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

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Are COL22A1 Gene Polymorphisms rs11784270 and rs6577958 Associated with Susceptibility to a Non-Contact Anterior Cruciate Ligament Injury in Polish Athletes?
Title: Are COL22A1 Gene Polymorphisms rs11784270 and rs6577958 Associated with Susceptibility to a Non-Contact Anterior Cruciate Ligament Injury in Polish Athletes?
eQTL variants in COL22A1 are associated with muscle injury in athletes.
Title: eQTL variants in COL22A1 are associated with muscle injury in athletes.
COL22A1 mediates fibroblast to myofibroblast transition in systemic sclerosis. Silencing of COL22A1 significantly reduced TGFbeta-induced ACTA2 expression.
Title: A Human Skin Model Recapitulates Systemic Sclerosis Dermal Fibrosis and Identifies COL22A1 as a TGFβ Early Response Gene that Mediates Fibroblast to Myofibroblast Transition.
COL22A1 is required to maintain vascular integrity. These data further suggest that mutations in COL22A1 could be one of the risk factors for intracranial aneurysms in humans.
Title: Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms.
Collage XXII interacts with collagen-binding integrins via the protein motifs GLQGER and GFKGER.
Title: Collagen XXII binds to collagen-binding integrins via the novel motifs GLQGER and GFKGER.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
association between serum creatinine level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12
Title: A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
collagen XXII is the first specific extracellular matrix protein present only at tissue junctions
Title: A novel marker of tissue junctions, collagen XXII.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of bronchodilator response in asthmatics. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-146301 (e-PCR)
- UniSTS:175135

SHGC-148961 (e-PCR)
- UniSTS:176706

SHGC-149203 (e-PCR)
- UniSTS:173126

D8S1050 (e-PCR), detects polymorphism
- UniSTS:149370

RH102569 (e-PCR)
- UniSTS:96903

SHGC-132810 (e-PCR)
- UniSTS:173967

RH102326 (e-PCR)
- UniSTS:96660

SHGC-149386 (e-PCR)
- UniSTS:184732

SHGC-149623 (e-PCR)
- UniSTS:184736

SHGC-153336 (e-PCR)
- UniSTS:184747

SHGC-147020 (e-PCR)
- UniSTS:172732

SHGC-155040 (e-PCR)
- UniSTS:184779

D8S346 (e-PCR)
- UniSTS:71644

SHGC-155762 (e-PCR)
- UniSTS:184806

L18002 (e-PCR)
- UniSTS:55545

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

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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

NG_054761.1 RefSeqGene

Range

5047..330853

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_152888.3 → NP_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:654 → 704

Collagen; Collagen triple helix repeat (20 copies)

cl00057
Location:36 → 219

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:239 → 426

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

138588235..138914041 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017013150.3 → XP_016868639.1 collagen alpha-1(XXII) chain isoform X5
XM_011516886.4 → XP_011515188.1 collagen alpha-1(XXII) chain isoform X4

Conserved Domains (3) summary

pfam01391
Location:625 → 675

Collagen; Collagen triple helix repeat (20 copies)

cl00057
Location:36 → 190

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:210 → 397

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

Conserved Domains (3) summary

pfam01391
Location:641 → 691

Collagen; Collagen triple helix repeat (20 copies)

cl00057
Location:36 → 219

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:239 → 426

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 ...
XM_017013151.2 → XP_016868640.1 collagen alpha-1(XXII) chain isoform X6
XM_011516885.3 → XP_011515187.1 collagen alpha-1(XXII) chain isoform X3

Conserved Domains (3) summary

pfam01391
Location:654 → 704

Collagen; Collagen triple helix repeat (20 copies)

cl00057
Location:36 → 219

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:239 → 426

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 ...
XM_011516883.3 → XP_011515185.1 collagen alpha-1(XXII) chain isoform X1

UniProtKB/Swiss-Prot

Q8NFW1

Conserved Domains (3) summary

pfam01391
Location:654 → 704

Collagen; Collagen triple helix repeat (20 copies)

cl00057
Location:36 → 219

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:239 → 426

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

Conserved Domains (2) summary

pfam01391
Location:312 → 362

Collagen; Collagen triple helix repeat (20 copies)

cl22861
Location:7 → 84

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 ...
XM_017013152.2 → XP_016868641.1 collagen alpha-1(XXII) chain isoform X7

Conserved Domains (2) summary

pfam01391
Location:312 → 362

Collagen; Collagen triple helix repeat (20 copies)

cl22861
Location:7 → 84

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 ...
XM_011516889.3 → XP_011515191.1 collagen alpha-1(XXII) chain isoform X10

Conserved Domains (1) summary

pfam01391
Location:106 → 156

Collagen; Collagen triple helix repeat (20 copies)
XM_047421412.1 → XP_047277368.1 collagen alpha-1(XXII) chain isoform X9
XM_011516888.3 → XP_011515190.1 collagen alpha-1(XXII) chain isoform X8

Conserved Domains (3) summary

pfam01391
Location:654 → 704

Collagen; Collagen triple helix repeat (20 copies)

cl00057
Location:36 → 219

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:239 → 426

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 ...