)
OneToMany
Species where no ortholog for DIPK1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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 from dbSNP and Humsavar for DIPK1A Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1060503527 pathogenic, Diamond-Blackfan anemia 92,833,603(-) C/G genic_downstream_transcript_variant, intron_variant
rs1060503545 uncertain-significance, Diamond-Blackfan anemia 92,841,839(-) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs10874744 benign, Diamond-Blackfan anemia 92,840,760(-) G/A genic_downstream_transcript_variant, intron_variant
rs113792800 benign-likely-benign, benign, Diamond-Blackfan anemia, not specified 92,834,847(-) T/C genic_downstream_transcript_variant, intron_variant
rs11540832 benign-likely-benign, likely-benign, Diamond-Blackfan anemia, not specified, not provided 92,837,557(-) A/G genic_downstream_transcript_variant, intron_variant

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

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

Disorders for DIPK1A Gene

MalaCards: The human disease database

(3) MalaCards diseases for DIPK1A Gene - From: GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 6
  • diamond-blackfan anemia 1
diamond-blackfan anemia 1
  • dba1
diamond-blackfan anemia
  • diamond-blackfan anemia 1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with DIPK1A: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links 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 56
  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 56
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  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 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for DIPK1A Gene

Sources for DIPK1A Gene