MYCBPAP

Summary

MYCBPAP (MYCBP associated protein, HGNC:19677) is a protein-coding gene on chromosome 17q21.33, encoding MYCBP-associated protein (Q8TBZ2). Plays a crucial role in centrosome-nuclear envelope docking during spermiogenesis, a key step for anchoring the centrosome to the nucleus that is essential for proper sperm flagellum biogenesis.

Predicted to enable clathrin binding activity and phospholipid binding activity. Involved in spermatogenesis. Located in cytoplasm.

Source: NCBI Gene 84073 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spermatogenic failure (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 158 total
• MANE Select transcript: NM_032133

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19677
Approved symbol	MYCBPAP
Name	MYCBP associated protein
Location	17q21.33
Locus type	gene with protein product
Status	Approved
Aliases	AMAP-1, DKFZp434N1415
Ensembl gene	ENSG00000136449
Ensembl biotype	protein_coding
OMIM	609835
Entrez	84073

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000323776, ENST00000419930, ENST00000437498, ENST00000452039, ENST00000458692, ENST00000459754, ENST00000468821, ENST00000470609, ENST00000477744, ENST00000485169, ENST00000488432, ENST00000573066, ENST00000576179, ENST00000879749, ENST00000879750, ENST00000911417

RefSeq mRNA: 2 — MANE Select: NM_032133 NM_001366294, NM_032133

CCDS: CCDS32680

Canonical transcript exons

ENST00000323776 — 19 exons

Exon	Start	End
ENSE00000737117	50525881	50526267
ENSE00000737124	50527287	50527408
ENSE00000737139	50529018	50529188
ENSE00000819912	50522939	50523128
ENSE00000819913	50523597	50523784
ENSE00000819914	50524877	50525023
ENSE00003467574	50519640	50519787
ENSE00003468127	50521316	50521431
ENSE00003522132	50521110	50521225
ENSE00003559139	50528155	50528270
ENSE00003568899	50518541	50518724
ENSE00003568946	50517293	50517452
ENSE00003575314	50516570	50516697
ENSE00003603176	50528695	50528840
ENSE00003650471	50521973	50522081
ENSE00003668683	50517595	50517698
ENSE00003679169	50531327	50531501
ENSE00003787208	50518974	50519089
ENSE00003891376	50508439	50508750

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 98.59.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2505 / max 304.0313, expressed in 480 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161669	0.5973	279
161670	0.3134	108
161668	0.2167	99
161671	0.1230	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.59	gold quality
right testis	UBERON:0004534	98.45	gold quality
right uterine tube	UBERON:0001302	98.15	gold quality
testis	UBERON:0000473	94.63	gold quality
sperm	CL:0000019	88.13	gold quality
left ovary	UBERON:0002119	85.53	gold quality
right ovary	UBERON:0002118	83.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.40	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.18	gold quality
cerebellar hemisphere	UBERON:0002245	80.54	gold quality
cerebellar cortex	UBERON:0002129	80.22	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	79.85	gold quality
bronchial epithelial cell	CL:0002328	79.39	gold quality
endocervix	UBERON:0000458	78.95	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.86	gold quality
bronchus	UBERON:0002185	78.06	gold quality
ovary	UBERON:0000992	77.94	gold quality
cerebellum	UBERON:0002037	77.67	gold quality
sural nerve	UBERON:0015488	76.65	gold quality
adrenal tissue	UBERON:0018303	76.37	gold quality
fallopian tube	UBERON:0003889	76.21	gold quality
right adrenal gland cortex	UBERON:0035827	75.99	gold quality
left uterine tube	UBERON:0001303	75.79	gold quality
body of uterus	UBERON:0009853	75.33	gold quality
right lung	UBERON:0002167	75.03	gold quality
right adrenal gland	UBERON:0001233	75.02	gold quality
pancreatic ductal cell	CL:0002079	74.38	silver quality
mucosa of paranasal sinus	UBERON:0005030	74.32	silver quality
adult organism	UBERON:0007023	74.25	gold quality
adenohypophysis	UBERON:0002196	73.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.74

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• sequence analysis of AMAP-1 and identification of AMY-1 as binding protein (PMID:12151104)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mycbpap	ENSDARG00000069194
mus_musculus	Mycbpap	ENSMUSG00000039110
rattus_norvegicus	Mycbpap	ENSRNOG00000042912
drosophila_melanogaster	lqf	FBGN0028582
caenorhabditis_elegans		WBGENE00001329

Paralogs (5): EPN3 (ENSG00000049283), EPN1 (ENSG00000063245), EPN2 (ENSG00000072134), CLINT1 (ENSG00000113282), ENTHD1 (ENSG00000176177)

Protein

Protein identifiers

MYCBP-associated protein — Q8TBZ2 (reviewed: Q8TBZ2)

Alternative names: AMAM-1, AMY-1-binding protein 1

All UniProt accessions (8): C9JXR6, C9JZX1, Q8TBZ2, H0Y7R1, H7C0Z8, K7EJ23, K7EJV4, K7EKR6

UniProt curated annotations — full annotation on UniProt →

Function. Plays a crucial role in centrosome-nuclear envelope docking during spermiogenesis, a key step for anchoring the centrosome to the nucleus that is essential for proper sperm flagellum biogenesis. Also required for acrosome biogenesis, manchette organization, and spermatid head morphogenesis, contributing to the complete and functional assembly of the sperm flagellum.

Subunit / interactions. Interacts with CFAP65, CFAP70, CCP110 and ARMC3. Interacts with MYCBP.

Subcellular location. Membrane. Cytoplasm. Cytoskeleton. Flagellum axoneme. Cell projection. Cilium. Flagellum. Cytoplasmic vesicle. Secretory vesicle. Acrosome Cytoplasm.

Tissue specificity. Expressed specifically in testis.

Miscellaneous. Gene prediction based on conservation.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TBZ2-1	1	yes
Q8TBZ2-2	2

RefSeq proteins (2): NP_001353223, NP_115509* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013783	Ig-like_fold	Homologous_superfamily
IPR032707	MYCBPAP	Family

Pfam: PF14646

UniProt features (17 total): sequence variant 5, region of interest 4, sequence conflict 2, compositionally biased region 2, modified residue 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TBZ2-F1	60.36	0.06

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 613, 619

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 93 (showing top): GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, GOBP_CELL_CELL_SIGNALING, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_CILIUM_ORGANIZATION, GOCC_COATED_VESICLE, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ACROSOME_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOCC_VESICLE_COAT

GO Biological Process (7): acrosome assembly (GO:0001675), endocytosis (GO:0006897), chemical synaptic transmission (GO:0007268), spermatogenesis (GO:0007283), flagellated sperm motility (GO:0030317), sperm flagellum assembly (GO:0120316), cell differentiation (GO:0030154)

GO Molecular Function (3): phospholipid binding (GO:0005543), clathrin binding (GO:0030276), protein binding (GO:0005515)

GO Cellular Component (10): acrosomal vesicle (GO:0001669), cytoplasm (GO:0005737), endosome (GO:0005768), plasma membrane (GO:0005886), clathrin vesicle coat (GO:0030125), sperm flagellum (GO:0036126), synapse (GO:0045202), sperm midpiece (GO:0097225), axonemal central apparatus (GO:1990716), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
developmental process involved in reproduction	3
spermatid development	2
cellular component assembly involved in morphogenesis	1
cellular process involved in reproduction in multicellular organism	1
secretory granule organization	1
organelle assembly	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
anterograde trans-synaptic signaling	1
male gamete generation	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
flagellated sperm motility	1
motile cilium assembly	1
cellular developmental process	1
lipid binding	1
protein binding	1
binding	1
secretory granule	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1
membrane	1
cell periphery	1
clathrin coat	1
vesicle coat	1
clathrin-coated vesicle membrane	1
9+2 motile cilium	1
cell junction	1
sperm flagellum	1
axoneme	1

Protein interactions and networks

STRING

3285 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYCBPAP	MYCBP	Q99417	942
MYCBPAP	AKAP1	Q92667	761
MYCBPAP	DRC10	Q96DY2	571
MYCBPAP	VWA3A	A6NCI4	514
MYCBPAP	CFAP144	A6NL82	498
MYCBPAP	DRC5	Q5JU00	467
MYCBPAP	C1QTNF8	P60827	445
MYCBPAP	ARMC3	Q5W041	443
MYCBPAP	ASRGL1	Q7L266	438
MYCBPAP	CYP39A1	Q9NYL5	432
MYCBPAP	LIN7A	O14910	426
MYCBPAP	RIBC2	Q9H4K1	409
MYCBPAP	SULT2A1	Q06520	403
MYCBPAP	C16orf96	A6NNT2	401
MYCBPAP	FAM194C	Q8ND61	395

IntAct

17 interactions, top by confidence:

A	B	Type	Score
MYCBP	MYCBPAP	psi-mi:“MI:0915”(physical association)	0.620
MYCBPAP	MYCBP	psi-mi:“MI:0915”(physical association)	0.620
MYCBPAP	CHSY3	psi-mi:“MI:0914”(association)	0.530
Dlg4	MYCBPAP	psi-mi:“MI:0407”(direct interaction)	0.440
BIRC2	UMAD1	psi-mi:“MI:0914”(association)	0.350
MYCBPAP	CTSV	psi-mi:“MI:0914”(association)	0.350
MYCBPAP	BEND3	psi-mi:“MI:0914”(association)	0.350
FBF1	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
FBF1	OFD1	psi-mi:“MI:2364”(proximity)	0.270
CANX	NACA	psi-mi:“MI:2364”(proximity)	0.270
MST1R	SHTN1	psi-mi:“MI:2364”(proximity)	0.270
VHL	MYCBPAP	psi-mi:“MI:0915”(physical association)	0.000
CDK19	MYCBPAP	psi-mi:“MI:0915”(physical association)	0.000
CASP4	MYCBPAP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (30): MYCBPAP (Proximity Label-MS), MYCBPAP (Affinity Capture-MS), MYCBPAP (Affinity Capture-MS), MYCBPAP (Proximity Label-MS), MYCBPAP (Affinity Capture-MS), MYCBPAP (Two-hybrid), MYCBP (Affinity Capture-Western), TTC28 (Affinity Capture-MS), CHSY1 (Affinity Capture-MS), CEP97 (Affinity Capture-MS), CHSY3 (Affinity Capture-MS), TGM1 (Affinity Capture-MS), TGM3 (Affinity Capture-MS), SBSN (Affinity Capture-MS), CPA4 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTD5, A0A1B0GUX0, A0A1B0GVH7, A0A3Q1LFK7, A0A3Q1MT14, A2BFC9, A4QMS7, A6NJV1, A6NL82, A8QW39, B0UXH9, B5X5D0, B9EJX3, E1B9R1, F1MMV1, F1P3Y5, Q1JPL0, Q2KI52, Q32KQ1, Q32L72, Q32P67, Q3SZR5, Q4R2Y2, Q5BN45, Q5BN46, Q5NC57, Q5RHU7, Q5SUV2, Q5SVJ3, Q5VZQ5, Q69CM7, Q6AYM0, Q6NXP0, Q6P3G4, Q6ZVS7, Q8CDT5, Q8CDU5, Q8N7U6, Q8N865, Q8ND61

Diamond homologs: Q5SUV2, Q69CM7, Q8TBZ2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CBL	“up-regulates activity”	MYCBPAP	monoubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	132
Likely benign	13
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4178 predictions. Top by Δscore:

Variant	Effect	Δscore
17:50508508:G:GT	donor_gain	1.0000
17:50516565:TTCA:T	acceptor_loss	1.0000
17:50516567:CA:C	acceptor_loss	1.0000
17:50516568:A:AG	acceptor_gain	1.0000
17:50516568:A:AT	acceptor_loss	1.0000
17:50516569:G:GA	acceptor_gain	1.0000
17:50516569:GA:G	acceptor_gain	1.0000
17:50516569:GAA:G	acceptor_gain	1.0000
17:50516569:GAAA:G	acceptor_gain	1.0000
17:50516569:GAAAA:G	acceptor_gain	1.0000
17:50516683:G:GT	donor_gain	1.0000
17:50516694:GGAG:G	donor_gain	1.0000
17:50516695:GAGG:G	donor_gain	1.0000
17:50516695:GAGGT:G	donor_loss	1.0000
17:50516696:AGGT:A	donor_loss	1.0000
17:50516698:GTGAG:G	donor_loss	1.0000
17:50516699:T:G	donor_loss	1.0000
17:50517649:G:GT	donor_gain	1.0000
17:50517649:G:T	donor_gain	1.0000
17:50517660:GATTT:G	donor_gain	1.0000
17:50517694:CCCAG:C	donor_loss	1.0000
17:50517695:CCAG:C	donor_loss	1.0000
17:50517696:CAGG:C	donor_loss	1.0000
17:50517697:AGGTT:A	donor_loss	1.0000
17:50517698:GG:G	donor_loss	1.0000
17:50518712:G:GT	donor_gain	1.0000
17:50518722:GCG:G	donor_gain	1.0000
17:50519039:G:GT	donor_gain	1.0000
17:50519085:GGAAA:G	donor_gain	1.0000
17:50519086:G:GT	donor_gain	1.0000

AlphaMissense

6192 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000079395 (17:50521814 T>C), RS1000169888 (17:50507073 A>G), RS1000289527 (17:50523488 T>C), RS1000390833 (17:50512141 C>G), RS1000626905 (17:50522101 A>G), RS1000900510 (17:50526636 G>A), RS1001235786 (17:50517059 A>T), RS1001447138 (17:50511455 C>T), RS1001636820 (17:50529225 C>T), RS1001808705 (17:50515384 T>A), RS1002114378 (17:50508468 A>C), RS1002199161 (17:50523125 G>A,C), RS1002550152 (17:50513594 TG>T), RS1002724797 (17:50507593 G>T), RS1002791458 (17:50515956 C>G,T)

Disease associations

OMIM: gene MIM:609835 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
spermatogenic failure	Moderate	Autosomal recessive

Mondo (1): spermatogenic failure (MONDO:0004983)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001525_25	Visceral fat	9.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
nutlin 3	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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