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COL22A1 collagen type XXII alpha 1 [ Homo sapiens (human) ]

Gene ID: 169044, updated on 7-May-2016
Official Symbol
COL22A1provided by HGNC
Official Full Name
collagen type XXII alpha 1provided by HGNC
Primary source
HGNC:HGNC:22989
See related
Ensembl:ENSG00000169436 HPRD:09885; MIM:610026; Vega:OTTHUMG00000150035
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
Summary
COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008]
Orthologs
Location:
8q24.3
Exon count:
70
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (138588235..138914094, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (139600478..139926236, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC401478 Neighboring gene family with sequence similarity 135 member B Neighboring gene uncharacterized LOC105375777 Neighboring gene potassium two pore domain channel subfamily K member 9 Neighboring gene trafficking protein particle complex 9 Neighboring gene uncharacterized LOC105375781

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of bronchodilator response in asthmatics.
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 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...
  • 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...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
collagen alpha-1(XXII) chain
Names
collagen, type XXII, alpha 1

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_152888.2NP_690848.1  collagen alpha-1(XXII) chain precursor

    See identical proteins and their annotated locations for NP_690848.1

    Status: VALIDATED

    Source sequence(s)
    AC068476, AF406780, BC144535, BX094632
    Consensus CDS
    CCDS6376.1
    UniProtKB/Swiss-Prot
    Q8NFW1
    Related
    ENSP00000303153, OTTHUMP00000196069, ENST00000303045, OTTHUMT00000315905
    Conserved Domains (3) summary
    pfam01391
    Location:654704
    Collagen; Collagen triple helix repeat (20 copies)
    cl00057
    Location:36219
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl22861
    Location:239426
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

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_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    138588235..138914094 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516886.1XP_011515188.1  

    Conserved Domains (3) summary
    pfam01391
    Location:625675
    Collagen; Collagen triple helix repeat (20 copies)
    cl00057
    Location:36190
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl22861
    Location:210397
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  2. XM_011516884.1XP_011515186.1  

    Related
    ENSP00000387655, ENST00000435777
    Conserved Domains (3) summary
    pfam01391
    Location:641691
    Collagen; Collagen triple helix repeat (20 copies)
    cl00057
    Location:36219
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl22861
    Location:239426
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  3. XM_011516885.1XP_011515187.1  

    Conserved Domains (3) summary
    pfam01391
    Location:654704
    Collagen; Collagen triple helix repeat (20 copies)
    cl00057
    Location:36219
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl22861
    Location:239426
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  4. XM_011516883.1XP_011515185.1  

    UniProtKB/Swiss-Prot
    Q8NFW1
    Conserved Domains (3) summary
    pfam01391
    Location:654704
    Collagen; Collagen triple helix repeat (20 copies)
    cl00057
    Location:36219
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl22861
    Location:239426
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  5. XM_011516887.1XP_011515189.1  

    Conserved Domains (2) summary
    pfam01391
    Location:312362
    Collagen; Collagen triple helix repeat (20 copies)
    cl22861
    Location:784
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  6. XM_011516889.1XP_011515191.1  

    Conserved Domains (1) summary
    pfam01391
    Location:106156
    Collagen; Collagen triple helix repeat (20 copies)
  7. XM_011516890.1XP_011515192.1  

    Conserved Domains (1) summary
    pfam01391
    Location:63113
    Collagen; Collagen triple helix repeat (20 copies)
  8. XM_011516888.1XP_011515190.1  

    Conserved Domains (3) summary
    pfam01391
    Location:654704
    Collagen; Collagen triple helix repeat (20 copies)
    cl00057
    Location:36219
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl22861
    Location:239426
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  9. XM_011516891.1XP_011515193.1  

    Conserved Domains (3) summary
    pfam01391
    Location:585635
    Collagen; Collagen triple helix repeat (20 copies)
    cl00057
    Location:36219
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cl22861
    Location:239426
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    139640714..139967048 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)