CATIP

Summary

CATIP (ciliogenesis associated TTC17 interacting protein, HGNC:25062) is a protein-coding gene on chromosome 2q35, encoding Ciliogenesis-associated TTC17-interacting protein (Q7Z7H3). Plays a role in primary ciliogenesis by modulating actin polymerization.

Involved in actin filament polymerization and cilium organization. Located in several cellular components, including actin cytoskeleton; nucleus; and plasma membrane. Implicated in spermatogenic failure 54.

Source: NCBI Gene 375307 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 56 total — 1 likely-pathogenic
• Phenotypes (HPO): 17
• MANE Select transcript: NM_198559

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25062
Approved symbol	CATIP
Name	ciliogenesis associated TTC17 interacting protein
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	MGC50811
Ensembl gene	ENSG00000158428
Ensembl biotype	protein_coding
OMIM	619387
Entrez	375307

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000289388, ENST00000480532, ENST00000481940, ENST00000494447, ENST00000495773, ENST00000715906, ENST00000715907, ENST00000851693, ENST00000851694, ENST00000851695, ENST00000851696

RefSeq mRNA: 2 — MANE Select: NM_198559 NM_001320865, NM_198559

CCDS: CCDS2414

Canonical transcript exons

ENST00000289388 — 10 exons

Exon	Start	End
ENSE00001038842	218357534	218357734
ENSE00001074994	218358037	218358092
ENSE00001074995	218364628	218364752
ENSE00001075001	218362735	218362902
ENSE00001339360	218357095	218357187
ENSE00001339369	218356857	218356909
ENSE00001869443	218367722	218368094
ENSE00003507596	218360573	218360659
ENSE00003562236	218367430	218367518
ENSE00003637600	218367024	218367100

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 95.62.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1955 / max 9.7597, expressed in 108 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25314	0.1482	84
25313	0.0472	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.62	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.63	gold quality
fallopian tube	UBERON:0003889	80.48	gold quality
right lobe of thyroid gland	UBERON:0001119	76.80	gold quality
thyroid gland	UBERON:0002046	75.82	gold quality
left lobe of thyroid gland	UBERON:0001120	75.39	gold quality
blood	UBERON:0000178	74.90	gold quality
adult mammalian kidney	UBERON:0000082	74.73	gold quality
monocyte	CL:0000576	74.35	gold quality
right lung	UBERON:0002167	74.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.78	gold quality
leukocyte	CL:0000738	73.74	gold quality
left testis	UBERON:0004533	73.03	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.89	gold quality
granulocyte	CL:0000094	72.83	gold quality
testis	UBERON:0000473	72.67	gold quality
right testis	UBERON:0004534	72.33	gold quality
kidney	UBERON:0002113	70.82	gold quality
metanephros cortex	UBERON:0010533	70.57	gold quality
left uterine tube	UBERON:0001303	70.07	gold quality
adenohypophysis	UBERON:0002196	69.95	gold quality
upper lobe of left lung	UBERON:0008952	68.38	gold quality
pituitary gland	UBERON:0000007	68.37	gold quality
cortex of kidney	UBERON:0001225	66.76	gold quality
lung	UBERON:0002048	65.91	gold quality
placenta	UBERON:0001987	65.39	gold quality
prostate gland	UBERON:0002367	64.27	gold quality
body of pancreas	UBERON:0001150	63.92	gold quality
bone marrow	UBERON:0002371	63.64	gold quality
bone marrow cell	CL:0002092	63.51	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

2 targeting CATIP, 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-296-5P	97.61	64.02	851
HSA-MIR-3189-5P	97.55	66.71	655

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	catip	ENSDARG00000063009
mus_musculus	Catip	ENSMUSG00000073650
rattus_norvegicus	Catip	ENSRNOG00000037835

Paralogs (1): BAMBI (ENSG00000095739)

Protein

Protein identifiers

Ciliogenesis-associated TTC17-interacting protein — Q7Z7H3 (reviewed: Q7Z7H3)

All UniProt accessions (1): Q7Z7H3

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in primary ciliogenesis by modulating actin polymerization.

Subunit / interactions. Interacts with TTC17.

Subcellular location. Nucleus. Cytoplasm. Cell membrane. Cytoskeleton.

Tissue specificity. Strongly expressed in round and elongating spermatids, weakly in pachytene spermatocytes. Expressed in Leydig cells (at protein level). Expressed in testis, placenta, prostate and lung, and moderately in ovary and brain.

Disease relevance. Spermatogenic failure 54 (SPGF54) [MIM:619379] An autosomal recessive male infertility disorder characterized by oligoteratoasthenozoospermia. Semen analysis shows markedly reduced sperm counts and severely reduced or absent sperm motility. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the CATIP family.

RefSeq proteins (2): NP_001307794, NP_940961* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR047501	DD_CATIP	Domain
IPR048777	CATIP_N	Domain

Pfam: PF21772

UniProt features (6 total): region of interest 2, compositionally biased region 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7H3-F1	86.37	0.64

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 64 (showing top): GOBP_CILIUM_ORGANIZATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_CELL_PROJECTION_ORGANIZATION, KONDO_PROSTATE_CANCER_HCP_WITH_H3K27ME3, SMAD4_Q6, GOBP_ACTIN_POLYMERIZATION_OR_DEPOLYMERIZATION, GOBP_PROTEIN_POLYMERIZATION, GOBP_SUPRAMOLECULAR_FIBER_ORGANIZATION, CCTNTMAGA_UNKNOWN, FOXJ2_TARGET_GENES, ZFP91_TARGET_GENES, HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY, HP_DECREASED_FERTILITY, HP_INFERTILITY, HP_OLIGOZOOSPERMIA

GO Biological Process (3): actin filament polymerization (GO:0030041), cilium organization (GO:0044782), cell projection organization (GO:0030030)

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

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), cytoskeleton (GO:0005856), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
actin polymerization or depolymerization	1
protein polymerization	1
organelle organization	1
plasma membrane bounded cell projection organization	1
cellular component organization	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
cytoskeleton	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

586 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CATIP	TEX55	Q96M34	582
CATIP	TPGS1	Q6ZTW0	572
CATIP	VWC2L	B2RUY7	563
CATIP	AK8	Q96MA6	526
CATIP	FBXL13	Q8NEE6	520
CATIP	PCYT1B	Q9Y5K3	507
CATIP	ROPN1L	Q96C74	505
CATIP	ROPN1	Q9HAT0	503
CATIP	ROPN1B	Q9BZX4	502
CATIP	EFCAB10	A6NFE3	491
CATIP	CABYR	O75952	485
CATIP	OR2K2	Q8NGT1	447
CATIP	ODAD2	Q5T2S8	414
CATIP	ODAD4	Q96NG3	399
CATIP	K7N7A8	K7N7A8	384

IntAct

57 interactions, top by confidence:

A	B	Type	Score
CATIP	KRT31	psi-mi:“MI:0915”(physical association)	0.720
KRT31	CATIP	psi-mi:“MI:0915”(physical association)	0.720
	CATIP	psi-mi:“MI:0915”(physical association)	0.560
CATIP	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-9	CATIP	psi-mi:“MI:0915”(physical association)	0.560
CATIP	MTUS2	psi-mi:“MI:0915”(physical association)	0.560
CATIP	KRT40	psi-mi:“MI:0915”(physical association)	0.560
CATIP	CTNNBL1	psi-mi:“MI:0915”(physical association)	0.560
BRD9	CATIP	psi-mi:“MI:0915”(physical association)	0.560
CEP72	CATIP	psi-mi:“MI:0915”(physical association)	0.560
CATIP		psi-mi:“MI:0915”(physical association)	0.560
CATIP	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.560
KRT40	CATIP	psi-mi:“MI:0915”(physical association)	0.560
CTNNBL1	CATIP	psi-mi:“MI:0915”(physical association)	0.560
CATIP	CEP72	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	CATIP	psi-mi:“MI:0915”(physical association)	0.560
CATIP	BRD9	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (19): CATIP (Two-hybrid), CATIP (Two-hybrid), CATIP (Two-hybrid), CATIP (Two-hybrid), CATIP (Two-hybrid), CATIP (Two-hybrid), CATIP (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-3 (Two-hybrid), CATIP (Two-hybrid), CATIP (Two-hybrid), CATIP (Two-hybrid), CATIP (Two-hybrid), HESX1 (Two-hybrid)

ESM2 similar proteins: A0JNQ6, A2RT67, A2RUS2, A6NC42, A6NGQ2, A9X185, O75031, O75817, O94955, O95267, P50747, Q06VW1, Q0II25, Q0ZFW8, Q1RMS8, Q1RMZ1, Q29108, Q2TBA3, Q3T0J1, Q3TYS2, Q4VX76, Q568D5, Q568M3, Q587J7, Q5JSQ8, Q5T9G4, Q5ZLS2, Q62522, Q69ZK0, Q6AYA6, Q6P5G6, Q7Z7H3, Q80X86, Q86WV5, Q8BXK4, Q8C0Q9, Q8CHQ0, Q8TCU6, Q8WUE5, Q91Z62

Diamond homologs: A6NNX1, B9EKE5, M0RAU5, Q0IHI3, Q32PB2, Q3KNY5, Q7Z7H3, Q08CH6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	50
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1172755	NM_198559.2(CATIP):c.103T>A (p.Phe35Ile)	Likely pathogenic

SpliceAI

1858 predictions. Top by Δscore:

Variant	Effect	Δscore
2:218360571:A:AG	acceptor_gain	1.0000
2:218360572:G:GG	acceptor_gain	1.0000
2:218364615:T:TA	acceptor_gain	1.0000
2:218364626:A:AG	acceptor_gain	1.0000
2:218364627:G:GG	acceptor_gain	1.0000
2:218364627:GC:G	acceptor_gain	1.0000
2:218366570:G:T	donor_gain	1.0000
2:218367099:GG:G	donor_gain	1.0000
2:218367100:GG:G	donor_gain	1.0000
2:218367716:T:TA	acceptor_gain	1.0000
2:218367720:A:AG	acceptor_gain	1.0000
2:218367721:G:GG	acceptor_gain	1.0000
2:218357188:G:GG	donor_gain	0.9900
2:218362698:T:TA	acceptor_gain	0.9900
2:218362899:C:G	donor_gain	0.9900
2:218362903:G:GG	donor_gain	0.9900
2:218364616:G:A	acceptor_gain	0.9900
2:218364619:T:A	acceptor_gain	0.9900
2:218364622:T:A	acceptor_gain	0.9900
2:218364627:GCA:G	acceptor_gain	0.9900
2:218364627:GCAA:G	acceptor_gain	0.9900
2:218364627:GCAAA:G	acceptor_gain	0.9900
2:218364750:TGGG:T	donor_loss	0.9900
2:218364751:GG:G	donor_gain	0.9900
2:218364752:GG:G	donor_gain	0.9900
2:218364753:G:GA	donor_loss	0.9900
2:218364753:G:GG	donor_gain	0.9900
2:218364754:T:A	donor_loss	0.9900
2:218364755:GA:G	donor_loss	0.9900
2:218365618:T:TA	acceptor_gain	0.9900

AlphaMissense

2533 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:218362818:G:C	R182S	0.982
2:218362818:G:T	R182S	0.982
2:218362817:G:C	R182T	0.978
2:218364752:G:A	G252E	0.975
2:218367791:T:C	F331L	0.972
2:218367793:C:A	F331L	0.972
2:218367793:C:G	F331L	0.972
2:218367840:C:A	A347D	0.972
2:218362817:G:T	R182M	0.970
2:218362859:T:C	F196S	0.966
2:218364752:G:T	G252V	0.966
2:218367836:T:C	F346L	0.964
2:218367838:C:A	F346L	0.964
2:218367838:C:G	F346L	0.964
2:218367504:T:C	F303L	0.962
2:218367506:C:A	F303L	0.962
2:218367506:C:G	F303L	0.962
2:218364751:G:T	G252W	0.961
2:218367792:T:C	F331S	0.959
2:218367514:G:C	R306P	0.958
2:218362858:T:C	F196L	0.957
2:218362860:C:A	F196L	0.957
2:218362860:C:G	F196L	0.957
2:218367025:C:G	H253D	0.957
2:218367032:C:A	A255D	0.956
2:218367474:T:A	W293R	0.956
2:218367474:T:C	W293R	0.956
2:218357612:T:C	L66P	0.954
2:218367848:T:C	F350L	0.953
2:218367850:C:A	F350L	0.953

dbSNP variants (sampled 300 via entrez): RS1000097055 (2:218366957 A>G), RS1000149248 (2:218367349 T>A,C), RS1000726209 (2:218358816 C>T), RS1000864296 (2:218365105 A>C), RS1001614594 (2:218362556 A>C,G,T), RS1001794094 (2:218368305 C>T), RS1001855154 (2:218363757 T>C), RS1001869450 (2:218366429 G>A), RS1002127160 (2:218360351 C>G,T), RS1002344706 (2:218357712 G>A,C), RS1002351421 (2:218363978 G>A,T), RS1002509571 (2:218355874 T>G), RS1002627450 (2:218359061 G>A,T), RS1002678374 (2:218359363 A>T), RS1002712220 (2:218361796 C>T)

Disease associations

OMIM: gene MIM:619387 | disease phenotypes: MIM:619379

GenCC curated gene-disease

Mondo (2): spermatogenic failure 54 (MONDO:0023664), breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

17 total (17 of 17 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000118	Phenotypic abnormality
HP:0000798	Oligozoospermia
HP:0000837	Increased circulating gonadotropin level
HP:0003251	Male infertility
HP:0008669	Abnormal spermatogenesis
HP:0008734	Decreased testicular size
HP:0011462	Young adult onset
HP:0011961	Non-obstructive azoospermia
HP:0011962	Obstructive azoospermia
HP:0012207	Reduced sperm motility
HP:0030974	Cryptozoospermia
HP:0032559	Short sperm flagella
HP:0032560	Coiled sperm flagella
HP:0032562	Tapered sperm head
HP:0033524	Abnormal sperm axoneme morphology

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST90020028_758	Hip circumference adjusted for BMI	1.000000e-08
GCST90020028_760	Hip circumference adjusted for BMI	8.000000e-12
GCST90020028_761	Hip circumference adjusted for BMI	9.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

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	increases expression	1
dimethylselenide	increases expression, increases oxidation	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	increases expression, affects cotreatment	1
Ozone	increases oxidation, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Hydroxyl Radical	increases expression, increases oxidation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery