Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	81578
Gene name Gene Name - the full gene name approved by the HGNC.	Collagen type XXI alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COL21A1
Synonyms (NCBI Gene) Gene synonyms aliases	COLA1L, FP633
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p12.1\|6p12.3-p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the e

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006383	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006383	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006383	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT018264	hsa-miR-335-5p	Microarray	18185580
MIRT902730	hsa-miR-1305	CLIP-seq
MIRT902731	hsa-miR-221	CLIP-seq
MIRT902732	hsa-miR-222	CLIP-seq
MIRT902733	hsa-miR-29a	CLIP-seq
MIRT902734	hsa-miR-29b	CLIP-seq
MIRT902735	hsa-miR-29c	CLIP-seq
MIRT902736	hsa-miR-3165	CLIP-seq
MIRT902737	hsa-miR-3671	CLIP-seq
MIRT902738	hsa-miR-4433	CLIP-seq
MIRT902739	hsa-miR-4459	CLIP-seq
MIRT902740	hsa-miR-4652-3p	CLIP-seq
MIRT902741	hsa-miR-4742-5p	CLIP-seq
MIRT902742	hsa-miR-4768-3p	CLIP-seq
MIRT902743	hsa-miR-4778-5p	CLIP-seq
MIRT902744	hsa-miR-4794	CLIP-seq
MIRT902745	hsa-miR-548a-3p	CLIP-seq
MIRT902746	hsa-miR-548e	CLIP-seq
MIRT902747	hsa-miR-548f	CLIP-seq
MIRT902748	hsa-miR-548v	CLIP-seq
MIRT902749	hsa-miR-587	CLIP-seq
MIRT902750	hsa-miR-607	CLIP-seq
MIRT902751	hsa-miR-885-5p	CLIP-seq
MIRT902752	hsa-miR-892b	CLIP-seq
MIRT902733	hsa-miR-29a	CLIP-seq
MIRT902734	hsa-miR-29b	CLIP-seq
MIRT902735	hsa-miR-29c	CLIP-seq
MIRT2203532	hsa-miR-4422	CLIP-seq
MIRT902740	hsa-miR-4652-3p	CLIP-seq
MIRT902743	hsa-miR-4778-5p	CLIP-seq
MIRT2203533	hsa-miR-520d-5p	CLIP-seq
MIRT2203534	hsa-miR-524-5p	CLIP-seq
MIRT2203535	hsa-miR-600	CLIP-seq
MIRT2506529	hsa-miR-1290	CLIP-seq
MIRT2506530	hsa-miR-203	CLIP-seq
MIRT2506531	hsa-miR-3065-5p	CLIP-seq
MIRT2506532	hsa-miR-3148	CLIP-seq
MIRT2506533	hsa-miR-3163	CLIP-seq
MIRT902736	hsa-miR-3165	CLIP-seq
MIRT2506534	hsa-miR-3167	CLIP-seq
MIRT2506535	hsa-miR-3646	CLIP-seq
MIRT2506536	hsa-miR-3662	CLIP-seq
MIRT2506537	hsa-miR-3688-3p	CLIP-seq
MIRT2506538	hsa-miR-3910	CLIP-seq
MIRT2506539	hsa-miR-4493	CLIP-seq
MIRT2506540	hsa-miR-4643	CLIP-seq
MIRT2506541	hsa-miR-466	CLIP-seq
MIRT2506542	hsa-miR-4694-3p	CLIP-seq
MIRT902741	hsa-miR-4742-5p	CLIP-seq
MIRT2506543	hsa-miR-4789-3p	CLIP-seq
MIRT902744	hsa-miR-4794	CLIP-seq
MIRT2506544	hsa-miR-495	CLIP-seq
MIRT2506545	hsa-miR-543	CLIP-seq
MIRT902745	hsa-miR-548a-3p	CLIP-seq
MIRT902746	hsa-miR-548e	CLIP-seq
MIRT902747	hsa-miR-548f	CLIP-seq
MIRT2506546	hsa-miR-876-5p	CLIP-seq
MIRT902752	hsa-miR-892b	CLIP-seq
MIRT902736	hsa-miR-3165	CLIP-seq
MIRT902741	hsa-miR-4742-5p	CLIP-seq
MIRT902744	hsa-miR-4794	CLIP-seq
MIRT902745	hsa-miR-548a-3p	CLIP-seq
MIRT902746	hsa-miR-548e	CLIP-seq
MIRT902747	hsa-miR-548f	CLIP-seq
MIRT902752	hsa-miR-892b	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	IDA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	IBA	21873635

MIM	HGNC	e!Ensembl
610002	17025	ENSG00000124749

Protein

UniProt ID

Q96P44

Protein name

Collagen alpha-1(XXI) chain

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00092	VWA	37 → 206	von Willebrand factor type A domain	Domain
PF01391	Collagen	446 → 501	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	482 → 558	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	527 → 597	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	671 → 743	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	730 → 790	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	824 → 884	Collagen triple helix repeat (20 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in lymph node, jejunum, pancreas, stomach, trachea, testis, uterus and placenta; moderately expressed in brain, colon, lung, prostate, spinal cord, salivary gland and vascular smooth-muscle cells and very weakly expres

Sequence

MAHYITFLCMVLVLLLQNSVLAEDGEVRSSCRTAPTDLVFILDGSYSVGPENFEIVKKWL
VNITKNFDIGPKFIQVGVVQYSDYPVLEIPLGSYDSGEHLTAAVESILYLGGNTKTGKAI
QFALDYLFAKSSRFLTKIAVVLTDGKSQDDVKDAAQAARDSKITLFAIGVGSETEDAELR
AIANKPSSTYVFYVEDYIAISKIREVMKQKLCEESVCPTRIPVAARDERGFDILLGLDVN
KKVKKRIQLSPKKIKGYEVTSKVDLSELTSNVFPEGLPPSYVFVSTQRFKVKKIWDLWRI
LTIDGRPQIAVTLNGVDKILLFTTTSVINGSQVVTFANPQVKTLFDEGWHQIRLLVTEQD
VTLYIDDQQIENKPLHPVLGILINGQTQIGKYSGKEETVQFDVQKLRIYCDPEQNNRETA
CEIPGFNGECLNGPSDVGSTPAPCICPPGKPGLQGPKGDPGLPGNPGYPGQPGQDGKPGY
QGIAGTPGVPGSPGIQGARGLPGYKGEPGRDGDKGDRGLPGFPGLHGMPGSKGEMGAKGD
KGSPGFYGKKGAKGEKGNAGFPGLPGPAGEPGRHGKDGLMGSPGFKGEAGSPGAPGQDGT
RGEPGIPGFPGNRGLMGQKGEIGPPGQQGKKGAPGMPGLMGSNGSPGQPGTPGSKGSKGE
PGIQGMPGASGLKGEPGATGSPGEPGYMGLPGIQGKKGDKGNQGEKGIQGQKGENGRQGI
PGQQGIQGHHGAKGERGEKGEPGVRGAIGSKGESGVDGLMGPAGPKGQPGDPGPQGPPGL
DGKPGREFSEQFIRQVCTDVIRAQLPVLLQSGRIRNCDHCLSQHGSPGIPGPPGPIGPEG
PRGLPGLPGRDGVPGLVGVPGRPGVRGLKGLPGRNGEKGSQGFGYPGEQGPPGPPGPEGP
PGISKEGPPGDPGLPGKDGDHGKPGIQGQPGPPGICDPSLCFSVIARRDPFRKGPNY

Sequence length

957

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		Collagen biosynthesis and modifying enzymes Collagen chain trimerization

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Allergic Sensitization	Allergic Sensitization	GWAS
Schizophrenia	Schizophrenia	GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Cardiomyopathy Dilated	Associate	27936202
Fuchs' Endothelial Dystrophy	Associate	28726551
Hypertension	Associate	37451613
Orofacial Cleft 1	Associate	26868259, 30924295

COL21A1 (collagen type XXI alpha 1 chain)