MTCP1

Summary

MTCP1 (mature T cell proliferation 1, HGNC:7423) is a protein-coding gene on chromosome Xq28, encoding Protein p13 MTCP-1 (P56278). Enhances the phosphorylation and activation of AKT1 and AKT2.

This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5’ exon spliced to two different sets of 3’ exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis.

Source: NCBI Gene 4515 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 4 total — 1 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_001018025

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7423
Approved symbol	MTCP1
Name	mature T cell proliferation 1
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	P13MTCP1, p8MTCP1, TCL1C
Ensembl gene	ENSG00000214827
Ensembl biotype	protein_coding
OMIM	300116
Entrez	4515

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000362018, ENST00000369476, ENST00000476116, ENST00000482244, ENST00000868540, ENST00000868541

RefSeq mRNA: 1 — MANE Select: NM_001018025 NM_001018025

CCDS: CCDS44027

Canonical transcript exons

ENST00000369476 — 5 exons

Exon	Start	End
ENSE00001450119	155064034	155065399
ENSE00001622983	155065906	155066057
ENSE00001746500	155070694	155071136
ENSE00003652370	155065619	155065789
ENSE00003652880	155065486	155065537

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 91.00.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0211 / max 6.6753, expressed in 8 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
201078	17.7624	1796
201079	1.9939	1255
201077	0.0873	23
201081	0.0211	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.00	gold quality
adrenal tissue	UBERON:0018303	75.39	gold quality
body of pancreas	UBERON:0001150	74.83	gold quality
right testis	UBERON:0004534	73.37	gold quality
right adrenal gland	UBERON:0001233	73.11	gold quality
left testis	UBERON:0004533	72.74	gold quality
left adrenal gland cortex	UBERON:0035825	72.65	gold quality
lower esophagus muscularis layer	UBERON:0035833	72.62	gold quality
left adrenal gland	UBERON:0001234	72.60	gold quality
lower esophagus	UBERON:0013473	72.60	gold quality
right adrenal gland cortex	UBERON:0035827	72.59	gold quality
left ovary	UBERON:0002119	72.41	gold quality
left ventricle myocardium	UBERON:0006566	72.22	gold quality
right ovary	UBERON:0002118	72.13	gold quality
mucosa of stomach	UBERON:0001199	71.67	gold quality
pancreas	UBERON:0001264	71.65	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	71.60	gold quality
cardiac muscle of right atrium	UBERON:0003379	71.45	gold quality
right lobe of liver	UBERON:0001114	71.10	gold quality
body of stomach	UBERON:0001161	71.07	gold quality
stromal cell of endometrium	CL:0002255	70.94	gold quality
testis	UBERON:0000473	70.94	gold quality
descending thoracic aorta	UBERON:0002345	70.64	gold quality
adrenal gland	UBERON:0002369	70.53	gold quality
left uterine tube	UBERON:0001303	70.51	gold quality
right atrium auricular region	UBERON:0006631	70.48	gold quality
adrenal cortex	UBERON:0001235	70.39	gold quality
lower esophagus mucosa	UBERON:0035834	70.37	gold quality
transverse colon	UBERON:0001157	70.36	gold quality
buccal mucosa cell	CL:0002336	70.28	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

121 targeting MTCP1, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 2)

• Transgenic mice overexpressing MTCP1 develop leukemias with a CD8 central memory phenotype in most cases. (PMID:17136114)
• Rare t(X;14)(q28;q32) translocation reveals link between MTCP1 and chronic lymphocytic leukemia. (PMID:34732719)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mtcp1	ENSMUSG00000031200
rattus_norvegicus	Cmc4	ENSRNOG00000056435

Paralogs (2): TCL1A (ENSG00000100721), TCL1B (ENSG00000213231)

Protein

Protein identifiers

Protein p13 MTCP-1 — P56278 (reviewed: P56278)

Alternative names: Mature T-cell proliferation-1 type B1

All UniProt accessions (1): P56278

UniProt curated annotations — full annotation on UniProt →

Function. Enhances the phosphorylation and activation of AKT1 and AKT2.

Subunit / interactions. Interacts with AKT1 and AKT2 (via PH domain). Does not interact with AKT3.

Tissue specificity. Not found at a significant level in any tissue.

Disease relevance. Detected in T-cell leukemia bearing a t(X;14) translocation. Plays a key role in T-cell prolymphocytic leukemia.

Miscellaneous. Shares a non-coding 5’ exon with isoform 1 which is spliced to a different set of 3’ exons encoding an unrelated protein.

Similarity. Belongs to the TCL1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P56278-1	2, Long, Type B1, p13 MTCP1	yes
P56277-1	1, Short, Type A, p8 MTCP1

RefSeq proteins (1): NP_001018025* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004832	TCL1_MTCP1	Family
IPR036672	TCL1_MTCP1_sf	Homologous_superfamily

Pfam: PF01840

UniProt features (11 total): strand 8, chain 1, helix 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1A1X	X-RAY DIFFRACTION	2
1QTT	SOLUTION NMR
1QTU	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56278-F1	87.01	0.53

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 115 (showing top): MORF_MTA1, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, MORF_HDAC2, PUJANA_CHEK2_PCC_NETWORK, GOMF_KINASE_ACTIVATOR_ACTIVITY, CCTGTGA_MIR513, BROWNE_HCMV_INFECTION_14HR_DN, MORF_BUB3, MORF_RFC4, MORF_PRKDC, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, HASLINGER_B_CLL_WITH_CHROMOSOME_12_TRISOMY, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, GOMF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVATOR_ACTIVITY

GO Biological Process (1): intracellular signal transduction (GO:0035556)

GO Molecular Function (2): protein kinase binding (GO:0019901), protein serine/threonine kinase activator activity (GO:0043539)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	1
signal transduction	1
kinase binding	1
protein serine/threonine kinase activity	1
protein kinase activator activity	1

Protein interactions and networks

STRING

156 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTCP1	CPOX	P36551	703
MTCP1	CHCHD7	Q9BUK0	644
MTCP1	FECH	P22830	555
MTCP1	ISCU	Q9H1K1	549
MTCP1	FXN	Q16595	547
MTCP1	MAPK13	O15264	493
MTCP1	MAPK12	P53778	491
MTCP1	ACO2	Q99798	490
MTCP1	AKT1	P31749	438
MTCP1	MAPK11	Q15759	435
MTCP1	F5H3C5	F5H3C5	411
MTCP1	SOD2	P04179	411
MTCP1	CMC4	P56277	410
MTCP1	SREBF1	P36956	381
MTCP1	ATP5MG	O75964	345

IntAct

0 interactions, top by confidence:

BioGRID (7): MTCP1 (Two-hybrid), AKT1 (Affinity Capture-Western), MTCP1 (Two-hybrid), MTCP1 (Affinity Capture-Western), MTCP1 (Affinity Capture-RNA), MTCP1 (Affinity Capture-RNA), APP (Reconstituted Complex)

ESM2 similar proteins: A1XFV8, A7Y3E0, O12160, O41804, O70337, O70897, O70903, O89942, O91087, P04597, P04598, P04599, P05928, P05950, P05955, P0C1K5, P0C1K6, P0C1L9, P12519, P12520, P17284, P18805, P19555, P23428, P23429, P24737, P56278, P56279, P56280, P56840, P56841, P56844, P59636, P69725, P69726, P69727, P69728, Q1A248, Q25330, Q60945

Diamond homologs: O95988, P56278, P56280, Q60945, P56279

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
MTCP1	up-regulates	AKT	binding
MTCP1	up-regulates	AKT1	binding
MTCP1	up-regulates	AKT2	binding
MTCP1	up-regulates	AKT3	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
816415	GRCh37/hg19 Xq28(chrX:154112019-154625699)x2	Pathogenic
564942	GRCh37/hg19 Xq28(chrX:154110363-154417230)x2	Likely pathogenic
816417	GRCh37/hg19 Xq28(chrX:154252722-154343784)x0	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

700 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:155065690:A:G	W69R	0.994
X:155065690:A:T	W69R	0.994
X:155065688:C:A	W69C	0.993
X:155065688:C:G	W69C	0.993
X:155065640:C:A	W85C	0.992
X:155065640:C:G	W85C	0.992
X:155065642:A:G	W85R	0.991
X:155065642:A:T	W85R	0.991
X:155065926:A:G	W29R	0.990
X:155065926:A:T	W29R	0.990
X:155065943:T:A	D23V	0.990
X:155065950:A:C	Y21D	0.989
X:155065689:C:G	W69S	0.988
X:155065924:C:A	W29C	0.987
X:155065924:C:G	W29C	0.987
X:155065512:A:T	L101H	0.985
X:155065764:A:T	V44D	0.985
X:155065641:C:G	W85S	0.984
X:155065944:C:G	D23H	0.984
X:155065512:A:G	L101P	0.982
X:155065518:A:G	L99P	0.982
X:155065659:T:A	D79V	0.982
X:155065666:A:G	Y77H	0.982
X:155065942:G:C	D23E	0.982
X:155065942:G:T	D23E	0.982
X:155065665:T:G	Y77S	0.981
X:155065666:A:C	Y77D	0.981
X:155065950:A:T	Y21N	0.979
X:155065973:A:G	L13P	0.978
X:155065973:A:T	L13H	0.977

dbSNP variants (sampled 300 via entrez): RS1000285506 (X:155070923 A>G), RS1003621099 (X:155064347 G>T), RS1003913027 (X:155064867 A>C), RS1004271514 (X:155065139 T>C), RS1005496711 (X:155072163 A>C), RS1008812549 (X:155066925 A>G), RS1008842176 (X:155066257 T>C), RS1009200289 (X:155067052 C>T), RS1009503000 (X:155067638 T>C), RS1010516727 (X:155070832 G>A,T), RS1010880059 (X:155063840 A>G), RS1011182782 (X:155064287 T>C), RS1013283451 (X:155069017 T>C), RS1014313603 (X:155071745 C>T), RS1014691787 (X:155065178 T>C)

Disease associations

OMIM: gene MIM:300116 | 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)

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
pirinixic acid	increases activity, increases expression, affects binding	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Coumestrol	increases expression, affects cotreatment	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Plant Extracts	affects cotreatment, increases expression	1
Valproic Acid	decreases methylation	1
Vincristine	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1
Chlorodiphenyl (54% Chlorine)	decreases expression	1

Clinical trials (associated diseases)

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