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ISYNA1 inositol-3-phosphate synthase 1 [ Homo sapiens (human) ]

Gene ID: 51477, updated on 4-Nov-2018

Summary

Official Symbol
ISYNA1provided by HGNC
Official Full Name
inositol-3-phosphate synthase 1provided by HGNC
Primary source
HGNC:HGNC:29821
See related
Ensembl:ENSG00000105655 MIM:611670; Vega:OTTHUMG00000179027
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
IPS; INO1; INOS; IPS 1; IPS-1
Summary
This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]
Expression
Broad expression in testis (RPKM 72.6), placenta (RPKM 57.0) and 14 other tissues See more
Orthologs

Genomic context

See ISYNA1 in Genome Data Viewer
Location:
19p13.11
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (18434388..18438649, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18545198..18549111, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene growth differentiation factor 15 Neighboring gene microRNA 3189 Neighboring gene leucine rich repeat containing 25 Neighboring gene single stranded DNA binding protein 4 Neighboring gene elongation factor for RNA polymerase II Neighboring gene FKBP prolyl isomerase 8

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
inositol-3-phosphate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol-3-phosphate synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
inositol-3-phosphate synthase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
inositol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
phospholipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
inositol-3-phosphate synthase 1
Names
MI-1-P synthase
MIP synthase
myo-inositol 1-phosphate synthase A1
testis secretory sperm-binding protein Li 200a
NP_001164409.1
NP_001240318.1
NP_057452.1
XP_011526361.1
XP_024307304.1
XP_024307305.1
XP_024307306.1

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_031809.1 RefSeqGene

    Range
    5001..8914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170938.1NP_001164409.1  inositol-3-phosphate synthase 1 isoform 2

    See identical proteins and their annotated locations for NP_001164409.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AI983065, AK092179, BC018952, BP392170, DC371373
    Consensus CDS
    CCDS54234.1
    UniProtKB/Swiss-Prot
    Q9NPH2
    Related
    ENSP00000415458.3, OTTHUMP00000260564, ENST00000457269.8, OTTHUMT00000444470
    Conserved Domains (1) summary
    pfam07994
    Location:34437
    NAD_binding_5; Myo-inositol-1-phosphate synthase
  2. NM_001253389.1NP_001240318.1  inositol-3-phosphate synthase 1 isoform 4

    See identical proteins and their annotated locations for NP_001240318.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) 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 (4) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI983065, AL137749, BP392170
    Consensus CDS
    CCDS62603.1
    UniProtKB/Swiss-Prot
    Q9NPH2
    Related
    ENSP00000475677.1, OTTHUMP00000273729, ENST00000578963.5, OTTHUMT00000444473
    Conserved Domains (1) summary
    pfam07994
    Location:1363
    NAD_binding_5; Myo-inositol-1-phosphate synthase
  3. NM_016368.4NP_057452.1  inositol-3-phosphate synthase 1 isoform 1

    See identical proteins and their annotated locations for NP_057452.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI983065, AK021526, BP392170, DC371373
    Consensus CDS
    CCDS12379.1
    UniProtKB/Swiss-Prot
    Q9NPH2
    UniProtKB/TrEMBL
    A0A140VK73
    Related
    ENSP00000337746.7, OTTHUMP00000260563, ENST00000338128.12, OTTHUMT00000444469
    Conserved Domains (1) summary
    cl00554
    Location:7507
    NAD_binding_5; Myo-inositol-1-phosphate synthase

RNA

  1. NR_045573.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI983065, AK296022, BP392170, DC371373
  2. NR_045574.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two exons in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI983065, AK093461, AL137749, BP392170, DA615868, DB244754
    Related
    ENST00000582811.6, OTTHUMT00000444468

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    18434388..18438649 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451536.1XP_024307304.1  inositol-3-phosphate synthase 1 isoform X1

    Conserved Domains (1) summary
    pfam07994
    Location:266618
    NAD_binding_5; Myo-inositol-1-phosphate synthase
  2. XM_011528059.2XP_011526361.1  inositol-3-phosphate synthase 1 isoform X3

    Conserved Domains (1) summary
    cl00554
    Location:7575
    NAD_binding_5; Myo-inositol-1-phosphate synthase
  3. XM_024451538.1XP_024307306.1  inositol-3-phosphate synthase 1 isoform X4

    Conserved Domains (1) summary
    cl00554
    Location:7540
    NAD_binding_5; Myo-inositol-1-phosphate synthase
  4. XM_024451537.1XP_024307305.1  inositol-3-phosphate synthase 1 isoform X2

    Conserved Domains (1) summary
    cl00554
    Location:7608
    NAD_binding_5; Myo-inositol-1-phosphate synthase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001170939.1: Suppressed sequence

    Description
    NM_001170939.1: This RefSeq was permanently suppressed because currently there is insufficient support for the protein.
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