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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
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Genomic context

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See CSAD in Genome Data Viewer
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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