CR1L (complement C3b/C4b receptor 1 like)

Gene: CR1L (complement C3b/C4b receptor 1 like) Homo sapiens

Analyze

Symbol:

CR1L

Name:

complement C3b/C4b receptor 1 like

RGD ID:

1348835

HGNC Page

HGNC:2335

Description:

Acts upstream of or within regulation of complement activation and regulation of complement-dependent cytotoxicity. Part of receptor complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

complement C4b-binding protein CR-1-like protein; complement component (3b/4b) receptor 1-like; complement component 3b/4b receptor 1-like; complement component receptor 1-like protein; MGC129536

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	207,645,133 - 207,723,703 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	207,645,113 - 207,738,416 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	207,818,478 - 207,897,048 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	205,885,081 - 205,963,659 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	181,048,945 - 181,127,502 (+)	NCBI		Celera
Cytogenetic Map	1	q32.2	NCBI
HuRef	1	178,492,781 - 178,571,327 (+)	NCBI		HuRef
CHM1_1	1	209,090,815 - 209,169,432 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	206,891,887 - 206,970,453 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

common variable immunodeficiency 7 (IAGP)

gastrointestinal stromal tumor (IAGP)

genetic disease (IAGP)

Hypokalemic Periodic Paralysis, Type 1 (IAGP)

inflammatory bowel disease (IAGP)

parathyroid carcinoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-alpha-phellandrene (EXP)

1,2-dimethylhydrazine (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,6-dinitrotoluene (ISO)

2-nitrofluorene (ISO)

4,4'-diaminodiphenylmethane (ISO)

4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (ISO)

acetamide (ISO)

aconitine (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

alpha-phellandrene (EXP)

antirheumatic drug (EXP)

belinostat (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

clofibrate (ISO)

clofibric acid (ISO)

crocidolite asbestos (ISO)

diclofenac (ISO)

diethylstilbestrol (ISO)

diprotium oxide (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

folic acid (ISO)

gentamycin (ISO)

lipopolysaccharide (EXP)

methapyrilene (ISO)

N-nitrosodimethylamine (ISO)

ozone (ISO)

panobinostat (EXP)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (EXP)

perfluorooctanoic acid (EXP)

piperonyl butoxide (ISO)

pirinixic acid (ISO)

rotenone (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

sodium arsenate (ISO)

sodium arsenite (ISO)

sulforaphane (EXP)

Testosterone propionate (ISO)

tetrachloromethane (ISO)

thapsigargin (ISO)

trichostatin A (EXP)

valproic acid (EXP,ISO)

vitamin E (ISO)

water (ISO)

zinc sulfate (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to hypoxia (ISO)

complement activation (ISO)

in utero embryonic development (ISO)

negative regulation of complement activation (ISO)

negative regulation of complement activation, classical pathway (IBA)

regulation of complement activation (IDA)

regulation of complement-dependent cytotoxicity (IDA)

T cell mediated immunity (IBA)

Cellular Component

basolateral plasma membrane (ISO)

cell surface (ISO)

cytoplasm (IEA)

external side of plasma membrane (ISO)

extracellular region (IEA)

extracellular space (IBA)

membrane (IEA)

plasma membrane (IBA)

receptor complex (IDA)

Molecular Function

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

Gastrointestinal stroma tumor (IAGP)

Inflammation of the large intestine (IAGP)

Parathyroid carcinoma (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2295627	PMID:10737800	PMID:12477932	PMID:14687939	PMID:16344560	PMID:19060910	PMID:21700265	PMID:21873635	PMID:23382219	PMID:25056061	PMID:25284781	PMID:32296183
PMID:33961781

Genomics

Comparative Map Data

CR1L
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	207,645,133 - 207,723,703 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	207,645,113 - 207,738,416 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	207,818,478 - 207,897,048 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	205,885,081 - 205,963,659 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	181,048,945 - 181,127,502 (+)	NCBI		Celera
Cytogenetic Map	1	q32.2	NCBI
HuRef	1	178,492,781 - 178,571,327 (+)	NCBI		HuRef
CHM1_1	1	209,090,815 - 209,169,432 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	206,891,887 - 206,970,453 (+)	NCBI		T2T-CHM13v2.0

Cr1l
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	194,781,019 - 194,813,878 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	194,779,690 - 194,813,894 (-)	Ensembl		GRCm39 Ensembl
GRCm38	1	195,098,711 - 195,131,570 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	195,097,382 - 195,131,586 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	196,929,982 - 196,957,764 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	196,804,512 - 196,832,294 (-)	NCBI		MGSCv36	mm8
Celera	1	202,002,943 - 202,030,729 (-)	NCBI		Celera
Cytogenetic Map	1	H6	NCBI
cM Map	1	98.43	NCBI

Cr1l
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	109,138,132 - 109,189,068 (-)	NCBI		GRCr8
mRatBN7.2	13	106,606,952 - 106,660,442 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	106,574,858 - 106,660,445 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	109,130,564 - 109,177,767 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	110,514,391 - 110,561,600 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	107,738,850 - 107,786,080 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	113,824,886 - 113,872,097 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	113,824,892 - 113,872,097 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	118,372,894 - 118,420,106 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	111,010,296 - 111,057,427 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	13	111,204,343 - 111,251,475 (-)	NCBI
Celera	13	106,037,024 - 106,083,704 (-)	NCBI		Celera
RH 3.4 Map	13	756.5	RGD
Cytogenetic Map	13	q27	NCBI

CR1L
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	41,659,700 - 41,753,664 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	41,624,440 - 41,719,720 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	183,224,415 - 183,303,268 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	188,031,758 - 188,109,742 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	188,031,758 - 188,182,046 (+)	Ensembl	panpan1.1		panPan2

CR1L
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	25	21,713,661 - 21,780,968 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666055	22,317,471 - 22,392,380 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in CR1L
39 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	copy number gain	See cases [RCV000051857]	Chr1:187143981..224299417 [GRCh38] Chr1:187113113..224487119 [GRCh37] Chr1:185379736..222553742 [NCBI36] Chr1:1q31.1-42.11	pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3	copy number gain	See cases [RCV000051859]	Chr1:204990129..210220258 [GRCh38] Chr1:204959257..210572305 [GRCh37] Chr1:203225880..208638928 [NCBI36] Chr1:1q32.1-32.2	pathogenic
NM_175710.2(CR1L):c.1630C>T (p.Pro544Ser)	single nucleotide variant	not specified [RCV004229577]	Chr1:207717679 [GRCh38] Chr1:207891024 [GRCh37] Chr1:205957647 [NCBI36] Chr1:1q32.2	likely benign\|not provided
GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	copy number loss	See cases [RCV000139025]	Chr1:207583527..210159181 [GRCh38] Chr1:207756872..210332526 [GRCh37] Chr1:205823495..208399149 [NCBI36] Chr1:1q32.2	pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	copy number gain	See cases [RCV000142054]	Chr1:204764914..225408698 [GRCh38] Chr1:204734042..225596400 [GRCh37] Chr1:203000665..223663023 [NCBI36] Chr1:1q32.1-42.12	pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	copy number gain	See cases [RCV000143727]	Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44	pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	copy number gain	See cases [RCV000240137]	Chr1:197811907..228997888 [GRCh37] Chr1:1q31.3-42.13	pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	copy number gain	See cases [RCV000449172]	Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	copy number loss	Global developmental delay [RCV000626524]	Chr1:204682513..212815646 [GRCh37] Chr1:1q32.1-32.3	pathogenic
NM_175710.2(CR1L):c.493G>A (p.Ala165Thr)	single nucleotide variant	not specified [RCV004286380]	Chr1:207694382 [GRCh38] Chr1:207867727 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.557A>G (p.His186Arg)	single nucleotide variant	not specified [RCV004292128]	Chr1:207694446 [GRCh38] Chr1:207867791 [GRCh37] Chr1:1q32.2	likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
NC_000001.11:g.(?_204033173)_(208209798_?)del	deletion	Autism [RCV000754138]	Chr1:204033173..208209798 [GRCh38] Chr1:1q32.1-32.2	likely pathogenic
GRCh37/hg19 1q32.2(chr1:207723211-207820612)x1	copy number loss	not provided [RCV000736850]	Chr1:207723211..207820612 [GRCh37] Chr1:1q32.2	benign
GRCh37/hg19 1q32.2(chr1:207841934-207844773)x0	copy number loss	not provided [RCV000736858]	Chr1:207841934..207844773 [GRCh37] Chr1:1q32.2	benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3	copy number gain	not provided [RCV000749265]	Chr1:185644663..221698833 [GRCh37] Chr1:1q25.3-41	pathogenic
GRCh37/hg19 1q32.2(chr1:207673631-207837740)x3	copy number gain	not provided [RCV000749343]	Chr1:207673631..207837740 [GRCh37] Chr1:1q32.2	benign
NM_175710.2(CR1L):c.317T>C (p.Met106Thr)	single nucleotide variant	not specified [RCV004307389]	Chr1:207678237 [GRCh38] Chr1:207851582 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.65C>A (p.Ala22Glu)	single nucleotide variant	not specified [RCV004284478]	Chr1:207645298 [GRCh38] Chr1:207818643 [GRCh37] Chr1:1q32.2	uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	copy number gain	not provided [RCV000845852]	Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44	pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	copy number gain	not provided [RCV000848713]	Chr1:206329070..213263817 [GRCh37] Chr1:1q32.1-32.3	uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	copy number gain	See cases [RCV001007407]	Chr1:204045948..249218992 [GRCh37] Chr1:1q32.1-44	pathogenic
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	copy number gain	not provided [RCV001249273]	Chr1:194356425..210988710 [GRCh37] Chr1:1q31.3-32.2	not provided
NC_000001.10:g.(?_130980840)_(248900000_?)dup	duplication	Gastrointestinal stromal tumor [RCV001300221]\|Parathyroid carcinoma [RCV001341077]	Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44	uncertain significance
NC_000001.10:g.(?_206941981)_(208391267_?)dup	duplication	Immunodeficiency, common variable, 7 [RCV001939950]\|Inflammatory bowel disease [RCV001916125]	Chr1:206941981..208391267 [GRCh37] Chr1:1q32.1-32.2	uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup	duplication	Hypokalemic periodic paralysis, type 1 [RCV003119239]\|not provided [RCV003119240]	Chr1:200522516..208391267 [GRCh37] Chr1:1q32.1-32.2	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	copy number gain	See cases [RCV002287837]	Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44	pathogenic
NM_175710.2(CR1L):c.31T>C (p.Phe11Leu)	single nucleotide variant	not specified [RCV004306359]	Chr1:207645264 [GRCh38] Chr1:207818609 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.651G>C (p.Trp217Cys)	single nucleotide variant	not specified [RCV004218196]	Chr1:207694540 [GRCh38] Chr1:207867885 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.775C>G (p.Gln259Glu)	single nucleotide variant	not specified [RCV004138835]	Chr1:207694664 [GRCh38] Chr1:207868009 [GRCh37] Chr1:1q32.2	uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	copy number gain	not provided [RCV002475637]	Chr1:181453460..213107248 [GRCh37] Chr1:1q25.3-32.3	pathogenic
NM_175710.2(CR1L):c.329T>A (p.Ile110Asn)	single nucleotide variant	not specified [RCV004162370]	Chr1:207678249 [GRCh38] Chr1:207851594 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1405A>G (p.Ile469Val)	single nucleotide variant	not specified [RCV004160465]	Chr1:207708254 [GRCh38] Chr1:207881599 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1444C>G (p.Leu482Val)	single nucleotide variant	not specified [RCV004102387]	Chr1:207717493 [GRCh38] Chr1:207890838 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.472T>C (p.Cys158Arg)	single nucleotide variant	not specified [RCV004169650]	Chr1:207694361 [GRCh38] Chr1:207867706 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.899G>A (p.Arg300His)	single nucleotide variant	not specified [RCV004205695]	Chr1:207697539 [GRCh38] Chr1:207870884 [GRCh37] Chr1:1q32.2	likely benign
NM_175710.2(CR1L):c.398C>T (p.Ser133Leu)	single nucleotide variant	Inborn genetic diseases [RCV002952095]	Chr1:207683892 [GRCh38] Chr1:207857237 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1253T>A (p.Val418Asp)	single nucleotide variant	not specified [RCV004188098]	Chr1:207701543 [GRCh38] Chr1:207874888 [GRCh37] Chr1:1q32.2	likely benign
NM_175710.2(CR1L):c.1339A>T (p.Ile447Phe)	single nucleotide variant	not specified [RCV004126139]	Chr1:207708188 [GRCh38] Chr1:207881533 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1579G>A (p.Glu527Lys)	single nucleotide variant	not specified [RCV004202428]	Chr1:207717628 [GRCh38] Chr1:207890973 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1378A>G (p.Thr460Ala)	single nucleotide variant	not specified [RCV004071554]	Chr1:207708227 [GRCh38] Chr1:207881572 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.395C>A (p.Ser132Tyr)	single nucleotide variant	not specified [RCV004108010]	Chr1:207683889 [GRCh38] Chr1:207857234 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.113C>T (p.Pro38Leu)	single nucleotide variant	not specified [RCV004157267]	Chr1:207677404 [GRCh38] Chr1:207850749 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1637G>C (p.Gly546Ala)	single nucleotide variant	not specified [RCV004229580]	Chr1:207717686 [GRCh38] Chr1:207891031 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1636G>C (p.Gly546Arg)	single nucleotide variant	not specified [RCV004229578]	Chr1:207717685 [GRCh38] Chr1:207891030 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1550T>C (p.Ile517Thr)	single nucleotide variant	not specified [RCV004092762]	Chr1:207717599 [GRCh38] Chr1:207890944 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.218C>G (p.Pro73Arg)	single nucleotide variant	not specified [RCV004180569]	Chr1:207677509 [GRCh38] Chr1:207850854 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1096C>G (p.Leu366Val)	single nucleotide variant	not specified [RCV004263514]	Chr1:207697827 [GRCh38] Chr1:207871172 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1319G>C (p.Cys440Ser)	single nucleotide variant	not specified [RCV004321464]	Chr1:207701609 [GRCh38] Chr1:207874954 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1376A>G (p.Asn459Ser)	single nucleotide variant	not specified [RCV004353327]	Chr1:207708225 [GRCh38] Chr1:207881570 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.242A>G (p.Asn81Ser)	single nucleotide variant	not specified [RCV004348644]	Chr1:207677533 [GRCh38] Chr1:207850878 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.953G>A (p.Cys318Tyr)	single nucleotide variant	not specified [RCV004363259]	Chr1:207697593 [GRCh38] Chr1:207870938 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.827A>G (p.Asn276Ser)	single nucleotide variant	not specified [RCV004357543]	Chr1:207694716 [GRCh38] Chr1:207868061 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1112G>A (p.Gly371Glu)	single nucleotide variant	not specified [RCV004357991]	Chr1:207697843 [GRCh38] Chr1:207871188 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1046C>T (p.Ser349Phe)	single nucleotide variant	not specified [RCV004354454]	Chr1:207697777 [GRCh38] Chr1:207871122 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.51T>A (p.Pro17=)	single nucleotide variant	not provided [RCV003414748]	Chr1:207645284 [GRCh38] Chr1:207818629 [GRCh37] Chr1:1q32.2	likely benign
NM_175710.2(CR1L):c.804C>T (p.Ser268=)	single nucleotide variant	not provided [RCV003414749]	Chr1:207694693 [GRCh38] Chr1:207868038 [GRCh37] Chr1:1q32.2	likely benign
NM_175710.2(CR1L):c.196C>T (p.Arg66Cys)	single nucleotide variant	not specified [RCV004374836]	Chr1:207677487 [GRCh38] Chr1:207850832 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.5C>T (p.Ala2Val)	single nucleotide variant	not specified [RCV004374838]	Chr1:207645238 [GRCh38] Chr1:207818583 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.778C>T (p.Pro260Ser)	single nucleotide variant	not specified [RCV004374839]	Chr1:207694667 [GRCh38] Chr1:207868012 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1349C>T (p.Ser450Leu)	single nucleotide variant	not specified [RCV004374834]	Chr1:207708198 [GRCh38] Chr1:207881543 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1510T>A (p.Cys504Ser)	single nucleotide variant	not specified [RCV004374835]	Chr1:207717559 [GRCh38] Chr1:207890904 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.1240G>A (p.Glu414Lys)	single nucleotide variant	not specified [RCV004374833]	Chr1:207701530 [GRCh38] Chr1:207874875 [GRCh37] Chr1:1q32.2	likely benign
NM_175710.2(CR1L):c.585G>T (p.Lys195Asn)	single nucleotide variant	not specified [RCV004374837]	Chr1:207694474 [GRCh38] Chr1:207867819 [GRCh37] Chr1:1q32.2	uncertain significance
NM_175710.2(CR1L):c.912C>G (p.Asp304Glu)	single nucleotide variant	not specified [RCV004374840]	Chr1:207697552 [GRCh38] Chr1:207870897 [GRCh37] Chr1:1q32.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	567
Count of miRNA genes:	478
Interacting mature miRNAs:	518
Transcripts:	ENST00000294997, ENST00000430248, ENST00000508064, ENST00000530905, ENST00000531844
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

SHGC-76233

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	207,860,187 - 207,860,311	UniSTS	GRCh37
Build 36	1	205,926,810 - 205,926,934	RGD	NCBI36
Celera	1	181,090,658 - 181,090,782	RGD
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	178,534,471 - 178,534,595	UniSTS
TNG Radiation Hybrid Map	1	102408.0	UniSTS
GeneMap99-GB4 RH Map	1	682.37	UniSTS

SHGC-82542

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	207,817,885 - 207,818,162	UniSTS	GRCh37
GRCh37	1	207,924,641 - 207,924,917	UniSTS	GRCh37
Build 36	1	205,884,508 - 205,884,785	RGD	NCBI36
Celera	1	181,155,102 - 181,155,378	UniSTS
Celera	1	181,048,372 - 181,048,649	RGD
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	1	q32	UniSTS
HuRef	1	178,598,913 - 178,599,189	UniSTS
TNG Radiation Hybrid Map	1	102422.0	UniSTS

SHGC-76279

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	207,825,952 - 207,826,059	UniSTS	GRCh37
Build 36	1	205,892,575 - 205,892,682	RGD	NCBI36
Celera	1	181,056,437 - 181,056,544	RGD
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	1	q32	UniSTS
HuRef	1	178,500,265 - 178,500,372	UniSTS
TNG Radiation Hybrid Map	1	102389.0	UniSTS
GeneMap99-GB4 RH Map	1	687.84	UniSTS

SHGC-33387

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	207,857,235 - 207,857,359	UniSTS	GRCh37
GRCh37	1	207,684,932 - 207,685,056	UniSTS	GRCh37
Build 36	1	205,751,555 - 205,751,679	RGD	NCBI36
Celera	1	180,933,976 - 180,934,100	RGD
Celera	1	181,087,706 - 181,087,830	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	1	q32	UniSTS
HuRef	1	178,378,041 - 178,378,165	UniSTS
HuRef	1	178,531,537 - 178,531,661	UniSTS
TNG Radiation Hybrid Map	1	102358.0	UniSTS
GeneMap99-GB4 RH Map	1	686.04	UniSTS
Whitehead-RH Map	1	838.5	UniSTS
NCBI RH Map	1	1791.2	UniSTS

SHGC-53730

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	207,924,169 - 207,924,411	UniSTS	GRCh37
Build 36	1	205,990,792 - 205,991,034	RGD	NCBI36
Celera	1	181,047,910 - 181,048,133	RGD
Celera	1	181,154,630 - 181,154,872	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	178,598,441 - 178,598,683	UniSTS
HuRef	1	178,491,746 - 178,491,969	UniSTS
TNG Radiation Hybrid Map	1	102404.0	UniSTS

SHGC-76277

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	207,884,808 - 207,884,951	UniSTS	GRCh37
Build 36	1	205,951,431 - 205,951,574	RGD	NCBI36
Celera	1	181,115,281 - 181,115,424	RGD
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	178,559,106 - 178,559,249	UniSTS
TNG Radiation Hybrid Map	1	102408.0	UniSTS
GeneMap99-GB4 RH Map	1	686.14	UniSTS
NCBI RH Map	1	1791.2	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

Low

646

1025

172

106

154

Below cutoff

1416

1224

1175

438

654

317

2157

1006

2014

238

861

1055

126

897

1362

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_175710	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AH007399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL365178	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY114160	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC109190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC109191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE842163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE842176	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX094042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS300531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB337938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000294997 ⟹ ENSP00000434864

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	207,677,460 - 207,738,416 (+)	Ensembl

RefSeq Acc Id:

ENST00000430248

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	207,669,116 - 207,678,267 (+)	Ensembl

RefSeq Acc Id:

ENST00000508064 ⟹ ENSP00000421736

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	207,645,133 - 207,723,703 (+)	Ensembl

RefSeq Acc Id:

ENST00000530905

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	207,669,439 - 207,710,818 (+)	Ensembl

RefSeq Acc Id:

ENST00000531844

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	207,645,113 - 207,684,036 (+)	Ensembl

RefSeq Acc Id:

NM_175710 ⟹ NP_783641

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	207,645,133 - 207,723,703 (+)	NCBI
GRCh37	1	207,818,458 - 207,897,036 (+)	RGD
Build 36	1	205,885,081 - 205,963,659 (+)	NCBI Archive
Celera	1	181,048,945 - 181,127,502 (+)	RGD
HuRef	1	178,492,781 - 178,571,327 (+)	ENTREZGENE
CHM1_1	1	209,090,815 - 209,169,432 (+)	NCBI
T2T-CHM13v2.0	1	206,891,887 - 206,970,453 (+)	NCBI

Sequence:

show sequence

GTTGTGTCCACTAACCGGACTCAGAAGGGACTTCCCTGCTCGGCTGGCTTTCGGTTTCTCTGCT
CACCTCCGGATAAATCACGGGGTCTCCCGCGCCGCTCATGGCGCCTCCCGTCCGTCTCGAGCGT
CCCTTTCCTTCCCGGCGCTTTCCTGGGTTGCTTCTGGCGGCCCTGGTGTTGCTGCTGTCCTCCT
TCTCCGATCAATGCAATGTCCCGGAATGGCTTCCATTTGCCAGGCCTACCAACCTAACTGATGA
CTTTGAGTTTCCCATTGGGACATATCTGAACTATGAATGCCGCCCTGGTTATTCCGGAAGACCG
TTTTCTATCATCTGCCTAAAAAACTCAGTCTGGACAAGTGCTAAGGACAAGTGCAAACGTAAAT
CATGTCGTAATCCTCCAGATCCTGTGAATGGCATGGCACATGTGATCAAAGACATCCAGTTCAG
ATCCCAAATTAAATATTCTTGTCCTAAAGGATACCGACTCATTGGTTCCTCGTCTGCCACATGC
ATCATCTCAGGCAACACTGTCATTTGGGATAATAAAACACCTGTTTGTGACAGAATTATTTGTG
GGCTACCCCCCACCATCGCCAATGGAGATTTCACTAGCATCAGCAGAGAGTATTTTCACTATGG
ATCAGTGGTGACCTACCACTGCAATCTTGGAAGCAGAGGGAAAAAGGTGTTTGAGCTTGTGGGT
GAGCCCTCCATATACTGCACCAGCAAAGATGATCAAGTGGGCATCTGGAGTGGCCCAGCCCCTC
AGTGCATTATACCTAACAAATGCACGCCTCCAAATGTGGAAAATGGAATATTGGTATCTGACAA
CAGAAGCTTATTTTCCTTAAATGAAGTTGTGGAGTTTAGGTGTCAGCCTGGCTTTGGCATGAAA
GGGCCCTCCCATGTGAAGTGCCAGGCCCTGAACAAATGGGAGCCAGAGTTACCAAGCTGCTCCA
GGGTATGTCAGCCACCTCCAGATGTCCTGCATGCTGAGCGTACCCAAAGGGACAAGGACAACTT
TTCACCCGGGCAGGAAGTGTTCTACAGCTGTGAGCCCGGCTACGACCTCAGAGGATCTACGTAT
TTGCACTGCACACCCCAGGGAGACTGGAGCCCTGCAGCCCCCAGATGTGAAGTGAAATCCTGTG
ATGACTTCCTGGGCCAACTTCCTAATGGCCATGTGCTATTTCCACTTAATCTCCAGCTTGGAGC
AAAAGTGGATTTTGTTTGTGATGAAGGATTTCAATTAAAAGGCAGCTCTGCTAGTTACTGTGTT
TTGGCTGGAATGGAAAGCCTTTGGAATAGCAGTGTTCCAGTGTGTGAACGTAAATCATGTGAAA
CTCCTCCAGTTCCAGTGAATGGCATGGTGCATGTGATCACAGACATCCATGTTGGATCCAGAAT
CAACTATTCTTGTACTACAGGGCACCGACTCATTGGTCACTCATCTGCTGAATGTATCCTCTCG
GGCAATACTGCCCATTGGAGCATGAAGCCACCAATTTGTCAACAAATCTTTTGTCCAAATCCTC
CAGCTATCCTTAATGGGAGACACACAGGAACTCCCCTTGGAGATATTCCCTATGGAAAAGAAGT
ATCTTACACATGTGACCCCCACCCAGACAGAGGGATGACCTTCAACCTCATTGGGGAGAGCACC
ATCCGCCGCACAAGTGAACCTCATGGGAATGGGGTTTGGAGCAGCCCTGCCCCTCGCTGTGAAC
TTCCTGTTGGTGCTGGTTCACATGATGCTCTTATAGTTGGTAAGTTTTATGAAGTGTTTGCTGA
GGAATTCTGTCATCTTTAACAGTAAGTACCTACTTAT

hide sequence

Protein Sequences


Protein RefSeqs	NP_783641	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI09191	(Get FASTA)	NCBI Sequence Viewer
	AAI09192	(Get FASTA)	NCBI Sequence Viewer
	AAM47024	(Get FASTA)	NCBI Sequence Viewer
	CAK32195	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000421736
	ENSP00000421736.2
	ENSP00000434864.1
GenBank Protein	Q2VPA4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_783641 ⟸ NM_175710
- Peptide Label:	precursor
- UniProtKB:	Q32MC9 (UniProtKB/Swiss-Prot), Q8NEU7 (UniProtKB/Swiss-Prot), Q2VPA4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAPPVRLERPFPSRRFPGLLLAALVLLLSSFSDQCNVPEWLPFARPTNLTDDFEFPIGTYLNYE CRPGYSGRPFSIICLKNSVWTSAKDKCKRKSCRNPPDPVNGMAHVIKDIQFRSQIKYSCPKGYR LIGSSSATCIISGNTVIWDNKTPVCDRIICGLPPTIANGDFTSISREYFHYGSVVTYHCNLGSR GKKVFELVGEPSIYCTSKDDQVGIWSGPAPQCIIPNKCTPPNVENGILVSDNRSLFSLNEVVEF RCQPGFGMKGPSHVKCQALNKWEPELPSCSRVCQPPPDVLHAERTQRDKDNFSPGQEVFYSCEP GYDLRGSTYLHCTPQGDWSPAAPRCEVKSCDDFLGQLPNGHVLFPLNLQLGAKVDFVCDEGFQL KGSSASYCVLAGMESLWNSSVPVCERKSCETPPVPVNGMVHVITDIHVGSRINYSCTTGHRLIG HSSAECILSGNTAHWSMKPPICQQIFCPNPPAILNGRHTGTPLGDIPYGKEVSYTCDPHPDRGM TFNLIGESTIRRTSEPHGNGVWSSPAPRCELPVGAGSHDALIVGKFYEVFAEEFCHL hide sequence

RefSeq Acc Id:

ENSP00000434864 ⟸ ENST00000294997

RefSeq Acc Id:

ENSP00000421736 ⟸ ENST00000508064

Protein Domains

Sushi

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q2VPA4-F1-model_v2	AlphaFold	Q2VPA4	1-569	view protein structure

Promoters

RGD ID:

6785485

Promoter ID:

HG_KWN:7129

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

ENST00000401664, NM_175710, UC001HFZ.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	205,884,826 - 205,885,326 (+)	MPROMDB

RGD ID:

6858838

Promoter ID:

EPDNEW_H2584

Type:

initiation region

Name:

CR1L_1

Description:

complement C3b/C4b receptor 1 like

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	207,645,155 - 207,645,215	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2335	AgrOrtholog
COSMIC	CR1L	COSMIC
Ensembl Genes	ENSG00000197721	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000294997.10	UniProtKB/TrEMBL
	ENST00000508064	ENTREZGENE
	ENST00000508064.7	UniProtKB/Swiss-Prot
Gene3D-CATH	Complement Module, domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000197721	GTEx
HGNC ID	HGNC:2335	ENTREZGENE
Human Proteome Map	CR1L	Human Proteome Map
InterPro	Sushi/SCR/CCP_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sushi_SCR_CCP_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:1379	UniProtKB/Swiss-Prot
NCBI Gene	1379	ENTREZGENE
OMIM	605886	OMIM
PANTHER	COMPLEMENT COMPONENT-RELATED SUSHI DOMAIN-CONTAINING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	COMPLEMENT RECEPTOR TYPE 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Sushi	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA26856	PharmGKB
PROSITE	SUSHI	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	CCP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF57535	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0C4DGF5_HUMAN	UniProtKB/TrEMBL
	CR1L_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q32MC9	ENTREZGENE
	Q8NEU7	ENTREZGENE
UniProt Secondary	Q32MC9	UniProtKB/Swiss-Prot
	Q8NEU7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-08-16	CR1L	complement C3b/C4b receptor 1 like		complement component 3b/4b receptor 1-like	Symbol and/or name change	5135510	APPROVED
2016-01-19	CR1L	complement component 3b/4b receptor 1-like		complement component (3b/4b) receptor 1-like	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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