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Protein

Collagen alpha-1(XXI) chain

Gene

COL21A1

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

Functioni

GO - Molecular functioni

GO - Biological processi

  • growth plate cartilage chondrocyte morphogenesis Source: GO_Central

Enzyme and pathway databases

ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-8948216 Collagen chain trimerization

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

EuPathDBiHostDB:ENSG00000124749.16
HGNCiHGNC:17025 COL21A1
MIMi610002 gene
neXtProtiNX_Q96P44

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96P44
PeptideAtlasiQ96P44
PRIDEiQ96P44
ProteomicsDBi77615
77616 [Q96P44-2]
77617 [Q96P44-3]

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 Expressed in 192 organ(s), highest expression level in metanephros
CleanExiHS_COL21A1
ExpressionAtlasiQ96P44 baseline and differential
GenevisibleiQ96P44 HS

Organism-specific databases

HPAiHPA031212

Interactioni

Protein-protein interaction databases

BioGridi123538, 5 interactors
ComplexPortaliCPX-1762 Collagen type XXI trimer
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

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IS78 Eukaryota
ENOG41100RI LUCA
GeneTreeiENSGT00900000140804
HOVERGENiHBG106599
InParanoidiQ96P44
KOiK16629
OMAiDGLMGPA
OrthoDBiEOG091G002N
PhylomeDBiQ96P44
TreeFamiTF332934

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR001791 Laminin_G
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF01391 Collagen, 6 hits
PF00092 VWA, 1 hit
SMARTiView protein in SMART
SM00210 TSPN, 1 hit
SM00327 VWA, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
SSF53300 SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit

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

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GZK2F5GZK2_HUMAN
Collagen alpha-1(XXI) chain
COL21A1
956Annotation score:
A6PVD9A6PVD9_HUMAN
Collagen alpha-1(XXI) chain
COL21A1
136Annotation score:
H0YDH6H0YDH6_HUMAN
Collagen alpha-1(XXI) chain
COL21A1
79Annotation score:
H0Y4C9H0Y4C9_HUMAN
Collagen alpha-1(XXI) chain
COL21A1
125Annotation score:

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 dbSNP:rs2764043Ensembl.1
Natural variantiVAR_038556343T → M1 PublicationCorresponds to variant dbSNP:rs35471617Ensembl.1
Natural variantiVAR_038557495I → T. Corresponds to variant dbSNP:rs35583895Ensembl.1
Natural variantiVAR_038558560G → S. Corresponds to variant dbSNP:rs9382581Ensembl.1
Natural variantiVAR_038559747A → D. Corresponds to variant dbSNP:rs9464337Ensembl.1
Natural variantiVAR_038560821L → P. Corresponds to variant dbSNP:rs12209452Ensembl.1
Natural variantiVAR_038561827P → A. Corresponds to variant dbSNP:rs1555131Ensembl.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
AL031782 Genomic DNA No translation available.
AL034452 Genomic DNA No translation available.
AL513530 Genomic DNA No translation available.
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

Similar proteinsi

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
AL031782 Genomic DNA No translation available.
AL034452 Genomic DNA No translation available.
AL513530 Genomic DNA No translation available.
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

BioGridi123538, 5 interactors
ComplexPortaliCPX-1762 Collagen type XXI trimer
STRINGi9606.ENSP00000244728

PTM databases

iPTMnetiQ96P44
PhosphoSitePlusiQ96P44

Polymorphism and mutation databases

BioMutaiCOL21A1
DMDMi74752071

Proteomic databases

PaxDbiQ96P44
PeptideAtlasiQ96P44
PRIDEiQ96P44
ProteomicsDBi77615
77616 [Q96P44-2]
77617 [Q96P44-3]

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
EuPathDBiHostDB:ENSG00000124749.16
GeneCardsiCOL21A1
HGNCiHGNC:17025 COL21A1
HPAiHPA031212
MIMi610002 gene
neXtProtiNX_Q96P44
OpenTargetsiENSG00000124749
PharmGKBiPA26714
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IS78 Eukaryota
ENOG41100RI LUCA
GeneTreeiENSGT00900000140804
HOVERGENiHBG106599
InParanoidiQ96P44
KOiK16629
OMAiDGLMGPA
OrthoDBiEOG091G002N
PhylomeDBiQ96P44
TreeFamiTF332934

Enzyme and pathway databases

ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-8948216 Collagen chain trimerization

Miscellaneous databases

GenomeRNAii81578
PROiPR:Q96P44
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124749 Expressed in 192 organ(s), highest expression level in metanephros
CleanExiHS_COL21A1
ExpressionAtlasiQ96P44 baseline and differential
GenevisibleiQ96P44 HS

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR001791 Laminin_G
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF01391 Collagen, 6 hits
PF00092 VWA, 1 hit
SMARTiView protein in SMART
SM00210 TSPN, 1 hit
SM00327 VWA, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
SSF53300 SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCOLA1_HUMAN
AccessioniPrimary (citable) accession number: Q96P44
Secondary accession number(s): A6NIX5
, B2R8J9, Q49A51, Q71RF4, Q8WXV8, Q9H0V3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 148 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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