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

Gene ID: 51380, updated on 1-Jun-2020

Summary

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
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

Genomic context

See CSAD in Genome Data Viewer
Location:
12q13.13
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (53157663..53181663, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53551447..53575422, 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 zinc finger protein 740 Neighboring gene integrin subunit beta 7 Neighboring gene retinoic acid receptor gamma

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44987, FLJ45500, MGC119354, MGC119355, MGC119357

Gene Ontology Provided by GOA

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

General protein information

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_011536744.2
XP_011536748.1
XP_011536751.1
XP_011536753.1
XP_016874905.1
XP_016874906.1
XP_016874907.1
XP_016874908.1
XP_024304779.1
XP_024304780.1
XP_024304781.1
XP_024304782.1
XP_024304783.1

NCBI Reference Sequences (RefSeq)

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
    5264..28247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001244705.2NP_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
    Q9Y600
    UniProtKB/TrEMBL
    A0A024RAX7, Q86V02
    Related
    ENSP00000415485.1, ENST00000444623.5
    Conserved Domains (1) summary
    cd06450
    Location:89489
    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_001244706.1NP_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:2256
    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_015989.5NP_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/Swiss-Prot
    Q9Y600
    Related
    ENSP00000267085.3, ENST00000267085.8
    Conserved Domains (1) summary
    cd06450
    Location:116516
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    53157663..53181663 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449011.1XP_024304779.1  cysteine sulfinic acid decarboxylase isoform X1

    Conserved Domains (1) summary
    cd06450
    Location:185616
    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. XM_024449012.1XP_024304780.1  cysteine sulfinic acid decarboxylase isoform X2

    Conserved Domains (1) summary
    cd06450
    Location:185585
    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 ...
  3. XM_024449015.1XP_024304783.1  cysteine sulfinic acid decarboxylase isoform X6

    Related
    ENSP00000410648.2, ENST00000453446.6
    Conserved Domains (1) summary
    cd06450
    Location:89489
    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 ...
  4. XM_024449014.1XP_024304782.1  cysteine sulfinic acid decarboxylase isoform X6

    Related
    ENSP00000369179.3, ENST00000379850.7
    Conserved Domains (1) summary
    cd06450
    Location:89489
    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 ...
  5. XM_024449013.1XP_024304781.1  cysteine sulfinic acid decarboxylase isoform X4

    Conserved Domains (1) summary
    cd06450
    Location:89520
    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 ...
  6. XM_011538446.3XP_011536748.1  cysteine sulfinic acid decarboxylase isoform X5

    See identical proteins and their annotated locations for XP_011536748.1

    UniProtKB/Swiss-Prot
    Q9Y600
    Conserved Domains (1) summary
    cd06450
    Location:116516
    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_011538442.2XP_011536744.2  cysteine sulfinic acid decarboxylase isoform X3

  8. XM_017019416.2XP_016874905.1  cysteine sulfinic acid decarboxylase isoform X7

  9. XM_011538451.1XP_011536753.1  cysteine sulfinic acid decarboxylase isoform X9

    See identical proteins and their annotated locations for XP_011536753.1

    Conserved Domains (1) summary
    cl18945
    Location:1271
    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 ...
  10. XM_017019417.1XP_016874906.1  cysteine sulfinic acid decarboxylase isoform X8

    Conserved Domains (1) summary
    cl18945
    Location:35289
    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 ...
  11. XM_017019418.1XP_016874907.1  cysteine sulfinic acid decarboxylase isoform X9

    Conserved Domains (1) summary
    cl18945
    Location:1271
    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_011538449.1XP_011536751.1  cysteine sulfinic acid decarboxylase isoform X8

    See identical proteins and their annotated locations for XP_011536751.1

    Conserved Domains (1) summary
    cl18945
    Location:35289
    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 ...
  13. XM_017019419.1XP_016874908.1  cysteine sulfinic acid decarboxylase isoform X10

RNA

  1. XR_001748744.2 RNA Sequence

  2. XR_002957336.1 RNA Sequence

  3. XR_002957335.1 RNA Sequence

  4. XR_001748743.2 RNA Sequence

  5. XR_001748742.2 RNA Sequence

  6. XR_001748745.2 RNA Sequence

  7. XR_944571.3 RNA Sequence

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