Aliases for AKIRIN1 Gene

Aliases for AKIRIN1 Gene

  • Akirin 1 2 3 5
  • Akirin-1 3 4
  • C1orf108 3 4
  • Chromosome 1 Open Reading Frame 108 2
  • STRF2 3

External Ids for AKIRIN1 Gene

Previous HGNC Symbols for AKIRIN1 Gene

  • C1orf108

Previous GeneCards Identifiers for AKIRIN1 Gene

  • GC01P039230
  • GC01P039456
  • GC01P037576

Summaries for AKIRIN1 Gene

GeneCards Summary for AKIRIN1 Gene

AKIRIN1 (Akirin 1) is a Protein Coding gene. An important paralog of this gene is AKIRIN2.

UniProtKB/Swiss-Prot Summary for AKIRIN1 Gene

  • Functions as signal transducer for MSTN during skeletal muscle regeneration and myogenesis. May regulate chemotaxis of both macrophages and myoblasts by reorganising actin cytoskeleton, leading to more efficient lamellipodia formation via a PI3 kinase dependent pathway.

Additional gene information for AKIRIN1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKIRIN1 Gene

Genomics for AKIRIN1 Gene

GeneHancer (GH) Regulatory Elements for AKIRIN1 Gene

Promoters and enhancers for AKIRIN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKIRIN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKIRIN1 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • NF-AT
  • NF-AT1
  • NF-AT2
  • Sp1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for AKIRIN1 Gene

Genomic Locations for AKIRIN1 Gene
chr1:38,991,244-39,006,065
(GRCh38/hg38)
Size:
14,822 bases
Orientation:
Plus strand
chr1:39,456,895-39,471,737
(GRCh37/hg19)
Size:
14,843 bases
Orientation:
Plus strand

Genomic View for AKIRIN1 Gene

Genes around AKIRIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKIRIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKIRIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKIRIN1 Gene

Proteins for AKIRIN1 Gene

  • Protein details for AKIRIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9L7-AKIR1_HUMAN
    Recommended name:
    Akirin-1
    Protein Accession:
    Q9H9L7
    Secondary Accessions:
    • B4DZU6
    • Q0VDB3
    • Q53FK8

    Protein attributes for AKIRIN1 Gene

    Size:
    192 amino acids
    Molecular mass:
    21867 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 'Akiraka ni suru' means 'making things clear' in Japanese. The name is given based on the presence of the clear nuclear localization signal.
    SequenceCaution:
    • Sequence=AAI19747.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AKIRIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKIRIN1 Gene

Post-translational modifications for AKIRIN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKIRIN1 Gene

No data available for DME Specific Peptides for AKIRIN1 Gene

Domains & Families for AKIRIN1 Gene

Gene Families for AKIRIN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AKIRIN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKIRIN1 Gene

GenScript: Design optimal peptide antigens:
  • Akirin-1 (AKIR1_HUMAN)
  • cDNA FLJ54126 (B4DQP0_HUMAN)
  • cDNA FLJ54208 (B4DZU6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H9L7

UniProtKB/Swiss-Prot:

AKIR1_HUMAN :
  • Belongs to the akirin family.
Family:
  • Belongs to the akirin family.
genes like me logo Genes that share domains with AKIRIN1: view

Function for AKIRIN1 Gene

Molecular function for AKIRIN1 Gene

UniProtKB/Swiss-Prot Function:
Functions as signal transducer for MSTN during skeletal muscle regeneration and myogenesis. May regulate chemotaxis of both macrophages and myoblasts by reorganising actin cytoskeleton, leading to more efficient lamellipodia formation via a PI3 kinase dependent pathway.

Phenotypes From GWAS Catalog for AKIRIN1 Gene

Gene Ontology (GO) - Molecular Function for AKIRIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with AKIRIN1: view
genes like me logo Genes that share phenotypes with AKIRIN1: view

Animal Models for AKIRIN1 Gene

MGI Knock Outs for AKIRIN1:

Animal Model Products

CRISPR Products

miRNA for AKIRIN1 Gene

miRTarBase miRNAs that target AKIRIN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKIRIN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKIRIN1 Gene

Localization for AKIRIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKIRIN1 Gene

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 AKIRIN1 gene
Compartment Confidence
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKIRIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 18066067
GO:0005654 nucleoplasm IDA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with AKIRIN1: view

Pathways & Interactions for AKIRIN1 Gene

PathCards logo

SuperPathways for AKIRIN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AKIRIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010592 positive regulation of lamellipodium assembly ISS --
GO:0010759 positive regulation of macrophage chemotaxis ISS --
GO:0014839 myoblast migration involved in skeletal muscle regeneration ISS --
GO:0045663 positive regulation of myoblast differentiation ISS --
GO:1902723 negative regulation of skeletal muscle satellite cell proliferation ISS --
genes like me logo Genes that share ontologies with AKIRIN1: view

No data available for Pathways by source and SIGNOR curated interactions for AKIRIN1 Gene

Drugs & Compounds for AKIRIN1 Gene

No Compound Related Data Available

Transcripts for AKIRIN1 Gene

mRNA/cDNA for AKIRIN1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKIRIN1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKIRIN1 Gene

No ASD Table

Relevant External Links for AKIRIN1 Gene

GeneLoc Exon Structure for
AKIRIN1
ECgene alternative splicing isoforms for
AKIRIN1

Expression for AKIRIN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AKIRIN1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AKIRIN1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AKIRIN1 Gene:

AKIRIN1

SOURCE GeneReport for Unigene cluster for AKIRIN1 Gene:

Hs.293563

mRNA Expression by UniProt/SwissProt for AKIRIN1 Gene:

Q9H9L7-AKIR1_HUMAN
Tissue specificity: Widely expressed with the highest expression in heart, liver, placenta and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for AKIRIN1 Gene

  • Nervous system(4)
  • Muscle(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with AKIRIN1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKIRIN1 Gene

Orthologs for AKIRIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AKIRIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKIRIN1 32
  • 99.83 (n)
cow
(Bos Taurus)
Mammalia AKIRIN1 33 32
  • 95.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AKIRIN1 33 32
  • 92.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Akirin1 32
  • 89.01 (n)
mouse
(Mus musculus)
Mammalia Akirin1 17 33 32
  • 88.13 (n)
oppossum
(Monodelphis domestica)
Mammalia AKIRIN1 33
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKIRIN1 33
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akirin1 32
  • 74.2 (n)
Str.16846 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.4204 32
zebrafish
(Danio rerio)
Actinopterygii akirin1 33 32
  • 66.67 (n)
OneToOne
wufa96c11 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1697 32
fruit fly
(Drosophila melanogaster)
Insecta akirin 33
  • 33 (a)
OneToMany
Species where no ortholog for AKIRIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 AKIRIN1 Gene

ENSEMBL:
Gene Tree for AKIRIN1 (if available)
TreeFam:
Gene Tree for AKIRIN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKIRIN1: view image

Paralogs for AKIRIN1 Gene

Paralogs for AKIRIN1 Gene

(1) SIMAP similar genes for AKIRIN1 Gene using alignment to 3 proteins:

  • AKIR1_HUMAN
  • B4DQP0_HUMAN
  • H0YEQ5_HUMAN

Pseudogenes.org Pseudogenes for AKIRIN1 Gene

genes like me logo Genes that share paralogs with AKIRIN1: view

Variants for AKIRIN1 Gene

Sequence variations from dbSNP and Humsavar for AKIRIN1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000015835 -- 38,997,032(+) G/T intron_variant
rs1000620110 -- 38,990,094(+) AA/A upstream_transcript_variant
rs1000827724 -- 38,994,453(+) T/C intron_variant
rs1001049762 -- 38,989,826(+) G/T upstream_transcript_variant
rs1001262162 -- 39,002,025(+) A/C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AKIRIN1 Gene

Variant ID Type Subtype PubMed ID
nsv1078352 CNV deletion 25765185
nsv1160833 CNV duplication 26073780
nsv478091 CNV novel sequence insertion 20440878
nsv945887 CNV duplication 23825009

Variation tolerance for AKIRIN1 Gene

Residual Variation Intolerance Score: 41.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKIRIN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKIRIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKIRIN1 Gene

Disorders for AKIRIN1 Gene

Additional Disease Information for AKIRIN1

No disorders were found for AKIRIN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AKIRIN1 Gene

Publications for AKIRIN1 Gene

  1. Evolution of the multifaceted eukaryotic akirin gene family. (PMID: 19200367) Macqueen DJ … Johnston IA (BMC evolutionary biology 2009) 2 3 56
  2. Akirins are highly conserved nuclear proteins required for NF-kappaB-dependent gene expression in drosophila and mice. (PMID: 18066067) Goto A … Reichhart JM (Nature immunology 2008) 3 4 56
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. 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

Products for AKIRIN1 Gene

Sources for AKIRIN1 Gene