Gene CBS - ENSG00000160200 | NCBI Gene ID: 875

Details for: CBS

Gene ID: 875

Symbol: CBS

Ensembl ID: ENSG00000160200

Description: cystathionine beta-synthase

Associated with

Cysteine formation from homocysteine
(R-HSA-1614603)
Metabolism
(R-HSA-1430728)
Metabolism of amino acids and derivatives
(R-HSA-71291)
Metabolism of ingested semet, sec, mesec into h2se
(R-HSA-2408508)
Selenoamino acid metabolism
(R-HSA-2408522)
Sulfur amino acid metabolism
(R-HSA-1614635)
Blood vessel diameter maintenance
(GO:0097746)
Blood vessel remodeling
(GO:0001974)
Carbon monoxide binding
(GO:0070025)
Cartilage development involved in endochondral bone morphogenesis
(GO:0060351)
Cellular response to hypoxia
(GO:0071456)
Cerebellum morphogenesis
(GO:0021587)
Cystathionine beta-synthase activity
(GO:0004122)
Cysteine biosynthetic process
(GO:0019344)
Cysteine biosynthetic process from serine
(GO:0006535)
Cysteine biosynthetic process via cystathionine
(GO:0019343)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Dna protection
(GO:0042262)
Endochondral ossification
(GO:0001958)
Enzyme binding
(GO:0019899)
Heme binding
(GO:0020037)
Homocysteine catabolic process
(GO:0043418)
Homocysteine metabolic process
(GO:0050667)
Hydrogen sulfide biosynthetic process
(GO:0070814)
Identical protein binding
(GO:0042802)
L-cysteine catabolic process
(GO:0019448)
L-serine catabolic process
(GO:0006565)
L-serine metabolic process
(GO:0006563)
Maternal process involved in female pregnancy
(GO:0060135)
Metal ion binding
(GO:0046872)
Modified amino acid binding
(GO:0072341)
Negative regulation of apoptotic process
(GO:0043066)
Nitric oxide binding
(GO:0070026)
Nitrite reductase (no-forming) activity
(GO:0050421)
Nucleus
(GO:0005634)
Oxygen binding
(GO:0019825)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Pyridoxal phosphate binding
(GO:0030170)
Regulation of nitric oxide mediated signal transduction
(GO:0010749)
Response to folic acid
(GO:0051593)
S-adenosyl-l-methionine binding
(GO:1904047)
Superoxide metabolic process
(GO:0006801)
Transsulfuration
(GO:0019346)
Ubiquitin protein ligase binding
(GO:0031625)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: OFF-bipolar cell (CL0000750)
Fold Change: 5.83
Marker Score: 17290
Cell Name: retina horizontal cell (CL0000745)
Fold Change: 4.11
Marker Score: 3939.5
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 3.69
Marker Score: 6986
Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: 2.38
Marker Score: 20092.5
Cell Name: blood vessel endothelial cell (CL0000071)
Fold Change: 2.18
Marker Score: 2189
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 2.16
Marker Score: 4399
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 1.97
Marker Score: 1186
Cell Name: T-helper 17 cell (CL0000899)
Fold Change: 1.82
Marker Score: 1193
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.61
Marker Score: 1171
Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 1.42
Marker Score: 310
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.4
Marker Score: 21895
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.37
Marker Score: 871
Cell Name: acinar cell (CL0000622)
Fold Change: 1.33
Marker Score: 941
Cell Name: hepatoblast (CL0005026)
Fold Change: 1.33
Marker Score: 4365
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 1.26
Marker Score: 856
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 1.13
Marker Score: 540
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71826
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48050
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.99
Marker Score: 508
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30407
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.98
Marker Score: 462
Cell Name: neural progenitor cell (CL0011020)
Fold Change: 0.98
Marker Score: 3784
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.97
Marker Score: 403
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2412
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5351
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.93
Marker Score: 373
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2739
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.9
Marker Score: 325
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.9
Marker Score: 398
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5286
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.85
Marker Score: 389.5
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.81
Marker Score: 620.5
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1267
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.78
Marker Score: 3267.5
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 703
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 396
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.7
Marker Score: 179
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.6
Marker Score: 385
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 447
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.56
Marker Score: 148
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.55
Marker Score: 231
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.53
Marker Score: 185
Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.5
Marker Score: 1432
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: 0.49
Marker Score: 548
Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 0.49
Marker Score: 273
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.46
Marker Score: 277
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.45
Marker Score: 4658
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: 0.44
Marker Score: 440
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 0.43
Marker Score: 250
Cell Name: mast cell (CL0000097)
Fold Change: 0.43
Marker Score: 247
Cell Name: stellate neuron (CL0000122)
Fold Change: 0.41
Marker Score: 2217
Cell Name: pancreatic D cell (CL0000173)
Fold Change: 0.37
Marker Score: 163
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.36
Marker Score: 240
Cell Name: basal cell (CL0000646)
Fold Change: 0.36
Marker Score: 462
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.34
Marker Score: 109
Cell Name: interneuron (CL0000099)
Fold Change: 0.34
Marker Score: 155
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.31
Marker Score: 316.5
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.31
Marker Score: 118
Cell Name: hepatocyte (CL0000182)
Fold Change: 0.3
Marker Score: 202
Cell Name: hepatic stellate cell (CL0000632)
Fold Change: 0.29
Marker Score: 111
Cell Name: erythrocyte (CL0000232)
Fold Change: 0.29
Marker Score: 162
Cell Name: erythroblast (CL0000765)
Fold Change: 0.29
Marker Score: 179
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 0.28
Marker Score: 225
Cell Name: cholangiocyte (CL1000488)
Fold Change: 0.27
Marker Score: 100
Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
Fold Change: 0.27
Marker Score: 1394
Cell Name: glial cell (CL0000125)
Fold Change: 0.26
Marker Score: 289
Cell Name: CNS interneuron (CL0000402)
Fold Change: 0.26
Marker Score: 123
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.25
Marker Score: 141
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.24
Marker Score: 8482
Cell Name: macroglial cell (CL0000126)
Fold Change: 0.24
Marker Score: 548
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: 0.24
Marker Score: 82
Cell Name: tracheal goblet cell (CL1000329)
Fold Change: 0.23
Marker Score: 663
Cell Name: granule cell (CL0000120)
Fold Change: 0.23
Marker Score: 1697
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.22
Marker Score: 64
Cell Name: melanocyte (CL0000148)
Fold Change: 0.22
Marker Score: 90
Cell Name: astrocyte (CL0000127)
Fold Change: 0.22
Marker Score: 191
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.22
Marker Score: 74
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.21
Marker Score: 208
Cell Name: neuroendocrine cell (CL0000165)
Fold Change: 0.21
Marker Score: 80
Cell Name: retinal ganglion cell (CL0000740)
Fold Change: 0.2
Marker Score: 250
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 0.2
Marker Score: 306
Cell Name: paneth cell (CL0000510)
Fold Change: 0.2
Marker Score: 138
Cell Name: exhausted T cell (CL0011025)
Fold Change: 0.19
Marker Score: 110
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.19
Marker Score: 4016
Cell Name: retinal cone cell (CL0000573)
Fold Change: 0.18
Marker Score: 528
Cell Name: pancreatic A cell (CL0000171)
Fold Change: 0.18
Marker Score: 178
Cell Name: chromaffin cell (CL0000166)
Fold Change: 0.18
Marker Score: 252
Cell Name: epithelial cell (CL0000066)
Fold Change: 0.17
Marker Score: 278
Cell Name: goblet cell (CL0000160)
Fold Change: 0.17
Marker Score: 1152
Cell Name: chondrocyte (CL0000138)
Fold Change: 0.17
Marker Score: 78
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.17
Marker Score: 42
Cell Name: taste receptor cell (CL0000209)
Fold Change: 0.17
Marker Score: 143
Cell Name: skeletal muscle satellite cell (CL0000594)
Fold Change: 0.16
Marker Score: 108
Cell Name: Schwann cell (CL0002573)
Fold Change: 0.16
Marker Score: 56
Cell Name: neuronal brush cell (CL0000555)
Fold Change: 0.16
Marker Score: 538
Cell Name: osteoblast (CL0000062)
Fold Change: 0.16
Marker Score: 86
Cell Name: pro-B cell (CL0000826)
Fold Change: 0.16
Marker Score: 150
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.15
Marker Score: 63
Cell Name: macrophage (CL0000235)
Fold Change: 0.15
Marker Score: 171
Cell Name: fibroblast (CL0000057)
Fold Change: 0.15
Marker Score: 148

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**Key characteristics:** * The CBS gene is located on chromosome 17q31.1. * It is a single-exon gene that encodes a protein of 226 amino acids. * The protein is a transmembrane protein that is expressed in both the nucleus and the cytoplasm. * It is a key enzyme in the biosynthesis of cystathionine from homocysteine. **Pathways and functions:** * The CBS gene is involved in the metabolism of cystathionine, a sulfur-containing amino acid that is involved in a variety of biological processes, including cell signaling, protein synthesis, and detoxification. * It is involved in the biosynthesis of selenocysteine from homocysteine. * It is also involved in the metabolism of other amino acids, including serine, threonine, and tryptophan. * The protein is a key regulator of cystathionine levels in the body. **Clinical significance:** * Mutations in the CBS gene have been linked to several human diseases, including homocystinuria, which is characterized by low levels of cystathionine in the blood. * CBS gene mutations can also cause other symptoms of homocystinuria, such as anemia, jaundice, and skin problems. * The development of new therapies for homocystinuria is an active area of research.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Q9NTF0_HUMAN
B7Z2D6_HUMAN

Genular Protein ID: 3308877615

Symbol: Q9NTF0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9NTF0

Database IDs:

Sequence Information:

Length: 475
Mass: 52487
Checksum: 3F5E2D613783A1EF
Sequence:

RPDILKKIGD TPMVRINKIG KKFGLKCELL AKCEFFNAGG SVKDRISLRM IEDAERDGTL 
KPGDTIIEPT SGNTGIGLAL AAAVRGYRCI IVMPEKMSSE KVDVLRALGA EIVRTPTNAR 
FDSPESHVGV AWRLKNEIPN SHILDQYRNA SNPLPHYDTT ADEILQQCDG KLDMLVASVG 
TGGTITGIAR KLKEKCPGCR IIGVDPEGSI LAEPEELNQT EQTTYEVEGI GYDFIPTVLD 
RTVVDKWFKS NDEEAFTLAR MLIAQEGLLC GGSAGSTVAV AVKAAQELQE GQRCVVILPD 
SVRNYMTKFL SDRWMLQKGF LKEEDLTEKK PWWWHLRVQE LGLSAPLTVL PTITCGHTIE 
ILREKGFDQA PVVDEAGVIL GMVTLGNMLS SLLAGKVQPS DQVGKVIYKQ FKQIRLTDTL 
GRLSHILEMD HFALVVHEQI QYHSTGKSSQ RQMVFGVVTA IDLLNFVAAQ ERDQK

Genular Protein ID: 900826943

Symbol: B7Z2D6_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z2D6

Database IDs:

Sequence Information:

Length: 508
Mass: 55874
Checksum: E65E8B0DE9CE6056
Sequence:

MPSETPQAEV GPTGCPHRSG PHHHTAPAKS PKILPDILKK IGDTPMVRIN KIGKKFGLKC 
ELLAKCEFFN AGGSVKDRIS LRMIEDAERD GTLKPGDTII EPTSGNTGIG LALAAAVRGY 
RCIIVMPEKM SSEKVDVLRA LGAEIVRTPT NARFDSPESH VGVAWRLKNE IPNSHILDQY 
RNASNPLAHY DTTADEILQQ CDGKLDMLVA SVGTGGTITG IARKLKEKCP GCRIIGVDPE 
GSILAEPEEL NQTEQTTYEV EGIGYDFIPT VLDRTVVDKW FKSNDEEAFT FARMLIAQEG 
LLCGGSAGST VAVAVKAAQE LQEGQRCVVI LPDSVRNYMT KFLSDRWMLQ KGFLKEEDLT 
EKKPWWWHLR VQELGLSAPL TVLPTITCGH TIEILREKGF DQAPVVDEAG VILGMVTLGN 
MLSSLLAGKV QPSDQVGKVI YKQFKQIRLT DTLGRLSHIL EMDHFALVVH EQIQYHSTGK 
SSQRQMVFGV VTAIDLLNFV AAQERDQK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.