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Aliases for ACTL7B Gene

Aliases for ACTL7B Gene

  • Actin Like 7B 2 3 5
  • Actin-Like-7-Beta 3 4
  • Testis Tissue Sperm-Binding Protein Li 43a 3
  • Actin-Like 7-Beta 3
  • Actin-Like 7B 3
  • Tact1 3

External Ids for ACTL7B Gene

Previous GeneCards Identifiers for ACTL7B Gene

  • GC09M102415
  • GC09M103349
  • GC09M105074
  • GC09M106996
  • GC09M108696
  • GC09M110657
  • GC09M111616
  • GC09M081216

Summaries for ACTL7B Gene

Entrez Gene Summary for ACTL7B Gene

  • The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTL7B Gene

ACTL7B (Actin Like 7B) is a Protein Coding gene. Diseases associated with ACTL7B include Dysautonomia and Hypertensive Nephropathy. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is ACTRT1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTL7B Gene

Genomics for ACTL7B Gene

Regulatory Elements for ACTL7B Gene

Enhancers for ACTL7B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACTL7B on UCSC Golden Path with GeneCards custom track

Genomic Location for ACTL7B Gene

Chromosome:
9
Start:
108,854,588 bp from pter
End:
108,856,967 bp from pter
Size:
2,380 bases
Orientation:
Minus strand

Genomic View for ACTL7B Gene

Genes around ACTL7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTL7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTL7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTL7B Gene

Proteins for ACTL7B Gene

  • Protein details for ACTL7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y614-ACL7B_HUMAN
    Recommended name:
    Actin-like protein 7B
    Protein Accession:
    Q9Y614
    Secondary Accessions:
    • B2R9Q2
    • Q5JSV1

    Protein attributes for ACTL7B Gene

    Size:
    415 amino acids
    Molecular mass:
    45234 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ACTL7B Gene

Proteomics data for ACTL7B Gene at MOPED

Post-translational modifications for ACTL7B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTL7B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTL7B Gene

Domains & Families for ACTL7B Gene

Protein Domains for ACTL7B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACTL7B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y614

UniProtKB/Swiss-Prot:

ACL7B_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTL7B: view

No data available for Gene Families for ACTL7B Gene

Function for ACTL7B Gene

Molecular function for ACTL7B Gene

GENATLAS Biochemistry:
actin-like 7B,located in a "head to head" orientation with ACTL7A from the HSAN3 region,only detected in testis and to a lasser extent in prostate,mouse A2p7b ortholog,ARP actin-related proteins superfamily

Phenotypes for ACTL7B Gene

GenomeRNAi human phenotypes for ACTL7B:
genes like me logo Genes that share phenotypes with ACTL7B: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACTL7B Gene

Localization for ACTL7B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTL7B Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACTL7B Gene COMPARTMENTS Subcellular localization image for ACTL7B gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACTL7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ACTL7B: view

Pathways & Interactions for ACTL7B Gene

SuperPathways for ACTL7B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACTL7B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ACTL7B Gene

Drugs & Compounds for ACTL7B Gene

No Compound Related Data Available

Transcripts for ACTL7B Gene

mRNA/cDNA for ACTL7B Gene

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

Unigene Clusters for ACTL7B Gene

Actin-like 7B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACTL7B Gene

No ASD Table

Relevant External Links for ACTL7B Gene

GeneLoc Exon Structure for
ACTL7B
ECgene alternative splicing isoforms for
ACTL7B

Expression for ACTL7B Gene

mRNA expression in normal human tissues for ACTL7B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTL7B Gene

This gene is overexpressed in Testis (x52.4).

Protein differential expression in normal tissues from HIPED for ACTL7B Gene

This gene is overexpressed in Testis (44.2) and Ovary (24.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACTL7B Gene



SOURCE GeneReport for Unigene cluster for ACTL7B Gene Hs.534390

mRNA Expression by UniProt/SwissProt for ACTL7B Gene

Q9Y614-ACL7B_HUMAN
Tissue specificity: Detected only in the testis and, to a lesser extent, in the prostate.
genes like me logo Genes that share expression patterns with ACTL7B: view

Protein tissue co-expression partners for ACTL7B Gene

- Elite partner

Primer Products

Orthologs for ACTL7B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACTL7B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACTL7B 35
  • 89.64 (n)
  • 89.4 (a)
ACTL7B 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTL7B 35
  • 82.6 (n)
  • 76.34 (a)
ACTL7B 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Actl7b 35
  • 85.02 (n)
  • 86.96 (a)
Actl7b 16
Actl7b 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACTL7B 35
  • 99.04 (n)
  • 98.8 (a)
ACTL7B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Actl7b 35
  • 85.83 (n)
  • 87.92 (a)
oppossum
(Monodelphis domestica)
Mammalia ACTL7B 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19566 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP2 36
  • 32 (a)
OneToMany
Species with no ortholog for ACTL7B:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for ACTL7B Gene

ENSEMBL:
Gene Tree for ACTL7B (if available)
TreeFam:
Gene Tree for ACTL7B (if available)

Paralogs for ACTL7B Gene

genes like me logo Genes that share paralogs with ACTL7B: view

Variants for ACTL7B Gene

Sequence variations from dbSNP and Humsavar for ACTL7B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1054395 -- 108,854,644(-) CAGAT(C/G)GCCAC utr-variant-3-prime
rs7864946 -- 108,856,516(+) GGTCC(C/T)GCCCA upstream-variant-2KB
rs7868985 -- 108,857,514(+) ATCCA(A/G)GCTCT upstream-variant-2KB
rs114143830 -- 108,854,894(+) GCATA(C/G)TGCAG reference, missense
rs114146670 -- 108,855,439(+) AGCTC(A/C/T)GCGTA reference, synonymous-codon

Variation tolerance for ACTL7B Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACTL7B Gene

Human Gene Mutation Database (HGMD)
ACTL7B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ACTL7B Gene

Disorders for ACTL7B Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACTL7B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dysautonomia
hypertensive nephropathy
  • nephropathy hypertensive
dysautonomia, familial
  • peripheral neuropathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ACTL7B

Human Genome Epidemiology (HuGE) Navigator
ACTL7B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACTL7B
genes like me logo Genes that share disorders with ACTL7B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACTL7B Gene

Publications for ACTL7B Gene

  1. Cloning, mapping, and expression of two novel actin genes, actin- like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. (PMID: 10373328) Chadwick B.P. … Slaugenhaupt S.A. (Genomics 1999) 2 3 4 23 67
  2. Methylation of CpG dinucleotides in the open reading frame of a testicular germ cell-specific intronless gene, Tact1/Actl7b, represses its expression in somatic cells. (PMID: 12907721) Hisano M. … Nozaki M. (Nucleic Acids Res. 2003) 2 3
  3. The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations. (PMID: 25293881) Patel Y.M. … Murphy S.E. (Cancer Epidemiol. Biomarkers Prev. 2015) 3
  4. Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy. (PMID: 23776197) Leandro-GarcA-a L.J. … RodrA-guez-Antona C. (J. Med. Genet. 2013) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for ACTL7B Gene

Sources for ACTL7B Gene

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