CLPSL1

Summary

CLPSL1 (colipase like 1, HGNC:21251) is a protein-coding gene on chromosome 6p21.31, encoding Colipase-like protein 1 (A2RUU4).

Predicted to enable enzyme activator activity. Predicted to be involved in response to food. Predicted to be located in extracellular region.

Source: NCBI Gene 340204 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_001010886

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21251
Approved symbol	CLPSL1
Name	colipase like 1
Location	6p21.31
Locus type	gene with protein product
Status	Approved
Aliases	dJ510O8.6
Ensembl gene	ENSG00000204140
Ensembl biotype	protein_coding
Entrez	340204

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000373861, ENST00000428710

RefSeq mRNA: 1 — MANE Select: NM_001010886 NM_001010886

CCDS: CCDS43456

Canonical transcript exons

ENST00000373861 — 3 exons

Exon	Start	End
ENSE00001461775	35787867	35788150
ENSE00001569343	35781019	35781209
ENSE00001589907	35786998	35787120

Expression profiles

Bgee: expression breadth broad, 76 present calls, max score 93.30.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5123 / max 483.9270, expressed in 6 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67468	0.2991	5
67469	0.2131	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	93.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.40	gold quality
pancreas	UBERON:0001264	78.15	gold quality
Ammon’s horn	UBERON:0001954	66.22	gold quality
anterior cingulate cortex	UBERON:0009835	63.99	gold quality
Brodmann (1909) area 9	UBERON:0013540	56.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	56.26	gold quality
cerebral cortex	UBERON:0000956	55.76	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	54.59	gold quality
prefrontal cortex	UBERON:0000451	52.00	gold quality
frontal cortex	UBERON:0001870	51.72	gold quality
temporal lobe	UBERON:0001871	51.41	gold quality
amygdala	UBERON:0001876	51.30	gold quality
right frontal lobe	UBERON:0002810	51.30	gold quality
islet of Langerhans	UBERON:0000006	50.16	gold quality
superior frontal gyrus	UBERON:0002661	46.69	gold quality
thoracic mammary gland	UBERON:0005200	44.57	gold quality
tonsil	UBERON:0002372	41.07	silver quality
brain	UBERON:0000955	40.66	gold quality
granulocyte	CL:0000094	40.45	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skeletal muscle tissue	UBERON:0001134	36.89	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
sural nerve	UBERON:0015488	36.23	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
muscle tissue	UBERON:0002385	35.09	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	34.29	gold quality
metanephros cortex	UBERON:0010533	33.97	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.70

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (3): CLPS (ENSG00000137392), CLPSL2 (ENSG00000196748), LRCOL1 (ENSG00000204583)

Protein

Protein identifiers

Colipase-like protein 1 — A2RUU4 (reviewed: A2RUU4)

All UniProt accessions (2): A2RUU4, Q5T9G0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Tissue specificity. Exclusively expressed in epididymis, in the corpus region.

Similarity. Belongs to the colipase family.

RefSeq proteins (1): NP_001010886* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001981	Colipase	Family

UniProt features (9 total): disulfide bond 5, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A2RUU4-F1	78.55	0.20

Functional residue map

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

Disulfide bonds (5): 39–50, 45–61, 49–83, 71–91, 85–107

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (showing top): GOBP_DIGESTION, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, GOMF_ENZYME_ACTIVATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, NFKBIA_TARGET_GENES, ZIM3_TARGET_GENES, DESCARTES_MAIN_FETAL_URETERIC_BUD_CELLS, DESCARTES_FETAL_KIDNEY_URETERIC_BUD_CELLS, DESCARTES_FETAL_PANCREAS_ACINAR_CELLS, GOMF_MOLECULAR_FUNCTION_ACTIVATOR_ACTIVITY, chr6p21

GO Biological Process (3): digestion (GO:0007586), lipid catabolic process (GO:0016042), response to food (GO:0032094)

GO Molecular Function (1): enzyme activator activity (GO:0008047)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
multicellular organismal process	1
lipid metabolic process	1
catabolic process	1
response to nutrient levels	1
response to chemical	1
catalytic activity	1
enzyme regulator activity	1
molecular function activator activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

224 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLPSL1	C3orf22	Q8N5N4	578
CLPSL1	C4orf51	C9J302	578
CLPSL1	RNASE12	Q5GAN4	570
CLPSL1	SMIM17	P0DL12	515
CLPSL1	C12orf56	Q8IXR9	512
CLPSL1	SH2D7	A6NKC9	480
CLPSL1	ANKRD62	A6NC57	479
CLPSL1	C1orf167	Q5SNV9	479
CLPSL1	CC2D2B	Q6DHV5	479
CLPSL1	C22orf42	Q6IC83	479
CLPSL1	PATE3	B3GLJ2	478
CLPSL1	SPDYE4	A6NLX3	474
CLPSL1	EPCIP	Q9NYP8	474
CLPSL1	RD3L	P0DJH9	472
CLPSL1	RFPL4B	Q6ZWI9	449

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CLPSL1	TNFAIP1	psi-mi:“MI:0914”(association)	0.530
CLPSL1	LRP5	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): ZYG11B (Affinity Capture-MS), SLC30A5 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ADAM9 (Affinity Capture-MS), NUDT15 (Affinity Capture-MS), NHLRC3 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), TNFAIP1 (Affinity Capture-MS), COL4A2 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), HLA-DPB1 (Affinity Capture-MS), TNFAIP1 (Affinity Capture-MS), SLC30A5 (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZER1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8K1YTU0, A2RUU4, B3EWT5, B6DCW1, B6DCW2, B6DCW4, B6DCW5, B6DCW6, B6DCW7, B6DCW8, B6DCX0, B6DCZ2, B6DCZ8, B6DD06, B6DD07, B6DD08, B6DD09, B6DD10, B6DD11, B6DD12, C8CK75, D2DGD9, D3ZVN1, P0CI88, P0CY68, P0CY69, P0DQE7, P0DRJ1, P25687, P58294, Q14A28, Q2XXR7, Q2XXR8, Q30KJ4, Q5Y4V9, Q6IV20, Q6UDR6, Q75WG5, Q7Z096, Q7Z5A9

Diamond homologs: A0JNQ7, A2RUU4, A9JSD6, P02703, P02704, P02705, P04118, P11148, P11149, P17084, P19090, P42889, P42890, Q91XL7, Q9CQC2, D3ZVN1, Q3UW21, Q8JFY0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

358 predictions. Top by Δscore:

Variant	Effect	Δscore
6:35781208:TGGT:T	donor_loss	0.9900
6:35781209:GGTAA:G	donor_loss	0.9900
6:35781210:G:GC	donor_loss	0.9900
6:35781210:G:GG	donor_gain	0.9900
6:35781211:T:G	donor_loss	0.9900
6:35781212:AA:A	donor_loss	0.9700
6:35781223:A:T	donor_gain	0.9600
6:35786994:GC:G	acceptor_loss	0.9600
6:35786995:CA:C	acceptor_loss	0.9600
6:35786996:A:AC	acceptor_loss	0.9600
6:35787117:GCAG:G	donor_gain	0.9600
6:35786996:A:AG	acceptor_gain	0.9500
6:35786997:G:GG	acceptor_gain	0.9500
6:35787121:G:GC	donor_loss	0.9500
6:35787122:T:A	donor_loss	0.9500
6:35786997:GGA:G	acceptor_gain	0.9400
6:35786996:AG:A	acceptor_gain	0.9200
6:35786997:GG:G	acceptor_gain	0.9200
6:35787119:AGGTG:A	donor_gain	0.8900
6:35786995:CAGG:C	acceptor_gain	0.8800
6:35786996:AGGA:A	acceptor_gain	0.8800
6:35786997:GGAG:G	acceptor_gain	0.8800
6:35786802:CAG:C	acceptor_gain	0.8700
6:35786803:A:T	acceptor_gain	0.8700
6:35787020:GGAAC:G	acceptor_gain	0.8500
6:35786801:TCAG:T	acceptor_gain	0.8400
6:35786804:G:T	acceptor_gain	0.8400
6:35787862:CCCA:C	acceptor_loss	0.8300
6:35787863:CCA:C	acceptor_loss	0.8300
6:35787864:CA:C	acceptor_loss	0.8300

AlphaMissense

791 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:35787963:T:A	C107S	0.955
6:35787964:G:C	C107S	0.955
6:35787883:A:G	Y80C	0.951
6:35787109:T:A	C71S	0.945
6:35787110:G:C	C71S	0.945
6:35787046:T:A	C50S	0.925
6:35787047:G:C	C50S	0.925
6:35787915:T:A	C91S	0.919
6:35787916:G:C	C91S	0.919
6:35787876:G:T	G78C	0.918
6:35787910:T:C	L89P	0.904
6:35787031:T:A	C45S	0.902
6:35787032:G:C	C45S	0.902
6:35787957:G:T	G105C	0.901
6:35787963:T:C	C107R	0.894
6:35787891:T:A	C83S	0.892
6:35787892:G:C	C83S	0.892
6:35787941:G:C	W99C	0.888
6:35787941:G:T	W99C	0.888
6:35787891:T:C	C83R	0.882
6:35787043:T:A	C49S	0.879
6:35787044:G:C	C49S	0.879
6:35787965:T:G	C107W	0.875
6:35787013:T:A	C39S	0.874
6:35787014:G:C	C39S	0.874
6:35787870:T:C	F76L	0.866
6:35787872:C:A	F76L	0.866
6:35787872:C:G	F76L	0.866
6:35787109:T:C	C71R	0.865
6:35787111:T:G	C71W	0.863

dbSNP variants (sampled 300 via entrez): RS1001161004 (6:35791462 A>T), RS1001330937 (6:35791326 A>C), RS1001488096 (6:35786955 A>C,G), RS1001926909 (6:35782858 G>C), RS1002467026 (6:35784734 C>CT), RS1002585946 (6:35779881 G>A), RS1003007531 (6:35789165 C>G,T), RS1003160073 (6:35793252 T>C), RS1003356294 (6:35794437 A>G), RS1003412970 (6:35793380 G>A), RS1003619205 (6:35790269 C>G), RS1003623131 (6:35790399 G>C,T), RS1003728565 (6:35779585 G>A,T), RS1003737331 (6:35779858 G>A), RS1003832175 (6:35785719 C>A,T)

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)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Aflatoxin B1	increases methylation	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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