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ECSIT ECSIT signaling integrator [ Homo sapiens (human) ]

Gene ID: 51295, updated on 22-Nov-2020

Summary

Official Symbol
ECSITprovided by HGNC
Official Full Name
ECSIT signaling integratorprovided by HGNC
Primary source
HGNC:HGNC:29548
See related
Ensembl:ENSG00000130159 MIM:608388
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SITPEC
Expression
Ubiquitous expression in heart (RPKM 25.2), ovary (RPKM 18.4) and 25 other tissues See more
Orthologs

Genomic context

See ECSIT in Genome Data Viewer
Location:
19p13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (11505929..11529134, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11616731..11639987, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ELAV like RNA binding protein 3 Neighboring gene zinc finger protein 653 Neighboring gene microRNA 7974 Neighboring gene RNA, 7SL, cytoplasmic 833, pseudogene Neighboring gene ribosomal protein L18a pseudogene 13 Neighboring gene ribosomal protein S12 pseudogene 32 Neighboring gene calponin 1 Neighboring gene elongation factor 1 homolog

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
innate immune response IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
regulation of oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein complex stability IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
Names
ECSIT homolog
ECSIT signalling integrator
likely ortholog of mouse signaling intermediate in Toll pathway evolutionarily conserved

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.

mRNA and Protein(s)

  1. NM_001142464.3NP_001135936.1  evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001135936.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC008279
    Consensus CDS
    CCDS45980.1
    UniProtKB/Swiss-Prot
    Q9BQ95
    Related
    ENSP00000252440.6, ENST00000252440.11
    Conserved Domains (2) summary
    sd00004
    Location:126171
    PPR; PPR repeat [structural motif]
    pfam06239
    Location:50266
    ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway
  2. NM_001142465.3NP_001135937.1  evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two consecutive exons in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AI743680, BE791936
    Consensus CDS
    CCDS45979.1
    UniProtKB/Swiss-Prot
    Q9BQ95
    Related
    ENSP00000412712.1, ENST00000417981.6
    Conserved Domains (1) summary
    pfam14784
    Location:55179
    ECIST_C; C-terminal domain of the ECSIT protein
  3. NM_001243204.2NP_001230133.1  evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 4 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI336311, AK314905, BU186092
    Consensus CDS
    CCDS59353.1
    UniProtKB/Swiss-Prot
    Q9BQ95
    Related
    ENSP00000466559.1, ENST00000591104.5
    Conserved Domains (2) summary
    sd00004
    Location:126171
    PPR; PPR repeat [structural motif]
    pfam06239
    Location:50265
    ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway
  4. NM_016581.5NP_057665.2  evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_057665.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC000193, BE791936
    Consensus CDS
    CCDS12262.1
    UniProtKB/Swiss-Prot
    Q9BQ95
    Related
    ENSP00000270517.6, ENST00000270517.12
    Conserved Domains (3) summary
    sd00004
    Location:126171
    PPR; PPR repeat [structural motif]
    pfam06239
    Location:50266
    ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway
    pfam14784
    Location:269393
    ECSIT_C; C-terminal domain of the ECSIT protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    11505929..11529134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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