Aliases for ALKAL1 Gene

Aliases for ALKAL1 Gene

  • ALK And LTK Ligand 1 2 3 4 5
  • Family With Sequence Similarity 150 Member A 2 3
  • Protein FAM150A 3 4
  • Augmentor Beta 3 4
  • AUG-Beta 3 4
  • FAM150A 3 4
  • Family With Sequence Similarity 150, Member A 2
  • 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. Diseases associated with ALKAL1 include Paraphimosis.

UniProtKB/Swiss-Prot Summary for ALKAL1 Gene

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

Additional gene information for ALKAL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALKAL1 Gene

Genomics for ALKAL1 Gene

GeneHancer (GH) Regulatory Elements for ALKAL1 Gene

Promoters and enhancers for ALKAL1 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
GH08J052565 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 500.7 +0.1 60 1.6 USF1 TEAD4 ZIC2 GABPA ZBTB26 ZNF341 POLR2A EZH2 SP2 PHF8 ALKAL1 piR-33804-122
GH08J052628 Enhancer 1 Ensembl ENCODE 11.2 -63.4 -63380 2.9 ZNF217 SAP30 TEAD1 GATAD2B HDAC2 CTBP1 FOXA2 NR2F2 NFIC SAP130 ALKAL1 RB1CC1 LOC102724330 RF00017-7044 piR-60794-017 lnc-ALKAL1-3
GH08J052941 Promoter 0.9 CraniofacialAtlas 9.8 -375.9 -375880 0.6 CTCF ZBTB26 EZH2 SMC3 SP2 ZBTB17 ZNF263 YY1 GABPB1 ZNF777 lnc-RB1CC1-1 ALKAL1 NPBWR1 piR-33303-173
GH08J052687 Enhancer 0.7 Ensembl 10.2 -124.6 -124640 5.8 HES1 CTBP1 ADNP GATA2 MITF ZEB2 SMARCE1 TRIM28 USF2 L3MBTL2 ALKAL1 NPBWR1 RB1CC1 piR-40666-031 LOC105375835 lnc-ALKAL1-3
GH08J052939 Enhancer 0.7 ENCODE 9.8 -376.3 -376305 0.2 CTCF ZNF263 ZBTB26 RAD21 SMC3 ZBTB17 YY1 NFXL1 GATA3 ZNF335 lnc-RB1CC1-1 ALKAL1 piR-33303-173
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALKAL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALKAL1

Genomic Locations for ALKAL1 Gene

Genomic Locations for ALKAL1 Gene
chr8:52,534,037-52,565,461
(GRCh38/hg38)
Size:
31,425 bases
Orientation:
Minus strand
chr8:53,446,597-53,478,067
(GRCh37/hg19)
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-ALKL1_HUMAN
    Recommended name:
    ALK and LTK ligand 1
    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

  • Glycosylation at Thr85
  • Modification sites at PhosphoSitePlus

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

Gene Families for ALKAL1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for ALKAL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALKAL1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM150A (F150A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UXT8

UniProtKB/Swiss-Prot:

ALKL1_HUMAN :
  • Belongs to the ALKAL family.
Family:
  • Belongs to the ALKAL family.
genes like me logo Genes that share domains with ALKAL1: view

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.

Phenotypes From GWAS Catalog for ALKAL1 Gene

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

Clone Products

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 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALKAL1 Gene

Pathways & Interactions for ALKAL1 Gene

PathCards logo

SuperPathways for ALKAL1 Gene

No Data Available

Interacting Proteins for ALKAL1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q6UXT8-ALKL1_HUMAN ENSP00000351345 for ALKAL1 Gene via UniProtKB STRING IID

;

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

Drugs & Compounds for ALKAL1 Gene

No Compound Related Data Available

Transcripts for ALKAL1 Gene

mRNA/cDNA for ALKAL1 Gene

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

Clone Products

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

No ASD Table

Relevant External Links for ALKAL1 Gene

GeneLoc Exon Structure for
ALKAL1

Expression for ALKAL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALKAL1

mRNA Expression by UniProt/SwissProt for ALKAL1 Gene:

Q6UXT8-ALKL1_HUMAN
Tissue specificity: Widely expressed with highest levels in thyroid and moderate levels in stomach, trachea, small intestine, prostate and brain.

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 31 30
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC608857 30
  • 87.15 (n)
FAM150A 31
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam150a 31 30
  • 85.39 (n)
OneToOne
Alkal1 17
rat
(Rattus norvegicus)
Mammalia LOC100910984 30
  • 84.27 (n)
cow
(Bos Taurus)
Mammalia FAM150A 30
  • 81.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM150A 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM150A 31
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii FAM150A 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ALKAL1: view image

Paralogs for ALKAL1 Gene

No data available for Paralogs for ALKAL1 Gene

Variants for ALKAL1 Gene

Additional dbSNP identifiers (rs#s) for ALKAL1 Gene

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)

Additional Variant Information for ALKAL1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALKAL1 Gene

Disorders for ALKAL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALKAL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
paraphimosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALKAL1

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

No data available for 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 RH (eLife 2015) 2 3 4 54
  2. Augmentor α and β (FAM150) are ligands of the receptor tyrosine kinases ALK and LTK: Hierarchy and specificity of ligand-receptor interactions. (PMID: 26630010) Reshetnyak AV … Schlessinger J (Proceedings of the National Academy of Sciences of the United States of America 2015) 2 3 4 54
  3. ALKALs are in vivo ligands for ALK family receptor tyrosine kinases in the neural crest and derived cells. (PMID: 29317532) Fadeev A … Palmer RH (Proceedings of the National Academy of Sciences of the United States of America 2018) 2 3 54
  4. Deorphanization of the human leukocyte tyrosine kinase (LTK) receptor by a signaling screen of the extracellular proteome. (PMID: 25331893) Zhang H … Williams LT (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 54
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54

Products for ALKAL1 Gene

Sources for ALKAL1 Gene