CFAP157

Summary

CFAP157 (cilia and flagella associated protein 157, HGNC:27843) is a protein-coding gene on chromosome 9q34.11, encoding Cilia- and flagella-associated protein 157 (Q5JU67). Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility.

Predicted to enable microtubule binding activity. Predicted to be involved in sperm axoneme assembly. Predicted to be located in cilium; cytoplasm; and cytoskeleton. Predicted to be active in ciliary basal body.

Source: NCBI Gene 286207 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 157 total — 3 pathogenic
• MANE Select transcript: NM_001012502

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27843
Approved symbol	CFAP157
Name	cilia and flagella associated protein 157
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000160401
Ensembl biotype	protein_coding
Entrez	286207

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 retained_intron, 3 protein_coding

ENST00000373293, ENST00000373295, ENST00000461104, ENST00000464092, ENST00000496009, ENST00000614677

RefSeq mRNA: 1 — MANE Select: NM_001012502 NM_001012502

CCDS: CCDS43878

Canonical transcript exons

ENST00000373295 — 9 exons

Exon	Start	End
ENSE00001400439	127713834	127716002
ENSE00001678842	127710601	127710754
ENSE00001699182	127711820	127711950
ENSE00001709850	127712199	127712349
ENSE00001759782	127712709	127712875
ENSE00002319334	127706988	127707192
ENSE00003620189	127713020	127713206
ENSE00003668946	127711229	127711496
ENSE00003685461	127709422	127709693

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 99.70.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4375 / max 62.0764, expressed in 79 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98648	0.3219	68
98649	0.1156	44

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.70	gold quality
bronchial epithelial cell	CL:0002328	97.27	gold quality
bronchus	UBERON:0002185	96.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.01	gold quality
oviduct epithelium	UBERON:0004804	94.10	gold quality
fallopian tube	UBERON:0003889	90.90	gold quality
buccal mucosa cell	CL:0002336	90.17	silver quality
mucosa of paranasal sinus	UBERON:0005030	88.02	gold quality
left uterine tube	UBERON:0001303	87.23	gold quality
sperm	CL:0000019	85.77	silver quality
right lung	UBERON:0002167	84.60	gold quality
epithelium of nasopharynx	UBERON:0001951	84.38	gold quality
nasal cavity epithelium	UBERON:0005384	82.78	gold quality
left testis	UBERON:0004533	82.47	gold quality
right testis	UBERON:0004534	81.88	gold quality
testis	UBERON:0000473	79.70	gold quality
adenohypophysis	UBERON:0002196	79.61	gold quality
pituitary gland	UBERON:0000007	79.38	gold quality
tendon of biceps brachii	UBERON:0008188	78.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.65	gold quality
endocervix	UBERON:0000458	77.39	gold quality
nasal cavity mucosa	UBERON:0001826	75.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.10	gold quality
trachea	UBERON:0003126	74.68	gold quality
endothelial cell	CL:0000115	74.44	silver quality
pancreatic ductal cell	CL:0002079	73.85	silver quality
upper lobe of left lung	UBERON:0008952	73.21	gold quality
hypothalamus	UBERON:0001898	73.09	gold quality
ileal mucosa	UBERON:0000331	72.96	silver quality
upper lobe of lung	UBERON:0008948	72.63	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-15	yes	2613.42
E-CURD-122	yes	867.63
E-GEOD-180759	yes	791.47
E-CURD-114	yes	696.77
E-HCAD-1	yes	28.37
E-MTAB-10287	yes	26.92
E-GEOD-130148	yes	12.39
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting CFAP157, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-134-5P	97.11	66.52	976
HSA-MIR-3118	97.11	66.58	984

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap157	ENSDARG00000099042
mus_musculus	Cfap157	ENSMUSG00000038987
rattus_norvegicus	Cfap157	ENSRNOG00000039315
drosophila_melanogaster	CG17122	FBGN0036962

Protein

Protein identifiers

Cilia- and flagella-associated protein 157 — Q5JU67 (reviewed: Q5JU67)

All UniProt accessions (2): Q5JU67, A0A096LP78

UniProt curated annotations — full annotation on UniProt →

Function. Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure.

Subunit / interactions. Interacts with TUBB and TUBA4A. Interacts with CEP350.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium basal body.

Similarity. Belongs to the CFAP157 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5JU67-1	1	yes
Q5JU67-2	2

RefSeq proteins (1): NP_001012520* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038844	CFAP157	Family

UniProt features (10 total): region of interest 2, coiled-coil region 2, compositionally biased region 2, splice variant 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JU67-F1	78.75	0.54

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 70 (showing top): GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, GOMF_CYTOSKELETAL_PROTEIN_BINDING

GO Biological Process (3): sperm axoneme assembly (GO:0007288), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (1): microtubule binding (GO:0008017)

GO Cellular Component (5): ciliary basal body (GO:0036064), 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
developmental process involved in reproduction	2
cellular anatomical structure	2
axoneme assembly	1
sperm flagellum assembly	1
male gamete generation	1
cellular developmental process	1
tubulin binding	1
microtubule organizing center	1
cilium	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

414 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP157	ODAD3	A5D8V7	501
CFAP157	CCDC33	Q8N5R6	470
CFAP157	DRC7	Q8IY82	467
CFAP157	ODAD2	Q5T2S8	442
CFAP157	ARMC3	Q5W041	433
CFAP157	CFAP73	A6NFT4	419
CFAP157	LDLRAD1	Q5T700	418
CFAP157	TVP23C	Q96ET8	396
CFAP157	FOXJ1	Q92949	393
CFAP157	A0A0A6YYB9	A0A0A6YYB9	392
CFAP157	ODAD1	Q96M63	386
CFAP157	CEP350	Q5VT06	378
CFAP157	DNAH5	Q8TE73	366
CFAP157	CFAP74	Q9C0B2	358
CFAP157	EFHC1	Q5JVL4	348

IntAct

4 interactions, top by confidence:

A	B	Type	Score
CFAP157	GOLGB1	psi-mi:“MI:0915”(physical association)	0.400
	CFAP157	psi-mi:“MI:0915”(physical association)	0.370
CUL4B	APBB1	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): C9orf117 (Proximity Label-MS), C9orf117 (Proximity Label-MS), C9orf117 (Cross-Linking-MS (XL-MS)), C9orf117 (Cross-Linking-MS (XL-MS)), LSG1 (Cross-Linking-MS (XL-MS)), C9orf117 (Affinity Capture-MS), C9orf117 (Affinity Capture-MS)

ESM2 similar proteins: A0JMQ7, A0JMY4, A2AUM9, A2BDR7, A2BGP7, A6NI79, A6PWD2, A6QNP9, B1AJZ9, D3YV10, G9G127, O35550, O35551, O75330, O94986, P0CB05, Q05D60, Q0VFN8, Q0VFX2, Q15276, Q17QT2, Q3UPP8, Q498G2, Q4KLY0, Q4PJT6, Q4R703, Q4V7B0, Q5JU67, Q5NVN6, Q5U3A8, Q5U3Z6, Q5U4W1, Q5ZL12, Q66KE8, Q6DFC2, Q6DIS8, Q6IMY1, Q6NRC9, Q6P402, Q7M6Y5

Diamond homologs: A2BDR7, Q0VFN8, Q0VFX2, Q4V7B0, Q5JU67

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	134
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1527563	GRCh37/hg19 9q34.11(chr9:130392953-130526044)	Pathogenic
625638	GRCh37/hg19 9q34.11(chr9:130335766-130517907)	Pathogenic
932281	GRCh37/hg19 9q34.11(chr9:130435492-130485618)x1	Pathogenic

SpliceAI

2055 predictions. Top by Δscore:

Variant	Effect	Δscore
9:127707188:GCCCG:G	donor_gain	1.0000
9:127707191:CGGTG:C	donor_loss	1.0000
9:127707193:GTGC:G	donor_loss	1.0000
9:127709691:TTGG:T	donor_loss	1.0000
9:127709692:TG:T	donor_loss	1.0000
9:127709695:T:A	donor_loss	1.0000
9:127711222:T:A	acceptor_gain	1.0000
9:127711223:G:A	acceptor_gain	1.0000
9:127711224:GCCA:G	acceptor_loss	1.0000
9:127711226:CA:C	acceptor_loss	1.0000
9:127711227:A:AC	acceptor_loss	1.0000
9:127711227:A:AG	acceptor_gain	1.0000
9:127711228:G:GG	acceptor_gain	1.0000
9:127711228:GA:G	acceptor_gain	1.0000
9:127711228:GAC:G	acceptor_gain	1.0000
9:127711228:GACT:G	acceptor_gain	1.0000
9:127711392:GAGAA:G	donor_gain	1.0000
9:127711411:G:GT	donor_gain	1.0000
9:127711411:G:T	donor_gain	1.0000
9:127711509:GCC:G	donor_gain	1.0000
9:127711816:GCA:G	acceptor_loss	1.0000
9:127711817:CA:C	acceptor_loss	1.0000
9:127711818:A:AG	acceptor_gain	1.0000
9:127711818:AG:A	acceptor_loss	1.0000
9:127711819:G:GA	acceptor_gain	1.0000
9:127711819:GAT:G	acceptor_gain	1.0000
9:127711819:GATC:G	acceptor_gain	1.0000
9:127711944:C:T	donor_gain	1.0000
9:127711951:G:GG	donor_gain	1.0000
9:127712346:GCAG:G	donor_gain	1.0000

AlphaMissense

3435 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:127709520:T:C	L87P	0.994
9:127709516:T:C	F86L	0.993
9:127709518:C:A	F86L	0.993
9:127709518:C:G	F86L	0.993
9:127709670:T:C	L137P	0.989
9:127709562:T:C	L101P	0.988
9:127707174:T:C	L48P	0.986
9:127710627:T:C	F154L	0.986
9:127710629:C:A	F154L	0.986
9:127710629:C:G	F154L	0.986
9:127709640:G:C	R127P	0.985
9:127707183:G:C	R51P	0.984
9:127709574:T:C	L105P	0.983
9:127709621:G:C	A121P	0.982
9:127711252:G:C	R204P	0.982
9:127707186:T:C	L52P	0.981
9:127709532:T:C	L91P	0.981
9:127709628:T:C	L123P	0.980
9:127711266:G:C	A209P	0.979
9:127711320:G:C	A227P	0.978
9:127709526:G:C	R89P	0.975
9:127711275:T:C	F212L	0.973
9:127711277:C:A	F212L	0.973
9:127711277:C:G	F212L	0.973
9:127707192:G:C	R54P	0.972
9:127710615:G:C	A150P	0.970
9:127710628:T:C	F154S	0.970
9:127709612:G:C	A118P	0.969
9:127710610:T:C	L148P	0.969
9:127711231:T:C	L197P	0.969

dbSNP variants (sampled 300 via entrez): RS1000115192 (9:127712714 C>A,G,T), RS1000281861 (9:127716006 C>A,G,T), RS1000301801 (9:127706595 A>G), RS1000793078 (9:127710514 G>A), RS1001518546 (9:127705936 G>A), RS1001570668 (9:127705555 G>A), RS1001606731 (9:127714940 G>A,T), RS1001751258 (9:127712088 C>T), RS1001899207 (9:127707323 C>A,T), RS1002295485 (9:127713199 G>A,C,T), RS1002352970 (9:127707070 G>C), RS1002364537 (9:127713693 G>C), RS1002794558 (9:127707350 T>C), RS1003622928 (9:127712279 A>G), RS1003907312 (9:127710498 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:612164

GenCC curated gene-disease

Mondo (1): developmental and epileptic encephalopathy, 4 (MONDO:0012812)

Orphanet (3): Early infantile developmental and epileptic encephalopathy (Orphanet:1934), Dravet syndrome (Orphanet:33069), STXBP1-related encephalopathy (Orphanet:599373)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567404	Epileptic Encephalopathy, Early Infantile, 4 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	increases abundance, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Estradiol	increases expression	1
Malathion	decreases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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