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Aliases for ALKAL1 Gene

Aliases for ALKAL1 Gene

  • ALK And LTK Ligand 1 2 3 5
  • Family With Sequence Similarity 150 Member A 2 3
  • Augmentor Beta 3 4
  • AUG-Beta 3 4
  • FAM150A 3 4
  • Family With Sequence Similarity 150, Member A 2
  • Protein FAM150A 3
  • Augmentor-Alpha 3
  • Augmentor-Beta 2
  • RPLK9433 3
  • UNQ9433 3
  • AUGA 3
  • AUGB 3

External Ids for ALKAL1 Gene

Previous HGNC Symbols for ALKAL1 Gene

  • FAM150A

Summaries for ALKAL1 Gene

GeneCards Summary for ALKAL1 Gene

ALKAL1 (ALK And LTK Ligand 1) is a Protein Coding gene. An important paralog of this gene is ALKAL2.

UniProtKB/Swiss-Prot for ALKAL1 Gene

  • Ligand for receptor tyrosine kinase LTK and perhaps receptor tyrosine kinase ALK; activation of ALK is reported conflictingly.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALKAL1 Gene

Genomics for ALKAL1 Gene

Regulatory Elements for ALKAL1 Gene

Enhancers for ALKAL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G052939 1.1 Ensembl ENCODE 9.8 -375.1 -375148 3.2 NFXL1 ZNF48 RAD21 GATA2 ZNF143 MIXL1 ZNF263 ZNF654 SP3 ZNF398 ALKAL1 GC08M052938 NPBWR1
GH08G052496 0.7 ENCODE 11.5 +69.2 69192 0.2 CTCF PKNOX1 ZNF654 TRIM22 REST RAD21 ZGPAT SMC3 ZNF143 DEK ST18 ALKAL1 GC08M052509
GH08G052466 1.5 FANTOM5 Ensembl ENCODE 4.7 +98.2 98168 1.5 PKNOX1 FOXA2 ZFP64 SIN3A BRCA1 GLIS2 GATA2 FOS SMARCB1 MBD2 ST18 ALKAL1 RB1CC1 GC08M052509
GH08G052402 0.5 dbSUPER 10.8 +162.6 162550 2.5 KLF1 CEBPB CEBPG ALKAL1 ST18 GC08M052343 GC08P052343
GH08G052615 0.4 ENCODE 10.5 -51.1 -51081 2.9 FOS MAFK ALKAL1 NPBWR1 ENSG00000228801 LOC105375835
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALKAL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALKAL1 Gene

Chromosome:
8
Start:
52,534,037 bp from pter
End:
52,565,507 bp from pter
Size:
31,471 bases
Orientation:
Minus strand

Genomic View for ALKAL1 Gene

Genes around ALKAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALKAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALKAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALKAL1 Gene

Proteins for ALKAL1 Gene

  • Protein details for ALKAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXT8-F150A_HUMAN
    Recommended name:
    Protein FAM150A
    Protein Accession:
    Q6UXT8
    Secondary Accessions:
    • B7ZMG9

    Protein attributes for ALKAL1 Gene

    Size:
    129 amino acids
    Molecular mass:
    14269 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALKAL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALKAL1 Gene

Post-translational modifications for ALKAL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALKAL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALKAL1 Gene

Domains & Families for ALKAL1 Gene

Protein Domains for ALKAL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALKAL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UXT8

UniProtKB/Swiss-Prot:

F150A_HUMAN :
  • Belongs to the FAM150 family.
Family:
  • Belongs to the FAM150 family.
genes like me logo Genes that share domains with ALKAL1: view

No data available for Gene Families for ALKAL1 Gene

Function for ALKAL1 Gene

Molecular function for ALKAL1 Gene

UniProtKB/Swiss-Prot Function:
Ligand for receptor tyrosine kinase LTK and perhaps receptor tyrosine kinase ALK; activation of ALK is reported conflictingly.

Gene Ontology (GO) - Molecular Function for ALKAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26418745
GO:0030298 receptor signaling protein tyrosine kinase activator activity IDA 26418745
GO:0030971 receptor tyrosine kinase binding IDA 26418745
genes like me logo Genes that share ontologies with ALKAL1: view

Phenotypes for ALKAL1 Gene

GenomeRNAi human phenotypes for ALKAL1:
genes like me logo Genes that share phenotypes with ALKAL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ALKAL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALKAL1 Gene

Localization for ALKAL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALKAL1 Gene

Secreted.

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 ALKAL1 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for ALKAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ALKAL1: view

Pathways & Interactions for ALKAL1 Gene

SuperPathways for ALKAL1 Gene

No Data Available

Interacting Proteins for ALKAL1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000351345%0d%0a9606.ENSP00000263800%0d%0a9606.ENSP00000373700%0d%0a
Selected Interacting proteins: Q6UXT8-F150A_HUMAN ENSP00000351345 for ALKAL1 Gene via UniProtKB STRING

Gene Ontology (GO) - Biological Process for ALKAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010976 positive regulation of neuron projection development IDA 26418745
GO:0061098 positive regulation of protein tyrosine kinase activity IEA --
GO:0070374 positive regulation of ERK1 and ERK2 cascade IDA 26418745
GO:0070378 positive regulation of ERK5 cascade IDA 26418745
genes like me logo Genes that share ontologies with ALKAL1: view

No data available for Pathways by source and SIGNOR curated interactions for ALKAL1 Gene

Transcripts for ALKAL1 Gene

mRNA/cDNA for ALKAL1 Gene

(1) REFSEQ mRNAs :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ALKAL1 Gene

No ASD Table

Relevant External Links for ALKAL1 Gene

GeneLoc Exon Structure for
ALKAL1
ECgene alternative splicing isoforms for
ALKAL1

Expression for ALKAL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALKAL1 Gene:

ALKAL1

mRNA Expression by UniProt/SwissProt for ALKAL1 Gene:

Q6UXT8-F150A_HUMAN
Tissue specificity: Widely expressed with highest levels in thyroid and moderate levels in stomach, trachea, small intestine, prostate and brain.

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALKAL1 Gene

Orthologs for ALKAL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALKAL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM150A 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia LOC608857 34
  • 87.15 (n)
FAM150A 35
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam150a 34 16 35
  • 85.39 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910984 34
  • 84.27 (n)
cow
(Bos Taurus)
Mammalia FAM150A 34
  • 81.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM150A 35
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM150A 35
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii FAM150A 35
  • 38 (a)
OneToOne
Species where no ortholog for ALKAL1 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALKAL1 Gene

ENSEMBL:
Gene Tree for ALKAL1 (if available)
TreeFam:
Gene Tree for ALKAL1 (if available)

Paralogs for ALKAL1 Gene

Paralogs for ALKAL1 Gene

genes like me logo Genes that share paralogs with ALKAL1: view

Variants for ALKAL1 Gene

Sequence variations from dbSNP and Humsavar for ALKAL1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000001045 -- 52,548,530(+) TGATA(A/G)TTGTT intron-variant
rs1000036630 -- 52,541,763(+) GAAAA(A/T)AATAA intron-variant
rs1000205718 -- 52,540,782(+) CCCTC(C/T)CTCCC intron-variant
rs1000277235 -- 52,555,221(+) GTCAA(A/C)TGGAG intron-variant
rs1000284729 -- 52,548,208(+) TAGCC(A/G)GGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALKAL1 Gene

Variant ID Type Subtype PubMed ID
dgv7218n100 CNV gain 25217958
dgv7219n100 CNV gain 25217958
esv2761192 CNV gain 21179565
esv2764065 CNV gain 21179565
esv3576572 CNV gain 25503493
esv3617214 CNV gain 21293372
esv3617216 CNV gain 21293372
esv3891394 CNV gain 25118596
esv3891395 CNV gain 25118596
nsv465680 CNV gain 19166990
nsv470213 CNV gain 18288195
nsv611355 CNV gain 21841781
nsv611356 CNV gain 21841781
nsv611357 CNV gain 21841781

Variation tolerance for ALKAL1 Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALKAL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALKAL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALKAL1 Gene

Disorders for ALKAL1 Gene

Relevant External Links for ALKAL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALKAL1

No disorders were found for ALKAL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ALKAL1 Gene

Publications for ALKAL1 Gene

  1. FAM150A and FAM150B are activating ligands for anaplastic lymphoma kinase. (PMID: 26418745) Guan J. … Palmer R.H. (Elife 2015) 2 3 4 64
  2. Augmentor alpha and beta (FAM150) are ligands of the receptor tyrosine kinases ALK and LTK: Hierarchy and specificity of ligand- receptor interactions. (PMID: 26630010) Reshetnyak A.V. … Schlessinger J. (Proc. Natl. Acad. Sci. U.S.A. 2015) 2 3 4 64
  3. Deorphanization of the human leukocyte tyrosine kinase (LTK) receptor by a signaling screen of the extracellular proteome. (PMID: 25331893) Zhang H. … Williams L.T. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 4 64
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  5. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 4 64

Products for ALKAL1 Gene

Sources for ALKAL1 Gene

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