CFAP161

Summary

CFAP161 (cilia and flagella associated protein 161, HGNC:26782) is a protein-coding gene on chromosome 15q25.1, encoding Cilia- and flagella-associated protein 161 (Q6P656). 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 cilium assembly and flagellated sperm motility. Located in axonemal microtubule.

Source: NCBI Gene 161502 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_173528

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26782
Approved symbol	CFAP161
Name	cilia and flagella associated protein 161
Location	15q25.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38615
Ensembl gene	ENSG00000156206
Ensembl biotype	protein_coding
Entrez	161502

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000286732, ENST00000560091, ENST00000561216

RefSeq mRNA: 2 — MANE Select: NM_173528 NM_001353365, NM_173528

CCDS: CCDS42068

Canonical transcript exons

ENST00000286732 — 7 exons

Exon	Start	End
ENSE00001253114	81143662	81143820
ENSE00001253121	81138051	81138135
ENSE00002434177	81148338	81149179
ENSE00002530819	81147858	81147931
ENSE00002561855	81134270	81134398
ENSE00003663949	81135270	81135359
ENSE00003788617	81136516	81136748

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 87.95.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2839 / max 144.8573, expressed in 252 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148061	0.6829	108
148062	0.1771	51
148060	0.1313	50
148057	0.1175	38
148059	0.0988	48
148063	0.0553	29
148056	0.0210	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	87.95	gold quality
monocyte	CL:0000576	87.55	gold quality
leukocyte	CL:0000738	86.04	gold quality
bronchial epithelial cell	CL:0002328	85.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.01	gold quality
bronchus	UBERON:0002185	83.86	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	82.96	gold quality
mucosa of paranasal sinus	UBERON:0005030	78.63	gold quality
fallopian tube	UBERON:0003889	69.43	gold quality
epithelium of nasopharynx	UBERON:0001951	69.25	gold quality
nasopharynx	UBERON:0001728	69.24	gold quality
left testis	UBERON:0004533	68.34	gold quality
right testis	UBERON:0004534	67.27	gold quality
oviduct epithelium	UBERON:0004804	67.24	gold quality
testis	UBERON:0000473	67.19	gold quality
right lung	UBERON:0002167	66.32	gold quality
sperm	CL:0000019	66.18	silver quality
granulocyte	CL:0000094	65.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.22	gold quality
upper lobe of left lung	UBERON:0008952	64.41	gold quality
upper lobe of lung	UBERON:0008948	64.03	gold quality
nasal cavity mucosa	UBERON:0001826	63.45	gold quality
adenohypophysis	UBERON:0002196	62.54	gold quality
lung	UBERON:0002048	61.49	gold quality
pituitary gland	UBERON:0000007	61.02	gold quality
calcaneal tendon	UBERON:0003701	60.04	gold quality
secondary oocyte	CL:0000655	59.00	gold quality
lower lobe of lung	UBERON:0008949	58.48	silver quality
hypothalamus	UBERON:0001898	58.07	gold quality
nasal cavity epithelium	UBERON:0005384	58.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting CFAP161, 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-4262	100.00	73.26	3931
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4650-3P	99.01	68.39	1062
HSA-MIR-154-5P	98.92	66.65	733
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-455-5P	98.74	67.31	795
HSA-MIR-12114	98.70	63.45	730

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap161	ENSDARG00000018281
mus_musculus	Cfap161	ENSMUSG00000011154
rattus_norvegicus	Cfap161	ENSRNOG00000012301
drosophila_melanogaster	CG15498	FBGN0038892
drosophila_melanogaster	CG34457	FBGN0085486

Protein

Protein identifiers

Cilia- and flagella-associated protein 161 — Q6P656 (reviewed: Q6P656)

All UniProt accessions (3): Q6P656, H0YM05, H0YNS7

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P656-1	1	yes
Q6P656-2	2

RefSeq proteins (2): NP_001340294, NP_775799* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR055325	CF161	Family

Pfam: PF24569

UniProt features (6 total): splice variant 3, chain 1, region of interest 1, sequence variant 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-Q6P656-F1	87.29	0.63

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 78 (showing top): FREAC2_01, SP3_Q3, AAAYRNCTG_UNKNOWN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GATA6_01, GOBP_CILIUM_MOVEMENT, TCF11_01, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, HP1SITEFACTOR_Q6, GOBP_ORGANELLE_ASSEMBLY, NKX22_01, P300_01, GOBP_CELL_PROJECTION_ORGANIZATION, TGGAAA_NFAT_Q4_01

GO Biological Process (2): flagellated sperm motility (GO:0030317), cilium assembly (GO:0060271)

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

GO Cellular Component (8): axonemal microtubule (GO:0005879), motile cilium (GO:0031514), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), 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
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
binding	1
cytoplasmic microtubule	1
axoneme	1
cilium	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

Protein interactions and networks

STRING

820 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP161	LRRC46	Q96FV0	644
CFAP161	TEKTIP1	A6NCJ1	595
CFAP161	PEBP4	Q96S96	561
CFAP161	RSPH14	Q9UHP6	540
CFAP161	LRRC23	Q53EV4	539
CFAP161	SPATA18	Q8TC71	538
CFAP161	CCDC146	Q8IYE0	518
CFAP161	ODF2	Q5BJF6	508
CFAP161	LRRC34	Q8IZ02	502
CFAP161	DRC2	Q8IXS2	501
CFAP161	CFAP52	Q8N1V2	498
CFAP161	BET1L	Q9NYM9	488
CFAP161	TSNAXIP1	Q2TAA8	487
CFAP161	MORN5	Q5VZ52	477
CFAP161	DRC7	Q8IY82	465

IntAct

25 interactions, top by confidence:

A	B	Type	Score
CFAP161	DPYSL5	psi-mi:“MI:0915”(physical association)	0.640
CFAP161	CINP	psi-mi:“MI:0915”(physical association)	0.560
BCL6	CFAP161	psi-mi:“MI:0915”(physical association)	0.560
EFHC1	CFAP161	psi-mi:“MI:0915”(physical association)	0.560
CFAP161	NBN	psi-mi:“MI:0914”(association)	0.350
CFAP161	BUB1	psi-mi:“MI:0915”(physical association)	0.000
CFAP161	MRE11	psi-mi:“MI:0915”(physical association)	0.000
CFAP161	EML5	psi-mi:“MI:0915”(physical association)	0.000
CCDC150	CFAP161	psi-mi:“MI:0915”(physical association)	0.000
RAD50	CFAP161	psi-mi:“MI:0915”(physical association)	0.000
DPYSL5	CFAP161	psi-mi:“MI:0915”(physical association)	0.000
DCTPP1	CFAP161	psi-mi:“MI:0915”(physical association)	0.000
CFAP161	AFG2A	psi-mi:“MI:0915”(physical association)	0.000
CFAP161	AFG2B	psi-mi:“MI:0915”(physical association)	0.000
BCL6	CFAP161	psi-mi:“MI:0915”(physical association)	0.000
EFHC1	CFAP161	psi-mi:“MI:0915”(physical association)	0.000
CINP	CFAP161	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): C15orf26 (Affinity Capture-MS), C15orf26 (Affinity Capture-MS), EML5 (Affinity Capture-MS), SPATA5L1 (Affinity Capture-MS), MRE11A (Affinity Capture-MS), SPATA5 (Affinity Capture-MS), C15orf26 (Affinity Capture-MS), BUB1 (Affinity Capture-MS), C15orf26 (Affinity Capture-MS), C15orf26 (Two-hybrid), C15orf26 (Two-hybrid), C15orf26 (Two-hybrid), DPYSL5 (Two-hybrid), MRE11A (Affinity Capture-MS), NBN (Affinity Capture-MS)

ESM2 similar proteins: A0A8I6ASZ5, A2ARP1, A6QQP7, A7Z050, B0R034, D2HRF1, D3Z8X7, E1BPN0, F1RA39, F6QZ15, F6RJC2, O02019, O60308, O70311, O75923, O77682, P0C644, P19687, P29993, P33402, P57075, Q08CH3, Q08DJ7, Q14B46, Q1LZ50, Q24498, Q4R7D0, Q568D2, Q5R5N9, Q5RDF1, Q5SW45, Q5SY16, Q5U2Z5, Q5XGX5, Q6GQ76, Q6P656, Q6P8Y0, Q6PFW1, Q80V31, Q86VS3

Diamond homologs: F6RJC2, Q568D2, Q6P656, Q6P8Y0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1003 predictions. Top by Δscore:

Variant	Effect	Δscore
15:81134396:G:GT	donor_gain	1.0000
15:81135355:GACCG:G	donor_gain	1.0000
15:81136553:AC:A	acceptor_gain	1.0000
15:81136554:C:CA	acceptor_gain	1.0000
15:81136554:C:G	acceptor_gain	1.0000
15:81136555:G:A	acceptor_gain	1.0000
15:81143660:A:AG	acceptor_gain	1.0000
15:81143661:G:GG	acceptor_gain	1.0000
15:81143661:GTT:G	acceptor_gain	1.0000
15:81143661:GTTGT:G	acceptor_gain	1.0000
15:81134381:G:GT	donor_gain	0.9900
15:81134395:GGAG:G	donor_gain	0.9900
15:81134396:GAGGT:G	donor_loss	0.9900
15:81134399:G:GA	donor_loss	0.9900
15:81134400:T:G	donor_loss	0.9900
15:81135265:TTTAG:T	acceptor_loss	0.9900
15:81135267:TA:T	acceptor_loss	0.9900
15:81135268:A:AC	acceptor_loss	0.9900
15:81135268:A:AG	acceptor_gain	0.9900
15:81135269:G:GG	acceptor_gain	0.9900
15:81135269:G:GT	acceptor_loss	0.9900
15:81135269:GGA:G	acceptor_gain	0.9900
15:81135325:G:GT	donor_gain	0.9900
15:81135356:ACCGG:A	donor_loss	0.9900
15:81135358:CGG:C	donor_loss	0.9900
15:81135359:GGTAA:G	donor_loss	0.9900
15:81135360:G:GC	donor_loss	0.9900
15:81135360:G:GG	donor_gain	0.9900
15:81135361:T:A	donor_loss	0.9900
15:81136514:A:AG	acceptor_gain	0.9900

AlphaMissense

1989 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:81148417:T:A	W264R	0.987
15:81148417:T:C	W264R	0.987
15:81143674:A:C	S164R	0.986
15:81143676:T:A	S164R	0.986
15:81143676:T:G	S164R	0.986
15:81134372:T:A	W15R	0.983
15:81134372:T:C	W15R	0.983
15:81143761:T:A	W193R	0.983
15:81143761:T:C	W193R	0.983
15:81134374:G:C	W15C	0.982
15:81134374:G:T	W15C	0.982
15:81135285:T:C	F29L	0.978
15:81135287:C:A	F29L	0.978
15:81135287:C:G	F29L	0.978
15:81143763:G:C	W193C	0.976
15:81143763:G:T	W193C	0.976
15:81148419:G:C	W264C	0.975
15:81148419:G:T	W264C	0.975
15:81143816:T:A	V211D	0.973
15:81147877:T:A	I219N	0.972
15:81136696:A:C	S114R	0.971
15:81136698:C:A	S114R	0.971
15:81136698:C:G	S114R	0.971
15:81148413:C:A	N262K	0.969
15:81148413:C:G	N262K	0.969
15:81138097:T:C	F147L	0.967
15:81138099:T:A	F147L	0.967
15:81138099:T:G	F147L	0.967
15:81148418:G:C	W264S	0.967
15:81138098:T:C	F147S	0.965

dbSNP variants (sampled 300 via entrez): RS1000118350 (15:81146406 A>C), RS1000179714 (15:81126775 G>A,C), RS1000190643 (15:81114716 T>A,G), RS1000245362 (15:81120439 C>T), RS1000296521 (15:81133924 C>A,T), RS1000335176 (15:81140217 T>G), RS1000362130 (15:81107933 T>C), RS1000417581 (15:81107580 C>A), RS1000505639 (15:81102856 G>A,C,T), RS1000553882 (15:81107493 G>T), RS1000586440 (15:81107748 T>TA), RS1000593782 (15:81126305 GTT>G), RS1000695990 (15:81109516 C>A), RS1000729100 (15:81114403 G>A), RS1000729623 (15:81120854 A>C,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

5 associations (top):

Study	Trait	p-value
GCST005951_10	Body mass index	2.000000e-08
GCST010242_92	HDL cholesterol levels	3.000000e-08
GCST010396_314	Gut microbiota (bacterial taxa, hurdle binary method)	6.000000e-06
GCST010866_63	Coronary artery disease	4.000000e-10
GCST011365_109	Myocardial infarction	7.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	2
Smoke	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
monobutyl phthalate	decreases methylation, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
monomethylpropion	affects expression	1
mono-benzyl phthalate	decreases methylation, increases abundance	1
abrine	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Arbutin	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Coal	increases abundance, increases expression	1
Cuprizone	affects cotreatment, increases expression	1
Haloperidol	affects cotreatment, increases expression	1
Phthalic Acids	decreases methylation, increases abundance	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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