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    COL26A1 collagen type XXVI alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 136227, updated on 3-Jun-2018
    Official Symbol
    COL26A1provided by HGNC
    Official Full Name
    collagen type XXVI alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:18038
    See related
    Ensembl:ENSG00000160963 MIM:608927; Vega:OTTHUMG00000150033
    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
    EMI6; EMU2; SH2B; EMID2
    Summary
    This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
    Expression
    Biased expression in brain (RPKM 3.1), kidney (RPKM 1.3) and 9 other tissues See more
    Orthologs
    See COL26A1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (101362369..101559024)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (101006101..101202304)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927746 Neighboring gene intraflagellar transport 22 Neighboring gene uncharacterized LOC105379743 Neighboring gene long intergenic non-protein coding RNA 1007 Neighboring gene uncharacterized LOC107986832

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    NHGRI GWA Catalog
    Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.
    NHGRI GWA Catalog
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen chain trimerization, organism-specific biosystem (from REACTOME)
      Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
    • Collagen degradation, organism-specific biosystem (from REACTOME)
      Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC129848

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    positive regulation of cell-substrate adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular matrix HDA PubMed 
    extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    collagen alpha-1(XXVI) chain
    Names
    EMI domain containing 2
    collagen, type XXVI, alpha 1
    emilin and multimerin domain-containing protein 2

    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_033785.2 RefSeqGene

      Range
      5001..201205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278563.2NP_001265492.1  collagen alpha-1(XXVI) chain isoform 1 precursor

      See identical proteins and their annotated locations for NP_001265492.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ416091, BC085006, BC110393, BI549609, BU845945, CX163123
      Consensus CDS
      CCDS64739.1
      UniProtKB/Swiss-Prot
      Q96A83
      Related
      ENSP00000318234.8, OTTHUMP00000276056, ENST00000313669.11, OTTHUMT00000315898
      Conserved Domains (1) summary
      pfam07546
      Location:54122
      EMI; EMI domain
    2. NM_133457.4NP_597714.2  collagen alpha-1(XXVI) chain isoform 2 precursor

      See identical proteins and their annotated locations for NP_597714.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      BC085006, BC109254, BC110393, BI549609, BU845945, CX163123
      UniProtKB/Swiss-Prot
      Q96A83
      Related
      ENSP00000482102.1, OTTHUMP00000276057, ENST00000613501.1, OTTHUMT00000315897
      Conserved Domains (1) summary
      pfam07546
      Location:54120
      EMI; EMI domain

    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_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      101362369..101559024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011743.1XP_016867232.1  collagen alpha-1(XXVI) chain isoform X1

    2. XM_017011744.1XP_016867233.1  collagen alpha-1(XXVI) chain isoform X2

    3. XM_017011745.1XP_016867234.1  collagen alpha-1(XXVI) chain isoform X2

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