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

Gene ID: 169044, updated on 7-Apr-2024

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; AllianceGenome:HGNC:22989
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
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Genomic context

See COL22A1 in Genome Data Viewer
Location:
8q24.23-q24.3
Exon count:
70
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (138588235..138914041, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (139706248..140033632, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (139600478..139926284, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC401478 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:138979816-138980380 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:139093353-139094000 Neighboring gene family with sequence similarity 135 member B Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:139357155-139357654 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:139555607-139556806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:139706354-139706854 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:139706855-139707355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:139782916-139783886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:139806119-139806619 Neighboring gene MPRA-validated peak7186 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:139860841-139861342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:139925385-139926230 Neighboring gene Sharpr-MPRA regulatory region 3511 Neighboring gene Sharpr-MPRA regulatory region 9382 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:139965113-139965801 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:139966492-139967180 Neighboring gene NANOG hESC enhancer GRCh37_chr8:140009858-140010359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140033795-140034296 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:140181537-140182736 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:140227217-140228416 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:140221580-140221764 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:140294263-140294817 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:140416894-140417542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19572 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:140440618-140441118 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:140441119-140441619 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:140471614-140472148 Neighboring gene Sharpr-MPRA regulatory region 3867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19573 Neighboring gene Sharpr-MPRA regulatory region 15097 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140748966-140749712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140762149-140762649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140784193-140784820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140842647-140843284 Neighboring gene Sharpr-MPRA regulatory region 11049 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:140850306-140850830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140850831-140851354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:140853452-140853976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140856599-140857122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:140860017-140860572 Neighboring gene potassium two pore domain channel subfamily K member 9 Neighboring gene uncharacterized LOC107986981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140875463-140876436 Neighboring gene trafficking protein particle complex subunit 9

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent conferring tensile strength IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
collagen alpha-1(XXII) chain

NCBI Reference Sequences (RefSeq)

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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
    B7ZMH0, C9K0G4, Q8IVT9, 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: 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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    138588235..138914041 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013150.3XP_016868639.1  collagen alpha-1(XXII) chain isoform X5

  2. XM_011516886.4XP_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_011516884.3XP_011515186.1  collagen alpha-1(XXII) chain isoform X2

    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_017013151.2XP_016868640.1  collagen alpha-1(XXII) chain isoform X6

  5. XM_011516885.3XP_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_011516883.3XP_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_017013152.2XP_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_011516889.3XP_011515191.1  collagen alpha-1(XXII) chain isoform X10

    Conserved Domains (1) summary
    pfam01391
    Location:106156
    Collagen; Collagen triple helix repeat (20 copies)
  10. XM_047421412.1XP_047277368.1  collagen alpha-1(XXII) chain isoform X9

  11. XM_011516888.3XP_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_001745487.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    139706248..140033632 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359877.1XP_054215852.1  collagen alpha-1(XXII) chain isoform X5

  2. XM_054359876.1XP_054215851.1  collagen alpha-1(XXII) chain isoform X4

  3. XM_054359874.1XP_054215849.1  collagen alpha-1(XXII) chain isoform X2

  4. XM_054359878.1XP_054215853.1  collagen alpha-1(XXII) chain isoform X6

  5. XM_054359875.1XP_054215850.1  collagen alpha-1(XXII) chain isoform X3

  6. XM_054359873.1XP_054215848.1  collagen alpha-1(XXII) chain isoform X1

  7. XM_054359879.1XP_054215854.1  collagen alpha-1(XXII) chain isoform X7

  8. XM_054359880.1XP_054215855.1  collagen alpha-1(XXII) chain isoform X7

  9. XM_054359883.1XP_054215858.1  collagen alpha-1(XXII) chain isoform X10

  10. XM_054359882.1XP_054215857.1  collagen alpha-1(XXII) chain isoform X9

  11. XM_054359881.1XP_054215856.1  collagen alpha-1(XXII) chain isoform X8

RNA

  1. XR_008487817.1 RNA Sequence