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

Gene ID: 169044, updated on 13-Mar-2020

Summary

Official Symbol
COL22A1provided by HGNC
Official Full Name
collagen type XXII alpha 1 chainprovided by HGNC
Primary source
HGNC:HGNC:22989
See related
Ensembl:ENSG00000169436 MIM:610026
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
Summary
This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]
Expression
Biased expression in adrenal (RPKM 3.6), prostate (RPKM 1.2) and 7 other tissues See more
Orthologs

Genomic context

See COL22A1 in Genome Data Viewer
Location:
8q24.23-q24.3
Exon count:
70
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (138588235..138914087, 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 Sharpr-MPRA regulatory region 3511 Neighboring gene Sharpr-MPRA regulatory region 9382

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
collagen alpha-1(XXII) chain

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_054761.1 RefSeqGene

    Range
    5047..330853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152888.3NP_690848.1  collagen alpha-1(XXII) chain precursor

    See identical proteins and their annotated locations for NP_690848.1

    Status: REVIEWED

    Source sequence(s)
    AC068476, AF406780, BC144535, BX094632
    Consensus CDS
    CCDS6376.1
    UniProtKB/Swiss-Prot
    Q8NFW1
    Related
    ENSP00000303153.6, ENST00000303045.11
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    138588235..138914087 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013150.2XP_016868639.1  collagen alpha-1(XXII) chain isoform X5

  2. XM_011516886.3XP_011515188.1  collagen alpha-1(XXII) chain isoform X4

    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 ...
  3. XM_011516884.2XP_011515186.1  collagen alpha-1(XXII) chain isoform X2

    Related
    ENSP00000387655.2, ENST00000435777.2
    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 ...
  4. XM_017013151.1XP_016868640.1  collagen alpha-1(XXII) chain isoform X6

  5. XM_011516885.2XP_011515187.1  collagen alpha-1(XXII) chain isoform X3

    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 ...
  6. XM_011516883.2XP_011515185.1  collagen alpha-1(XXII) chain isoform X1

    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 ...
  7. XM_011516887.2XP_011515189.1  collagen alpha-1(XXII) chain isoform X7

    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 ...
  8. XM_017013152.1XP_016868641.1  collagen alpha-1(XXII) chain isoform X7

    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 ...
  9. XM_011516889.2XP_011515191.1  collagen alpha-1(XXII) chain isoform X9

    Conserved Domains (1) summary
    pfam01391
    Location:106156
    Collagen; Collagen triple helix repeat (20 copies)
  10. XM_011516888.2XP_011515190.1  collagen alpha-1(XXII) chain isoform X8

    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 ...

RNA

  1. XR_001745487.1 RNA Sequence

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