Details for: DNALI1

Gene ID: 7802

Symbol: DNALI1

Ensembl ID: ENSG00000163879

Description: dynein axonemal light intermediate chain 1

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 111.4145
    Cell Significance Index: -17.3300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 36.9819
    Cell Significance Index: -17.4600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 26.0796
    Cell Significance Index: -17.5000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.3706
    Cell Significance Index: -14.6800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.3892
    Cell Significance Index: -17.3200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.8424
    Cell Significance Index: 14.7100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.7971
    Cell Significance Index: 209.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.6953
    Cell Significance Index: 925.8700
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.1003
    Cell Significance Index: 11.6900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.0972
    Cell Significance Index: 69.1500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.8880
    Cell Significance Index: 20.5200
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.8661
    Cell Significance Index: 5.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.8330
    Cell Significance Index: 62.0800
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.7827
    Cell Significance Index: 10.8600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7269
    Cell Significance Index: 656.3100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4996
    Cell Significance Index: 81.2500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4787
    Cell Significance Index: 52.0700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4482
    Cell Significance Index: 12.2000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2978
    Cell Significance Index: 10.3500
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.2817
    Cell Significance Index: 2.7900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2752
    Cell Significance Index: 52.3700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.2627
    Cell Significance Index: 164.0800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2479
    Cell Significance Index: 24.5200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2463
    Cell Significance Index: 17.0400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2387
    Cell Significance Index: 32.7800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1666
    Cell Significance Index: 7.7700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1616
    Cell Significance Index: 4.2500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1571
    Cell Significance Index: 20.1400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1438
    Cell Significance Index: 6.5200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1249
    Cell Significance Index: 2.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1226
    Cell Significance Index: 24.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1097
    Cell Significance Index: 3.1600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0994
    Cell Significance Index: 16.9700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0598
    Cell Significance Index: 21.4400
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.0414
    Cell Significance Index: 0.3800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0375
    Cell Significance Index: 7.4500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0363
    Cell Significance Index: 25.1400
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.0072
    Cell Significance Index: 0.0700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0061
    Cell Significance Index: 0.1000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0032
    Cell Significance Index: 0.1700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0021
    Cell Significance Index: 1.5600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0014
    Cell Significance Index: -1.0900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0024
    Cell Significance Index: -0.4400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0030
    Cell Significance Index: -5.6700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0062
    Cell Significance Index: -4.5400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0076
    Cell Significance Index: -14.0900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0092
    Cell Significance Index: -14.0900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0101
    Cell Significance Index: -0.1200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0136
    Cell Significance Index: -1.6700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0137
    Cell Significance Index: -18.6200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0159
    Cell Significance Index: -3.3400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0174
    Cell Significance Index: -11.0500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0182
    Cell Significance Index: -10.2900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0187
    Cell Significance Index: -8.2700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0261
    Cell Significance Index: -7.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0355
    Cell Significance Index: -4.5900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0377
    Cell Significance Index: -17.1300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0456
    Cell Significance Index: -5.2100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0535
    Cell Significance Index: -5.4700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0540
    Cell Significance Index: -1.1500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0604
    Cell Significance Index: -6.9200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0659
    Cell Significance Index: -1.7700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0752
    Cell Significance Index: -10.9300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0859
    Cell Significance Index: -2.4000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0945
    Cell Significance Index: -1.9600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1290
    Cell Significance Index: -7.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1364
    Cell Significance Index: -3.4100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1484
    Cell Significance Index: -3.6000
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1495
    Cell Significance Index: -2.2700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1517
    Cell Significance Index: -8.5100
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.1552
    Cell Significance Index: -1.6800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1559
    Cell Significance Index: -18.3900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1611
    Cell Significance Index: -9.8800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1628
    Cell Significance Index: -1.7700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1640
    Cell Significance Index: -17.0800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1729
    Cell Significance Index: -3.6200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1804
    Cell Significance Index: -14.2900
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.2058
    Cell Significance Index: -2.6500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2156
    Cell Significance Index: -16.5500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2271
    Cell Significance Index: -2.5800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2280
    Cell Significance Index: -2.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2301
    Cell Significance Index: -15.4700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2401
    Cell Significance Index: -11.2900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2417
    Cell Significance Index: -12.6900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2653
    Cell Significance Index: -6.8200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2726
    Cell Significance Index: -8.7300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2753
    Cell Significance Index: -13.9100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2760
    Cell Significance Index: -17.8100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2836
    Cell Significance Index: -14.7700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3099
    Cell Significance Index: -2.1000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3107
    Cell Significance Index: -9.1500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3234
    Cell Significance Index: -13.2500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3413
    Cell Significance Index: -9.1300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.3653
    Cell Significance Index: -6.0200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.3776
    Cell Significance Index: -5.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3859
    Cell Significance Index: -17.0700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4085
    Cell Significance Index: -11.7100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4135
    Cell Significance Index: -15.1800
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.4375
    Cell Significance Index: -3.9600
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.4398
    Cell Significance Index: -2.6100

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:** DNALI1 is a light intermediate chain of the dynein axonemal complex, which is a key component of motile cilia. This complex is responsible for the movement of cilia, and its dysfunction has been implicated in various diseases, including primary ciliary dyskinesia. DNALI1 is a member of the dynein heavy chain binding protein family and shares sequence homology with other dynein light chains. The gene's expression is restricted to cells involved in cilia-mediated functions, highlighting its specific role in these cellular processes. **Pathways and Functions:** DNALI1 is involved in several cellular pathways, including: 1. **Motile Cilium Pathway:** DNALI1 is a critical component of the dynein complex, which regulates the movement of cilia. The gene's expression and function are essential for the proper assembly and maintenance of motile cilia. 2. **Axoneme Pathway:** DNALI1 is also involved in the structure and function of the axoneme, which is the core component of cilia. The gene's light intermediate chain is essential for the proper assembly and function of the axoneme. 3. **Protein Binding Pathway:** DNALI1 interacts with other proteins involved in the dynein complex, including dynein heavy chains and other light chains. These interactions are essential for the proper function of the dynein complex. **Clinical Significance:** The dysfunction of DNALI1 has been implicated in various diseases, including: 1. **Primary Ciliary Dyskinesia (PCD):** PCD is a genetic disorder characterized by the dysfunction of motile cilia, leading to respiratory and reproductive problems. DNALI1 mutations have been identified as a cause of PCD, highlighting the gene's critical role in cilia-mediated functions. 2. **Respiratory Diseases:** The dysfunction of DNALI1 has also been implicated in respiratory diseases, including chronic obstructive pulmonary disease (COPD) and cystic fibrosis. 3. **Reproductive Diseases:** DNALI1 dysfunction has also been implicated in reproductive diseases, including infertility and polycystic ovary syndrome (PCOS). In conclusion, the DNALI1 gene plays a critical role in the structure and function of motile cilia, and its dysfunction has been implicated in various diseases. Further research is needed to fully understand the gene's role in human disease and to develop therapeutic strategies to treat these conditions.

Genular Protein ID: 3852104144

Symbol: IDLC_HUMAN

Name: Inner dynein arm light chain, axonemal

UniProtKB Accession Codes:

O14645 A8K387 B4DHN6 Q05BL9 Q5HYE2 Q5TGH0 Q7L0I5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 7 EMDB 1 Ensembl 1 ExpressionAtlas 1 GO 11 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 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 2 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9284741

Title: Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene.

PubMed ID: 9284741

DOI: 10.1210/jcem.82.9.4242

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

PubMed ID: 27120127

Title: Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex subunit, cause primary ciliary dyskinesia with axonemal disorganization.

PubMed ID: 27120127

DOI: 10.1002/humu.23005

PubMed ID: 33139725

Title: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

PubMed ID: 33139725

DOI: 10.1038/s41467-020-19113-0

PubMed ID: 16959974

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

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 31178125

Title: Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

PubMed ID: 31178125

DOI: 10.1016/j.ajhg.2019.04.015

PubMed ID: 36792588

Title: DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath.

PubMed ID: 36792588

DOI: 10.1038/s41419-023-05653-y

Sequence Information:

  • Length: 258
  • Mass: 29662
  • Checksum: 5E95F15FE4476BF7
  • Sequence:
    • MIPPADSLLK YDTPVLVSRN TEKRSPKARL LKVSPQQPGP SGSAPQPPKT KLPSTPCVPD 
PTKQAEEILN AILPPREWVE DTQLWIQQVS STPSTRMDVV HLQEQLDLKL QQRQARETGI 
CPVRRELYSQ CFDELIREVT INCAERGLLL LRVRDEIRMT IAAYQTLYES SVAFGMRKAL 
QAEQGKSDME RKIAELETEK RDLERQVNEQ KAKCEATEKR ESERRQVEEK KHNEEIQFLK 
RTNQQLKAQL EGIIAPKK

Genular Protein ID: 1275059685

Symbol: A0A499FIY3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A499FIY3

Database IDs:

ARBA 5 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 1 GeneTree 1 HGNC 1 InterPro 1 KEGG 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMR 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16710414

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

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

  • Length: 280
  • Mass: 31848
  • Checksum: 6F9954E09B706BE4
  • Sequence:
    • MVTANKAHTG QGSCWVATLA SAMIPPADSL LKYDTPVLVS RNTEKRSPKA RLLKVSPQQP 
GPSGSAPQPP KTKLPSTPCV PDPTKQAEEI LNAILPPREW VEDTQLWIQQ VSSTPSTRMD 
VVHLQEQLDL KLQQRQARET GICPVRRELY SQCFDELIRE VTINCAERGL LLLRVRDEIR 
MTIAAYQTLY ESSVAFGMRK ALQAEQGKSD MERKIAELET EKRDLERQVN EQKAKCEATE 
KRESERRQVE EKKHNEEIQF LKRTNQQLKA QLEGIIAPKK

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.