CFAP141

Summary

CFAP141 (cilia and flagella associated protein 141, HGNC:32305) is a protein-coding gene on chromosome 1q21.3, encoding Cilia- and flagella-associated protein 141 (Q5VU69). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule.

Source: NCBI Gene 388701 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001010979

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32305
Approved symbol	CFAP141
Name	cilia and flagella associated protein 141
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163263
Ensembl biotype	protein_coding
Entrez	388701

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000368525

RefSeq mRNA: 1 — MANE Select: NM_001010979 NM_001010979

CCDS: CCDS30876

Canonical transcript exons

ENST00000368525 — 4 exons

Exon	Start	End
ENSE00001072863	154200459	154200588
ENSE00001173803	154199085	154199528
ENSE00001285425	154205598	154205638
ENSE00001447329	154206275	154206333

Expression profiles

Bgee: expression breadth ubiquitous, 117 present calls, max score 92.56.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0666 / max 21.0222, expressed in 20 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14787	0.0562	19
14789	0.0062	2
14788	0.0042	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	92.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.38	gold quality
left testis	UBERON:0004533	86.72	gold quality
testis	UBERON:0000473	86.06	gold quality
right testis	UBERON:0004534	85.44	gold quality
fallopian tube	UBERON:0003889	76.75	gold quality
right lung	UBERON:0002167	61.73	gold quality
endometrium	UBERON:0001295	60.20	gold quality
left uterine tube	UBERON:0001303	59.70	gold quality
granulocyte	CL:0000094	59.01	gold quality
endocervix	UBERON:0000458	53.86	gold quality
lung	UBERON:0002048	53.25	gold quality
gastrocnemius	UBERON:0001388	51.50	gold quality
upper lobe of left lung	UBERON:0008952	50.80	gold quality
muscle of leg	UBERON:0001383	49.89	gold quality
mucosa of stomach	UBERON:0001199	49.00	gold quality
bone marrow	UBERON:0002371	47.49	gold quality
blood	UBERON:0000178	47.27	gold quality
skeletal muscle tissue	UBERON:0001134	46.67	silver quality
monocyte	CL:0000576	46.47	gold quality
sural nerve	UBERON:0015488	46.14	gold quality
leukocyte	CL:0000738	46.11	gold quality
islet of Langerhans	UBERON:0000006	45.97	gold quality
hypothalamus	UBERON:0001898	45.32	gold quality
right coronary artery	UBERON:0001625	45.31	gold quality
muscle tissue	UBERON:0002385	44.23	silver quality
subcutaneous adipose tissue	UBERON:0002190	43.88	gold quality
apex of heart	UBERON:0002098	43.35	silver quality
uterine cervix	UBERON:0000002	43.31	gold quality
descending thoracic aorta	UBERON:0002345	43.30	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting CFAP141, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-6876-3P	98.97	65.69	765
HSA-MIR-626	98.89	66.21	762
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-605-5P	98.79	68.24	1161
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362
HSA-MIR-541-5P	98.24	67.77	1181
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-3159	97.94	66.79	1098
HSA-MIR-12127	97.93	66.67	793
HSA-MIR-6807-5P	97.51	64.25	1046
HSA-MIR-6069	97.45	65.88	357
HSA-MIR-4313	97.18	63.15	420

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cfap141	ENSMUSG00000118506
rattus_norvegicus	Cfap141	ENSRNOG00000037406

Protein

Protein identifiers

Cilia- and flagella-associated protein 141 — Q5VU69 (reviewed: Q5VU69)

All UniProt accessions (1): Q5VU69

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme.

Tissue specificity. Expressed in airway epithelial cells.

RefSeq proteins (1): NP_001010979* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029375	CFAP141	Family

Pfam: PF15104

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7UNG	ELECTRON MICROSCOPY	3.6
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VU69-F1	93.70	0.80

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 60 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOCC_CYTOPLASMIC_REGION, chr1q21, GOCC_MOTILE_CILIUM, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM, GOCC_AXONEMAL_MICROTUBULE, GOCC_9PLUS2_MOTILE_CILIUM, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOCC_SUPRAMOLECULAR_POLYMER, FOXJ2_TARGET_GENES

GO Biological Process (1): flagellated sperm motility (GO:0030317)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): axonemal microtubule (GO:0005879), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
binding	1
cytoplasmic microtubule	1
axoneme	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

498 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP141	C10orf62	Q5T681	651
CFAP141	LRRC43	Q8N309	582
CFAP141	ANKRD60	Q9BZ19	580
CFAP141	OR5M3	Q8NGP4	576
CFAP141	SPMIP10	Q6ZNM6	574
CFAP141	ZNF285	Q96NJ3	544
CFAP141	C14orf93	Q9H972	543
CFAP141	XAGE5	Q8WWM1	512
CFAP141	ARMCX6	Q7L4S7	507
CFAP141	CFAP47	Q6ZTR5	506
CFAP141	DYDC1	Q8WWB3	506
CFAP141	FAM181A	Q8N9Y4	480
CFAP141	DRG1	Q9Y295	435
CFAP141	TRAPPC6B	Q86SZ2	418
CFAP141	LTAP1	Q9BWL3	406

IntAct

16 interactions, top by confidence:

A	B	Type	Score
NME7	CFAP141	psi-mi:“MI:0915”(physical association)	0.830
CFAP141	NME7	psi-mi:“MI:0915”(physical association)	0.830
PTGES2	CFAP141	psi-mi:“MI:0915”(physical association)	0.560
CFAP141	PTGES2	psi-mi:“MI:0915”(physical association)	0.560
CFAP141	WDR46	psi-mi:“MI:0914”(association)	0.350
NME7	CFAP141	psi-mi:“MI:0915”(physical association)	0.000
CFAP141	NME7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (57): C1orf189 (Two-hybrid), C1orf189 (Two-hybrid), C1orf189 (Two-hybrid), RABL6 (Affinity Capture-MS), RRP36 (Affinity Capture-MS), CDK11B (Affinity Capture-MS), NFX1 (Affinity Capture-MS), OTUD4 (Affinity Capture-MS), MTDH (Affinity Capture-MS), RBM15B (Affinity Capture-MS), KIF20B (Affinity Capture-MS), DHX16 (Affinity Capture-MS), SCAF4 (Affinity Capture-MS), DIDO1 (Affinity Capture-MS), SLTM (Affinity Capture-MS)

ESM2 similar proteins: A0RB09, A4IL64, A7GM70, A7Z3C9, A7Z487, A8FBY4, A8FC05, A9VJ45, B1HNY1, B1HPT4, B7GLZ2, B7HGT7, B7HZV3, B7ILC1, B7JDY2, B9ITX7, C0M990, C0MG79, C1EL88, C3LBU2, C3P3M8, C5D781, C5D7A2, E8VHU4, O31597, O31610, O67064, P39791, P45707, P53559, P54177, P94589, Q11109, Q45497, Q5BU39, Q5L1T7, Q5VU69, Q5WEY9, Q63EI7, Q65LC6

Diamond homologs: Q32L75, Q5VU69, Q9D9D9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

473 predictions. Top by Δscore:

Variant	Effect	Δscore
1:154200601:C:CT	acceptor_gain	0.9900
1:154200606:G:C	acceptor_gain	0.9900
1:154200230:TTGGG:T	donor_gain	0.9800
1:154200283:A:AC	donor_gain	0.9800
1:154200452:AACT:A	donor_loss	0.9800
1:154200453:ACT:A	donor_loss	0.9800
1:154200454:CTC:C	donor_loss	0.9800
1:154200455:TCA:T	donor_loss	0.9800
1:154200456:CA:C	donor_loss	0.9800
1:154200457:ACC:A	donor_loss	0.9800
1:154200595:CAGG:C	acceptor_gain	0.9800
1:154200598:G:C	acceptor_gain	0.9800
1:154200598:G:GC	acceptor_gain	0.9800
1:154200602:A:T	acceptor_gain	0.9800
1:154205637:CT:C	acceptor_gain	0.9800
1:154199528:CCT:C	acceptor_loss	0.9700
1:154199530:T:G	acceptor_loss	0.9700
1:154200450:AGAAC:A	donor_loss	0.9700
1:154200451:GAACT:G	donor_loss	0.9700
1:154200586:CACCT:C	acceptor_loss	0.9700
1:154200587:ACC:A	acceptor_loss	0.9700
1:154200588:CCT:C	acceptor_loss	0.9700
1:154200589:C:CA	acceptor_loss	0.9700
1:154200590:T:A	acceptor_loss	0.9700
1:154200606:G:GC	acceptor_gain	0.9700
1:154205402:A:AC	donor_gain	0.9700
1:154199532:G:C	acceptor_gain	0.9600
1:154199524:CGGAC:C	acceptor_gain	0.9500
1:154199532:G:GC	acceptor_gain	0.9500
1:154200284:A:C	donor_gain	0.9500

AlphaMissense

671 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:154199445:A:C	F96L	0.914
1:154199445:A:T	F96L	0.914
1:154199447:A:G	F96L	0.914
1:154199524:C:G	R70P	0.887
1:154199525:G:T	R70S	0.862
1:154199516:C:G	A73P	0.858
1:154199519:C:G	A72P	0.848
1:154199467:A:G	L89P	0.823
1:154199455:C:A	G93V	0.820
1:154200466:A:G	L66P	0.810
1:154199503:A:G	L77P	0.786
1:154199451:T:A	K94N	0.780
1:154199451:T:G	K94N	0.780
1:154200587:A:G	W26R	0.777
1:154200587:A:T	W26R	0.777
1:154199456:C:G	G93R	0.769
1:154199456:C:A	G93C	0.766
1:154199512:A:G	L74P	0.764
1:154200479:C:G	A62P	0.729
1:154200585:C:A	W26C	0.725
1:154200585:C:G	W26C	0.725
1:154199524:C:A	R70L	0.696
1:154199525:G:C	R70G	0.689
1:154199455:C:T	G93D	0.683
1:154200490:T:A	E58V	0.660
1:154199491:T:A	E81V	0.657
1:154199455:C:G	G93A	0.646
1:154199480:A:C	Y85D	0.640
1:154199433:T:A	R100S	0.613
1:154199433:T:G	R100S	0.613

dbSNP variants (sampled 300 via entrez): RS1000280173 (1:154202397 T>C), RS1000330786 (1:154202201 G>T), RS1000876453 (1:154207026 A>G), RS1001069079 (1:154207362 G>A), RS1001417321 (1:154207659 G>C), RS1002165358 (1:154201224 G>A), RS1002193171 (1:154199822 C>A), RS1002217642 (1:154201014 C>T), RS1002833080 (1:154204634 A>G), RS1003303494 (1:154203380 C>T), RS1003422543 (1:154204782 G>A,C), RS1004280471 (1:154205173 C>T), RS1004607016 (1:154202013 T>C), RS1004676280 (1:154203608 C>T), RS1004738755 (1:154204986 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST007327_157	Smoking status (ever vs never smokers)	3.000000e-11
GCST010137_3	Cooked vegetable consumption	3.000000e-09
GCST010142_92	Fish- and plant-related diet	6.000000e-14
GCST010696_22	Cortical thickness (min-P)	4.000000e-10
GCST010697_50	Cortical surface area (min-P)	1.000000e-12
GCST010698_81	Subcortical volume (min-P)	1.000000e-23
GCST010699_7	Brain morphology (min-P)	1.000000e-10
GCST010700_11	Cortical thickness (MOSTest)	4.000000e-13
GCST010701_73	Cortical surface area (MOSTest)	4.000000e-09
GCST010702_45	Subcortical volume (MOSTest)	4.000000e-10
GCST010703_276	Brain morphology (MOSTest)	2.000000e-15

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
licochalcone B	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Catechin	affects cotreatment, decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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