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 migrati... See more...

Aliases for ACTL7B Gene

Aliases for ACTL7B Gene

  • Actin Like 7B 2 3 5
  • Actin-Like Protein 7B 3 4
  • Tact1 2 3
  • Testis Tissue Sperm-Binding Protein Li 43a 3
  • Actin-Like 7-Beta 3
  • Actin-Like-7-Beta 4
  • ACTL7B 5

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. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is ACTL7A.

Additional gene information for ACTL7B 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 ACTL7B Gene

Genomics for ACTL7B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACTL7B 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
GH09J108857 Enhancer 0.3 Ensembl 600.7 -1.8 -1815 1.2 SPI1 ACTL7B CTNNAL1 ELP1 ACTL7A
GH09J108854 Enhancer 0.2 Ensembl 600.7 +1.1 1085 0.2 ACTL7B RF00017-7801
GH09J108883 Enhancer 1.1 Ensembl ENCODE 11.7 -30.4 -30433 8.1 HNRNPL GATAD2A ATF7 TFE3 SOX13 NFKBIZ RCOR2 POLR2A JUND STAT3 CTNNAL1 ELP1 FRRS1L ACTL7A ACTL7B ABITRAM EPB41L4B TMEM245 RPL31P43 NONHSAG053162.2
GH09J108776 Enhancer 0.8 Ensembl ENCODE 10.9 +78.8 78836 1.3 CEBPG CTCF ZNF7 RBFOX2 HDAC1 SOX6 CEBPA SCRT2 HES1 FOXA2 ACTL7B ACTL7A HSALNG0073579 RPL36AP35 lnc-ACTL7A-4
GH09J109064 Enhancer 0.8 Ensembl ENCODE 9.7 -209.8 -209760 3.7 SP1 CEBPB JUN JUND MAX CTCF EP300 FOSL2 STAT3 MAFK RF00017-7805 FRRS1L ELP1 ENSG00000199331 TMEM245 CTNNAL1 ACTL7B lnc-CTNNAL1-1 RF00017-7803
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTL7B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTL7B

Top Transcription factor binding sites by QIAGEN in the ACTL7B gene promoter:
  • ATF-2
  • CRE-BP1
  • E2F
  • E2F-1
  • HEN1
  • HNF-1
  • HNF-1A
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx2-5

Genomic Locations for ACTL7B Gene

Genomic Locations for ACTL7B Gene
chr9:108,854,588-108,855,986
(GRCh38/hg38)
Size:
1,399 bases
Orientation:
Minus strand
chr9:111,616,868-111,619,239
(GRCh37/hg19)
Size:
2,372 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

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

Gene Families for ACTL7B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ACTL7B Gene

InterPro:
Blocks:
  • Actin/actin-like
ProtoNet:

Suggested Antigen Peptide Sequences for ACTL7B Gene

GenScript: Design optimal peptide antigens:
  • Actin-like-7-beta (ACL7B_HUMAN)

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

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 From GWAS Catalog for ACTL7B Gene

Gene Ontology (GO) - Molecular Function for ACTL7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 10373328
genes like me logo Genes that share ontologies with ACTL7B: view
genes like me logo Genes that share phenotypes with ACTL7B: view

Animal Models for ACTL7B Gene

MGI Knock Outs for ACTL7B:
  • Actl7b Actl7b<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL7B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 ACTL7B gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 3
plasma membrane 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACTL7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005869 dynactin complex IBA 21873635
GO:0015629 actin cytoskeleton TAS,IBA 21873635
genes like me logo Genes that share ontologies with ACTL7B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTL7B Gene

Pathways & Interactions for ACTL7B Gene

PathCards logo

SuperPathways for ACTL7B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACTL7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with ACTL7B: view

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL7B

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

No ASD Table

Relevant External Links for ACTL7B Gene

GeneLoc Exon Structure for
ACTL7B

Expression for ACTL7B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ACTL7B Gene



Protein tissue co-expression partners for ACTL7B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTL7B

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.

Evidence on tissue expression from TISSUES for ACTL7B Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ACTL7B: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTL7B Gene

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
Chimpanzee
(Pan troglodytes)
Mammalia ACTL7B 30 31
  • 99.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACTL7B 30 31
  • 89.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Actl7b 30
  • 85.83 (n)
Mouse
(Mus musculus)
Mammalia Actl7b 30 17 31
  • 85.02 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACTL7B 30 31
  • 82.6 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACTL7B 31
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19566 30
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP2 31
  • 32 (a)
OneToMany
Species where no ortholog for ACTL7B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ACTL7B: view image

Paralogs for ACTL7B Gene

(23) SIMAP similar genes for ACTL7B Gene using alignment to 2 proteins:

  • ACL7B_HUMAN
  • L8EAJ2_HUMAN
genes like me logo Genes that share paralogs with ACTL7B: view

Variants for ACTL7B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTL7B Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
788593 Benign: not provided 108,855,142(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ACTL7B Gene

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)

Additional Variant Information for ACTL7B Gene

Human Gene Mutation Database (HGMD)
ACTL7B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(2) MalaCards diseases for ACTL7B Gene - From: GeneCards

Disorder Aliases PubMed IDs
dysautonomia
hypertensive nephropathy
  • hnp1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 BP … Slaugenhaupt SA (Genomics 1999) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  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
  5. 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 research 2003) 2 3

Products for ACTL7B Gene

  • Signalway Proteins for ACTL7B

Sources for ACTL7B Gene