• Gene id: 27019

Gene Summary

• Gene Symbol: DNAI1   Gene   UCSC   Ensembl
• Aliases: CILD1, DIC1, ICS1, PCD
• Gene name: dynein axonemal intermediate chain 1
• Alternate names: dynein intermediate chain 1, axonemal, dynein, axonemal, intermediate polypeptide 1, immotile cilia syndrome 1, testis tissue sperm-binding protein Li 87P,
• Gene location: 9p13.3 (34458751: 34520988)     Exons: 24     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generati
• OMIM: 604366

SNPs

rs397515563

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34517468G>A
NC_000009.11   g.34517466G>A
NG_008127.1   g.63656G>A|SEQ=[G/A]|GENE=DNAI1

rs397515363

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.34459055dup
NC_000009.11   g.34459053dup
NG_008127.1   g.5243dup
NG_027971.1   g.4516dup|SEQ=[T/TT]|GENE=DNAI1
FAM219A   203259

rs397515358

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.74286974T>G
NC_000017.10   g.72283113T>G
NG_016865.1   g.17728T>G|SEQ=[T/G]|GENE=DNAI2

rs376252276

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34513112G>A
NC_000009.12   g.34513112G>C
NC_000009.12   g.34513112G>T
NC_000009.11   g.34513110G>A
NC_000009.11   g.34513110G>C
NC_000009.11   g.34513110G>T
NG_008127.1   g.59300G>A
NG_008127.1   g.59300G>C
NG_008127.1   g.59300G>T
NM_012144.4   c.1490G

Protein Summary

• Protein general information: Q9UI46  
  • Name: Dynein intermediate chain 1, axonemal (Axonemal dynein intermediate chain 1)
  • Length: 699  
  • Mass: 79,283
• Sequence:

  MIPASAKAPHKQPHKQSISIGRGTRKRDEDSGTEVGEGTDEWAQSKATVRPPDQLELTDAELKEEFTRILTANNP
  HAPQNIVRYSFKEGTYKPIGFVNQLAVHYTQVGNLIPKDSDEGRRQHYRDELVAGSQESVKVISETGNLEEDEEP
  KELETEPGSQTDVPAAGAAEKVTEEELMTPKQPKERKLTNQFNFSERASQTYNNPVRDRECQTEPPPRTNFSATA
  NQWEIYDAYVEELEKQEKTKEKEKAKTPVAKKSGKMAMRKLTSMESQTDDLIKLSQAAKIMERMVNQNTYDDIAQ
  DFKYYDDAADEYRDQVGTLLPLWKFQNDKAKRLSVTALCWNPKYRDLFAVGYGSYDFMKQSRGMLLLYSLKNPSF
  PEYMFSSNSGVMCLDIHVDHPYLVAVGHYDGNVAIYNLKKPHSQPSFCSSAKSGKHSDPVWQVKWQKDDMDQNLN
  FFSVSSDGRIVSWTLVKRKLVHIDVIKLKVEGSTTEVPEGLQLHPVGCGTAFDFHKEIDYMFLVGTEEGKIYKCS
  KSYSSQFLDTYDAHNMSVDTVSWNPYHTKVFMSCSSDWTVKIWDHTIKTPMFIYDLNSAVGDVAWAPYSSTVFAA
  VTTDGKAHIFDLAINKYEAICNQPVAAKKNRLTHVQFNLIHPIIIVGDDRGHIISLKLSPNLRKMPKEKKGQEVQ
  KGPAVEIAKLDKLLNLVREVKIKT

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50082 PS50294
  • STRING: ENSP00000242317
• Other Databases: GeneCards:  DNAI1  Malacards:  DNAI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003341	cilium movement	IMP	biological process
GO:0003774	motor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003774	motor activity	IEA	molecular function
GO:0003774	motor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0030286	dynein complex	IEA	cellular component
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0003341	cilium movement	IMP	biological process
GO:0003774	motor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease

Diseases

Associated diseases	References
Ciliary dyskinesias	GAD: 21143860
Primary ciliary dyskinesia	KEGG: H00564
Non-syndromic asthenozoospermia	MIK: 18492703
Male factor infertility	MIK: 18492703
Asthenozoospermia	MIK: 18492703
Kartagener Syndrome	GAD: 18492703
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Non-syndromic asthenozoospermia	MIK: 18492703
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18492703	Non-syndromic asthenozoospermia	DNAI1 (CGC>TGC;R663C, GCT>TCT;A8S, GTC>ATC;V335I), DNAH5 (GAA>AAA; E1756K, GAG>GAT; E2666D, CGG>CGT; R1458R, GCC>GCT;A1724A, ACG>ACA;T2966T, ACA>ACG;T3491T, GCC>GCT;A4357A), DNAH11 (ATT>GTT;I3040V, CGG>CAG;R3004Q)		290 (90 patients with isolated non-syndromic AZS, 200 controls)	Male infertility	DNAI1
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 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			28 men with azoospermia	Male infertility	Microarray