LACTBL1

Summary

LACTBL1 (lactamase beta like 1, HGNC:35445) is a protein-coding gene on chromosome 1p36.12, encoding Beta-lactamase-like protein 1 (A8MY62).

Predicted to be located in membrane.

Source: NCBI Gene 646262 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001289974

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35445
Approved symbol	LACTBL1
Name	lactamase beta like 1
Location	1p36.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000215906
Ensembl biotype	protein_coding
Entrez	646262

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000426928

RefSeq mRNA: 1 — MANE Select: NM_001289974 NM_001289974

CCDS: CCDS90879

Canonical transcript exons

ENST00000426928 — 8 exons

Exon	Start	End
ENSE00001546275	22959942	22960099
ENSE00001546276	22963107	22963216
ENSE00001642788	22955321	22955426
ENSE00001646517	22958685	22958920
ENSE00001702785	22965290	22965425
ENSE00001710850	22953043	22954024
ENSE00003963891	22972305	22972431
ENSE00003963892	22972772	22972866

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 83.33.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0229 / max 9.6127, expressed in 9 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10929	0.0229	9

Top tissues by expression

133 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	83.33	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.30	gold quality
colonic epithelium	UBERON:0000397	40.92	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.58	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	34.91	gold quality
muscle tissue	UBERON:0002385	32.18	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
monocyte	CL:0000576	31.39	gold quality
leukocyte	CL:0000738	31.05	gold quality
right testis	UBERON:0004534	31.04	silver quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
left testis	UBERON:0004533	29.58	silver quality
testis	UBERON:0000473	29.56	silver quality
vermiform appendix	UBERON:0001154	29.34	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
right uterine tube	UBERON:0001302	28.96	gold quality
urinary bladder	UBERON:0001255	28.55	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.91	gold quality
blood	UBERON:0000178	26.11	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	lactbl1b	ENSDARG00000070467
mus_musculus	Lactbl1	ENSMUSG00000070683
rattus_norvegicus	Lactbl1	ENSRNOG00000088766

Paralogs (1): LACTB (ENSG00000103642)

Protein

Protein identifiers

Beta-lactamase-like protein 1 — A8MY62 (reviewed: A8MY62)

All UniProt accessions (1): H0Y608

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the beta-lactamase family.

RefSeq proteins (1): NP_001276903* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001466	Beta-lactam-related	Domain
IPR012338	Beta-lactam/transpept-like	Homologous_superfamily
IPR051478

Pfam: PF00144

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MY62-F1	92.58	0.77

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 21 (showing top): chr1p36, DESCARTES_MAIN_FETAL_BIPOLAR_CELLS, DESCARTES_FETAL_EYE_BIPOLAR_CELLS, GSE20366_TREG_VS_NAIVE_CD4_TCELL_DN, GSE12505_WT_VS_E2_2_HET_PDC_DN, GSE2197_CPG_DNA_VS_UNTREATED_IN_DC_UP, GSE24102_GRANULOCYSTIC_MDSC_VS_NEUTROPHIL_UP, GSE26669_CD4_VS_CD8_TCELL_IN_MLR_COSTIM_BLOCK_UP, GSE7460_CTRL_VS_TGFB_TREATED_ACT_CD8_TCELL_DN, GSE2585_AIRE_KO_VS_WT_CD80_HIGH_MTEC_UP, GSE6875_TCONV_VS_FOXP3_KO_TREG_UP, GSE21670_UNTREATED_VS_TGFB_TREATED_CD4_TCELL_UP, GSE21670_IL6_VS_TGFB_AND_IL6_TREATED_CD4_TCELL_DN, GSE16385_IFNG_TNF_VS_IL4_STIM_MACROPHAGE_UP, GSE25123_CTRL_VS_ROSIGLITAZONE_STIM_PPARG_KO_MACROPHAGE_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LACTBL1	CHST7	Q9NS84	561
LACTBL1	SNRPB2	P08579	531
LACTBL1	KLHL24	Q6TFL4	491
LACTBL1	TMEM154	Q6P9G4	480
LACTBL1	RS1	O15537	472
LACTBL1	NME5	P56597	462
LACTBL1	LEMD3	Q9Y2U8	438
LACTBL1	SSBP3	Q9BWW4	432
LACTBL1	PLA2G4D	Q86XP0	407
LACTBL1	PLA2G4E	Q3MJ16	403
LACTBL1	ACOT11	Q8WXI4	400
LACTBL1	FAM53B	Q14153	370
LACTBL1	PLCB4	Q15147	342
LACTBL1	SULF2	Q8IWU5	292
LACTBL1	CYP11B2	P19099	251

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A6NE02, A8MY62, C9JR72, D3Z7H8, D3ZU57, O09017, O15197, O19179, O95382, P0C0K6, P10588, P43136, P55203, Q02846, Q08DG4, Q15628, Q2KHV9, Q3U0S6, Q3UH93, Q5BK61, Q5U651, Q5W7P8, Q5ZMM1, Q6ZNJ1, Q6ZQA0, Q6ZVZ8, Q80ZD5, Q86WK7, Q8BH02, Q8BH83, Q8C828, Q8CIG9, Q8IUL8, Q8IYS2, Q8JGM4, Q8K2J9, Q8N239, Q8VHA6, Q91X21, Q96CD0

Diamond homologs: A0A3B1EFQ0, A8MY62, P0CU81, P32959, Q9KX40, Q54VJ1, P0AD70, P0AD71, Q54SB5, Q54SB6, Q7KWX1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1235 predictions. Top by Δscore:

Variant	Effect	Δscore
1:22955315:CCTCA:C	donor_loss	1.0000
1:22955317:TCAC:T	donor_loss	1.0000
1:22955318:CA:C	donor_loss	1.0000
1:22955319:ACC:A	donor_loss	1.0000
1:22955320:C:CA	donor_loss	1.0000
1:22955425:CC:C	acceptor_gain	1.0000
1:22955426:CC:C	acceptor_gain	1.0000
1:22955426:CCTAG:C	acceptor_loss	1.0000
1:22955427:C:CC	acceptor_gain	1.0000
1:22955427:CTAGG:C	acceptor_loss	1.0000
1:22958680:CTCA:C	donor_loss	1.0000
1:22958681:TCACC:T	donor_loss	1.0000
1:22958683:A:AT	donor_loss	1.0000
1:22958684:C:CG	donor_loss	1.0000
1:22958916:AGATC:A	acceptor_gain	1.0000
1:22958917:GATC:G	acceptor_gain	1.0000
1:22958918:ATC:A	acceptor_gain	1.0000
1:22958919:TC:T	acceptor_gain	1.0000
1:22958920:CC:C	acceptor_gain	1.0000
1:22958921:C:CC	acceptor_gain	1.0000
1:22958925:A:AC	acceptor_gain	1.0000
1:22958925:A:C	acceptor_gain	1.0000
1:22958928:A:AC	acceptor_gain	1.0000
1:22958928:A:C	acceptor_gain	1.0000
1:22958931:T:C	acceptor_gain	1.0000
1:22958931:T:TC	acceptor_gain	1.0000
1:22960097:CACCT:C	acceptor_gain	1.0000
1:22960101:T:C	acceptor_gain	1.0000
1:22962996:A:C	acceptor_gain	1.0000
1:22954580:T:TA	donor_gain	0.9900

AlphaMissense

3661 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:22954012:G:C	S179R	0.997
1:22954012:G:T	S179R	0.997
1:22954014:T:G	S179R	0.997
1:22953785:G:T	S255Y	0.994
1:22953113:A:G	F479S	0.993
1:22954013:C:A	S179I	0.993
1:22953598:C:A	K317N	0.992
1:22953598:C:G	K317N	0.992
1:22953639:A:G	W304R	0.992
1:22953639:A:T	W304R	0.992
1:22953813:A:G	W246R	0.992
1:22953813:A:T	W246R	0.992
1:22958695:G:C	S136R	0.992
1:22958695:G:T	S136R	0.992
1:22958697:T:G	S136R	0.992
1:22953785:G:A	S255F	0.991
1:22953995:A:G	L185P	0.991
1:22953786:A:G	S255P	0.990
1:22954023:A:G	C176R	0.990
1:22953112:G:C	F479L	0.988
1:22953112:G:T	F479L	0.988
1:22953114:A:G	F479L	0.988
1:22953564:A:G	S329P	0.988
1:22953811:C:A	W246C	0.988
1:22953811:C:G	W246C	0.988
1:22954022:C:G	C176S	0.988
1:22954023:A:T	C176S	0.988
1:22953242:A:G	F436S	0.987
1:22958906:G:A	S82F	0.987
1:22958906:G:T	S82Y	0.987

dbSNP variants (sampled 300 via entrez): RS1000174599 (1:22971744 C>T), RS1000222357 (1:22972455 A>C), RS1000253273 (1:22957290 T>C), RS1000271883 (1:22962365 C>A), RS1000464006 (1:22968687 T>C), RS1000602841 (1:22968781 G>A), RS1000607498 (1:22963606 A>T), RS1000648478 (1:22963854 T>C), RS1000771856 (1:22969964 T>C), RS1000836042 (1:22968314 G>C), RS1000902036 (1:22956025 C>T), RS1001182316 (1:22954674 C>G), RS1001309981 (1:22961099 C>T), RS1001613840 (1:22954966 A>G), RS1001871967 (1:22967383 T>C)

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

13 associations (top):

Study	Trait	p-value
GCST008152_110	Weight	4.000000e-06
GCST010696_9	Cortical thickness (min-P)	3.000000e-08
GCST010697_34	Cortical surface area (min-P)	5.000000e-08
GCST010698_71	Subcortical volume (min-P)	4.000000e-14
GCST010699_32	Brain morphology (min-P)	6.000000e-09
GCST010700_65	Cortical thickness (MOSTest)	3.000000e-09
GCST010701_93	Cortical surface area (MOSTest)	2.000000e-13
GCST010702_34	Subcortical volume (MOSTest)	1.000000e-10
GCST010703_189	Brain morphology (MOSTest)	7.000000e-11
GCST010988_523	Adult body size	8.000000e-12
GCST90002392_152	Mean corpuscular volume	4.000000e-09
GCST90002397_174	Mean spheric corpuscular volume	3.000000e-09
GCST90020028_568	Hip circumference adjusted for BMI	3.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004338	body weight
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0008039	BMI-adjusted hip circumference

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.