TCP11X1

Summary

TCP11X1 (t-complex 11 family, X-linked 1, HGNC:48369) is a protein-coding gene on chromosome Xq22.1, encoding T-complex protein 11-like X-linked protein 1 (B4DZS4).

Predicted to be involved in protein kinase A signaling and regulation of sperm capacitation. Predicted to be active in acrosomal vesicle and sperm flagellum.

Source: NCBI Gene 100996631 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001405026

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:48369
Approved symbol	TCP11X1
Name	t-complex 11 family, X-linked 1
Location	Xq22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000268235
Ensembl biotype	protein_coding
Entrez	100996631

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 nonsense_mediated_decay, 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000597070, ENST00000622971, ENST00000623912, ENST00000696787, ENST00000696788

RefSeq mRNA: 2 — MANE Select: NM_001405026 NM_001368158, NM_001405026

Canonical transcript exons

ENST00000622971 — 10 exons

Exon	Start	End
ENSE00003755728	102226365	102226795
ENSE00003815219	102225027	102225190
ENSE00003816018	102222395	102222615
ENSE00003822045	102223765	102223985
ENSE00003824302	102224084	102224265
ENSE00003826236	102223382	102223518
ENSE00003968351	102217978	102218080
ENSE00003968352	102221541	102221661
ENSE00003968355	102215301	102215340
ENSE00003968357	102215828	102215965

Expression profiles

Bgee: expression breadth broad, 21 present calls, max score 61.74.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	61.74	gold quality
ganglionic eminence	UBERON:0004023	43.97	gold quality
ventricular zone	UBERON:0003053	43.84	silver quality
adenohypophysis	UBERON:0002196	39.59	gold quality
pituitary gland	UBERON:0000007	38.57	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
islet of Langerhans	UBERON:0000006	35.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	34.94	gold quality
mucosa of transverse colon	UBERON:0004991	34.83	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
pancreas	UBERON:0001264	30.62	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
vermiform appendix	UBERON:0001154	29.13	gold quality
monocyte	CL:0000576	28.74	gold quality
leukocyte	CL:0000738	28.64	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
primary visual cortex	UBERON:0002436	27.70	gold quality
lymph node	UBERON:0000029	27.57	gold quality
fallopian tube	UBERON:0003889	27.19	gold quality
tonsil	UBERON:0002372	27.05	gold quality
right coronary artery	UBERON:0001625	26.74	gold quality
blood	UBERON:0000178	26.11	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
placenta	UBERON:0001987	25.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.19

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tcp11x2	ENSMUSG00000058252
rattus_norvegicus	Tcp11x2	ENSRNOG00000011034
drosophila_melanogaster	CG16721	FBGN0029820
caenorhabditis_elegans		WBGENE00010875

Paralogs (4): TCP11 (ENSG00000124678), TCP11L2 (ENSG00000166046), TCP11L1 (ENSG00000176148), TCP11X2 (ENSG00000215029)

Protein

Protein identifiers

T-complex protein 11-like X-linked protein 1 — B4DZS4 (reviewed: B4DZS4)

All UniProt accessions (2): B4DZS4, A0A2R8Y3D8

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. Probable target of nonsense-mediated mRNA decay.

Similarity. Belongs to the TCP11 family.

Isoforms (2)

UniProt ID	Names	Canonical?
B4DZS4-1	1	yes
B4DZS4-2	2

RefSeq proteins (2): NP_001355087, NP_001391955* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008862	Tcp11	Family

Pfam: PF05794

UniProt features (5 total): splice variant 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B4DZS4-F1	81.47	0.52

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 23 (showing top): GOBP_REGULATION_OF_CELL_MATURATION, GOCC_SECRETORY_GRANULE, GOBP_MALE_GAMETE_GENERATION, GOBP_SPERM_CAPACITATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_REGULATION_OF_CELL_DEVELOPMENT, GOCC_SECRETORY_VESICLE, GOCC_MOTILE_CILIUM, GOCC_ACROSOMAL_VESICLE, GOCC_CILIUM, chrXq22

GO Biological Process (2): obsolete protein kinase A signaling (GO:0010737), regulation of sperm capacitation (GO:1902490)

GO Molecular Function (0):

GO Cellular Component (2): acrosomal vesicle (GO:0001669), sperm flagellum (GO:0036126)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sperm capacitation	1
regulation of multicellular organismal process	1
regulation of cell maturation	1
regulation of reproductive process	1
secretory granule	1
9+2 motile cilium	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A2AV37, A2BID5, A2VDR8, A7E2Y6, A7Z033, B4DZS4, O15068, O35821, O60645, O70576, O94812, P52630, P83436, Q01755, Q03169, Q08CY4, Q0P4Q0, Q0V8C2, Q14746, Q15021, Q17RC7, Q19262, Q1LXZ7, Q2TBH9, Q3T1G7, Q3TBD2, Q3UM29, Q5H9J9, Q5XI00, Q61333, Q62825, Q63406, Q64096, Q6DIA2, Q6GPP1, Q6KAR6, Q7T006, Q80TT2, Q80VA5, Q8K1H7

Diamond homologs: A7Z033, B4DZS4, Q01755, Q568Z0, Q5H9J9, Q5XI00, Q8BTG3, Q8K1H7, Q8N4U5, Q8WWU5, Q9NUJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

3315 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS112193525 (X:102225590 C>T), RS112266603 (X:102214278 T>G), RS1157493556 (X:102220638 C>A,T), RS1159296465 (X:102220701 T>A), RS1160918875 (X:102220243 T>C,G), RS1162783415 (X:102220695 A>G,T), RS1165893906 (X:102220148 G>A,T), RS1167755106 (X:102223655 C>A), RS1170178626 (X:102219726 G>A), RS1170964419 (X:102219483 A>T), RS1174450435 (X:102220863 ATTG>A), RS1174478464 (X:102221011 T>C), RS1176238420 (X:102220670 CATATATATATAT>C,CATATATAT,CATATATATAT,CATATATATATATAT,CATATATATATATATAT,CATATATATATATATATAT,CATATATATATATATATATAT,CATATATATATATATATATATAT,CATATATATATATATATATATATAT,CATATATATATATATATATATATATAT,CATATATATATATATATATATATATATAT,CATATATATATATATATATATATATATATAT,CATATATATATATATATATATATATATATATAT,CATATATATATATATATATATATATATATATATAT,CATATATATATATATATATATATATATATATATATAT,CATATATATATATATATATATATATATATATATATATAT,CATATATATATATATATATATATATATATATATATATATATAT), RS1177534456 (X:102220335 C>T), RS1179399956 (X:102220695 ATTTTTTTTTTT>A,ATTTT,ATTTTTT,ATTTTTTT,ATTTTTTTT,ATTTTTTTTT,ATTTTTTTTTT,ATTTTTTTTTTTT,ATTTTTTTTTTTTT,ATTTTTTTTTTTTTT,ATTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTTTTTTTTTTTTTT)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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