Details for: RBM44

Gene ID: 375316

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: RBM44

Ensembl ID: ENSG00000177483

Description: RNA binding motif protein 44

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • neural progenitor cell CL0011020
    CSI 2.13
    rCSI 9.37%
    PRS 99.08

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.
Network Configuration

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  • Node Color (Target Cell CSI, relative to current network):
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    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [RBM44](/details-gene/375316) (RNA Binding Motif Protein 44) is a protein-coding gene located on chromosome 2q37.3. The protein product is an RNA-binding protein implicated in post-transcriptional gene regulation. Functional annotations suggest a primary role in mRNA processing, specifically as a component of the catalytic step 2 spliceosome involved in mRNA splicing, as well as binding to the 3'-untranslated region (3'-UTR) of mRNA. **Overall**, expression data indicates that [RBM44](/details-gene/375316) has its most significant expression in [neural progenitor cells](/details-cell/CL0011020), suggesting a potential role in the regulation of neurogenesis. The gene's initial characterization was supported by large-scale cDNA sequencing projects ([Link](https://doi.org/10.1101/gr.2596504), [Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1038/nature03466)). ## Cellular Roles and Expression Landscape The available expression data highlights [RBM44](/details-gene/375316) as a gene with significant expression in [neural progenitor cells](/details-cell/CL0011020) (CSI: 2.13). This specific expression pattern suggests that [RBM44](/details-gene/375316) may be involved in critical cellular processes unique to these cells, such as maintaining the balance between self-renewal and differentiation during nervous system development. Given its function in RNA processing, it may play a role in regulating the expression of key developmental genes required for cell fate decisions. The current dataset is limited, and a broader analysis across more cell types is needed to fully define its expression landscape and determine its specificity. ## Pathways and Molecular Function The functional annotations for [RBM44](/details-gene/375316) point to a multi-faceted role in post-transcriptional gene regulation. * **mRNA Splicing:** [RBM44](/details-gene/375316) is a component of the catalytic step 2 spliceosome ([GO:0071013](https://www.ebi.ac.uk/QuickGO/term/GO:0071013)), indicating a direct function in the process of [mRNA splicing, via spliceosome](/details-go/GO:0000398). This role is fundamental for generating mature mRNA transcripts and for regulating gene expression through alternative splicing. * **mRNA Stability and Translation:** Its molecular function includes [mRNA 3'-UTR binding](/details-go/GO:0003730), which is a key mechanism for controlling mRNA stability, subcellular localization, and translational efficiency. This suggests [RBM44](/details-gene/375316) can fine-tune protein levels by interacting with specific target transcripts. * **Protein Complex Formation:** The protein is also annotated with [protein homodimerization activity](/details-go/GO:0042803), implying it may function as a dimer or as part of a larger ribonucleoprotein (RNP) complex to carry out its regulatory roles. * **Cellular Localization:** Its presence in the [cytoplasm](/details-go/GO:0005737) and [intercellular bridge](/details-go/GO:0045171) is consistent with roles in post-transcriptional control and potentially in processes related to cell division and communication between daughter cells. The combination of these functions is highly relevant to its expression in [neural progenitor cells](/details-cell/CL0011020), where precise spatiotemporal control of gene expression via alternative splicing and mRNA regulation is essential for proper neuronal development. ## Research Directions The specific expression of [RBM44](/details-gene/375316) in [neural progenitor cells](/details-cell/CL0011020) and its established role in RNA processing provides a foundation for several testable hypotheses and future research avenues. **Proposed Hypotheses:** 1. [RBM44](/details-gene/375316) regulates neuronal differentiation by controlling the alternative splicing of key transcripts essential for cell fate determination, such as those encoding transcription factors or synaptic proteins. 2. By binding to the 3'-UTR of specific mRNAs, [RBM44](/details-gene/375316) modulates their stability to maintain the proliferative state of [neural progenitor cells](/details-cell/CL0011020) and its downregulation is required for terminal differentiation. **Experimental Approach:** To test the first hypothesis, a directed experimental approach could be employed. One could utilize CRISPR-Cas9 to knock down or knock out [RBM44](/details-gene/375316) in a human induced pluripotent stem cell (iPSC)-derived [neural progenitor cell](/details-cell/CL0011020) culture. Following perturbation, deep RNA-sequencing could be performed to identify genome-wide changes in splicing patterns compared to control cells. Specific splicing events identified bioinformatically could then be validated by RT-PCR. The functional consequence of [RBM44](/details-gene/375316) loss on neurogenesis could be assessed by monitoring changes in cell morphology and quantifying the expression of lineage-specific markers for progenitor cells (e.g., SOX2, PAX6) and mature neurons (e.g., MAP2, TUBB3) via immunofluorescence or western blotting. **Therapeutic Potential:** The therapeutic potential of [RBM44](/details-gene/375316) is currently speculative due to limited data linking it directly to human disease. However, dysregulation of splicing factors and RNA-binding proteins is a known driver in various neurological disorders and cancers. Given its specific expression in [neural progenitor cells](/details-cell/CL0011020), [RBM44](/details-gene/375316) could represent a future area of investigation for developmental brain disorders or cancers with neurodevelopmental origins, such as medulloblastoma. Further research is required to determine whether it is over- or under-expressed in a disease context, which would dictate whether therapeutic strategies should focus on inhibition or activation.

Genular Protein ID: 526917783

Symbol: RBM44_HUMAN

Name: RNA-binding protein 44

UniProtKB Accession Codes:

Q6ZP01 A0A0A0MR46 A0AUW3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 EMBL 3 Ensembl 2 GO 6 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 1051
  • Mass: 117985
  • Checksum: 45400796EEAF1415
  • Sequence:
    • MQATAVVETA SGKGYHSNGG NLQKDKPSNP KKENLLLSSN GCDEVKLTFP DDDWNSSTLE 
QRANNKEISN IDKMDLLEPF FSVSQDTNTE STQFQSSELE DSTDYAFLNK TYSIPYSESK 
LKKESLTPLS SELDPEVQKK EEVFFNILEH QDKTVGLERI YNISDANYRE SAEDTQKHDT 
DEDSQQEYHS AEEQEYISNH LSFDQTKALD ISNPEVVELG NSGYEVKCAS NVEDNRVNSG 
SGSIISFDSL DVYGQEESLH VSKFQNSVML REYHDLKHEK YKEQETNSMY HTVFDGSVLR 
SNSPGNQESQ SKSGSLSPQK VLKMKIYTEN MKSQINEGKD FCGNKIVENK ILLHLENPST 
LPQDKALETL LQPCKDCQTS WTSVFDDSII SACGYYESLQ NTADSALDFS AMLPKIAVRD 
NQAIEDNTSL KVAHSSTTKK TCFHNIGEMC TKSLTDAASC TVTINQTVDV STDFRACFTT 
SRATSARPSV VSTSSNTEIT MMNKKRPDEW QNEKQKSVAC STDWSYSEDC IDTQMAITKG 
SGKSLSVDSL KPNGNFLNKD FLELRKACGI TDLKKHPERE FQLFKDTEKD LPSMCCQKIM 
QRAIKAELHL LNVHYQMCRR HCCDIYKLVM ENREGLNMNL SSNSAKKELG SALLSLLGDL 
KVRYVTLKEK IHKGIPLEEL PPLSLESKLL STFSTFASRL MKKETHVFSE ADAEQDNQRA 
HDVDVSSNLK KTLSQMSLSS DNSHATQNIS PKKDDFKNGD INADFSQLKL GDKDCRHYQE 
TSEDWSDAKE SLTGVDVSGT QGNQVEQDTW NLDLTGEMKN VEPSQRDKGY LIHVGGLCPS 
VSEADLRSHF QKYQVSEISI YDSTNYRYAS LAFTKNSDAK IAVKEMNGIE INGKSVNVWP 
VKILGEYTSP LSSKNGNRIS SNNLEKSTNK QIHSEFSISR LPRTRPRQLG SEQDSEVFPS 
DQGVKKNCKQ IESAKLLPDT PVQFIPPNTL NLRSFTKIIK RLAELHPEVS RDHIINALQE 
VRIRHKGFLN GLSITTIVEM TSSLLKNSAS S

Genular Protein ID: 1065211440

Symbol: Q8N7S3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8N7S3

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 PharmGKB 1 RefSeq 1 SAM 1

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 644
  • Mass: 72655
  • Checksum: 8BB7AA8A350FEFFE
  • Sequence:
    • MMQATAVVET ASGKGYHSNG GNLQKDKPSN PKKENLLLSS NGCDEVKLTF PDDDWNSSTL 
EQRANNKEIS NIDKMDLLEP FFSVSQDTNT ESTQFQSSEL EDSTDYAFLN KTYSIPYSES 
KLKKESLTPL SSELDPEVQK KEEVFFNILE HQDKTVGLER IYNISDANYR ESAEDTQKHD 
TDEDSQQEYH SAEEQEYISN HLSFDQTKAL DISNPEVVEL GNSGYEVRCA SNVEDNRVNS 
GSGSIISFDS LDVYGQEESL HVSKFQNSVM LREYHDLKHE KYKEQETNSM YHTVFDGSVL 
RSNSPGNQES QSKSGSLSPQ KVLKMKIYTE NMKSQINEGK DFCGNKIVEN KILLHLENPS 
TLPQDKALET LLQPCKDCQT SWTSVFDDSI ISACGYYESL QNTADSALDF SAMLPKIAVR 
DNQAIEDNTS LKVAHSSTTK KTCFHNIGEM CTKSLTDAAS CTVTINQTVD VSTDFRACFT 
TSRATSARPS VVSTSSNTEI TMMNKKRPDE WQNEKQKSVA CSTDWSYSED CIDTQMAITK 
GSGKSLSVDS LKPNGNFLNK DFLELRKACG ITDLKKHPER EFQLFKDTEK DLPSMCCQKI 
MQRAIKAELH LLNVHYQMCR RHCCDIYKLV MENREGLNMC LLIS