Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4481
Gene name	Macrophage scavenger receptor 1
Gene symbol	MSR1
Synonyms (NCBI Gene)	CD204SCARA1SR-ASR-AISR-AIISR-AIIISRAphSR1phSR2
Chromosome	8
Chromosome location	8p22
Summary	This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and ha

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41341748	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, stop gained, missense variant
rs387906645	G>C	Pathogenic	Coding sequence variant, missense variant
rs772978107	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1554466908	C>G	Pathogenic	Splice donor variant

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT723021	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT723020	hsa-miR-1249-3p	HITS-CLIP	19536157
MIRT723019	hsa-miR-9-5p	HITS-CLIP	19536157
MIRT723018	hsa-miR-323b-5p	HITS-CLIP	19536157
MIRT723017	hsa-miR-410-5p	HITS-CLIP	19536157
MIRT723016	hsa-miR-494-5p	HITS-CLIP	19536157
MIRT723015	hsa-miR-659-3p	HITS-CLIP	19536157
MIRT723021	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT723020	hsa-miR-1249-3p	HITS-CLIP	19536157
MIRT723019	hsa-miR-9-5p	HITS-CLIP	19536157
MIRT723018	hsa-miR-323b-5p	HITS-CLIP	19536157
MIRT723017	hsa-miR-410-5p	HITS-CLIP	19536157
MIRT723016	hsa-miR-494-5p	HITS-CLIP	19536157
MIRT723015	hsa-miR-659-3p	HITS-CLIP	19536157
MIRT1161779	hsa-miR-1265	CLIP-seq
MIRT1161780	hsa-miR-1273f	CLIP-seq
MIRT1161781	hsa-miR-143	CLIP-seq
MIRT1161782	hsa-miR-185	CLIP-seq
MIRT1161783	hsa-miR-2467-3p	CLIP-seq
MIRT1161784	hsa-miR-2964a-5p	CLIP-seq
MIRT1161785	hsa-miR-3165	CLIP-seq
MIRT1161786	hsa-miR-3175	CLIP-seq
MIRT1161787	hsa-miR-3605-5p	CLIP-seq
MIRT1161788	hsa-miR-4258	CLIP-seq
MIRT1161789	hsa-miR-4306	CLIP-seq
MIRT1161790	hsa-miR-433	CLIP-seq
MIRT1161791	hsa-miR-4449	CLIP-seq
MIRT1161792	hsa-miR-4512	CLIP-seq
MIRT1161793	hsa-miR-4644	CLIP-seq
MIRT1161794	hsa-miR-4698	CLIP-seq
MIRT1161795	hsa-miR-4708-5p	CLIP-seq
MIRT1161796	hsa-miR-4770	CLIP-seq
MIRT1161797	hsa-miR-630	CLIP-seq
MIRT1161798	hsa-miR-1270	CLIP-seq
MIRT1161799	hsa-miR-147	CLIP-seq
MIRT1161800	hsa-miR-338-5p	CLIP-seq
MIRT1161801	hsa-miR-3691-5p	CLIP-seq
MIRT1161802	hsa-miR-3911	CLIP-seq
MIRT1161803	hsa-miR-4531	CLIP-seq
MIRT1161804	hsa-miR-4683	CLIP-seq
MIRT1161805	hsa-miR-4752	CLIP-seq
MIRT1161806	hsa-miR-620	CLIP-seq
MIRT1161807	hsa-miR-644	CLIP-seq
MIRT2046411	hsa-miR-3613-3p	CLIP-seq
MIRT2275492	hsa-miR-1206	CLIP-seq
MIRT1161779	hsa-miR-1265	CLIP-seq
MIRT2275493	hsa-miR-1273e	CLIP-seq
MIRT1161780	hsa-miR-1273f	CLIP-seq
MIRT1161781	hsa-miR-143	CLIP-seq
MIRT2275494	hsa-miR-2054	CLIP-seq
MIRT1161783	hsa-miR-2467-3p	CLIP-seq
MIRT1161784	hsa-miR-2964a-5p	CLIP-seq
MIRT2275495	hsa-miR-302f	CLIP-seq
MIRT1161787	hsa-miR-3605-5p	CLIP-seq
MIRT2275496	hsa-miR-3618	CLIP-seq
MIRT1161791	hsa-miR-4449	CLIP-seq
MIRT1161795	hsa-miR-4708-5p	CLIP-seq
MIRT1161796	hsa-miR-4770	CLIP-seq
MIRT2275497	hsa-miR-579	CLIP-seq
MIRT2275498	hsa-miR-934	CLIP-seq
MIRT1161779	hsa-miR-1265	CLIP-seq
MIRT1161780	hsa-miR-1273f	CLIP-seq
MIRT1161781	hsa-miR-143	CLIP-seq
MIRT1161783	hsa-miR-2467-3p	CLIP-seq
MIRT1161784	hsa-miR-2964a-5p	CLIP-seq
MIRT1161787	hsa-miR-3605-5p	CLIP-seq
MIRT1161791	hsa-miR-4449	CLIP-seq
MIRT1161795	hsa-miR-4708-5p	CLIP-seq
MIRT1161796	hsa-miR-4770	CLIP-seq
MIRT2438811	hsa-miR-3908	CLIP-seq
MIRT2438812	hsa-miR-545	CLIP-seq
MIRT2438811	hsa-miR-3908	CLIP-seq
MIRT2438812	hsa-miR-545	CLIP-seq
MIRT2574509	hsa-miR-4481	CLIP-seq
MIRT2574510	hsa-miR-4663	CLIP-seq
MIRT2574511	hsa-miR-4728-3p	CLIP-seq
MIRT2574512	hsa-miR-4745-5p	CLIP-seq
MIRT2574513	hsa-miR-548c-3p	CLIP-seq

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Transcription factor	Regulation	Reference
CEBPA	Unknown	9743233
ETS2	Activation	8114743
JUN	Activation	8114743
JUN	Unknown	9743233
SPI1	Unknown	7777517

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IBA
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0005044	Function	Scavenger receptor activity	IEA
GO:0005044	Function	Scavenger receptor activity	TAS	2251254, 11240025
GO:0005515	Function	Protein binding	IPI	17237231, 25416956, 25965346, 31515488, 32296183
GO:0005581	Component	Collagen trimer	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8093617
GO:0006897	Process	Endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006898	Process	Receptor-mediated endocytosis	NAS	2251254
GO:0006898	Process	Receptor-mediated endocytosis	TAS	2251254
GO:0006911	Process	Phagocytosis, engulfment	IEA
GO:0006911	Process	Phagocytosis, engulfment	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IEA
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	ISS	12376530
GO:0010886	Process	Positive regulation of cholesterol storage	IBA
GO:0010886	Process	Positive regulation of cholesterol storage	IEA
GO:0010886	Process	Positive regulation of cholesterol storage	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	2251254
GO:0030169	Function	Low-density lipoprotein particle binding	IBA
GO:0030169	Function	Low-density lipoprotein particle binding	IEA
GO:0030169	Function	Low-density lipoprotein particle binding	ISS	12376530
GO:0030301	Process	Cholesterol transport	IEA
GO:0030301	Process	Cholesterol transport	ISS	12376530
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0034362	Component	Low-density lipoprotein particle	IEA
GO:0034381	Process	Plasma lipoprotein particle clearance	IBA
GO:0034381	Process	Plasma lipoprotein particle clearance	IEA
GO:0034381	Process	Plasma lipoprotein particle clearance	ISS	12376530
GO:0038024	Function	Cargo receptor activity	IEA
GO:0038024	Function	Cargo receptor activity	ISS
GO:0042953	Process	Lipoprotein transport	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0097242	Process	Amyloid-beta clearance	IBA
GO:0097242	Process	Amyloid-beta clearance	IEA
GO:0097242	Process	Amyloid-beta clearance	ISS

MIM	HGNC	e!Ensembl
153622	7376	ENSG00000038945

P21757

Protein name

Macrophage scavenger receptor types I and II (Macrophage acetylated LDL receptor I and II) (Scavenger receptor class A member 1) (CD antigen CD204)

Protein function

Membrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis. Two types of receptor subunits exist. These receptors mediate the endocytosis of a diverse group of macromolecules, including m

PDB

7DPX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03523	Macscav_rec	121 → 169	Macrophage scavenger receptor	Family
PF01391	Collagen	271 → 335	Collagen triple helix repeat (20 copies)	Repeat
PF00530	SRCR	353 → 450	Scavenger receptor cysteine-rich domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform I, isoform II and isoform III are expressed in monocyte-derived macrophages. Isoform I and isoform II are expressed in the liver, placenta and brain. {ECO:0000269|PubMed:2251254, ECO:0000269|PubMed:9548586}.

Sequence

MEQWDHFHNQQEDTDSCSESVKFDARSMTALLPPNPKNSPSLQEKLKSFKAALIALYLLV
FAVLIPLIGIVAAQLLKWETKNCSVSSTNANDITQSLTGKGNDSEEEMRFQEVFMEHMSN
MEKRIQHILDMEANLMDTEHFQNFSMTTDQRFNDILLQLSTLFSSVQGHGNAIDEISKSL
ISLNTTLLDLQLNIENLNGKIQENTFKQQEEISKLEERVYNVSAEIMAMKEEQVHLEQEI
KGEVKVLNNITNDLRLKDWEHSQTLRNITLIQGPPGPPGEKGDRGPTGESGPRGFPGPIG
PPGLKGDRGAIGFPGSRGLPGYAGRPGNSGPKGQKGEKGSGNTLTPFTKVRLVGGSGPHE
GRVEILHSGQWGTICDDRWEVRVGQVVCRSLGYPGVQAVHKAAHFGQGTGPIWLNEVFCF
GRESSIEECKIRQWGTRACSHSEDAGVTCTL

Sequence length

451

Interactions

View interactions

	KEGG		Reactome
	Phagosome		Scavenging by Class A Receptors

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA	Pathogenic	rs387906645	RCV000022646
Ovarian cancer	Likely pathogenic	rs753739746, rs35175081, rs766853465, rs1205685022	RCV003154764 RCV003154775 RCV003154784 RCV003154787

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Barrett esophagus	Uncertain significance; Conflicting classifications of pathogenicity	rs868009130, rs41341748	RCV003140600 RCV003133117
Cervical cancer	Likely benign	rs113250199	RCV005933482
Clear cell carcinoma of kidney	Likely benign	rs150131889	RCV005903127
Familial cancer of breast	Likely benign	rs150131889	RCV005903125
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity	rs41341748	RCV000210798
MSR1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs41341748, rs555965157, rs747912839, rs113250199, rs377211096, rs751806093, rs149818618, rs4338104, rs142068602, rs34175190, rs377134001, rs150131889	RCV003964803 RCV003931844 RCV003961690 RCV003962159 RCV003961471 RCV003924396 RCV003956794 RCV003982174 RCV003966800 RCV003978344 RCV003932873 RCV003903044
Ovarian serous cystadenocarcinoma	Benign	rs76147566	RCV005927111
Papillary renal cell carcinoma type 1	Likely benign	rs150131889	RCV005903126
Prostate cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs41341748, rs72552387	RCV000015431 RCV000015432
Thyroid cancer, nonmedullary, 1	Likely benign	rs150131889	RCV005903128
X-linked Alport syndrome	Conflicting classifications of pathogenicity	rs41341748	RCV001258304

Show/Hide Text Mining Associations (76)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acne Vulgaris	Associate	37632192
Acute Coronary Syndrome	Stimulate	22763563
Adenocarcinoma	Associate	21791690, 30257286
Adenocarcinoma of Lung	Associate	20802348, 29850577, 30605235
Alopecia	Stimulate	35007355
Aortic Aneurysm Abdominal	Associate	25454106
Aphasia	Associate	38181310
Barrett Esophagus	Associate	21791690
Breast Neoplasms	Associate	17903305, 28574667, 28639912, 29509840
Breast Neoplasms	Stimulate	31799941
Carcinoma Pancreatic Ductal	Associate	24839953
Carcinoma Renal Cell	Associate	17911344
Carcinoma Squamous Cell	Associate	23154550, 31773684
Cardiovascular Abnormalities	Associate	35205232
Dyslipidemias	Associate	37632192
Encephalitis Tick Borne	Associate	31122248
Esophageal Neoplasms	Associate	23648122
Esophageal Squamous Cell Carcinoma	Associate	23648122, 25620088
Glioblastoma	Stimulate	31140757
Glioblastoma	Associate	34713474
Glioma	Associate	31140757, 33059718, 34713474
Hemangioma Cavernous Central Nervous System	Associate	25472749
HIV Infections	Associate	24731171
HIV Infections	Stimulate	32849508
Hodgkin Disease	Associate	31714922
Hypertension	Associate	35205232
Hypoxia	Stimulate	34713474
Idiopathic Pulmonary Fibrosis	Stimulate	24278429
Idiopathic Pulmonary Fibrosis	Associate	33604393
Infarction Middle Cerebral Artery	Associate	37270727
Infections	Inhibit	22396727
Inflammation	Associate	23221126, 23617307, 25454106, 31140757, 34713474
Insulin Resistance	Associate	19667111
Klebsiella Infections	Associate	33604393
Latent Tuberculosis	Associate	33328540
Lung Diseases Interstitial	Stimulate	29562615
Lupus Erythematosus Systemic	Stimulate	21280004
Lupus Nephritis	Associate	39224582
Lymphatic Metastasis	Stimulate	23648122, 28639912
Lymphoma Non Hodgkin	Associate	35142109
Neointima	Associate	33874983
Neoplasm Metastasis	Associate	28496107
Neoplasms	Associate	15260083, 20802348, 23154550, 23648122, 24839953, 26251261, 27425378, 27544999, 28496107, 29274107, 29509840, 29850577, 30963193, 31140757, 31601953 View all (9 more)
Neoplasms	Inhibit	39333342
Neuroendocrine Tumors	Stimulate	36461910
Neuroinflammatory Diseases	Associate	37270727
Ovarian Neoplasms	Associate	37876933
Personality Disorders	Associate	26251261
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24604828
Prostate cancer familial	Associate	12471593, 35286517
Prostatic Neoplasms	Associate	12471593, 17903305, 18436282, 26251261, 28317149, 29509840, 33509203, 35286517
Prostatic Neoplasms	Inhibit	20086112
Prostatitis	Associate	12471593, 29509840
Pulmonary Arterial Hypertension	Associate	33604393
Pulmonary Disease Chronic Obstructive	Associate	17361499, 20081102
Pulmonary Fibrosis	Associate	24278429
Respiratory Distress Syndrome	Associate	19635508
Retinal Dysplasia	Associate	36442992
Retinitis Pigmentosa	Associate	26781568, 36338669
Retinitis Pigmentosa 11	Associate	34680937
Schizophrenia	Associate	34857772
Severe Acute Respiratory Syndrome	Associate	19635508
Spinocerebellar Degenerations	Inhibit	20086112
Squamous Cell Carcinoma of Head and Neck	Associate	28496107, 34502382
Stomach Neoplasms	Associate	26182300, 36095948, 36484990, 38175202
Stress Disorders Post Traumatic	Associate	36631443
Stroke	Associate	38181310
Subarachnoid Hemorrhage	Associate	36515067
Tachycardia Atrioventricular Nodal Reentry	Associate	29850577
Thymoma	Associate	32277550
Triple Negative Breast Neoplasms	Associate	39776914
Tuberculosis	Associate	33328540
Uterine Cervicitis	Associate	29274107
Venous Thromboembolism	Associate	37537391
Virus Diseases	Associate	23717201
Wilms Tumor	Associate	33059718

MSR1 (macrophage scavenger receptor 1)