Details for: ACTL9

Gene ID: 284382

Symbol: ACTL9

Ensembl ID: ENSG00000181786

Description: actin like 9

Associated with

Cells (max top 100)

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

  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.1380
    Cell Significance Index: 1.5000
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.1107
    Cell Significance Index: 0.7700
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.1046
    Cell Significance Index: 1.2000
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.0404
    Cell Significance Index: 0.5300
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: 0.0091
    Cell Significance Index: 0.1800
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.0072
    Cell Significance Index: 0.0800
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.0058
    Cell Significance Index: 0.0800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0045
    Cell Significance Index: 0.0600
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: 0.0005
    Cell Significance Index: 0.0000
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0010
    Cell Significance Index: -0.0200
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: -0.0026
    Cell Significance Index: -0.0300
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.0071
    Cell Significance Index: -0.0700
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.0090
    Cell Significance Index: -0.1200
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.0094
    Cell Significance Index: -0.1000
  • Cell Name: naive B cell (CL0000788)
    Fold Change: -0.0113
    Cell Significance Index: -0.1200
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0134
    Cell Significance Index: -0.1700
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0148
    Cell Significance Index: -0.1800
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.0154
    Cell Significance Index: -0.1800
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0173
    Cell Significance Index: -0.2400
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.0201
    Cell Significance Index: -0.2200
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: -0.0209
    Cell Significance Index: -0.1500
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0223
    Cell Significance Index: -0.2900
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: -0.0235
    Cell Significance Index: -0.2400
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: -0.0250
    Cell Significance Index: -0.2500
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: -0.0294
    Cell Significance Index: -0.2600
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.0301
    Cell Significance Index: -0.3600
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.0309
    Cell Significance Index: -0.2800
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: -0.0341
    Cell Significance Index: -0.3500
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: -0.0348
    Cell Significance Index: -0.3800
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: -0.0424
    Cell Significance Index: -0.3200
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.0449
    Cell Significance Index: -0.5400
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.0462
    Cell Significance Index: -0.5400
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: -0.0504
    Cell Significance Index: -0.5300
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.0543
    Cell Significance Index: -0.3500
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0556
    Cell Significance Index: -0.5900
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.0577
    Cell Significance Index: -0.3800
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0646
    Cell Significance Index: -0.3800
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.0684
    Cell Significance Index: -0.8400
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: -0.0883
    Cell Significance Index: -0.9100
  • Cell Name: macrophage (CL0000235)
    Fold Change: -0.0949
    Cell Significance Index: -0.9700
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.0958
    Cell Significance Index: -1.1300
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: -0.0958
    Cell Significance Index: -1.1400
  • Cell Name: group 3 innate lymphoid cell, human (CL0001078)
    Fold Change: -0.1035
    Cell Significance Index: -0.9700
  • Cell Name: fibroblast (CL0000057)
    Fold Change: -0.1048
    Cell Significance Index: -0.9800
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: -0.1216
    Cell Significance Index: -1.1300
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: -0.1261
    Cell Significance Index: -1.1100
  • Cell Name: malignant cell (CL0001064)
    Fold Change: -0.1966
    Cell Significance Index: -1.0500

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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:** 1. **Structural homology:** ACTL9 shares structural homology with actin, a fundamental component of the cytoskeleton, suggesting its involvement in actin-based processes. 2. **Acrosomal and sperm head localization:** ACTL9 is specifically localized to the acrosome and sperm head, indicating its role in fertilization and sperm motility. 3. **Nuclear localization:** ACTL9 is also found in the nucleus, where it associates with histone acetyltransferase complexes, suggesting its potential role in regulating gene expression. **Pathways and Functions:** 1. **Actin filament organization:** ACTL9 is involved in the organization and regulation of actin filaments, which are essential for cellular motility and structure. 2. **Cell motility:** ACTL9 contributes to cell motility by regulating the dynamics of actin filaments, which is critical for processes such as fertilization, wound healing, and immune cell migration. 3. **Sperm motility:** ACTL9 is essential for sperm motility, as it regulates the organization and dynamics of actin filaments in the sperm head. 4. **Cytoplasmic organization:** ACTL9 also plays a role in organizing the cytoplasm, which is critical for maintaining cellular homeostasis and regulating protein trafficking. 5. **Gene expression regulation:** ACTL9 associates with histone acetyltransferase complexes, suggesting its potential role in regulating gene expression and maintaining genome stability. **Clinical Significance:** 1. **Immunological disorders:** ACTL9 has been implicated in various immunological disorders, including multiple sclerosis and rheumatoid arthritis, where impaired actin-based processes contribute to disease pathology. 2. **Fertility issues:** ACTL9 dysfunction has been linked to male infertility, as it regulates sperm motility and structure. 3. **Neurological disorders:** ACTL9 has been implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease, where impaired actin-based processes contribute to disease pathology. 4. **Cancer:** ACTL9 has been identified as a potential oncogene, as its overexpression has been linked to cancer progression and metastasis. In conclusion, ACTL9 is a multifunctional protein that plays a critical role in maintaining cellular structure and motility. Its dysregulation has been implicated in various diseases, including immunological disorders, fertility issues, and neurological disorders. Further research is needed to fully elucidate the mechanisms by which ACTL9 regulates cellular processes and to explore its therapeutic potential in disease treatment.

Genular Protein ID: 722114504

Symbol: ACTL9_HUMAN

Name: Actin-like protein 9

UniProtKB Accession Codes:

Q8TC94 A8K893 Q6X960

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 1 GO 16 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

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: 416
  • Mass: 45516
  • Checksum: B4CE3043F99E2195
  • Sequence:
    • MDASRPKSSE SQSSLEAPRP GPNPSPNVVN KPLQRDSPGM VADRLPPKTG AVVIDMGTGT 
CKVGFAGQAS PTYTVATILG CQPKKPATSG QSGLQTFIGE AARVLPELTL VQPLRSGIVV 
DWDAAELIWR HLLEHDLRVA THDHPLLFSD PPFSPATNRE KLVEVAFESL RSPAMYVASQ 
SVLSVYAHGR VSGLVVDTGH GVTYTVPVFQ GYNLLHATER LDLAGNNLTA FLAEMLLQAG 
LPLGQQDLDL VENIKHHYCY VASDFQKEQA RPEQEYKRTL KLPDGRTVTL GKELFQCPEL 
LFNPPEVPGL SPVGLSTMAK QSLRKLSLEM RADLAQNVLL CGGSSLFTGF EGRFRAELLR 
ALPAETHVVV AAQPTRNFSV WIGGSILASL RAFQSCWVLR EQYEEQGPYI VYRKCY

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.