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Protein

Collagen alpha-1(XXI) chain

Gene

COL21A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124749-MONOMER.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XXI) chain
Gene namesi
Name:COL21A1
Synonyms:COL1AL
ORF Names:FP633
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:17025. COL21A1.

Subcellular locationi

  • Secretedextracellular spaceextracellular matrix 1 Publication
  • Cytoplasm 1 Publication

  • Note: Found in the extracellular matrix component of blood vessel walls and in the cytoplasm of cultured human aortic smooth muscle.

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi81578.
OpenTargetsiENSG00000124749.
PharmGKBiPA26714.

Polymorphism and mutation databases

BioMutaiCOL21A1.
DMDMi74752071.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000031761323 – 957Collagen alpha-1(XXI) chainAdd BLAST935

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi62N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96P44.
PeptideAtlasiQ96P44.
PRIDEiQ96P44.

PTM databases

iPTMnetiQ96P44.
PhosphoSitePlusiQ96P44.

Expressioni

Tissue specificityi

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 expressed in heart, liver, kidney, bone marrow, spleen, thymus, skeletal muscle, adrenal gland and peripheral leukocytes. Expression in heart was higher in the right ventricle and atrium than in the left ventricle and atrium.2 Publications

Developmental stagei

Highest expression observed at the fetal stage. Expressed by smooth-muscle cells in the artery wall in a PDGF-dependent way.1 Publication

Inductioni

Stimulated by PDGF/platelet-derived growth factor.1 Publication

Gene expression databases

BgeeiENSG00000124749.
CleanExiHS_COL21A1.
ExpressionAtlasiQ96P44. baseline and differential.
GenevisibleiQ96P44. HS.

Organism-specific databases

HPAiHPA031210.
HPA031212.
HPA031213.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000244728.

Structurei

3D structure databases

ProteinModelPortaliQ96P44.
SMRiQ96P44.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini37 – 211VWFAPROSITE-ProRule annotationAdd BLAST175
Domaini230 – 412Laminin G-likeAdd BLAST183
Domaini448 – 500Collagen-like 1Add BLAST53
Domaini501 – 542Collagen-like 2Add BLAST42
Domaini543 – 594Collagen-like 3Add BLAST52
Domaini681 – 733Collagen-like 4Add BLAST53
Domaini734 – 787Collagen-like 5Add BLAST54
Domaini825 – 882Collagen-like 6Add BLAST58
Domaini884 – 934Collagen-like 7Add BLAST51

Sequence similaritiesi

Contains 7 collagen-like domains.Curated
Contains 1 laminin G-like domain.Curated
Contains 1 VWFA domain.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IS78. Eukaryota.
ENOG41100RI. LUCA.
GeneTreeiENSGT00840000129701.
HOVERGENiHBG106599.
InParanoidiQ96P44.
KOiK16629.
OMAiDGLMGPA.
OrthoDBiEOG091G002N.
PhylomeDBiQ96P44.
TreeFamiTF332934.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
3.40.50.410. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR001791. Laminin_G.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 6 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00210. TSPN. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96P44-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAHYITFLCM VLVLLLQNSV LAEDGEVRSS CRTAPTDLVF ILDGSYSVGP
60 70 80 90 100
ENFEIVKKWL VNITKNFDIG PKFIQVGVVQ YSDYPVLEIP LGSYDSGEHL
110 120 130 140 150
TAAVESILYL GGNTKTGKAI QFALDYLFAK SSRFLTKIAV VLTDGKSQDD
160 170 180 190 200
VKDAAQAARD SKITLFAIGV GSETEDAELR AIANKPSSTY VFYVEDYIAI
210 220 230 240 250
SKIREVMKQK LCEESVCPTR IPVAARDERG FDILLGLDVN KKVKKRIQLS
260 270 280 290 300
PKKIKGYEVT SKVDLSELTS NVFPEGLPPS YVFVSTQRFK VKKIWDLWRI
310 320 330 340 350
LTIDGRPQIA VTLNGVDKIL LFTTTSVING SQVVTFANPQ VKTLFDEGWH
360 370 380 390 400
QIRLLVTEQD VTLYIDDQQI ENKPLHPVLG ILINGQTQIG KYSGKEETVQ
410 420 430 440 450
FDVQKLRIYC DPEQNNRETA CEIPGFNGEC LNGPSDVGST PAPCICPPGK
460 470 480 490 500
PGLQGPKGDP GLPGNPGYPG QPGQDGKPGY QGIAGTPGVP GSPGIQGARG
510 520 530 540 550
LPGYKGEPGR DGDKGDRGLP GFPGLHGMPG SKGEMGAKGD KGSPGFYGKK
560 570 580 590 600
GAKGEKGNAG FPGLPGPAGE PGRHGKDGLM GSPGFKGEAG SPGAPGQDGT
610 620 630 640 650
RGEPGIPGFP GNRGLMGQKG EIGPPGQQGK KGAPGMPGLM GSNGSPGQPG
660 670 680 690 700
TPGSKGSKGE PGIQGMPGAS GLKGEPGATG SPGEPGYMGL PGIQGKKGDK
710 720 730 740 750
GNQGEKGIQG QKGENGRQGI PGQQGIQGHH GAKGERGEKG EPGVRGAIGS
760 770 780 790 800
KGESGVDGLM GPAGPKGQPG DPGPQGPPGL DGKPGREFSE QFIRQVCTDV
810 820 830 840 850
IRAQLPVLLQ SGRIRNCDHC LSQHGSPGIP GPPGPIGPEG PRGLPGLPGR
860 870 880 890 900
DGVPGLVGVP GRPGVRGLKG LPGRNGEKGS QGFGYPGEQG PPGPPGPEGP
910 920 930 940 950
PGISKEGPPG DPGLPGKDGD HGKPGIQGQP GPPGICDPSL CFSVIARRDP

FRKGPNY
Length:957
Mass (Da):99,369
Last modified:December 1, 2001 - v1
Checksum:i4C5CDF5E6656A675
GO
Isoform 2 (identifier: Q96P44-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-600: Missing.
     601-604: RGEP → MIAS
     803-836: Missing.

Note: No experimental confirmation available.
Show »
Length:323
Mass (Da):31,650
Checksum:i71FB0C48E750734C
GO
Isoform 3 (identifier: Q96P44-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     427-429: Missing.

Note: No experimental confirmation available.
Show »
Length:954
Mass (Da):99,068
Checksum:iC3514675DDACDF23
GO

Sequence cautioni

The sequence AAH45597 differs from that shown. Reason: Frameshift at position 478.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti129A → D in CAB66559 (PubMed:11230166).Curated1
Sequence conflicti780L → W in AAH45597 (PubMed:15489334).Curated1
Sequence conflicti802R → K in AAH45597 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038555277L → P.Corresponds to variant rs2764043dbSNPEnsembl.1
Natural variantiVAR_038556343T → M.1 PublicationCorresponds to variant rs35471617dbSNPEnsembl.1
Natural variantiVAR_038557495I → T.Corresponds to variant rs35583895dbSNPEnsembl.1
Natural variantiVAR_038558560G → S.Corresponds to variant rs9382581dbSNPEnsembl.1
Natural variantiVAR_038559747A → D.Corresponds to variant rs9464337dbSNPEnsembl.1
Natural variantiVAR_038560821L → P.Corresponds to variant rs12209452dbSNPEnsembl.1
Natural variantiVAR_038561827P → A.Corresponds to variant rs1555131dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0310831 – 600Missing in isoform 2. 1 PublicationAdd BLAST600
Alternative sequenceiVSP_031084427 – 429Missing in isoform 3. 1 Publication3
Alternative sequenceiVSP_031085601 – 604RGEP → MIAS in isoform 2. 1 Publication4
Alternative sequenceiVSP_031086803 – 836Missing in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF414088 mRNA. Translation: AAL02227.1.
AF330693 mRNA. Translation: AAL50033.1.
AF438327 Genomic DNA. Translation: AAL86699.1.
AL136624 mRNA. Translation: CAB66559.1.
AF370383 mRNA. Translation: AAQ15219.1.
AK313398 mRNA. Translation: BAG36196.1.
AL513530, AL031782, AL034452 Genomic DNA. Translation: CAH73912.1.
AL513530, AL031782, AL034452 Genomic DNA. Translation: CAH73913.1.
AL034452, AL031782, AL513530 Genomic DNA. Translation: CAI22395.1.
AL034452, AL031782, AL513530 Genomic DNA. Translation: CAI22396.1.
AL031782, AL034452, AL513530 Genomic DNA. Translation: CAI22496.1.
AL031782, AL034452, AL513530 Genomic DNA. Translation: CAI22497.1.
BC045597 mRNA. Translation: AAH45597.1. Frameshift.
BC126108 mRNA. Translation: AAI26109.1.
CCDSiCCDS55025.1. [Q96P44-1]
CCDS83099.1. [Q96P44-3]
RefSeqiNP_001305680.1. NM_001318751.1. [Q96P44-1]
NP_001305681.1. NM_001318752.1. [Q96P44-3]
NP_001305682.1. NM_001318753.1.
NP_001305683.1. NM_001318754.1.
NP_110447.2. NM_030820.3. [Q96P44-1]
XP_011513226.1. XM_011514924.2. [Q96P44-1]
XP_011513227.1. XM_011514925.2. [Q96P44-1]
XP_011513228.1. XM_011514926.1. [Q96P44-1]
XP_011513229.1. XM_011514927.1. [Q96P44-1]
UniGeneiHs.47629.

Genome annotation databases

EnsembliENST00000244728; ENSP00000244728; ENSG00000124749. [Q96P44-1]
ENST00000370819; ENSP00000359855; ENSG00000124749. [Q96P44-3]
GeneIDi81578.
KEGGihsa:81578.
UCSCiuc003pcs.4. human. [Q96P44-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF414088 mRNA. Translation: AAL02227.1.
AF330693 mRNA. Translation: AAL50033.1.
AF438327 Genomic DNA. Translation: AAL86699.1.
AL136624 mRNA. Translation: CAB66559.1.
AF370383 mRNA. Translation: AAQ15219.1.
AK313398 mRNA. Translation: BAG36196.1.
AL513530, AL031782, AL034452 Genomic DNA. Translation: CAH73912.1.
AL513530, AL031782, AL034452 Genomic DNA. Translation: CAH73913.1.
AL034452, AL031782, AL513530 Genomic DNA. Translation: CAI22395.1.
AL034452, AL031782, AL513530 Genomic DNA. Translation: CAI22396.1.
AL031782, AL034452, AL513530 Genomic DNA. Translation: CAI22496.1.
AL031782, AL034452, AL513530 Genomic DNA. Translation: CAI22497.1.
BC045597 mRNA. Translation: AAH45597.1. Frameshift.
BC126108 mRNA. Translation: AAI26109.1.
CCDSiCCDS55025.1. [Q96P44-1]
CCDS83099.1. [Q96P44-3]
RefSeqiNP_001305680.1. NM_001318751.1. [Q96P44-1]
NP_001305681.1. NM_001318752.1. [Q96P44-3]
NP_001305682.1. NM_001318753.1.
NP_001305683.1. NM_001318754.1.
NP_110447.2. NM_030820.3. [Q96P44-1]
XP_011513226.1. XM_011514924.2. [Q96P44-1]
XP_011513227.1. XM_011514925.2. [Q96P44-1]
XP_011513228.1. XM_011514926.1. [Q96P44-1]
XP_011513229.1. XM_011514927.1. [Q96P44-1]
UniGeneiHs.47629.

3D structure databases

ProteinModelPortaliQ96P44.
SMRiQ96P44.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000244728.

PTM databases

iPTMnetiQ96P44.
PhosphoSitePlusiQ96P44.

Polymorphism and mutation databases

BioMutaiCOL21A1.
DMDMi74752071.

Proteomic databases

PaxDbiQ96P44.
PeptideAtlasiQ96P44.
PRIDEiQ96P44.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000244728; ENSP00000244728; ENSG00000124749. [Q96P44-1]
ENST00000370819; ENSP00000359855; ENSG00000124749. [Q96P44-3]
GeneIDi81578.
KEGGihsa:81578.
UCSCiuc003pcs.4. human. [Q96P44-1]

Organism-specific databases

CTDi81578.
DisGeNETi81578.
GeneCardsiCOL21A1.
HGNCiHGNC:17025. COL21A1.
HPAiHPA031210.
HPA031212.
HPA031213.
MIMi610002. gene.
neXtProtiNX_Q96P44.
OpenTargetsiENSG00000124749.
PharmGKBiPA26714.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IS78. Eukaryota.
ENOG41100RI. LUCA.
GeneTreeiENSGT00840000129701.
HOVERGENiHBG106599.
InParanoidiQ96P44.
KOiK16629.
OMAiDGLMGPA.
OrthoDBiEOG091G002N.
PhylomeDBiQ96P44.
TreeFamiTF332934.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124749-MONOMER.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

GenomeRNAii81578.
PROiQ96P44.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124749.
CleanExiHS_COL21A1.
ExpressionAtlasiQ96P44. baseline and differential.
GenevisibleiQ96P44. HS.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
3.40.50.410. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR001791. Laminin_G.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 6 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00210. TSPN. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOLA1_HUMAN
AccessioniPrimary (citable) accession number: Q96P44
Secondary accession number(s): A6NIX5
, B2R8J9, Q49A51, Q71RF4, Q8WXV8, Q9H0V3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 133 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.