MARCOL

Summary

MARCOL (MARCO like, HGNC:53644) is a protein-coding gene on chromosome 5q32, encoding MARCO-like protein (A0A1B0GUY1).

Predicted to be located in endoplasmic reticulum lumen.

Source: NCBI Gene 105378220 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001363511

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53644
Approved symbol	MARCOL
Name	MARCO like
Location	5q32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000248109
Ensembl biotype	protein_coding
Entrez	105378220

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000513133, ENST00000637618, ENST00000638059, ENST00000638089

RefSeq mRNA: 1 — MANE Select: NM_001363511 NM_001363511

CCDS: CCDS87333

Canonical transcript exons

ENST00000638089 — 2 exons

Exon	Start	End
ENSE00002026672	148238525	148238646
ENSE00003799862	148242446	148243580

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 53.20.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6313 / max 409.1955, expressed in 35 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
59300	0.1321	17
59298	0.1227	7
59297	0.1077	7
59295	0.0879	7
59303	0.0585	18
59296	0.0347	6
59301	0.0277	16
59302	0.0263	14
59299	0.0125	6
59293	0.0062	1

Top tissues by expression

97 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	53.20	gold quality
corpus callosum	UBERON:0002336	50.89	silver quality
smooth muscle tissue	UBERON:0001135	40.24	silver quality
ganglionic eminence	UBERON:0004023	39.64	silver quality
endocervix	UBERON:0000458	39.13	gold quality
lower esophagus mucosa	UBERON:0035834	38.50	gold quality
prostate gland	UBERON:0002367	37.86	gold quality
muscle tissue	UBERON:0002385	37.30	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skeletal muscle tissue	UBERON:0001134	36.70	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
muscle layer of sigmoid colon	UBERON:0035805	35.85	gold quality
sural nerve	UBERON:0015488	35.33	gold quality
tonsil	UBERON:0002372	34.65	gold quality
liver	UBERON:0002107	34.42	gold quality
myometrium	UBERON:0001296	34.41	gold quality
urinary bladder	UBERON:0001255	33.65	gold quality
primary visual cortex	UBERON:0002436	33.53	gold quality
left uterine tube	UBERON:0001303	33.51	gold quality
calcaneal tendon	UBERON:0003701	33.35	gold quality
superior frontal gyrus	UBERON:0002661	32.95	gold quality
cortex of kidney	UBERON:0001225	32.74	silver quality
left adrenal gland cortex	UBERON:0035825	32.45	gold quality
prefrontal cortex	UBERON:0000451	32.38	gold quality
uterine cervix	UBERON:0000002	32.22	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
ovary	UBERON:0000992	31.79	silver quality
bone marrow	UBERON:0002371	31.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.79

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Marcol	ENSMUSG00000110628
rattus_norvegicus	Gm37797	ENSRNOG00000067712

Protein

Protein identifiers

MARCO-like protein — A0A1B0GUY1 (reviewed: A0A1B0GUY1)

All UniProt accessions (2): A0A1B0GUY1, A0A1B0GTV2

RefSeq proteins (1): NP_001350440* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR050938	Collagen_Structural_Proteins	Family

UniProt features (13 total): compositionally biased region 8, region of interest 2, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUY1-F1	41.77	0.00

Functional residue map

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

Glycosylation sites (1): 24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 11 (showing top): chr5q32, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, CEBPE_TARGET_GENES, EMX1_TARGET_GENES, FEV_TARGET_GENES, NFE2L1_TARGET_GENES, NR1D1_TARGET_GENES, RORA_TARGET_GENES, NKX2_5_TARGET_GENES, DBP_TARGET_GENES, INSM2_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): endoplasmic reticulum lumen (GO:0005788)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endoplasmic reticulum	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MARCOL	MED20	Q9H944	325
MARCOL	MSR1	P21757	299
MARCOL	SCARA5	Q6ZMJ2	271
MARCOL	TSPO	P30536	189
MARCOL	SCARB2	Q14108	172
MARCOL	GNRH1	P01148	151
MARCOL	SCARA3	Q6AZY7	146
MARCOL	COLEC12	Q5KU26	145
MARCOL	UNC79	Q9P2D8	125
MARCOL	MARCO	Q9UEW3	122
MARCOL	RAB14	P35287	121
MARCOL	DPY30	Q9C005	92
MARCOL	RBBP5	Q15291	91
MARCOL	ASH2L	Q9UBL3	91
MARCOL	MED10	Q9BTT4	88

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUY1, A6NJ88, A6QL64, B3KS81, E9Q6E9, O43493, O48582, O77733, P04279, P0C7A4, P0C7A5, P0CV57, P0DKJ7, P10322, P16225, P48997, P48998, Q02383, Q06990, Q08AG5, Q0ZNK1, Q5JPF3, Q5JRC9, Q5SRN2, Q5U7M7, Q5U7M8, Q5U7M9, Q5U7N0, Q5U7N1, Q5U7N3, Q5U7N4, Q5XHX6, Q659K0, Q6AYN3, Q6JHY2, Q6P902, Q6SJ82, Q6X2M3, Q6XPR3, Q80Y39

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

0 predictions. Top by Δscore:

AlphaMissense

1835 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:148238640:T:C	F15L	0.624
5:148238642:C:A	F15L	0.624
5:148238642:C:G	F15L	0.624
5:148242478:T:C	F28L	0.582
5:148242480:C:A	F28L	0.582
5:148242480:C:G	F28L	0.582

dbSNP variants (sampled 300 via entrez): RS1000189209 (5:148242016 C>G), RS1000204680 (5:148238712 G>A,C,T), RS1000342638 (5:148236553 T>G), RS1001040384 (5:148243437 T>C), RS1001661710 (5:148239387 A>G), RS1001917085 (5:148240920 G>A), RS1002381723 (5:148237511 C>G), RS1002437926 (5:148243990 C>T), RS1002530835 (5:148238280 C>T), RS1002581331 (5:148243904 A>G,T), RS1002937471 (5:148238045 G>A), RS1003068061 (5:148240766 G>A), RS10037138 (5:148236810 A>G,T), RS1004151671 (5:148240140 C>T), RS10042764 (5:148238871 C>G,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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sulforaphane	decreases expression	1
licochalcone B	decreases expression	1

Clinical trials (associated diseases)

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