COL14A1 collagen type XIV alpha 1 chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: COL14A1provided by HGNC
Official Full Name: collagen type XIV alpha 1 chainprovided by HGNC
Primary source: HGNC:HGNC:2191
See related: Ensembl:ENSG00000187955 MIM:120324; AllianceGenome:HGNC:2191
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: UND
Summary: This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
Expression: Broad expression in gall bladder (RPKM 64.7), placenta (RPKM 45.7) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.12

Exon count:: 53

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (120124454..120373573)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (121253115..121502333)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (121137341..121385812)

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?

the intima+media of IPAH vessels, collagens (COL4A5, COL14A1, and COL18A1), matrix metalloproteinase (MMP) 19, and a disintegrin and metalloprotease (ADAM) 33 were higher expressed, whereas MMP10, ADAM17, TIMP1, and TIMP3 were less abundant.
Title: Compartment-specific expression of collagens and their processing enzymes in intrapulmonary arteries of IPAH patients.
COL14A1 would be a casual gene for punctate palmoplantar keratoderma.
Title: Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
In addition to binding collagen I, COMP binds to collagens XII and XIV via their C-terminal collagenous domains.
Title: Collagen XII and XIV, new partners of cartilage oligomeric matrix protein in the skin extracellular matrix suprastructure.
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.
The aim of this study was therefore to test the association between polymorphisms within COL12A1 and COL14A1 and Achilles tendon injuries
Title: The COL12A1 and COL14A1 genes and Achilles tendon injuries.
Observational study of gene-disease association. (HuGE Navigator)
Title: The COL12A1 and COL14A1 genes and Achilles tendon injuries.
the fibronectin type III domain of collagen XIV is an inducer of quiescence and differentiation in fibroblasts and preadipocytes
Title: The elongated first fibronectin type III domain of collagen XIV is an inducer of quiescence and differentiation in fibroblasts and preadipocytes.
Results suggest that collagens XII and XIV might serve different functions during human embryonic development although their structures are highly similar.
Title: Collagen types XII and XIV are present in basement membrane zones during human embryonic development.

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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
Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. 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

D8S586 (e-PCR), detects polymorphism
- UniSTS:39428

RH66839 (e-PCR)
- UniSTS:24774

WI-18017 (e-PCR)
- UniSTS:6892

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables collagen binding	NAS Non-traceable Author Statement more info	PubMed
enables extracellular matrix structural constituent	NAS Non-traceable Author Statement more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein-macromolecule adaptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in collagen fibril organization	NAS Non-traceable Author Statement more info	PubMed
involved_in extracellular matrix organization	NAS Non-traceable Author Statement more info	PubMed
involved_in homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell growth involved in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of collagen trimer	NAS Non-traceable Author Statement more info	PubMed
part_of collagen type XIV trimer	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in interstitial matrix	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: collagen alpha-1(XIV) chain

Names: collagen, type XIV, alpha 1; undulin (fibronectin-tenascin-related)

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_033107.1 RefSeqGene

Range

4995..253466

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001384947.1 → NP_001371876.1 collagen alpha-1(XIV) chain isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736, AC107877

Consensus CDS

CCDS94338.1

Related

ENSP00000311809.4, ENST00000309791.8

Conserved Domains (6) summary

smart00060
Location:447 → 516

FN3; Fibronectin type 3 domain

smart00210
Location:1229 → 1424

TSPN; Thrombospondin N-terminal -like domains

cd00063
Location:536 → 621

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd01482
Location:1031 → 1195

vWA_collagen_alphaI-XII-like; Collagen: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different ...

pfam00041
Location:832 → 901

fn3; Fibronectin type III domain

pfam01391
Location:1515 → 1604

Collagen; Collagen triple helix repeat (20 copies)
NM_001413490.1 → NP_001400419.1 collagen alpha-1(XIV) chain isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736, AC107877

UniProtKB/Swiss-Prot

B2RU07, O00260, O00261, O00262, Q05707, Q05708, Q5XJ18, Q96C67, Q9UDF6
NM_001413491.1 → NP_001400420.1 collagen alpha-1(XIV) chain isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736, AC107877
NM_001413492.1 → NP_001400421.1 collagen alpha-1(XIV) chain isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736, AC107877
NM_001413493.1 → NP_001400422.1 collagen alpha-1(XIV) chain isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736, AC107877

UniProtKB/Swiss-Prot

B2RU07, O00260, O00261, O00262, Q05707, Q05708, Q5XJ18, Q96C67, Q9UDF6
NM_001413494.1 → NP_001400423.1 collagen alpha-1(XIV) chain isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736, AC107877
NM_001413495.1 → NP_001400424.1 collagen alpha-1(XIV) chain isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736, AC107877
NM_001413496.1 → NP_001400425.1 collagen alpha-1(XIV) chain isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736

Related

ENST00000432943.6
NM_001413497.1 → NP_001400426.1 collagen alpha-1(XIV) chain isoform 6 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736
NM_001413498.1 → NP_001400427.1 collagen alpha-1(XIV) chain isoform 7 precursor

Status: REVIEWED

Source sequence(s)

AC020603, AC090736, AC107877
NM_001413499.1 → NP_001400428.1 collagen alpha-1(XIV) chain isoform 8

Status: REVIEWED

Source sequence(s)

AC020603, AC107877
NM_001413500.1 → NP_001400429.1 collagen alpha-1(XIV) chain isoform 9

Status: REVIEWED

Source sequence(s)

AC020603, AC107877
NM_021110.4 → NP_066933.1 collagen alpha-1(XIV) chain isoform 1 precursor

See identical proteins and their annotated locations for NP_066933.1

Status: REVIEWED

Source sequence(s)

AC090736, AC107877, AK307716, BC140893, CF529353, DA373565, DB286127

Consensus CDS

CCDS34938.1

UniProtKB/Swiss-Prot

B2RU07, O00260, O00261, O00262, Q05707, Q05708, Q5XJ18, Q96C67, Q9UDF6

Related

ENSP00000297848.3, ENST00000297848.8

Conserved Domains (6) summary

pfam01391
Location:1478 → 1553

Collagen; Collagen triple helix repeat (20 copies)

smart00060
Location:630 → 701

FN3; Fibronectin type 3 domain

smart00210
Location:1229 → 1424

TSPN; Thrombospondin N-terminal -like domains

cd00063
Location:536 → 621

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd01482
Location:1031 → 1195

vWA_collagen_alphaI-XII-like; Collagen: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different ...

pfam00041
Location:830 → 908

fn3; Fibronectin type III domain