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    CSAD cysteine sulfinic acid decarboxylase [ Homo sapiens (human) ]

    Gene ID: 51380, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CSADprovided by HGNC
    Official Full Name
    cysteine sulfinic acid decarboxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:18966
    See related
    Ensembl:ENSG00000139631 MIM:616569; AllianceGenome:HGNC:18966
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSD; PCAP
    Summary
    This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
    Expression
    Ubiquitous expression in fat (RPKM 9.9), skin (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q13.13
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53157663..53181351, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53123259..53147240, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53551447..53574709, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 1 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53552337-53552837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53553211-53553838 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53559172-53559335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53565297-53565796 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:53568663-53569598 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:53573975-53574533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4496 Neighboring gene Sharpr-MPRA regulatory region 11900 Neighboring gene zinc finger protein 740 Neighboring gene Sharpr-MPRA regulatory region 11320 Neighboring gene integrin subunit beta 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53609063-53609836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53610051-53610664 Neighboring gene Sharpr-MPRA regulatory region 13987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4497 Neighboring gene retinoic acid receptor gamma Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4500

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning of murine cysteine sulfinic acid decarboxylase and its mRNA expression in murine tissues. Park E, et al. Biochim Biophys Acta, 2002 Apr 12. PMID 11997111
    2. Mechanism of cysteine-dependent inactivation of aspartate/glutamate/cysteine sulfinic acid α-decarboxylases. Liu P, et al. Amino Acids, 2013 Feb. PMID 22718265
    3. Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression. Winge I, et al. Neurochem Int, 2015 Nov. PMID 26327310
    4. Whole genome RNAi screens reveal a critical role of REV3 in coping with replication stress. Kotov IN, et al. Mol Oncol, 2014 Dec. PMID 25113059, Free PMC Article
    5. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. taurine biosynthesis in vertebrates involves two structurally related PLP-dependent decarboxylases (cysteine sulfinic acid decarboxylase and glutamic acid decarboxylase like 1)
      Title: Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression.
    2. The presence of cysteine inhibited ADC, CSAD and GDC activity.
      Title: Mechanism of cysteine-dependent inactivation of aspartate/glutamate/cysteine sulfinic acid α-decarboxylases.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44987, FLJ45500, MGC119354, MGC119355, MGC119357

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aspartate 1-decarboxylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sulfinoalanine decarboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sulfinoalanine decarboxylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-cysteine catabolic process to hypotaurine ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in L-cysteine catabolic process to taurine ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in taurine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in taurine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cysteine sulfinic acid decarboxylase
    Names
    P-selectin cytoplasmic tail-associated protein
    aspartate 1-decarboxylase
    cysteine sulfinic acid decarboxylase-related protein
    cysteine-sulfinate decarboxylase
    sulfinoalanine decarboxylase
    NP_001231634.1
    NP_001231635.1
    NP_057073.4
    XP_011536751.1
    XP_024304779.2
    XP_024304780.2
    XP_024304781.1
    XP_024304782.1
    XP_047284913.1
    XP_047284914.1
    XP_047284915.1
    XP_047284916.1
    XP_047284917.1
    XP_047284918.1
    XP_047284919.1
    XP_047284920.1
    XP_047284921.1
    XP_047284922.1
    XP_054228176.1
    XP_054228177.1
    XP_054228178.1
    XP_054228179.1
    XP_054228180.1
    XP_054228181.1
    XP_054228182.1
    XP_054228183.1
    XP_054228184.1
    XP_054228185.1
    XP_054228186.1
    XP_054228187.1
    XP_054228188.1
    XP_054228189.1
    XP_054228190.1
    XP_054228191.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030036.1 RefSeqGene

      Range
      4985..28247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244705.2 → NP_001231634.1  cysteine sulfinic acid decarboxylase isoform 2

      See identical proteins and their annotated locations for NP_001231634.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC073573, BC052249, BQ028782
      Consensus CDS
      CCDS58235.1
      UniProtKB/Swiss-Prot
      A8K0U4, Q4QQH9, Q9UNJ5, Q9Y600, Q9Y601
      UniProtKB/TrEMBL
      B2RCT5
      Related
      ENSP00000415485.1, ENST00000444623.6
      Conserved Domains (1) summary
      cd06450
      Location:89 → 489
      DOPA_deC_like; DOPA decarboxylase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to DOPA/tyrosine decarboxylase (DDC), histidine decarboxylase (HDC), and ...

    2. NM_001244706.2 → NP_001231635.1  cysteine sulfinic acid decarboxylase isoform 3

      See identical proteins and their annotated locations for NP_001231635.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AB044561, BQ028782
      UniProtKB/TrEMBL
      Q96JQ3
      Conserved Domains (1) summary
      cl18945
      Location:2 → 256
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

    3. NM_015989.5 → NP_057073.4  cysteine sulfinic acid decarboxylase isoform 1

      See identical proteins and their annotated locations for NP_057073.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF116548, AV655618, BC099717, DA687716
      Consensus CDS
      CCDS8848.2
      UniProtKB/TrEMBL
      J3KPG9
      Related
      ENSP00000267085.3, ENST00000267085.8
      Conserved Domains (1) summary
      cd06450
      Location:116 → 516
      DOPA_deC_like; DOPA decarboxylase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to DOPA/tyrosine decarboxylase (DDC), histidine decarboxylase (HDC), and ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53157663..53181351 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449012.2 → XP_024304780.2  cysteine sulfinic acid decarboxylase isoform X3

      UniProtKB/Swiss-Prot
      A8K0U4, Q4QQH9, Q9UNJ5, Q9Y600, Q9Y601

    2. XM_024449011.2 → XP_024304779.2  cysteine sulfinic acid decarboxylase isoform X2

    3. XM_047428957.1 → XP_047284913.1  cysteine sulfinic acid decarboxylase isoform X1

    4. XM_047428961.1 → XP_047284917.1  cysteine sulfinic acid decarboxylase isoform X5

    5. XM_047428959.1 → XP_047284915.1  cysteine sulfinic acid decarboxylase isoform X4

    6. XM_024449014.2 → XP_024304782.1  cysteine sulfinic acid decarboxylase isoform X3

      UniProtKB/Swiss-Prot
      A8K0U4, Q4QQH9, Q9UNJ5, Q9Y600, Q9Y601
      UniProtKB/TrEMBL
      B2RCT5
      Related
      ENSP00000410648.2, ENST00000453446.6
      Conserved Domains (1) summary
      cd06450
      Location:89 → 489
      DOPA_deC_like; DOPA decarboxylase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to DOPA/tyrosine decarboxylase (DDC), histidine decarboxylase (HDC), and ...

    7. XM_024449013.2 → XP_024304781.1  cysteine sulfinic acid decarboxylase isoform X2

      UniProtKB/TrEMBL
      B2RCT5
      Conserved Domains (1) summary
      cd06450
      Location:89 → 520
      DOPA_deC_like; DOPA decarboxylase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to DOPA/tyrosine decarboxylase (DDC), histidine decarboxylase (HDC), and ...

    8. XM_047428960.1 → XP_047284916.1  cysteine sulfinic acid decarboxylase isoform X1

    9. XM_047428958.1 → XP_047284914.1  cysteine sulfinic acid decarboxylase isoform X4

    10. XM_047428962.1 → XP_047284918.1  cysteine sulfinic acid decarboxylase isoform X6

    11. XM_011538449.1 → XP_011536751.1  cysteine sulfinic acid decarboxylase isoform X9

      See identical proteins and their annotated locations for XP_011536751.1

      Conserved Domains (1) summary
      cl18945
      Location:35 → 289
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

    12. XM_047428966.1 → XP_047284922.1  cysteine sulfinic acid decarboxylase isoform X10

    13. XM_047428964.1 → XP_047284920.1  cysteine sulfinic acid decarboxylase isoform X8

      Related
      ENSP00000369175.1, ENST00000379846.5

    14. XM_047428965.1 → XP_047284921.1  cysteine sulfinic acid decarboxylase isoform X9

    15. XM_047428963.1 → XP_047284919.1  cysteine sulfinic acid decarboxylase isoform X7

    RNA

    1. XR_007063086.1 RNA Sequence

    2. XR_007063087.1 RNA Sequence

    3. XR_007063085.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53123259..53147240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372201.1 → XP_054228176.1  cysteine sulfinic acid decarboxylase isoform X11

    2. XM_054372202.1 → XP_054228177.1  cysteine sulfinic acid decarboxylase isoform X12

    3. XM_054372203.1 → XP_054228178.1  cysteine sulfinic acid decarboxylase isoform X13

    4. XM_054372207.1 → XP_054228182.1  cysteine sulfinic acid decarboxylase isoform X5

    5. XM_054372205.1 → XP_054228180.1  cysteine sulfinic acid decarboxylase isoform X4

    6. XM_054372206.1 → XP_054228181.1  cysteine sulfinic acid decarboxylase isoform X2

    7. XM_054372208.1 → XP_054228183.1  cysteine sulfinic acid decarboxylase isoform X3

      UniProtKB/Swiss-Prot
      A8K0U4, Q4QQH9, Q9UNJ5, Q9Y600, Q9Y601

    8. XM_054372204.1 → XP_054228179.1  cysteine sulfinic acid decarboxylase isoform X4

    9. XM_054372209.1 → XP_054228184.1  cysteine sulfinic acid decarboxylase isoform X6

    10. XM_054372214.1 → XP_054228189.1  cysteine sulfinic acid decarboxylase isoform X9

    11. XM_054372216.1 → XP_054228191.1  cysteine sulfinic acid decarboxylase isoform X10

    12. XM_054372212.1 → XP_054228187.1  cysteine sulfinic acid decarboxylase isoform X8

    13. XM_054372215.1 → XP_054228190.1  cysteine sulfinic acid decarboxylase isoform X9

    14. XM_054372210.1 → XP_054228185.1  cysteine sulfinic acid decarboxylase isoform X14

    15. XM_054372211.1 → XP_054228186.1  cysteine sulfinic acid decarboxylase isoform X15

    16. XM_054372213.1 → XP_054228188.1  cysteine sulfinic acid decarboxylase isoform X16

    RNA

    1. XR_008488608.1 RNA Sequence

    2. XR_008488607.1 RNA Sequence

    3. XR_008488609.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y600.2 GenPept UniProtKB/Swiss-Prot:Q9Y600

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