• Gene id: 7802

Gene Summary

• Gene Symbol: DNALI1   Gene   UCSC   Ensembl
• Aliases: P28, dJ423B22.5, hp28
• Gene name: dynein axonemal light intermediate chain 1
• Alternate names: axonemal dynein light intermediate polypeptide 1, dJ423B22.5 (axonemal dynein light chain (hp28)), dynein, axonemal, light intermediate polypeptide 1, inner dynein arm light chain, axonemal, inner dynein arm, homolog of clamydomonas,
• Gene location: 1p34.3 (37556939: 37566856)     Exons: 6     NC_000001.11
• Gene summary(Entrez): This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are se
• OMIM: 602135

Protein Summary

• Protein general information: O14645  
  • Name: Axonemal dynein light intermediate polypeptide 1 (Inner dynein arm light chain, axonemal) (hp28)
  • Length: 258  
  • Mass: 29662
  • Tissue specificity: Expressed in many tissues. A smaller 0.9 kb and a larger 2.5 kb transcripts were detected at the highest level in the testis, at medium levels in the prostate, heart, liver, lung and pancreas, at low levels in the ovary, skeletal muscl
• Sequence:

  MIPPADSLLKYDTPVLVSRNTEKRSPKARLLKVSPQQPGPSGSAPQPPKTKLPSTPCVPDPTKQAEEILNAILPP
  REWVEDTQLWIQQVSSTPSTRMDVVHLQEQLDLKLQQRQARETGICPVRRELYSQCFDELIREVTINCAERGLLL
  LRVRDEIRMTIAAYQTLYESSVAFGMRKALQAEQGKSDMERKIAELETEKRDLERQVNEQKAKCEATEKRESERR
  QVEEKKHNEEIQFLKRTNQQLKAQLEGIIAPKK

• Structural information:
  • Interpro: IPR019347  
  • STRING: ENSP00000296218
• Other Databases: GeneCards:  DNALI1  Malacards:  DNALI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030175	filopodium	IBA	cellular component
GO:0005930	axoneme	IBA	cellular component
GO:0045504	dynein heavy chain binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0036126	sperm flagellum	IDA	cellular component
GO:0031514	motile cilium	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0030286	dynein complex	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0003774	motor activity	IEA	molecular function
GO:0031514	motile cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0097729	9+2 motile cilium	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R