CFAP107

Summary

CFAP107 (cilia and flagella associated protein 107, HGNC:28567) is a protein-coding gene on chromosome 1p36.21, encoding Cilia- and flagella-associated protein 107 (Q8N1D5). 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 93190 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 8 total — 1 pathogenic
• MANE Select transcript: NM_152290

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28567
Approved symbol	CFAP107
Name	cilia and flagella associated protein 107
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Aliases	MGC35194
Ensembl gene	ENSG00000157330
Ensembl biotype	protein_coding
Entrez	93190

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000376210, ENST00000474179, ENST00000614859

RefSeq mRNA: 2 — MANE Select: NM_152290 NM_001330361, NM_152290

CCDS: CCDS147, CCDS81264

Canonical transcript exons

ENST00000614859 — 4 exons

Exon	Start	End
ENSE00001065752	12759310	12759487
ENSE00003730702	12746200	12746541
ENSE00003730982	12755700	12755813
ENSE00003754275	12760770	12763699

Expression profiles

Bgee: expression breadth broad, 96 present calls, max score 95.93.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6042 / max 249.4500, expressed in 101 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
749	0.5492	90
750	0.0369	19
748	0.0181	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.93	gold quality
bronchial epithelial cell	CL:0002328	94.87	gold quality
bronchus	UBERON:0002185	93.18	gold quality
left testis	UBERON:0004533	91.22	gold quality
right testis	UBERON:0004534	90.47	gold quality
sperm	CL:0000019	87.97	gold quality
testis	UBERON:0000473	87.77	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.47	gold quality
adult organism	UBERON:0007023	82.89	gold quality
mucosa of paranasal sinus	UBERON:0005030	82.17	gold quality
fallopian tube	UBERON:0003889	77.52	gold quality
oviduct epithelium	UBERON:0004804	76.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.98	silver quality
epithelium of nasopharynx	UBERON:0001951	74.33	gold quality
kidney epithelium	UBERON:0004819	72.84	gold quality
pancreatic ductal cell	CL:0002079	69.17	silver quality
nasal cavity mucosa	UBERON:0001826	67.40	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	66.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	63.48	gold quality
right lung	UBERON:0002167	63.36	gold quality
upper arm skin	UBERON:0004263	63.05	gold quality
left uterine tube	UBERON:0001303	62.01	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	61.71	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	61.14	silver quality
islet of Langerhans	UBERON:0000006	60.86	gold quality
quadriceps femoris	UBERON:0001377	58.46	gold quality
caput epididymis	UBERON:0004358	58.10	gold quality
biceps brachii	UBERON:0001507	57.88	gold quality
vena cava	UBERON:0004087	57.76	gold quality
tibialis anterior	UBERON:0001385	57.27	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting CFAP107, 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-432-3P	100.00	67.86	705
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-3156-5P	96.93	67.36	800
HSA-MIR-7161-3P	96.79	68.79	798
HSA-MIR-1231	95.10	65.63	663

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-226m7.4	ENSDARG00000032885
mus_musculus	Cfap107	ENSMUSG00000028589
rattus_norvegicus	Cfap107	ENSRNOG00000043039

Protein

Protein identifiers

Cilia- and flagella-associated protein 107 — Q8N1D5 (reviewed: Q8N1D5)

All UniProt accessions (2): Q8N1D5, Q5VUY5

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 (2): NP_001317290, NP_689503* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037662	CFAP68/107	Family
IPR054709	CFAP107	Family

Pfam: PF22595

UniProt features (3 total): region of interest 2, 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-Q8N1D5-F1	80.26	0.22

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 65 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8_TCELL_DN, WCTCNATGGY_UNKNOWN, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, XU_GH1_EXOGENOUS_TARGETS_DN, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN, chr1p36, GOCC_AXONEMAL_MICROTUBULE, GOCC_9PLUS2_MOTILE_CILIUM, GOCC_SUPRAMOLECULAR_COMPLEX

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

GO Molecular Function (0):

GO Cellular Component (9): axonemal microtubule (GO:0005879), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), axoneme (GO:0005930), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	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
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1

Protein interactions and networks

STRING

681 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP107	AADACL3	Q5VUY0	668
CFAP107	C6orf163	Q5TEZ5	573
CFAP107	WFDC10B	Q8IUB3	507
CFAP107	OR2H2	O95918	419
CFAP107	ZNF768	Q9H5H4	418
CFAP107	VCX2	Q9H322	417
CFAP107	CFAP52	Q8N1V2	412
CFAP107	KRT37	O76014	396
CFAP107	WSCD2	Q2TBF2	395
CFAP107	NUDT18	Q6ZVK8	393
CFAP107	OTOP2	Q7RTS6	374
CFAP107	ZNRF4	Q8WWF5	372
CFAP107	HLA-DPB1	P01916	370
CFAP107	ASCC2	Q9H1I8	363
CFAP107	ABRA	Q8N0Z2	323

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CFAP107	KDM6A	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): GGPS1 (Affinity Capture-MS), MLYCD (Affinity Capture-MS), PSMG3 (Affinity Capture-MS), PSMG4 (Affinity Capture-MS), KDM6A (Affinity Capture-MS), PITRM1 (Affinity Capture-MS), PM20D2 (Affinity Capture-MS), PAXIP1 (Affinity Capture-MS), TMEM88 (Affinity Capture-MS), SLC30A5 (Affinity Capture-MS), MMADHC (Affinity Capture-MS), LONP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WRI3, A2BFC9, A2RRW4, A4QMS7, A6NJV1, A6NL82, A6QPC0, A6QQ68, A8E4X8, A8E5W8, A8QW39, A9JS51, D6REC4, F1P3Y5, G3X6E2, P0C875, Q0VB26, Q1MSJ5, Q2IA00, Q2T9Q3, Q2TA11, Q3UY96, Q494V2, Q497Q6, Q4KKZ1, Q4QR77, Q4R5Y0, Q4R8V8, Q5NC57, Q5ZIH9, Q6J272, Q6PII3, Q6ZQR2, Q6ZVS7, Q7Z4T9, Q8CFW7, Q8N1D5, Q8N6G2, Q8WW14, Q95LR0

Diamond homologs: Q2TA11, Q4KKZ1, Q8N1D5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
625539	GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)	Pathogenic

SpliceAI

414 predictions. Top by Δscore:

Variant	Effect	Δscore
1:12746540:AGGT:A	donor_loss	1.0000
1:12746542:GT:G	donor_loss	1.0000
1:12759444:G:GT	donor_gain	1.0000
1:12759465:G:GT	donor_gain	1.0000
1:12746537:GAAAG:G	donor_gain	0.9900
1:12746543:T:G	donor_loss	0.9900
1:12759463:GAGAA:G	donor_gain	0.9900
1:12759622:GGGC:G	donor_gain	0.9900
1:12746542:G:GG	donor_gain	0.9800
1:12759468:G:GG	donor_gain	0.9800
1:12759623:GGC:G	donor_gain	0.9800
1:12759465:GAA:G	donor_gain	0.9700
1:12759467:A:G	donor_gain	0.9700
1:12759397:C:T	donor_gain	0.9600
1:12759470:C:A	donor_gain	0.9600
1:12759624:GC:G	donor_gain	0.9600
1:12759625:C:G	donor_gain	0.9600
1:12759618:G:GG	donor_gain	0.9500
1:12760768:A:AG	acceptor_gain	0.9500
1:12760769:G:GG	acceptor_gain	0.9500
1:12759600:A:T	donor_gain	0.9400
1:12759308:AG:A	acceptor_gain	0.9300
1:12759309:GG:G	acceptor_gain	0.9300
1:12759436:A:T	donor_gain	0.9300
1:12759403:T:A	donor_gain	0.9200
1:12746540:AG:A	donor_gain	0.9100
1:12746541:GG:G	donor_gain	0.9100
1:12759308:AGG:A	acceptor_gain	0.8800
1:12759309:GGG:G	acceptor_gain	0.8800
1:12759617:A:AG	donor_gain	0.8700

AlphaMissense

1261 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:12759370:A:C	S96R	0.968
1:12759372:C:A	S96R	0.968
1:12759372:C:G	S96R	0.968
1:12755700:T:C	F38L	0.928
1:12755702:C:A	F38L	0.928
1:12755702:C:G	F38L	0.928
1:12746523:G:C	W31C	0.896
1:12746523:G:T	W31C	0.896
1:12759454:T:A	W124R	0.878
1:12759454:T:C	W124R	0.878
1:12746520:T:A	N30K	0.876
1:12746520:T:G	N30K	0.876
1:12746521:T:A	W31R	0.873
1:12746521:T:C	W31R	0.873
1:12759371:G:T	S96I	0.870
1:12759427:C:A	R115S	0.857
1:12746476:T:A	W16R	0.851
1:12746476:T:C	W16R	0.851
1:12759433:T:A	W117R	0.848
1:12759433:T:C	W117R	0.848
1:12746516:G:T	G29V	0.842
1:12746478:G:C	W16C	0.833
1:12746478:G:T	W16C	0.833
1:12759310:G:A	G76R	0.825
1:12759310:G:C	G76R	0.825
1:12746495:A:C	Y22S	0.819
1:12759314:T:C	L77P	0.809
1:12746506:G:C	V26L	0.806
1:12746506:G:T	V26L	0.806
1:12746516:G:A	G29E	0.806

dbSNP variants (sampled 300 via entrez): RS1000832283 (1:12760537 C>T), RS1000899706 (1:12746870 T>C), RS1000954203 (1:12753192 C>T), RS1001026343 (1:12752836 T>G), RS1001090715 (1:12748624 G>C), RS1001623331 (1:12763785 C>G), RS1001731911 (1:12748063 T>C), RS1001991596 (1:12749435 AC>A), RS1002142286 (1:12746291 A>G), RS1002273077 (1:12747924 C>T), RS1002334904 (1:12758175 C>A), RS1002337558 (1:12760152 TAA>T), RS1002502795 (1:12751448 G>A), RS1002582318 (1:12752630 C>T), RS1002634037 (1:12757134 T>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:614756

GenCC curated gene-disease

Mondo (1): cerebellar dysfunction with variable cognitive and behavioral abnormalities (MONDO:0013886)

Orphanet (1): Non-progressive cerebellar ataxia with intellectual disability (Orphanet:314647)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010396_28	Gut microbiota (bacterial taxa, hurdle binary method)	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
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

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
clothianidin	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	increases expression, affects cotreatment	1
Resveratrol	decreases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	decreases expression, affects cotreatment	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.