CBS (cystathionine beta-synthase)

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Gene: CBS (cystathionine beta-synthase) Sus scrofa

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Symbol:

CBS

Name:

cystathionine beta-synthase

RGD ID:

14281716

Description:

ENCODES a protein that exhibits carbon monoxide binding (inferred); cystathionine beta-synthase activity (inferred); enzyme binding (inferred); INVOLVED IN blood vessel diameter maintenance (ortholog); blood vessel remodeling (ortholog); cartilage development involved in endochondral bone morphogenesis (ortholog); PARTICIPATES IN cystathioninuria pathway; dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; ASSOCIATED WITH autism spectrum disorder (ortholog); cardiovascular system disease (ortholog); cataract 9 multiple types (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH ethanol; folic acid

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

cystathionine-beta-synthase

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

Sscrofa11.1 - Pig Sscrofa11.1 Assembly

Position:

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	206,205,946 - 206,230,248 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	206,205,942 - 206,231,363 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (ISO)

cardiovascular system disease (ISO)

cataract 9 multiple types (ISO)

cerebral infarction (ISO)

Chronic Experimental Pancreatitis (ISO)

combined oxidative phosphorylation deficiency 3 (ISO)

connective tissue disease (ISO)

coronary artery disease (ISO)

developmental and epileptic encephalopathy 30 (ISO)

Endotoxemia (ISO)

familial hypercholesterolemia (ISO)

hereditary breast ovarian cancer syndrome (ISO)

homocystinuria (ISO)

Homocystinuria, Pyridoxine-Responsive (ISO)

hyperhomocysteinemia (ISO)

hypertension (ISO)

intellectual disability (ISO)

irritable bowel syndrome (ISO)

malaria (ISO)

Malnutrition (ISO)

melanoma (ISO)

neural tube defect (ISO)

non-Hodgkin lymphoma (ISO)

Prenatal Exposure Delayed Effects (ISO)

primary ciliary dyskinesia (ISO)

progressive myoclonus epilepsy (ISO)

Sepsis (ISO)

thoracic aortic aneurysm (ISO)

transient cerebral ischemia (ISO)

tuberculosis (ISO)

type 2 diabetes mellitus (ISO)

vitamin B12 deficiency (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

ethanol (EXP)

folic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

blood vessel diameter maintenance (IEA,ISO)

blood vessel remodeling (IEA,ISO)

cartilage development involved in endochondral bone morphogenesis (IEA,ISO)

cellular response to hypoxia (ISO)

cerebellum morphogenesis (IEA,ISO)

cysteine biosynthetic process (IEA,ISO)

cysteine biosynthetic process from serine (IBA,IEA)

cysteine biosynthetic process via cystathionine (IEA)

cysteine metabolic process (IEA)

DNA protection (IEA)

endochondral ossification (IEA,ISO)

homocysteine catabolic process (IEA)

homocysteine metabolic process (IEA,ISO)

hydrogen sulfide biosynthetic process (IEA)

L-cysteine catabolic process (IEA)

L-serine catabolic process (IEA)

L-serine metabolic process (IEA)

maternal process involved in female pregnancy (IEA,ISO)

negative regulation of apoptotic process (ISO)

regulation of JNK cascade (ISO)

regulation of nitric oxide mediated signal transduction (IEA,ISO)

response to folic acid (IEA,ISO)

response to nutrient levels (ISO)

serine family amino acid metabolic process (IEA)

sulfur compound biosynthetic process (IEA)

superoxide metabolic process (IEA,ISO)

transsulfuration (ISO)

Cellular Component

cytoplasm (IBA,IEA)

nucleus (IEA)

Molecular Function

carbon monoxide binding (IEA)

cystathionine beta-synthase activity (IBA,IEA)

enzyme binding (IEA)

heme binding (IEA)

identical protein binding (IEA)

lyase activity (IEA)

modified amino acid binding (IEA)

nitric oxide binding (IEA)

nitrite reductase (NO-forming) activity (IEA)

oxygen binding (IEA)

protein binding (ISO)

protein homodimerization activity (IEA)

pyridoxal phosphate binding (IEA)

S-adenosyl-L-methionine binding (IEA)

ubiquitin protein ligase binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

cystathioninuria pathway (ISO)

dihydropyrimidine dehydrogenase deficiency pathway (ISO)

dimethylglycine dehydrogenase deficiency pathway (ISO)

glycine N-methyltransferase deficiency pathway (ISO)

homocystinuria pathway (ISO)

hypermethioninemia pathway (ISO)

methionine cycle/metabolic pathway (ISO)

methylenetetrahydrofolate reductase deficiency pathway (ISO)

nonketotic hyperglycinemia pathway (ISO)

sarcosinemia pathway (ISO)

selenoamino acid metabolic pathway (ISO)

transsulfuration pathway of homocysteine metabolism (ISO)

References

Additional References at PubMed

PMID:14681463	PMID:17145712	PMID:22301074	PMID:28552745	PMID:30032202

Genomics

Comparative Map Data

CBS
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	206,205,946 - 206,230,248 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	206,205,942 - 206,231,363 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

CBS
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	21	43,053,191 - 43,076,873 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	43,053,191 - 43,076,943 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	44,473,301 - 44,496,983 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	43,346,370 - 43,369,490 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	43,346,369 - 43,369,493	NCBI
Celera	21	29,625,968 - 29,649,139 (-)	NCBI		Celera
Cytogenetic Map	21	q22.3	NCBI
HuRef	21	29,891,797 - 29,914,621 (-)	NCBI		HuRef
CHM1_1	21	44,034,200 - 44,057,328 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	21	41,444,310 - 41,468,059 (-)	NCBI		T2T-CHM13v2.0

Cbs
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	31,831,602 - 31,856,170 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	31,827,868 - 31,856,212 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	31,612,623 - 31,637,233 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	31,608,894 - 31,637,238 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	31,749,589 - 31,774,086 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	31,341,354 - 31,365,851 (-)	NCBI		MGSCv36	mm8
Celera	17	32,529,962 - 32,554,408 (-)	NCBI		Celera
Cytogenetic Map	17	B1	NCBI
cM Map	17	16.93	NCBI

Cbs
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	9,709,394 - 9,733,925 (-)	NCBI		GRCr8
mRatBN7.2	20	9,708,089 - 9,732,623 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	9,708,090 - 9,732,764 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	10,408,753 - 10,433,368 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	9,769,935 - 9,794,554 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	10,239,612 - 10,263,909 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	10,361,987 - 10,386,663 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	10,361,988 - 10,386,751 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	12,549,959 - 12,574,111 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	10,047,478 - 10,075,520 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	10,047,871 - 10,075,744 (-)	NCBI
Celera	20	11,221,836 - 11,246,354 (-)	NCBI		Celera
RH 3.4 Map	20	114.36	RGD
Cytogenetic Map	20	p12	NCBI

Cbs
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955407	38,924,321 - 38,939,790 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955407	38,924,355 - 38,939,790 (+)	NCBI	ChiLan1.0	ChiLan1.0

CBS
(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	22	39,110,114 - 39,134,790 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	21	33,962,881 - 33,987,091 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	21	29,361,519 - 29,385,610 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	21	42,670,530 - 42,693,300 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	21	42,670,530 - 42,690,932 (-)	Ensembl	panpan1.1		panPan2

CBS
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	31	37,230,900 - 37,247,170 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	31	36,381,153 - 36,399,797 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	31	36,773,609 - 36,792,296 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	31	36,773,643 - 36,792,300 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	31	36,640,852 - 36,659,539 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	31	36,620,580 - 36,639,238 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	31	37,118,109 - 37,136,774 (-)	NCBI		UU_Cfam_GSD_1.0

Cbs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404971	36,464,257 - 36,490,204 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936500	987,128 - 1,003,388 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936500	976,043 - 1,003,559 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LOC103221104
(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	2	86,905,104 - 86,933,780 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666054	14,889,500 - 14,930,985 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cbs
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624745	27,673,748 - 27,688,462 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624745	27,676,430 - 27,687,573 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CBS
640 total Variants

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

alimentary part of gastrointestinal system	circulatory system	ectoderm	endocrine system	endoderm	hemolymphoid system	mesenchyme	mesoderm	nervous system	renal system	reproductive system	respiratory system
8	2	23	3	1	5	11	10	23	3	6	2

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_021071045	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021071046	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021071047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AEMK02000093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK393989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GFLN01061382	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM187762	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSSSCT00000036696 ⟹ ENSSSCP00000046337

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	13	206,206,662 - 206,230,248 (-)	Ensembl

Ensembl Acc Id:

ENSSSCT00000062702 ⟹ ENSSSCP00000048950

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	13	206,205,946 - 206,230,243 (-)	Ensembl

RefSeq Acc Id:

XM_021071045 ⟹ XP_020926704

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	13	206,205,942 - 206,230,269 (-)	NCBI

Sequence:

show sequence

GCTCTGTGCCCGAGGGGAGCTGTGCCAGGGCCAGCGGGGCTGAGCCGGGCGGTGCCAGGAGAAG
CCCGCCGATTGGAACTCAAGTCATCAAGCGAGCGACCCGCCTAGTGCCTGTGGGTTCTTCGGAG
ACTAGGTCGCTTTCAATCTTTGTTCCTGGCGGTCCTTACTTTTTGGGAGATTGCTCCAGGTGAG
GCAAGTCGCCACATAGGAGGCGCGGGGCTGCCCGCGTGTTCGGGCTGCTTTGCGTGGTATTCTG
GCCCGTCTCGCAGCTGAGTGCGTGCCCACCTGGCCAGGGCGCTGCAGGCAGGTCGGCCTCTGAT
GGGGAAAGAGTTCTGCTGGATGGAAGAACCCTCTCCCCACGGGCAGGACTCCGCTTCCCGCGGG
CACTTTTTCAAAGATCCCGGCATGCCTTCTGAGACACCCCAGGCGGAAGAGAGGGCTGCGGGGT
GCCCCCGCCTCTCCGCGGCACACTTGCGGAAAGGCAGCCTGGAAAAGCGGCCTCCGGGGGACAA
GGACACCAAGGAGCACCTGTGGATCAGTCCTGACACCCCGAGCAGGTGCCTCTGGCAGCTGGGC
AGGCCCGTCACCGACTCTCCACACCACCACACCACCTTGGCAAAATCCCCCCAAATCTTGCCAG
ATATCCTGAAGAAAATTGGGGACACCCCCATGGTGAGAATCAACAAGATCGGGAGACGCTTCGG
TCTGAAGTGTGAGCTCCTGGCCAAGTGCGAGTTCTTCAACGCTGGCGGGAGCGTCAAGGACCGC
ATCAGCCTTCGGATGGTCGAGGACGCAGAGCGCGCTGGGACCCTGAAGCCTGGGGACACCATCA
TTGAGCCGACGTCGGGGAACACAGGGATCGGGCTGGCCCTGGCCGCTGCCGTGAAGGGCTACCG
CTGTATCATCGTGATGCCGGAGAAGATGAGCTCGGAGAAGGTGGATGTCCTGAGGGCCCTGGGG
GCCGAGATCGTGAGGACGCCCACCAATGCCAGGTTCGACTCCCCCGAGTCGCATGTGGGAGTGG
CCTGGAGGCTGAGGAATGAGATCCCCAATTCTCACATCCTGGACCAGTACCGCAATGCTAGCAA
CCCCCTTGCTCACTACGACATCACAGCCGAGGAGATCCTGCTGCAGTGCAACGGGAAGCTGGAC
ATGCTGGTGGCCTCGGCGGGCACGGGCGGCACCATCACGGGCATTGCCAGGAAGCTGAAGGAGA
AGTGCCCGGGATGCAAGATCATCGGGGTGGACCCCGAAGGCTCCGTCCTCGCCGAGCCCGAGGA
GCTGAACCAGACGGAGCAGACAGCCTACGAGGTGGAAGGCATCGGCTATGACTTCATCCCCACC
GTGCTGGACCGCTCGGTGGTGGACAAGTGGTTCAAGAGCAACGACGAGGAGGCCTTCGCCTTTG
CGCGCATGCTGATCGCGCAGGAGGGGCTGCTGTGCGGTGGCAGTGCTGGCAGTGCCATGTCCGT
GGCCGTGAAGGCTGCCCAGGAGCTGCAAGAGGGTCAGCGCTGCGTGGTGATCCTGCCAGACTCT
GTGCGCAACTACATGTCCAAGTTCCTGAGTGACAAGTGGATGCTGCAGAAGGGCTTCATGAAGG
AGGAGGACCTCTCGGTGAAGAAGCCATGGTGGTGGCATCTCCGAGTTCAGGAGCTGAGCCTGTC
GGCCCCGCTGACCGTGCTGCCCACGGTCACCTGCGAGCACACCATCGAGATCCTCCGGGAGAAG
GGCTTCGACCAGGCGCCCGTGGTGGACGAGTCGGGGGTGGTCCTGGGGATGGTGACTCTGGGGA
ACATGCTGTCGTCCCTGCTCGCGGGGAAGATTCAGCCGTCGGACCAAGTTCGCAAAGTCATCTA
CAAGCAGTTCAAACAGATCCGCCTGACAGACCCGCTGGGCAAGCTCTCCCACATCCTGGAGATG
GACCACTTCGCCCTGGTGGTCCATGAGCAGATCCAGTACCACAGCCACGGGGAGTCCAGCAAGA
GGCAGATGGTGTTCGGGGTCGTCACGGCCATTGACTTGCTCAACTTCGTGGCCGCCCGGGAGCG
GATCCAGAAGACGAAGCCAGGAAGTGCCCTGGATGCCAGGGGCGCCGGGGCCGCGGCCCAGTCC
TGAGCCTCCAGAAACACCACACACTCATGTTCTGCCGCAGCCCGCGAGGGCCCCGCGCTCGCGG
CAGGTAGCAGAGCGGGCGTAGGACGCGCACTGCTTTGCCCAGGCCAGCAGCAGCGGTGTCATTT
CTTCTCCGGTCAATAACACTTGGCGGCCTTAAAGAATCTATTTATGGTTTGTTCAATGAGATGG
TTTTCTTTACCTTTCTCTGAATGTTTCATTGAGCACGTCCATTAAAAGAGGACTCGGGGGGGGG
GGGCGGAGCATGTGGTGACGGGGGCGGGGGGATTAAAGGCAGGGTCCAGAGTGGGGAGTGGGGA
GCGCCAGAGTGGGGCTGGGGGCCGGGGCTCGGTCAGGCCCCGTCTCACGGCCGCCTTGTCCTCT
TGGGGCCGGCTGGGTCCGAGTGGCTGGAGTGCTCGGGCGGGCGGGGGCTGGTTCATTGAGGCGC
AATTGACATGCACCTAAACCGATCCACTTGAAAATGTGTGATTCAGGAGCGCTATGACATTGCC
GGTGTGGCGCAGCCACCCCCCCGTCAGGTTCTCAAACATTCCATCCCCCATTAAACGGTCGCTC
ACCGCACCCCCCCCACACCCCCACGCTAATCTTTCTGTCCCCATGGATTTGCTTATTTGGGATA
CTTCCTATAAAAAGAATCGCACAACCTTGA

hide sequence

RefSeq Acc Id:

XM_021071046 ⟹ XP_020926705

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	13	206,205,942 - 206,231,363 (-)	NCBI

Sequence:

show sequence

GCCTCCCTCCCACTCTGGCCGCCGGGTCCCCAGGGAGCCGGCCAGCCCCTGGTCTGGTCTCGAA
GTCGCAGCTTTCCGGGTCACTGCTCGCCGCTCTCAGAGGCGCCCAGCCTGCTGCTCTTCCCCGG
TCTCGGTCCAGATCCCGGCATGCCTTCTGAGACACCCCAGGCGGAAGAGAGGGCTGCGGGGTGC
CCCCGCCTCTCCGCGGCACACTTGCGGAAAGGCAGCCTGGAAAAGCGGCCTCCGGGGGACAAGG
ACACCAAGGAGCACCTGTGGATCAGTCCTGACACCCCGAGCAGGTGCCTCTGGCAGCTGGGCAG
GCCCGTCACCGACTCTCCACACCACCACACCACCTTGGCAAAATCCCCCCAAATCTTGCCAGAT
ATCCTGAAGAAAATTGGGGACACCCCCATGGTGAGAATCAACAAGATCGGGAGACGCTTCGGTC
TGAAGTGTGAGCTCCTGGCCAAGTGCGAGTTCTTCAACGCTGGCGGGAGCGTCAAGGACCGCAT
CAGCCTTCGGATGGTCGAGGACGCAGAGCGCGCTGGGACCCTGAAGCCTGGGGACACCATCATT
GAGCCGACGTCGGGGAACACAGGGATCGGGCTGGCCCTGGCCGCTGCCGTGAAGGGCTACCGCT
GTATCATCGTGATGCCGGAGAAGATGAGCTCGGAGAAGGTGGATGTCCTGAGGGCCCTGGGGGC
CGAGATCGTGAGGACGCCCACCAATGCCAGGTTCGACTCCCCCGAGTCGCATGTGGGAGTGGCC
TGGAGGCTGAGGAATGAGATCCCCAATTCTCACATCCTGGACCAGTACCGCAATGCTAGCAACC
CCCTTGCTCACTACGACATCACAGCCGAGGAGATCCTGCTGCAGTGCAACGGGAAGCTGGACAT
GCTGGTGGCCTCGGCGGGCACGGGCGGCACCATCACGGGCATTGCCAGGAAGCTGAAGGAGAAG
TGCCCGGGATGCAAGATCATCGGGGTGGACCCCGAAGGCTCCGTCCTCGCCGAGCCCGAGGAGC
TGAACCAGACGGAGCAGACAGCCTACGAGGTGGAAGGCATCGGCTATGACTTCATCCCCACCGT
GCTGGACCGCTCGGTGGTGGACAAGTGGTTCAAGAGCAACGACGAGGAGGCCTTCGCCTTTGCG
CGCATGCTGATCGCGCAGGAGGGGCTGCTGTGCGGTGGCAGTGCTGGCAGTGCCATGTCCGTGG
CCGTGAAGGCTGCCCAGGAGCTGCAAGAGGGTCAGCGCTGCGTGGTGATCCTGCCAGACTCTGT
GCGCAACTACATGTCCAAGTTCCTGAGTGACAAGTGGATGCTGCAGAAGGGCTTCATGAAGGAG
GAGGACCTCTCGGTGAAGAAGCCATGGTGGTGGCATCTCCGAGTTCAGGAGCTGAGCCTGTCGG
CCCCGCTGACCGTGCTGCCCACGGTCACCTGCGAGCACACCATCGAGATCCTCCGGGAGAAGGG
CTTCGACCAGGCGCCCGTGGTGGACGAGTCGGGGGTGGTCCTGGGGATGGTGACTCTGGGGAAC
ATGCTGTCGTCCCTGCTCGCGGGGAAGATTCAGCCGTCGGACCAAGTTCGCAAAGTCATCTACA
AGCAGTTCAAACAGATCCGCCTGACAGACCCGCTGGGCAAGCTCTCCCACATCCTGGAGATGGA
CCACTTCGCCCTGGTGGTCCATGAGCAGATCCAGTACCACAGCCACGGGGAGTCCAGCAAGAGG
CAGATGGTGTTCGGGGTCGTCACGGCCATTGACTTGCTCAACTTCGTGGCCGCCCGGGAGCGGA
TCCAGAAGACGAAGCCAGGAAGTGCCCTGGATGCCAGGGGCGCCGGGGCCGCGGCCCAGTCCTG
AGCCTCCAGAAACACCACACACTCATGTTCTGCCGCAGCCCGCGAGGGCCCCGCGCTCGCGGCA
GGTAGCAGAGCGGGCGTAGGACGCGCACTGCTTTGCCCAGGCCAGCAGCAGCGGTGTCATTTCT
TCTCCGGTCAATAACACTTGGCGGCCTTAAAGAATCTATTTATGGTTTGTTCAATGAGATGGTT
TTCTTTACCTTTCTCTGAATGTTTCATTGAGCACGTCCATTAAAAGAGGACTCGGGGGGGGGGG
GCGGAGCATGTGGTGACGGGGGCGGGGGGATTAAAGGCAGGGTCCAGAGTGGGGAGTGGGGAGC
GCCAGAGTGGGGCTGGGGGCCGGGGCTCGGTCAGGCCCCGTCTCACGGCCGCCTTGTCCTCTTG
GGGCCGGCTGGGTCCGAGTGGCTGGAGTGCTCGGGCGGGCGGGGGCTGGTTCATTGAGGCGCAA
TTGACATGCACCTAAACCGATCCACTTGAAAATGTGTGATTCAGGAGCGCTATGACATTGCCGG
TGTGGCGCAGCCACCCCCCCGTCAGGTTCTCAAACATTCCATCCCCCATTAAACGGTCGCTCAC
CGCACCCCCCCCACACCCCCACGCTAATCTTTCTGTCCCCATGGATTTGCTTATTTGGGATACT
TCCTATAAAAAGAATCGCACAACCTTGA

hide sequence

RefSeq Acc Id:

XM_021071047 ⟹ XP_020926706

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	13	206,205,942 - 206,230,269 (-)	NCBI

Sequence:

show sequence

GCTCTGTGCCCGAGGGGAGCTGTGCCAGGGCCAGCGGGGCTGAGCCGGGCGGTGCCAGGAGAAG
CCCGCCGATTGGAACTCAAGTCATCAAGCGAGCGACCCGCCTAGTGCCTGTGGGTTCTTCGGAG
ACTAGGTCGCTTTCAATCTTTGTTCCTGGCGGTCCTTACTTTTTGGGAGATTGCTCCAGATCCC
GGCATGCCTTCTGAGACACCCCAGGCGGAAGAGAGGGCTGCGGGGTGCCCCCGCCTCTCCGCGG
CACACTTGCGGAAAGGCAGCCTGGAAAAGCGGCCTCCGGGGGACAAGGACACCAAGGAGCACCT
GTGGATCAGTCCTGACACCCCGAGCAGGTGCCTCTGGCAGCTGGGCAGGCCCGTCACCGACTCT
CCACACCACCACACCACCTTGGCAAAATCCCCCCAAATCTTGCCAGATATCCTGAAGAAAATTG
GGGACACCCCCATGGTGAGAATCAACAAGATCGGGAGACGCTTCGGTCTGAAGTGTGAGCTCCT
GGCCAAGTGCGAGTTCTTCAACGCTGGCGGGAGCGTCAAGGACCGCATCAGCCTTCGGATGGTC
GAGGACGCAGAGCGCGCTGGGACCCTGAAGCCTGGGGACACCATCATTGAGCCGACGTCGGGGA
ACACAGGGATCGGGCTGGCCCTGGCCGCTGCCGTGAAGGGCTACCGCTGTATCATCGTGATGCC
GGAGAAGATGAGCTCGGAGAAGGTGGATGTCCTGAGGGCCCTGGGGGCCGAGATCGTGAGGACG
CCCACCAATGCCAGGTTCGACTCCCCCGAGTCGCATGTGGGAGTGGCCTGGAGGCTGAGGAATG
AGATCCCCAATTCTCACATCCTGGACCAGTACCGCAATGCTAGCAACCCCCTTGCTCACTACGA
CATCACAGCCGAGGAGATCCTGCTGCAGTGCAACGGGAAGCTGGACATGCTGGTGGCCTCGGCG
GGCACGGGCGGCACCATCACGGGCATTGCCAGGAAGCTGAAGGAGAAGTGCCCGGGATGCAAGA
TCATCGGGGTGGACCCCGAAGGCTCCGTCCTCGCCGAGCCCGAGGAGCTGAACCAGACGGAGCA
GACAGCCTACGAGGTGGAAGGCATCGGCTATGACTTCATCCCCACCGTGCTGGACCGCTCGGTG
GTGGACAAGTGGTTCAAGAGCAACGACGAGGAGGCCTTCGCCTTTGCGCGCATGCTGATCGCGC
AGGAGGGGCTGCTGTGCGGTGGCAGTGCTGGCAGTGCCATGTCCGTGGCCGTGAAGGCTGCCCA
GGAGCTGCAAGAGGGTCAGCGCTGCGTGGTGATCCTGCCAGACTCTGTGCGCAACTACATGTCC
AAGTTCCTGAGTGACAAGTGGATGCTGCAGAAGGGCTTCATGAAGGAGGAGGACCTCTCGGTGA
AGAAGCCATGGTGGTGGCATCTCCGAGTTCAGGAGCTGAGCCTGTCGGCCCCGCTGACCGTGCT
GCCCACGGTCACCTGCGAGCACACCATCGAGATCCTCCGGGAGAAGGGCTTCGACCAGGCGCCC
GTGGTGGACGAGTCGGGGGTGGTCCTGGGGATGGTGACTCTGGGGAACATGCTGTCGTCCCTGC
TCGCGGGGAAGATTCAGCCGTCGGACCAAGTTCGCAAAGTCATCTACAAGCAGTTCAAACAGAT
CCGCCTGACAGACCCGCTGGGCAAGCTCTCCCACATCCTGGAGATGGACCACTTCGCCCTGGTG
GTCCATGAGCAGATCCAGTACCACAGCCACGGGGAGTCCAGCAAGAGGCAGATGGTGTTCGGGG
TCGTCACGGCCATTGACTTGCTCAACTTCGTGGCCGCCCGGGAGCGGATCCAGAAGACGAAGCC
AGGAAGTGCCCTGGATGCCAGGGGCGCCGGGGCCGCGGCCCAGTCCTGAGCCTCCAGAAACACC
ACACACTCATGTTCTGCCGCAGCCCGCGAGGGCCCCGCGCTCGCGGCAGGTAGCAGAGCGGGCG
TAGGACGCGCACTGCTTTGCCCAGGCCAGCAGCAGCGGTGTCATTTCTTCTCCGGTCAATAACA
CTTGGCGGCCTTAAAGAATCTATTTATGGTTTGTTCAATGAGATGGTTTTCTTTACCTTTCTCT
GAATGTTTCATTGAGCACGTCCATTAAAAGAGGACTCGGGGGGGGGGGGCGGAGCATGTGGTGA
CGGGGGCGGGGGGATTAAAGGCAGGGTCCAGAGTGGGGAGTGGGGAGCGCCAGAGTGGGGCTGG
GGGCCGGGGCTCGGTCAGGCCCCGTCTCACGGCCGCCTTGTCCTCTTGGGGCCGGCTGGGTCCG
AGTGGCTGGAGTGCTCGGGCGGGCGGGGGCTGGTTCATTGAGGCGCAATTGACATGCACCTAAA
CCGATCCACTTGAAAATGTGTGATTCAGGAGCGCTATGACATTGCCGGTGTGGCGCAGCCACCC
CCCCGTCAGGTTCTCAAACATTCCATCCCCCATTAAACGGTCGCTCACCGCACCCCCCCCACAC
CCCCACGCTAATCTTTCTGTCCCCATGGATTTGCTTATTTGGGATACTTCCTATAAAAAGAATC
GCACAACCTTGA

hide sequence

Protein Sequences


Protein RefSeqs	XP_020926704	(Get FASTA)	NCBI Sequence Viewer
	XP_020926705	(Get FASTA)	NCBI Sequence Viewer
	XP_020926706	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	ADX01260	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSSCP00000046337
	ENSSSCP00000046337.3
	ENSSSCP00000048950
	ENSSSCP00000048950.1
	ENSSSCP00025039080.1
	ENSSSCP00030000384.1
	ENSSSCP00030000386.1
	ENSSSCP00035010834.1
	ENSSSCP00035010836.1
	ENSSSCP00040037732.1
	ENSSSCP00040037812.1
	ENSSSCP00045022742.1
	ENSSSCP00045022833.1
	ENSSSCP00055029601.1
	ENSSSCP00065007000.1
	ENSSSCP00065007004.1

RefSeq Acc Id:	XP_020926705 ⟸ XM_021071046
- Peptide Label:	isoform X2
- UniProtKB:	A0A287AYK3 (UniProtKB/TrEMBL), A0A8D0UYJ6 (UniProtKB/TrEMBL), A0A8D1KHW4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPSETPQAEERAAGCPRLSAAHLRKGSLEKRPPGDKDTKEHLWISPDTPSRCLWQLGRPVTDSP HHHTTLAKSPQILPDILKKIGDTPMVRINKIGRRFGLKCELLAKCEFFNAGGSVKDRISLRMVE DAERAGTLKPGDTIIEPTSGNTGIGLALAAAVKGYRCIIVMPEKMSSEKVDVLRALGAEIVRTP TNARFDSPESHVGVAWRLRNEIPNSHILDQYRNASNPLAHYDITAEEILLQCNGKLDMLVASAG TGGTITGIARKLKEKCPGCKIIGVDPEGSVLAEPEELNQTEQTAYEVEGIGYDFIPTVLDRSVV DKWFKSNDEEAFAFARMLIAQEGLLCGGSAGSAMSVAVKAAQELQEGQRCVVILPDSVRNYMSK FLSDKWMLQKGFMKEEDLSVKKPWWWHLRVQELSLSAPLTVLPTVTCEHTIEILREKGFDQAPV VDESGVVLGMVTLGNMLSSLLAGKIQPSDQVRKVIYKQFKQIRLTDPLGKLSHILEMDHFALVV HEQIQYHSHGESSKRQMVFGVVTAIDLLNFVAARERIQKTKPGSALDARGAGAAAQS hide sequence

RefSeq Acc Id:	XP_020926706 ⟸ XM_021071047
- Peptide Label:	isoform X2
- UniProtKB:	A0A287AYK3 (UniProtKB/TrEMBL), A0A8D0UYJ6 (UniProtKB/TrEMBL), A0A8D1KHW4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPSETPQAEERAAGCPRLSAAHLRKGSLEKRPPGDKDTKEHLWISPDTPSRCLWQLGRPVTDSP HHHTTLAKSPQILPDILKKIGDTPMVRINKIGRRFGLKCELLAKCEFFNAGGSVKDRISLRMVE DAERAGTLKPGDTIIEPTSGNTGIGLALAAAVKGYRCIIVMPEKMSSEKVDVLRALGAEIVRTP TNARFDSPESHVGVAWRLRNEIPNSHILDQYRNASNPLAHYDITAEEILLQCNGKLDMLVASAG TGGTITGIARKLKEKCPGCKIIGVDPEGSVLAEPEELNQTEQTAYEVEGIGYDFIPTVLDRSVV DKWFKSNDEEAFAFARMLIAQEGLLCGGSAGSAMSVAVKAAQELQEGQRCVVILPDSVRNYMSK FLSDKWMLQKGFMKEEDLSVKKPWWWHLRVQELSLSAPLTVLPTVTCEHTIEILREKGFDQAPV VDESGVVLGMVTLGNMLSSLLAGKIQPSDQVRKVIYKQFKQIRLTDPLGKLSHILEMDHFALVV HEQIQYHSHGESSKRQMVFGVVTAIDLLNFVAARERIQKTKPGSALDARGAGAAAQS hide sequence

RefSeq Acc Id:	XP_020926704 ⟸ XM_021071045
- Peptide Label:	isoform X1
- UniProtKB:	A0A8D1KHW4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGKEFCWMEEPSPHGQDSASRGHFFKDPGMPSETPQAEERAAGCPRLSAAHLRKGSLEKRPPGD KDTKEHLWISPDTPSRCLWQLGRPVTDSPHHHTTLAKSPQILPDILKKIGDTPMVRINKIGRRF GLKCELLAKCEFFNAGGSVKDRISLRMVEDAERAGTLKPGDTIIEPTSGNTGIGLALAAAVKGY RCIIVMPEKMSSEKVDVLRALGAEIVRTPTNARFDSPESHVGVAWRLRNEIPNSHILDQYRNAS NPLAHYDITAEEILLQCNGKLDMLVASAGTGGTITGIARKLKEKCPGCKIIGVDPEGSVLAEPE ELNQTEQTAYEVEGIGYDFIPTVLDRSVVDKWFKSNDEEAFAFARMLIAQEGLLCGGSAGSAMS VAVKAAQELQEGQRCVVILPDSVRNYMSKFLSDKWMLQKGFMKEEDLSVKKPWWWHLRVQELSL SAPLTVLPTVTCEHTIEILREKGFDQAPVVDESGVVLGMVTLGNMLSSLLAGKIQPSDQVRKVI YKQFKQIRLTDPLGKLSHILEMDHFALVVHEQIQYHSHGESSKRQMVFGVVTAIDLLNFVAARE RIQKTKPGSALDARGAGAAAQS hide sequence

Ensembl Acc Id:

ENSSSCP00000046337 ⟸ ENSSSCT00000036696

Ensembl Acc Id:

ENSSSCP00000048950 ⟸ ENSSSCT00000062702

Protein Domains

CBS

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSSCG00000040779	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
	ENSSSCG00025065041	UniProtKB/TrEMBL
	ENSSSCG00030000547	UniProtKB/TrEMBL
	ENSSSCG00035021572	UniProtKB/TrEMBL
	ENSSSCG00040063087	UniProtKB/TrEMBL
	ENSSSCG00045019288	UniProtKB/TrEMBL
	ENSSSCG00055019033	UniProtKB/TrEMBL
	ENSSSCG00065012822	UniProtKB/TrEMBL
Ensembl Transcript	ENSSSCT00000036696	ENTREZGENE
	ENSSSCT00000036696.3	UniProtKB/TrEMBL
	ENSSSCT00000062702	ENTREZGENE
	ENSSSCT00000062702.2	UniProtKB/TrEMBL
	ENSSSCT00025089331.1	UniProtKB/TrEMBL
	ENSSSCT00030000765.1	UniProtKB/TrEMBL
	ENSSSCT00030000771.1	UniProtKB/TrEMBL
	ENSSSCT00035028149.1	UniProtKB/TrEMBL
	ENSSSCT00035028154.1	UniProtKB/TrEMBL
	ENSSSCT00040086100.1	UniProtKB/TrEMBL
	ENSSSCT00040086246.1	UniProtKB/TrEMBL
	ENSSSCT00045032817.1	UniProtKB/TrEMBL
	ENSSSCT00045032932.1	UniProtKB/TrEMBL
	ENSSSCT00055037261.1	UniProtKB/TrEMBL
	ENSSSCT00065017100.1	UniProtKB/TrEMBL
	ENSSSCT00065017111.1	UniProtKB/TrEMBL
Gene3D-CATH	3.10.580.10	UniProtKB/TrEMBL
	3.40.50.1100	UniProtKB/TrEMBL
InterPro	CBS_C	UniProtKB/TrEMBL
	CBS_dom	UniProtKB/TrEMBL
	CBS_dom_sf	UniProtKB/TrEMBL
	Cys_Synth/Cystath_Beta-Synth	UniProtKB/TrEMBL
	Cysta_beta_synth	UniProtKB/TrEMBL
	P-phosphate_BS	UniProtKB/TrEMBL
	PLP-dep	UniProtKB/TrEMBL
	Trypto_synt_PLP_dependent	UniProtKB/TrEMBL
NCBI Gene	CBS	ENTREZGENE
PANTHER	CYSTATHIONINE BETA-SYNTHASE	UniProtKB/TrEMBL
	CYSTATHIONINE BETA-SYNTHASE	UniProtKB/TrEMBL
Pfam	CBS	UniProtKB/TrEMBL
	PALP	UniProtKB/TrEMBL
PROSITE	CBS	UniProtKB/TrEMBL
	CYS_SYNTHASE	UniProtKB/TrEMBL
SMART	CBS	UniProtKB/TrEMBL
Superfamily-SCOP	SSF53686	UniProtKB/TrEMBL
	SSF54631	UniProtKB/TrEMBL
UniProt	A0A287AQV4_PIG	UniProtKB/TrEMBL
	A0A287AYK3	ENTREZGENE, UniProtKB/TrEMBL
	A0A8D0UYJ6	ENTREZGENE, UniProtKB/TrEMBL
	A0A8D0V4B1_PIG	UniProtKB/TrEMBL
	A0A8D0V4B7_PIG	UniProtKB/TrEMBL
	A0A8D0Z5L2_PIG	UniProtKB/TrEMBL
	A0A8D0Z6E4_PIG	UniProtKB/TrEMBL
	A0A8D1FPX7_PIG	UniProtKB/TrEMBL
	A0A8D1KHW4	ENTREZGENE, UniProtKB/TrEMBL
	A0A8D1KZA4_PIG	UniProtKB/TrEMBL
	V5IV84_PIG	UniProtKB/TrEMBL
VGNC ID	VGNC:109183	ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-07-16	CBS	cystathionine beta-synthase	CBS	cystathionine-beta-synthase	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 Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB