Details for: AKNAD1

Gene ID: 254268

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: AKNAD1

Ensembl ID: ENSG00000162641

Description: AKNA domain containing 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • melanocyte CL0000148
    CSI 4.19
    rCSI 3.11%
    PRS 98.69
  • alveolar adventitial fibroblast CL4028006
    CSI 4.02
    rCSI 6.35%
    PRS 99.63
  • neural crest cell CL0011012
    CSI 4.02
    rCSI 3.17%
    PRS 98.89
  • rod bipolar cell CL0000751
    CSI 3.43
    rCSI 6.17%
    PRS 98.05
  • mesothelial cell CL0000077
    CSI 3.18
    rCSI 12.45%
    PRS 96.94
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 3.15
    rCSI 3.63%
    PRS 97.89
  • retinal bipolar neuron CL0000748
    CSI 3.02
    rCSI 5.65%
    PRS 97.56
  • glioblast CL0000030
    CSI 2.27
    rCSI 3.61%
    PRS 97.84
  • cardiac muscle cell CL0000746
    CSI 2.16
    rCSI 3.1%
    PRS 97.57
  • S cone cell CL0003050
    CSI 1.67
    rCSI 7.35%
    PRS 98.2
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.96
    rCSI 3.64%
    PRS 96.86
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.96
    rCSI 23.22%
    PRS 95.72
  • direct pathway medium spiny neuron CL4023026
    CSI 0.94
    rCSI 22.54%
    PRS 95.82

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

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • 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 [AKNAD1](/details-gene/254268), or AKNA domain containing 1, is a protein-coding gene located on chromosome 1p13.3. Its function is not well-characterized, though it is annotated as being involved in protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). Expression data suggests that [AKNAD1](/details-gene/254268) is a significant gene in a diverse set of cell types, with particularly high significance in [melanocyte](/details-cell/CL0000148)s, certain fibroblast populations, and various cells of the nervous system, especially those within the retina. This expression pattern points towards potential roles in cellular development, pigmentation, and specialized neuronal functions. The gene was identified and characterized through large-scale cDNA sequencing projects [Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1186/1471-2164-8-399). ## Cellular Roles and Expression Landscape The **Overall** expression profile of [AKNAD1](/details-gene/254268) highlights its significance in several distinct cellular lineages. The gene shows the highest cell significance index (CSI) in [melanocyte](/details-cell/CL0000148)s (CSI: 4.19) and their developmental precursors, [neural crest cell](/details-cell/CL0011012)s (CSI: 4.02), suggesting a potential role in the specification or function of pigment-producing cells. Furthermore, [AKNAD1](/details-gene/254268) is prominently expressed in various structural and developmental cell types, including [alveolar adventitial fibroblast](/details-cell/CL4028006) (CSI: 4.02) and [mesothelial cell](/details-cell/CL0000077) (CSI: 3.18). A strong association with the nervous system is also evident. High significance scores are observed in multiple retinal cell types, such as [rod bipolar cell](/details-cell/CL0000751) (CSI: 3.43), [retinal bipolar neuron](/details-cell/CL0000748) (CSI: 3.02), and [S cone cell](/details-cell/CL0003050) (CSI: 1.67). Its expression in progenitor cells like [neuroblast (sensu Nematoda and Protostomia)](/details-cell/CL0000338) (CSI: 3.15) and [glioblast](/details-cell/CL0000030) (CSI: 2.27), as well as in differentiated cortical and striatal neurons like [direct pathway medium spiny neuron](/details-cell/CL4023026) (CSI: 0.94), suggests a broad but specific role in both the developing and mature central nervous system. ## Pathways and Molecular Function The functional annotation for [AKNAD1](/details-gene/254268) is currently limited, with its primary known molecular function being protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). This suggests that [AKNAD1](/details-gene/254268) likely functions as an adapter or scaffold protein, assembling multi-protein complexes to mediate specific cellular processes. The identity of its binding partners and the downstream signaling pathways it regulates in the diverse cell types where it is expressed—such as melanocytes or retinal neurons—remain to be elucidated. ## Research Directions The specific expression pattern of [AKNAD1](/details-gene/254268) in distinct cell lineages, combined with its uncharacterized function, presents several avenues for future research. ### Proposed Hypotheses: 1. Given its high significance in [melanocyte](/details-cell/CL0000148)s and their [neural crest cell](/details-cell/CL0011012) precursors, [AKNAD1](/details-gene/254268) may function as a key regulator of melanogenesis or melanocyte differentiation. It could act as a scaffold protein that organizes enzymatic complexes required for melanin synthesis or participates in the signaling pathways governing melanocyte development. 2. The consistent high expression of [AKNAD1](/details-gene/254268) across multiple specialized retinal neurons, including [rod bipolar cell](/details-cell/CL0000751)s and [S cone cell](/details-cell/CL0003050)s, suggests it plays a role in visual signal processing. It may be involved in organizing protein complexes at the synapse, regulating neurotransmitter release, or maintaining the structural integrity of these highly specialized cells. ### Key Experimental Approach: To test the hypothesis regarding its role in melanocyte biology, a loss-of-function study could be performed. CRISPR-Cas9 could be used to knock out [AKNAD1](/details-gene/254268) in a human melanoma cell line or in primary human melanocytes. The resulting cells would then be assayed for changes in key cellular processes, including proliferation rates, melanin production (via spectrophotometric assay), and the expression of critical melanocyte lineage markers (e.g., TYR, MITF) by qRT-PCR and western blotting. To identify its molecular partners, co-immunoprecipitation of endogenous AKNAD1 followed by mass spectrometry (Co-IP-MS) could be performed to reveal the protein complexes it forms. ### Therapeutic Potential: The high and specific expression of [AKNAD1](/details-gene/254268) in [melanocyte](/details-cell/CL0000148)s suggests it could be a relevant molecule in the context of melanoma. If further research demonstrates that its protein-binding function contributes to tumor cell survival or proliferation, it could represent a novel therapeutic target. As an intracellular protein, it would likely be amenable to targeting with small molecule inhibitors designed to disrupt its protein-protein interactions. Further investigation into its expression levels across different melanoma subtypes is warranted to assess its potential as a prognostic biomarker or a target for inhibition.

Genular Protein ID: 3491495555

Symbol: AKND1_HUMAN

Name: Protein AKNAD1

UniProtKB Accession Codes:

Q5T1N1 B9EK62 Q5T1N0 Q8N990 Q8NCN9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 4 ExpressionAtlas 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 1 SMR 1 STRING 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: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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

Sequence Information:

  • Length: 836
  • Mass: 92864
  • Checksum: 1EDD5871867234B5
  • Sequence:
    • MDEADFSEHT TYKQEDLPYD GDLSQIKIGN DYSFTSKKDG LEVLNQIIFI ADDPQEKAMH 
SETCGNTAVT IPLGKITENA ANKKDEKEKQ CTAALHIPAN EGDASKSSIS DILLHHLSKE 
PFLRGQGIDC ETLPEISNAD SFEEEAIIKS IISCYNKNSW PKEQTPELTD QLNPKRDGEN 
SNKPGSATTT EENTSDLEGP VAAGDSSHQE NVNVLTKTKG PGDKQKSYQG QSPQKQQTEK 
ANSGNTFKYG QGQVHYQLPD FSKIAPKVKI PKNKIINKPL AIAKQASFSS KSRDKPTLVQ 
DSLETTPESN CVEKQHQEQK GKITEPSQQI QMEPIVHIHQ ELLTGIESEA SLSKLSPTSQ 
KGTSSSSSYI FQKISQGKQM CQKLKEQTDQ LKTKVQEFSK RIKQDSPYHL QDKKLVLEKL 
QGHLELLEQN FLATKDKHLT LQQQVHKHES TIVGDFDPER KVEGEIFKLE MLLEDVKEKM 
DESKYTSAPS LPVSSPVTLD DLASTFSSLS NEIPKEHPGH PSGPRGSGGS EVTGTPQGGP 
QEAPNEELCE LAPQTYLNGH YGDAAAQNKP DQVAMRLSSN SGEDPNGTPR RQDCAEMTAP 
SPSCAFCRRL LEWKQNVEKK GHGRINCGRF SIVLHEKAPH SDSTPNSDTG HSFCSDSGTE 
MQSNKCQDCG TKIPTSRRAC RKEPTKEFHY RYNTPGQNYS NHSKRGAFVQ PHSLDESKNS 
SPSFLKPKRI CSQRVNSKSF KGEHEPTPGK KKLQAFMTYS SDPATPSPHF YSCRISGSKS 
LCDFDSTEEI KSEILNSALD HALRTATILK ETTDQMIKTI AEDLAKAQRW RNRLKY