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

Gene ID: 51380, updated on 8-May-2016
Official Symbol
CSADprovided by HGNC
Official Full Name
cysteine sulfinic acid decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:18966
See related
Ensembl:ENSG00000139631 HPRD:16763; MIM:616569; Vega:OTTHUMG00000048076
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]
Orthologs
Location:
12q13.11-q14.3
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (53157663..53180909, 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

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Degradation of cysteine and homocysteine, organism-specific biosystem (from REACTOME)
    Degradation of cysteine and homocysteine, organism-specific biosystemWhile in humans excess methionine is converted to homocysteine, homocysteine and its transsulfuration product cysteine can be degraded to several end products, two of which, taurine and hydrogen sulf...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • Sulfur amino acid metabolism, organism-specific biosystem (from REACTOME)
    Sulfur amino acid metabolism, organism-specific biosystemThe main sulfur amino acids are methionine, cysteine, homocysteine and taurine. Of these, the first two are proteinogenic.This group of reactions contains all processes that 1) break down sulfur amin...
  • Taurine and hypotaurine metabolism, organism-specific biosystem (from KEGG)
    Taurine and hypotaurine metabolism, organism-specific biosystem
    Taurine and hypotaurine metabolism
  • Taurine and hypotaurine metabolism, conserved biosystem (from KEGG)
    Taurine and hypotaurine metabolism, conserved biosystem
    Taurine and hypotaurine metabolism
  • Trans-sulfuration pathway, organism-specific biosystem (from WikiPathways)
    Trans-sulfuration pathway, organism-specific biosystemTrans-sulfuration pathway, the pathway of production of GSH from S-adenosylmethionine (SAMe). Evidences have been showed that this pathway was perturbed in liver toxicity studies.
  • taurine biosynthesis, organism-specific biosystem (from BIOCYC)
    taurine biosynthesis, organism-specific biosystemGeneral Background : TAURINE "Taurine" is an abundant free amino acid in mammals that takes part in many functions, including bile salt synthesis, calcium modulation, and neuroinhibition in the cent...
  • taurine biosynthesis, conserved biosystem (from BIOCYC)
    taurine biosynthesis, conserved biosystem|FRAME: TAURINE Taurine| is an abundant free amino sulfonic acid in mammals that takes part in many functions, including bile salt synthesis, calcium modulation, and neuroinhibition in the central ne...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ44987, FLJ45500, MGC119354, MGC119355, MGC119357

Gene Ontology Provided by GOA

Function Evidence Code Pubs
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
sulfinoalanine decarboxylase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carboxylic acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
taurine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cysteine sulfinic acid decarboxylase
Names
P-selectin cytoplasmic tail-associated protein
cysteine sulfinic acid decarboxylase-related protein
cysteine-sulfinate decarboxylase
sulfinoalanine decarboxylase
NP_001231634.1
NP_001231635.1
NP_057073.4

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_001244705.1NP_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, OTTHUMP00000209623, ENST00000444623, OTTHUMT00000343697
    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_015989.4NP_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, OTTHUMP00000045735, ENST00000267085, OTTHUMT00000109403
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    53157663..53180909 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538444.1XP_011536746.1  

    See identical proteins and their annotated locations for XP_011536746.1

    Conserved Domains (1) summary
    cd06450
    Location:116579
    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_011538443.1XP_011536745.1  

    See identical proteins and their annotated locations for XP_011536745.1

    Conserved Domains (1) summary
    cd06450
    Location:116579
    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_011538446.1XP_011536748.1  

    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 ...
  4. XM_011538445.1XP_011536747.1  

    Conserved Domains (1) summary
    cd06450
    Location:89552
    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_011538442.1XP_011536744.1  

    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_011538451.1XP_011536753.1  

    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 ...
  7. XM_011538448.1XP_011536750.1  

    Related
    ENSP00000369175, OTTHUMP00000045733, ENST00000379846, OTTHUMT00000109401
    Conserved Domains (1) summary
    cl18945
    Location:7308
    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 ...
  8. XM_011538449.1XP_011536751.1  

    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 ...
  9. XM_011538450.1XP_011536752.1  

    See identical proteins and their annotated locations for XP_011536752.1

    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 ...
  10. XM_011538447.1XP_011536749.1  

    Conserved Domains (1) summary
    cl18945
    Location:89337
    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 ...

RNA

  1. XR_944573.1 RNA Sequence

  2. XR_944570.1 RNA Sequence

  3. XR_944571.1 RNA Sequence

  4. XR_944572.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    53517875..53541124 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)