Details for: ACTL7A

Gene ID: 10881

Symbol: ACTL7A

Ensembl ID: ENSG00000187003

Description: actin like 7A

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 8.24
    Marker Score: 53,074
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 3.76
    Marker Score: 6,850
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.16
    Marker Score: 3,185
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.63
    Marker Score: 10,815
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.25
    Marker Score: 7,550
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 1.22
    Marker Score: 3,660
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 1.06
    Marker Score: 32,733
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,833
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,064
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,408
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,351
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.81
    Marker Score: 742
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 405
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,266
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.6
    Marker Score: 744
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.48
    Marker Score: 284
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.25
    Marker Score: 3,899
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.23
    Marker Score: 134
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.14
    Marker Score: 270
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.11
    Marker Score: 225
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.09
    Marker Score: 110
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.09
    Marker Score: 180
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.09
    Marker Score: 91
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.07
    Marker Score: 423
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.06
    Marker Score: 39
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.05
    Marker Score: 24
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.05
    Marker Score: 15
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.05
    Marker Score: 15
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.04
    Marker Score: 21
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.04
    Marker Score: 33
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.04
    Marker Score: 24
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.03
    Marker Score: 17
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.03
    Marker Score: 53
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.03
    Marker Score: 17
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.03
    Marker Score: 13
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.03
    Marker Score: 16
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.02
    Marker Score: 58
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.02
    Marker Score: 14
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.02
    Marker Score: 10
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.02
    Marker Score: 17
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.01
    Marker Score: 16
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.01
    Marker Score: 11
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.01
    Marker Score: 14
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.01
    Marker Score: 15
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.01
    Marker Score: 37
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.01
    Marker Score: 15
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.01
    Marker Score: 26
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.01
    Marker Score: 18
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.01
    Marker Score: 11
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.01
    Marker Score: 15
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.01
    Marker Score: 43
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.01
    Marker Score: 17
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.01
    Marker Score: 15
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.01
    Marker Score: 17
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.01
    Marker Score: 9
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.01
    Marker Score: 54
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0
    Marker Score: 17
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0
    Marker Score: 13
  • Cell Name: neuron (CL0000540)
    Fold Change: 0
    Marker Score: 17
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0
    Marker Score: 16
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0
    Marker Score: 15
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0
    Marker Score: 17
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0
    Marker Score: 10
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0
    Marker Score: 16
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0
    Marker Score: 55
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0
    Marker Score: 12
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0
    Marker Score: 17
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0
    Marker Score: 10
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0
    Marker Score: 26
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0
    Marker Score: 11
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0
    Marker Score: 10

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ACTL7A is a member of the actin-like protein family, characterized by its ability to interact with actin and other cytoskeletal proteins. Its unique features include: 1. **Cytoskeletal organization:** ACTL7A plays a critical role in maintaining the organization and dynamics of the cytoskeleton, particularly in the context of cellular motility and division. 2. **Protein-protein interactions:** ACTL7A interacts with various proteins, including actin, tubulin, and myosin, to regulate cytoskeletal dynamics and cell signaling pathways. 3. **Cellular localization:** ACTL7A is predominantly expressed in cells with high motility, such as progenitor cells, microglial cells, and neurons, where it contributes to cellular migration and axon guidance. **Pathways and Functions:** ACTL7A is involved in several key cellular processes, including: 1. **Acrosome assembly and motility:** ACTL7A is essential for the assembly and regulation of acrosomal vesicles, which are critical for sperm motility and fertilization. 2. **Cytoskeleton organization:** ACTL7A regulates the organization and dynamics of the cytoskeleton, influencing cellular shape, motility, and division. 3. **Cell signaling:** ACTL7A interacts with other proteins to regulate cell signaling pathways, including those involved in cell growth, differentiation, and survival. 4. **Neurodevelopment:** ACTL7A is involved in neurodevelopment, particularly in the regulation of axon guidance and neuronal migration. **Clinical Significance:** Dysregulation of ACTL7A has been implicated in various diseases, including: 1. **Neurodegenerative disorders:** Mutations in ACTL7A have been associated with neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 2. **Cancer:** ACTL7A is overexpressed in several types of cancer, including breast cancer and colon cancer, and is associated with poor prognosis. 3. **Neurodevelopmental disorders:** ACTL7A is involved in neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 4. **Fertility issues:** ACTL7A is essential for sperm motility and fertilization, and dysregulation of ACTL7A has been implicated in infertility. In conclusion, ACTL7A is a critical component of the cytoskeleton, playing a pivotal role in maintaining cellular structure and function. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding the functions and significance of this gene. Further research is needed to elucidate the mechanisms by which ACTL7A regulates cellular processes and to develop therapeutic strategies for the treatment of diseases associated with ACTL7A dysfunction.

Genular Protein ID: 228657739

Symbol: ACL7A_HUMAN

Name: Actin-like protein 7A

UniProtKB Accession Codes:

Q9Y615 B2RC83 Q5JSV0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10373328

Title: 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.

PubMed ID: 10373328

DOI: 10.1006/geno.1999.5848

PubMed ID: 17644991

Title: Single nucleotide polymorphisms: discovery of the genetic causes of male infertility.

PubMed ID: 17644991

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21278383

Title: Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A.

PubMed ID: 21278383

DOI: 10.1074/jbc.m110.171264

PubMed ID: 32923619

Title: Disruption in ACTL7A causes acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrest.

PubMed ID: 32923619

DOI: 10.1126/sciadv.aaz4796

PubMed ID: 33626338

Title: Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.

PubMed ID: 33626338

DOI: 10.1016/j.ajhg.2021.02.004

Sequence Information:

  • Length: 435
  • Mass: 48644
  • Checksum: FE73995971B5600C
  • Sequence:
    • MWAPPAAIMG DGPTKKVGNQ APLQTQALQT ASLRDGPAKR AVWVRHTSSE PQEPTESKAA 
KERPKQEVTK AVVVDLGTGY CKCGFAGLPR PTHKISTTVG KPYMETAKTG DNRKETFVGQ 
ELNNTNVHLK LVNPLRHGII VDWDTVQDIW EYLFRQEMKI APEEHAVLVS DPPLSPHTNR 
EKYAEMLFEA FNTPAMHIAY QSRLSMYSYG RTSGLVVEVG HGVSYVVPIY EGYPLPSITG 
RLDYAGSDLT AYLLGLLNSA GNEFTQDQMG IVEDIKKKCC FVALDPIEEK KVPLSEHTIR 
YVLPDGKEIQ LCQERFLCSE MFFKPSLIKS MQLGLHTQTV SCLNKCDIAL KRDLMGNILL 
CGGSTMLSGF PNRLQKELSS MCPNDTPQVN VLPERDSAVW TGGSILASLQ GFQPLWVHRF 
EYEEHGPFFL YRRCF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.