CIMAP1B

Summary

CIMAP1B (ciliary microtubule associated protein 1B, HGNC:34388) is a protein-coding gene on chromosome 22q13.33, encoding Ciliary microtubule associated protein 1B (A8MYP8).

Predicted to be located in motile cilium. Predicted to be active in cytoskeleton.

Source: NCBI Gene 440836 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_001014440

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34388
Approved symbol	CIMAP1B
Name	ciliary microtubule associated protein 1B
Location	22q13.33
Locus type	gene with protein product
Status	Approved
Aliases	FAP123
Ensembl gene	ENSG00000177989
Ensembl biotype	protein_coding
Entrez	440836

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 13 protein_coding, 3 retained_intron

ENST00000329363, ENST00000401779, ENST00000403326, ENST00000405135, ENST00000428989, ENST00000437588, ENST00000463472, ENST00000468249, ENST00000469660, ENST00000682240, ENST00000857928, ENST00000857929, ENST00000857930, ENST00000857931, ENST00000857932, ENST00000913608

RefSeq mRNA: 4 — MANE Select: NM_001014440 NM_001014440, NM_001382807, NM_001382808, NM_001410791

CCDS: CCDS43039, CCDS93188, CCDS93189, CCDS93190

Canonical transcript exons

ENST00000329363 — 7 exons

Exon	Start	End
ENSE00001326754	50531570	50531773
ENSE00001540791	50531969	50532111
ENSE00001540792	50532477	50532498
ENSE00001554832	50530426	50530560
ENSE00003512072	50530712	50530852
ENSE00003601846	50531191	50531295
ENSE00003656944	50530937	50531058

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 99.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3477 / max 378.0832, expressed in 1223 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194770	3.1448	913
194772	2.5395	576
194765	1.0338	285
194764	0.5547	241
194766	0.4627	211
194767	0.4556	146
194769	0.4339	194
194771	0.3979	149
194768	0.3249	167

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.71	gold quality
pancreatic ductal cell	CL:0002079	99.17	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.64	gold quality
granulocyte	CL:0000094	98.47	gold quality
bronchial epithelial cell	CL:0002328	98.16	gold quality
bronchus	UBERON:0002185	97.22	gold quality
monocyte	CL:0000576	97.21	gold quality
apex of heart	UBERON:0002098	96.78	gold quality
leukocyte	CL:0000738	96.50	gold quality
right lung	UBERON:0002167	94.68	gold quality
vermiform appendix	UBERON:0001154	93.89	gold quality
upper lobe of left lung	UBERON:0008952	93.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.35	gold quality
minor salivary gland	UBERON:0001830	93.06	gold quality
left uterine tube	UBERON:0001303	92.86	gold quality
right lobe of liver	UBERON:0001114	92.72	gold quality
upper lobe of lung	UBERON:0008948	92.46	gold quality
omental fat pad	UBERON:0010414	92.17	gold quality
peritoneum	UBERON:0002358	92.09	gold quality
right lobe of thyroid gland	UBERON:0001119	91.84	gold quality
spleen	UBERON:0002106	91.71	gold quality
left lobe of thyroid gland	UBERON:0001120	91.64	gold quality
adipose tissue of abdominal region	UBERON:0007808	91.43	gold quality
bone marrow cell	CL:0002092	90.62	gold quality
mouth mucosa	UBERON:0003729	90.59	gold quality
thyroid gland	UBERON:0002046	90.30	gold quality
saliva-secreting gland	UBERON:0001044	90.28	gold quality
subcutaneous adipose tissue	UBERON:0002190	89.83	gold quality
fallopian tube	UBERON:0003889	89.13	gold quality
right atrium auricular region	UBERON:0006631	88.74	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-15	yes	1730.16
E-CURD-114	yes	65.21
E-HCAD-1	yes	32.41
E-MTAB-10287	yes	27.80
E-CURD-112	yes	15.57
E-MTAB-7303	no	58.99
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	trim35-30	ENSDARG00000042396
mus_musculus	Cimap1b	ENSMUSG00000047394
rattus_norvegicus	Cimap1b	ENSRNOG00000037060

Paralogs (5): STPG1 (ENSG00000001460), STPG2 (ENSG00000163116), CIMAP1A (ENSG00000177947), CIMAP1D (ENSG00000181781), CIMAP1C (ENSG00000182950)

Protein

Protein identifiers

Ciliary microtubule associated protein 1B — A8MYP8 (reviewed: A8MYP8)

Alternative names: Outer dense fiber protein 3-like protein 3, Outer dense fiber protein 3B

All UniProt accessions (6): A0A8C8KQ56, A8MYP8, B5MC17, B5MCN9, B5MD02, C9JUR5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell projection. Cilium. Flagellum.

Similarity. Belongs to the CIMAP family.

Isoforms (2)

UniProt ID	Names	Canonical?
A8MYP8-1	1	yes
A8MYP8-2	2

RefSeq proteins (4): NP_001014440, NP_001369736, NP_001369737, NP_001397720 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010736	SHIPPO-rpt	Repeat
IPR051291	CIMAP	Family

Pfam: PF07004

UniProt features (5 total): splice variant 3, chain 1, repeat 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MYP8-F1	73.82	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): ACTACCT_MIR196A_MIR196B, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_MOTILE_CILIUM, chr22q13, GOCC_CILIUM, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, MARTENS_TRETINOIN_RESPONSE_DN, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_DN, GSE5503_PLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_UP, CREB3L4_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (4): cytoskeleton (GO:0005856), motile cilium (GO:0031514), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intracellular membraneless organelle	1
cilium	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cellular anatomical structure	1

Protein interactions and networks

STRING

540 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CIMAP1B	LMF2	Q9BU23	502
CIMAP1B	ODF4	Q2M2E3	461
CIMAP1B	MORN5	Q5VZ52	459
CIMAP1B	NCAPH2	Q6IBW4	419
CIMAP1B	DTHD1	Q6ZMT9	410
CIMAP1B	CFAP161	Q6P656	388
CIMAP1B	CHKB	Q9Y259	375
CIMAP1B	CCDC60	Q8IWA6	373
CIMAP1B	SCO2	O43819	370
CIMAP1B	STPG2	Q8N412	367
CIMAP1B	DMRT1	Q9Y5R6	366
CIMAP1B	NANOS2	P60321	359
CIMAP1B	TBC1D22A	Q8WUA7	355
CIMAP1B	SYCE3	A1L190	351
CIMAP1B	PKDREJ	Q9NTG1	348

IntAct

25 interactions, top by confidence:

A	B	Type	Score
CIMAP1B	ACTN3	psi-mi:“MI:0915”(physical association)	0.560
CIMAP1B	SPTA1	psi-mi:“MI:0915”(physical association)	0.560
CIMAP1B	MDFI	psi-mi:“MI:0915”(physical association)	0.560
CIMAP1B	HSF2BP	psi-mi:“MI:0915”(physical association)	0.560
CIMAP1B	FHL3	psi-mi:“MI:0915”(physical association)	0.560
CIMAP1B	KRTAP3-3	psi-mi:“MI:0915”(physical association)	0.560
CIMAP1B	MKRN3	psi-mi:“MI:0915”(physical association)	0.560
CIMAP1B	ACTN2	psi-mi:“MI:0915”(physical association)	0.560
CIMAP1B	ACTN3	psi-mi:“MI:0915”(physical association)	0.000
CIMAP1B	SPTA1	psi-mi:“MI:0915”(physical association)	0.000
CIMAP1B	ACTN2	psi-mi:“MI:0915”(physical association)	0.000
CIMAP1B	MDFI	psi-mi:“MI:0915”(physical association)	0.000
CIMAP1B	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
CIMAP1B	KRTAP3-3	psi-mi:“MI:0915”(physical association)	0.000
CIMAP1B	FHL3	psi-mi:“MI:0915”(physical association)	0.000
CIMAP1B	MKRN3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): ODF3B (Two-hybrid), ODF3B (Two-hybrid), ODF3B (Two-hybrid), ODF3B (Two-hybrid), MKRN3 (Two-hybrid), FHL3 (Two-hybrid), KRTAP3-3 (Two-hybrid), ACTN3 (Two-hybrid), ODF3B (Proximity Label-MS)

ESM2 similar proteins: A1A5R9, A2RSX4, A5WUY6, A6QQ60, A8MTA8, A8MYP8, B1AR13, H3BNL1, O94888, P21580, P54277, Q08BC4, Q13542, Q14161, Q14CM0, Q2TBS4, Q3KQ80, Q3UGM2, Q4KLY8, Q4R8V9, Q4R8W3, Q5BK20, Q5M8M2, Q5RDJ2, Q5RDU9, Q5REY7, Q5TH74, Q5ZLS2, Q60769, Q658L1, Q6IE70, Q6KAU4, Q6P5G6, Q6PGH2, Q6ZWH5, Q8BGF7, Q8BQB6, Q8C8J0, Q8IWR0, Q8K2D3

Diamond homologs: A3KQA5, A8MYP8, Q2TBH0, Q3TZ65, Q5EB30, Q5M8M2, Q8AVY1, Q920N1, Q96PU9, Q3SX64, Q8IXM7, Q810P2, Q2KIH8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

947 predictions. Top by Δscore:

Variant	Effect	Δscore
22:50531520:C:A	donor_gain	1.0000
22:50530944:AGGT:A	donor_gain	0.9900
22:50530947:T:TA	donor_gain	0.9900
22:50532249:T:TA	donor_gain	0.9900
22:50532253:T:TA	donor_gain	0.9900
22:50532254:C:A	donor_gain	0.9900
22:50530744:T:TA	donor_gain	0.9800
22:50531056:GACC:G	acceptor_loss	0.9800
22:50531057:ACCTG:A	acceptor_loss	0.9800
22:50531058:CCTG:C	acceptor_loss	0.9800
22:50531059:C:T	acceptor_loss	0.9800
22:50531060:T:A	acceptor_loss	0.9800
22:50532218:ATC:A	donor_gain	0.9800
22:50532472:CTGA:C	donor_loss	0.9800
22:50532473:TGA:T	donor_loss	0.9800
22:50532474:GA:G	donor_loss	0.9800
22:50532475:A:T	donor_loss	0.9800
22:50532476:C:T	donor_loss	0.9800
22:50530931:CCCCA:C	donor_loss	0.9700
22:50530932:CCCA:C	donor_loss	0.9700
22:50530933:CCACC:C	donor_loss	0.9700
22:50530934:CA:C	donor_loss	0.9700
22:50530936:C:CG	donor_loss	0.9700
22:50531960:C:A	donor_gain	0.9700
22:50530561:C:CC	acceptor_gain	0.9600
22:50532210:TGG:T	donor_gain	0.9600
22:50531958:G:A	donor_gain	0.9500
22:50532006:T:TA	donor_gain	0.9500
22:50530675:T:A	donor_gain	0.9400
22:50530686:AC:A	donor_gain	0.9400

AlphaMissense

1595 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:50531730:G:C	F51L	0.964
22:50531730:G:T	F51L	0.964
22:50531732:A:G	F51L	0.964
22:50530787:G:C	F202L	0.963
22:50530787:G:T	F202L	0.963
22:50530789:A:G	F202L	0.963
22:50530537:A:C	S235R	0.948
22:50530537:A:T	S235R	0.948
22:50530539:T:G	S235R	0.948
22:50532050:A:G	W10R	0.946
22:50532050:A:T	W10R	0.946
22:50532048:C:A	W10C	0.934
22:50532048:C:G	W10C	0.934
22:50530534:G:C	F236L	0.933
22:50530534:G:T	F236L	0.933
22:50530536:A:G	F236L	0.933
22:50531990:A:G	Y30H	0.921
22:50531969:C:G	G37R	0.919
22:50531773:C:T	G37D	0.915
22:50530845:C:T	G183D	0.913
22:50531990:A:C	Y30D	0.907
22:50531235:A:T	I125N	0.895
22:50530532:C:T	G237E	0.894
22:50530524:G:C	H240D	0.893
22:50531617:A:G	I89T	0.890
22:50530533:C:A	G237W	0.886
22:50531758:T:C	D42G	0.886
22:50531989:T:G	Y30S	0.885
22:50531575:C:T	G103E	0.882
22:50531773:C:A	G37V	0.875

dbSNP variants (sampled 300 via entrez): RS1000626842 (22:50532682 G>A), RS1001006901 (22:50532560 T>C), RS1001517384 (22:50531172 T>A), RS1001849684 (22:50532259 C>A,T), RS1002090297 (22:50532450 G>A,C), RS1003093758 (22:50532455 C>T), RS1003426235 (22:50531345 G>A,T), RS1003520206 (22:50532210 T>C), RS1003529111 (22:50533411 C>T), RS1003771140 (22:50533579 G>T), RS1004248660 (22:50534175 G>A), RS1004477906 (22:50534078 G>A,T), RS1004810560 (22:50533001 C>G), RS1004995392 (22:50533219 AG>A), RS1005674391 (22:50530803 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST001198_66	Multiple sclerosis	2.000000e-08
GCST001762_709	Obesity-related traits	9.000000e-06
GCST001765_31	Red blood cell traits	5.000000e-23
GCST004146_29	Chronic lymphocytic leukemia	3.000000e-09
GCST004601_212	Red blood cell count	2.000000e-43
GCST004602_304	Mean corpuscular volume	2.000000e-129
GCST004622_98	Reticulocyte count	3.000000e-16
GCST004630_49	Mean corpuscular hemoglobin	3.000000e-94
GCST005996_9	Red blood cell count	4.000000e-10
GCST006011_4	Mean corpuscular volume	6.000000e-54
GCST009597_141	Multiple sclerosis	1.000000e-21
GCST012020_516	Serum metabolite levels	4.000000e-23
GCST90002385_586	High light scatter reticulocyte count	8.000000e-29
GCST90002386_498	High light scatter reticulocyte percentage of red cells	1.000000e-14
GCST90002390_286	Mean corpuscular hemoglobin	1.000000e-35
GCST90002392_232	Mean corpuscular volume	2.000000e-57
GCST90002394_213	Monocyte percentage of white cells	2.000000e-13
GCST90002396_96	Mean reticulocyte volume	5.000000e-76
GCST90002397_614	Mean spheric corpuscular volume	3.000000e-93
GCST90002403_710	Red blood cell count	7.000000e-102
GCST90002405_425	Reticulocyte count	1.000000e-62
GCST90002406_576	Reticulocyte fraction of red cells	1.000000e-33

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005106	body composition measurement
EFO:0004305	erythrocyte count
EFO:0007986	reticulocyte count
EFO:0004527	mean corpuscular hemoglobin
EFO:0007989	monocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume

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

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
mercuric bromide	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
ferrous chloride	decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Air Pollutants, Occupational	affects expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Oxygen	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Triclosan	increases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	increases expression	1
Lactic Acid	increases 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