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    ECSIT ECSIT signaling integrator [ Homo sapiens (human) ]

    Gene ID: 51295, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:29548
    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
    Summary
    Predicted to enable DNA-binding transcription factor activity and chromatin binding activity. Involved in regulation of oxidoreductase activity and regulation of protein complex stability. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 25.2), ovary (RPKM 18.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ECSIT in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11505929..11529134, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11633432..11656636, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11616744..11639949, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11563051-11563821 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11564685-11564866 Neighboring gene ELAV like RNA binding protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11590379-11590573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10113 Neighboring gene zinc finger protein 653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10114 Neighboring gene microRNA 7974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11618272-11619049 Neighboring gene RNA, 7SL, cytoplasmic 833, pseudogene Neighboring gene ribosomal protein L18a pseudogene 13 Neighboring gene ribosomal protein S12 pseudogene 32 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11648637-11649582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14022 Neighboring gene calponin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11662408-11663379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14024 Neighboring gene elongation factor 1

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      E9PAN9, K7EMM0, Q96HQ7, Q9BQ95, Q9NYI1
      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: 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_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11633432..11656636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)