DNAI7

Summary

DNAI7 (dynein axonemal intermediate chain 7, HGNC:29599) is a protein-coding gene on chromosome 12p12.1, encoding Dynein axonemal intermediate chain 7 (Q6TDU7). Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function.

Predicted to enable beta-tubulin binding activity and microtubule binding activity. Predicted to be located in cilium and microtubule cytoskeleton. Predicted to be part of axonemal dynein complex. Predicted to be active in axoneme and cytoplasmic microtubule.

Source: NCBI Gene 55259 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 122 total
• MANE Select transcript: NM_018272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29599
Approved symbol	DNAI7
Name	dynein axonemal intermediate chain 7
Location	12p12.1
Locus type	gene with protein product
Status	Approved
Aliases	LAS1, FLJ10921, PPP1R54
Ensembl gene	ENSG00000118307
Ensembl biotype	protein_coding
OMIM	616906
Entrez	55259

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 14 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000320267, ENST00000354189, ENST00000395987, ENST00000395990, ENST00000545133, ENST00000554347, ENST00000554533, ENST00000555240, ENST00000555554, ENST00000556006, ENST00000556467, ENST00000556547, ENST00000557684, ENST00000674567, ENST00000676236, ENST00000878192, ENST00000878193, ENST00000878194, ENST00000957361, ENST00000957362

RefSeq mRNA: 15 — MANE Select: NM_018272 NM_001082972, NM_001082973, NM_001204101, NM_001204102, NM_001319977, NM_001319978, NM_001352061, NM_001352062, NM_001352063, NM_001352064, NM_001352065, NM_001352066, NM_001352067, NM_001352068, NM_018272

CCDS: CCDS31759, CCDS41762, CCDS41763, CCDS55810, CCDS55811

Canonical transcript exons

ENST00000395987 — 16 exons

Exon	Start	End
ENSE00003475464	25114656	25114870
ENSE00003480105	25154319	25154456
ENSE00003493358	25119145	25119301
ENSE00003496418	25110127	25110240
ENSE00003511341	25123211	25123286
ENSE00003517622	25161113	25161197
ENSE00003522120	25158472	25158563
ENSE00003534223	25147001	25147104
ENSE00003551521	25195076	25195160
ENSE00003615247	25149628	25149774
ENSE00003643356	25121753	25121913
ENSE00003646955	25155311	25155412
ENSE00003652357	25111772	25111939
ENSE00003660179	25144365	25144677
ENSE00003687266	25190614	25190631
ENSE00003847953	25108289	25108823

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 96.37.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5952 / max 143.5361, expressed in 399 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130174	1.5952	399

Top tissues by expression

280 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.37	gold quality
bronchial epithelial cell	CL:0002328	96.21	gold quality
epithelium of bronchus	UBERON:0002031	94.99	gold quality
bronchus	UBERON:0002185	93.65	gold quality
male germ cell	CL:0000015	93.55	gold quality
right uterine tube	UBERON:0001302	90.51	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.69	gold quality
buccal mucosa cell	CL:0002336	86.58	gold quality
mucosa of paranasal sinus	UBERON:0005030	86.47	gold quality
left testis	UBERON:0004533	84.15	gold quality
right testis	UBERON:0004534	83.16	gold quality
testis	UBERON:0000473	83.12	gold quality
choroid plexus epithelium	UBERON:0003911	82.93	gold quality
caput epididymis	UBERON:0004358	80.46	gold quality
epithelium of nasopharynx	UBERON:0001951	80.05	gold quality
nasal cavity epithelium	UBERON:0005384	77.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.23	gold quality
ventricular zone	UBERON:0003053	74.91	gold quality
secondary oocyte	CL:0000655	74.71	gold quality
adenohypophysis	UBERON:0002196	74.24	gold quality
nasal cavity mucosa	UBERON:0001826	73.12	gold quality
pituitary gland	UBERON:0000007	72.78	gold quality
calcaneal tendon	UBERON:0003701	71.54	gold quality
fallopian tube	UBERON:0003889	71.06	gold quality
thyroid gland	UBERON:0002046	69.60	gold quality
left lobe of thyroid gland	UBERON:0001120	69.55	gold quality
right lobe of thyroid gland	UBERON:0001119	69.23	gold quality
islet of Langerhans	UBERON:0000006	68.29	gold quality
corpus epididymis	UBERON:0004359	68.22	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting DNAI7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-1-5P	98.70	68.66	1017
HSA-MIR-633	98.35	69.45	1167
HSA-MIR-4289	98.26	66.90	810
HSA-MIR-15B-3P	97.85	66.68	974
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-6869-5P	97.17	67.06	634
HSA-MIR-5586-3P	95.51	67.00	805

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnai7	ENSDARG00000016815
mus_musculus	Dnai7	ENSMUSG00000043541
rattus_norvegicus	Dnai7	ENSRNOG00000027630
drosophila_melanogaster	CG15373	FBGN0030889
drosophila_melanogaster	CG12983	FBGN0037040
drosophila_melanogaster	CG33286	FBGN0053286
drosophila_melanogaster	CG33287	FBGN0053287
caenorhabditis_elegans		WBGENE00019571

Protein

Protein identifiers

Dynein axonemal intermediate chain 7 — Q6TDU7 (reviewed: Q6TDU7)

Alternative names: Cancer susceptibility candidate gene 1 protein, Cilia and flagella associated protein 94, Lung adenoma susceptibility 1-like protein, Protein phosphatase 1 regulatory subunit 54

All UniProt accessions (8): Q6TDU7, A0A6Q8PG26, B4DY27, F8W8F9, G3V2J3, G3V333, G3V3G6, H0YJM7

UniProt curated annotations — full annotation on UniProt →

Function. Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function. May also act as a cell cycle regulator.

Subunit / interactions. Part of the multisubunit axonemal dynein complex formed at least of two heavy chains and a number of intermediate and light chains. Interacts with tubulin. Associates with microtubule.

Subcellular location. Cell projection. Cilium. Cytoplasm.

Post-translational modifications. Ubiquitinated. Ubiquitination leads to its degradation through the 26S proteasome. Ubiquitin-proteasome-mediated DNAI7 degradation occurs in mitosis.

Similarity. Belongs to the DNAI7 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6TDU7-1	1	yes
Q6TDU7-2	2
Q6TDU7-3	3
Q6TDU7-4	4

RefSeq proteins (15): NP_001076441, NP_001076442, NP_001191030, NP_001191031, NP_001306906, NP_001306907, NP_001338990, NP_001338991, NP_001338992, NP_001338993, NP_001338994, NP_001338995, NP_001338996, NP_001338997, NP_060742* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022110	CASC1_C	Domain
IPR023247	IC97/Dnai7-like	Family
IPR031826	IC97/Casc1_N	Domain

Pfam: PF12366, PF15927

UniProt features (8 total): splice variant 5, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6TDU7-F1	85.01	0.62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 81 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, KORKOLA_CHORIOCARCINOMA_DN, TGACCTY_ERR1_Q2, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, SMID_BREAST_CANCER_LUMINAL_B_UP, KORKOLA_EMBRYONAL_CARCINOMA_DN, GOCC_CYTOPLASMIC_REGION, GOCC_DYNEIN_COMPLEX, GOCC_CILIUM, GOCC_AXONEMAL_DYNEIN_COMPLEX, chr12p12, GOMF_CYTOSKELETAL_PROTEIN_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_BETA_TUBULIN_BINDING, IL21_UP.V1_UP

GO Biological Process (0):

GO Molecular Function (3): microtubule binding (GO:0008017), beta-tubulin binding (GO:0048487), protein binding (GO:0005515)

GO Cellular Component (5): axonemal dynein complex (GO:0005858), cilium (GO:0005929), axoneme (GO:0005930), cytoplasm (GO:0005737), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
tubulin binding	2
binding	1
axoneme	1
dynein complex	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAI7	IRAG2	Q12912	542
DNAI7	ETFRF1	Q6IPR1	507
DNAI7	LMNTD1	Q8N9Z9	477
DNAI7	DNAI3	Q8IWG1	447
DNAI7	PPP1CA	P08129	435
DNAI7	ERGIC2	Q96RQ1	413
DNAI7	RASSF8	Q8NHQ8	397
DNAI7	GOLM2	Q6P4E1	370
DNAI7	CCT8L2	Q96SF2	368
DNAI7	RIMOC1	A6NDU8	365
DNAI7	FGFR1OP2	Q9NVK5	362
DNAI7	TSNAXIP1	Q2TAA8	356
DNAI7	ABCC9	O60706	353
DNAI7	RSPH14	Q9UHP6	336
DNAI7	RSPH10B	P0C881	329

IntAct

10 interactions, top by confidence:

A	B	Type	Score
DNAI7	NME7	psi-mi:“MI:0915”(physical association)	0.560
DNAI7	ABI2	psi-mi:“MI:0915”(physical association)	0.560
DNAI7	PPP1CA	psi-mi:“MI:0407”(direct interaction)	0.440
DNAI7	HADHA	psi-mi:“MI:0915”(physical association)	0.400
NME7	DNAI7	psi-mi:“MI:0915”(physical association)	0.000
ABI2	DNAI7	psi-mi:“MI:0915”(physical association)	0.000
ITSN1	DNAI7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): RUNDC1 (Affinity Capture-MS), LRIF1 (Affinity Capture-MS), MYO9A (Affinity Capture-MS), ABI2 (Two-hybrid), NME7 (Two-hybrid), CASC1 (Proximity Label-MS), CASC1 (Two-hybrid), CASC1 (Affinity Capture-MS), CASC1 (Two-hybrid), CASC1 (Affinity Capture-Western)

ESM2 similar proteins: A6NFN9, B9EKE5, D3YYM4, D5K8A9, M0RAU5, O15259, P15943, P97432, Q08CH6, Q0IHI3, Q12789, Q14596, Q3MJ13, Q3V0L5, Q4R5A4, Q4R683, Q4R796, Q501R9, Q5F479, Q5M9F0, Q5RAX4, Q5RC14, Q5RC94, Q5RFQ4, Q5W0A0, Q5XX13, Q63505, Q6TDU7, Q76CY8, Q7L0X2, Q7TNH6, Q7Z7H3, Q86X53, Q8BHR8, Q8BMD5, Q8C0W1, Q8C761, Q8K284, Q8N309, Q8NDB2

Diamond homologs: A6H8T2, Q29RU8, Q4R796, Q6TDU7, Q6TDU8, Q8T880

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

122 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	100
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3191 predictions. Top by Δscore:

Variant	Effect	Δscore
12:25108762:C:CC	acceptor_gain	1.0000
12:25110121:TCATA:T	donor_loss	1.0000
12:25110122:CATA:C	donor_loss	1.0000
12:25110123:ATAC:A	donor_loss	1.0000
12:25110124:TA:T	donor_loss	1.0000
12:25110125:A:AT	donor_loss	1.0000
12:25110126:CCTT:C	donor_loss	1.0000
12:25121751:A:AC	donor_gain	1.0000
12:25121752:C:CC	donor_gain	1.0000
12:25121752:CTT:C	donor_gain	1.0000
12:25121754:T:TA	donor_gain	1.0000
12:25121755:C:A	donor_gain	1.0000
12:25121769:C:A	donor_gain	1.0000
12:25121784:CA:C	donor_gain	1.0000
12:25121822:TC:T	donor_gain	1.0000
12:25121823:CC:C	donor_gain	1.0000
12:25121909:CTGTG:C	acceptor_gain	1.0000
12:25147101:CTTG:C	acceptor_gain	1.0000
12:25147103:TG:T	acceptor_gain	1.0000
12:25147104:GCTG:G	acceptor_loss	1.0000
12:25147105:C:CC	acceptor_gain	1.0000
12:25147106:T:C	acceptor_loss	1.0000
12:25149623:CTTA:C	donor_gain	1.0000
12:25149624:TTA:T	donor_loss	1.0000
12:25149625:TACTT:T	donor_loss	1.0000
12:25149626:A:AC	donor_gain	1.0000
12:25149626:ACT:A	donor_loss	1.0000
12:25149627:C:A	donor_loss	1.0000
12:25149627:C:CT	donor_gain	1.0000
12:25149627:CT:C	donor_gain	1.0000

AlphaMissense

4803 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:25114736:A:G	W505R	0.992
12:25114736:A:T	W505R	0.992
12:25110169:G:C	S611R	0.991
12:25110169:G:T	S611R	0.991
12:25110171:T:G	S611R	0.991
12:25147026:A:G	W216R	0.990
12:25147026:A:T	W216R	0.990
12:25144603:G:T	A249D	0.989
12:25110193:A:C	S603R	0.986
12:25110193:A:T	S603R	0.986
12:25110195:T:G	S603R	0.986
12:25144604:C:G	A249P	0.986
12:25114862:A:G	W463R	0.985
12:25114862:A:T	W463R	0.985
12:25149632:A:G	L188P	0.985
12:25147023:C:G	A217P	0.982
12:25110165:A:G	W613R	0.978
12:25110165:A:T	W613R	0.978
12:25110160:G:C	N614K	0.977
12:25110160:G:T	N614K	0.977
12:25149680:A:G	L172P	0.977
12:25114729:A:G	L507P	0.976
12:25119157:A:G	W456R	0.976
12:25119157:A:T	W456R	0.976
12:25147018:G:C	N218K	0.976
12:25147018:G:T	N218K	0.976
12:25144597:C:G	R251P	0.975
12:25121767:A:G	W403R	0.974
12:25121767:A:T	W403R	0.974
12:25110203:G:T	A600D	0.973

dbSNP variants (sampled 300 via entrez): RS1000031379 (12:25185579 T>C), RS1000042162 (12:25166362 C>G), RS1000079304 (12:25169316 C>A,G), RS1000112525 (12:25154611 A>C), RS1000123106 (12:25179032 C>A), RS1000128757 (12:25137484 CA>C,CAA), RS1000159275 (12:25109484 T>C), RS1000168605 (12:25192292 A>T), RS1000184659 (12:25117527 A>G), RS1000200957 (12:25139022 G>A), RS1000210522 (12:25150756 T>C), RS1000229405 (12:25144420 A>T), RS1000262133 (12:25164224 C>T), RS1000274291 (12:25108864 T>A,G), RS1000335028 (12:25172023 C>A,T)

Disease associations

OMIM: gene MIM:616906 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects methylation	2
Aflatoxin B1	decreases methylation	2
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
clothianidin	decreases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Vorinostat	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1
Diethylstilbestrol	decreases expression	1
Lipopolysaccharides	affects cotreatment, affects response to substance, increases expression	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.