COLA1_HUMAN
ID COLA1_HUMAN Reviewed; 957 AA.
AC Q96P44; A6NIX5; B2R8J9; Q49A51; Q71RF4; Q8WXV8; Q9H0V3;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Collagen alpha-1(XXI) chain;
DE Flags: Precursor;
GN Name=COL21A1; Synonyms=COL1AL; ORFNames=FP633;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=11566190; DOI=10.1016/s0014-5793(01)02754-5;
RA Fitzgerald J., Bateman J.F.;
RT "A new FACIT of the collagen family: COL21A1.";
RL FEBS Lett. 505:275-280(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 3), DEVELOPMENTAL
RP STAGE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND INDUCTION BY PDGF.
RX PubMed=11863369; DOI=10.1006/geno.2002.6712;
RA Chou M.-Y., Li H.-C.;
RT "Genomic organization and characterization of the human type XXI collagen
RT (COL21A1) gene.";
RL Genomics 79:395-401(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT MET-343.
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix {ECO:0000269|PubMed:11863369}. Cytoplasm
CC {ECO:0000269|PubMed:11863369}. Note=Found in the extracellular matrix
CC component of blood vessel walls and in the cytoplasm of cultured human
CC aortic smooth muscle.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96P44-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96P44-2; Sequence=VSP_031083, VSP_031085, VSP_031086;
CC Name=3;
CC IsoId=Q96P44-3; Sequence=VSP_031084;
CC -!- TISSUE SPECIFICITY: Highly expressed in lymph node, jejunum, pancreas,
CC stomach, trachea, testis, uterus and placenta; moderately expressed in
CC brain, colon, lung, prostate, spinal cord, salivary gland and vascular
CC smooth-muscle cells and very weakly expressed in heart, liver, kidney,
CC bone marrow, spleen, thymus, skeletal muscle, adrenal gland and
CC peripheral leukocytes. Expression in heart was higher in the right
CC ventricle and atrium than in the left ventricle and atrium.
CC {ECO:0000269|PubMed:11566190, ECO:0000269|PubMed:11863369}.
CC -!- DEVELOPMENTAL STAGE: Highest expression observed at the fetal stage.
CC Expressed by smooth-muscle cells in the artery wall in a PDGF-dependent
CC way. {ECO:0000269|PubMed:11863369}.
CC -!- INDUCTION: Stimulated by PDGF/platelet-derived growth factor.
CC {ECO:0000269|PubMed:11863369}.
CC -!- SIMILARITY: Belongs to the fibril-associated collagens with interrupted
CC helices (FACIT) family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH45597.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF414088; AAL02227.1; -; mRNA.
DR EMBL; AF330693; AAL50033.1; -; mRNA.
DR EMBL; AF438327; AAL86699.1; -; Genomic_DNA.
DR EMBL; AL136624; CAB66559.1; -; mRNA.
DR EMBL; AF370383; AAQ15219.1; -; mRNA.
DR EMBL; AK313398; BAG36196.1; -; mRNA.
DR EMBL; AL031782; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL034452; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL513530; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC045597; AAH45597.1; ALT_FRAME; mRNA.
DR EMBL; BC126108; AAI26109.1; -; mRNA.
DR CCDS; CCDS55025.1; -. [Q96P44-1]
DR CCDS; CCDS83099.1; -. [Q96P44-3]
DR RefSeq; NP_001305680.1; NM_001318751.1. [Q96P44-1]
DR RefSeq; NP_001305681.1; NM_001318752.1. [Q96P44-3]
DR RefSeq; NP_001305682.1; NM_001318753.1.
DR RefSeq; NP_001305683.1; NM_001318754.1.
DR RefSeq; NP_110447.2; NM_030820.3. [Q96P44-1]
DR RefSeq; XP_011513226.1; XM_011514924.2. [Q96P44-1]
DR RefSeq; XP_011513227.1; XM_011514925.2. [Q96P44-1]
DR RefSeq; XP_011513228.1; XM_011514926.1. [Q96P44-1]
DR RefSeq; XP_011513229.1; XM_011514927.1. [Q96P44-1]
DR AlphaFoldDB; Q96P44; -.
DR SMR; Q96P44; -.
DR BioGRID; 123538; 7.
DR ComplexPortal; CPX-1762; Collagen type XXI trimer.
DR STRING; 9606.ENSP00000244728; -.
DR GlyGen; Q96P44; 2 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q96P44; -.
DR PhosphoSitePlus; Q96P44; -.
DR BioMuta; COL21A1; -.
DR DMDM; 74752071; -.
DR jPOST; Q96P44; -.
DR MassIVE; Q96P44; -.
DR PaxDb; Q96P44; -.
DR PeptideAtlas; Q96P44; -.
DR PRIDE; Q96P44; -.
DR ProteomicsDB; 77615; -. [Q96P44-1]
DR ProteomicsDB; 77616; -. [Q96P44-2]
DR ProteomicsDB; 77617; -. [Q96P44-3]
DR Antibodypedia; 31049; 110 antibodies from 19 providers.
DR DNASU; 81578; -.
DR Ensembl; ENST00000244728.10; ENSP00000244728.5; ENSG00000124749.17. [Q96P44-1]
DR Ensembl; ENST00000370819.5; ENSP00000359855.1; ENSG00000124749.17. [Q96P44-3]
DR GeneID; 81578; -.
DR KEGG; hsa:81578; -.
DR MANE-Select; ENST00000244728.10; ENSP00000244728.5; NM_030820.4; NP_110447.2.
DR UCSC; uc003pcs.4; human. [Q96P44-1]
DR CTD; 81578; -.
DR DisGeNET; 81578; -.
DR GeneCards; COL21A1; -.
DR HGNC; HGNC:17025; COL21A1.
DR HPA; ENSG00000124749; Tissue enhanced (cervix, placenta).
DR MIM; 610002; gene.
DR neXtProt; NX_Q96P44; -.
DR OpenTargets; ENSG00000124749; -.
DR PharmGKB; PA26714; -.
DR VEuPathDB; HostDB:ENSG00000124749; -.
DR eggNOG; KOG3544; Eukaryota.
DR GeneTree; ENSGT00940000162318; -.
DR HOGENOM; CLU_001074_18_0_1; -.
DR InParanoid; Q96P44; -.
DR OMA; CMNGPSD; -.
DR PhylomeDB; Q96P44; -.
DR TreeFam; TF332934; -.
DR PathwayCommons; Q96P44; -.
DR Reactome; R-HSA-1650814; Collagen biosynthesis and modifying enzymes.
DR Reactome; R-HSA-8948216; Collagen chain trimerization.
DR BioGRID-ORCS; 81578; 6 hits in 1059 CRISPR screens.
DR ChiTaRS; COL21A1; human.
DR GenomeRNAi; 81578; -.
DR Pharos; Q96P44; Tbio.
DR PRO; PR:Q96P44; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q96P44; protein.
DR Bgee; ENSG00000124749; Expressed in blood vessel layer and 166 other tissues.
DR ExpressionAtlas; Q96P44; baseline and differential.
DR Genevisible; Q96P44; HS.
DR GO; GO:0005581; C:collagen trimer; IEA:UniProtKB-KW.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:BHF-UCL.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR Gene3D; 3.40.50.410; -; 1.
DR InterPro; IPR008160; Collagen.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR001791; Laminin_G.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR Pfam; PF01391; Collagen; 6.
DR Pfam; PF00092; VWA; 1.
DR SMART; SM00210; TSPN; 1.
DR SMART; SM00327; VWA; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR SUPFAM; SSF53300; SSF53300; 1.
DR PROSITE; PS50234; VWFA; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Collagen; Cytoplasm; Extracellular matrix;
KW Glycoprotein; Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..957
FT /note="Collagen alpha-1(XXI) chain"
FT /id="PRO_0000317613"
FT DOMAIN 37..211
FT /note="VWFA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT DOMAIN 230..412
FT /note="Laminin G-like"
FT DOMAIN 448..500
FT /note="Collagen-like 1"
FT DOMAIN 501..542
FT /note="Collagen-like 2"
FT DOMAIN 543..594
FT /note="Collagen-like 3"
FT DOMAIN 681..733
FT /note="Collagen-like 4"
FT DOMAIN 734..787
FT /note="Collagen-like 5"
FT DOMAIN 825..882
FT /note="Collagen-like 6"
FT DOMAIN 884..934
FT /note="Collagen-like 7"
FT REGION 448..786
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 825..938
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 828..842
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 888..908
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 62
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..600
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15498874"
FT /id="VSP_031083"
FT VAR_SEQ 427..429
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11863369"
FT /id="VSP_031084"
FT VAR_SEQ 601..604
FT /note="RGEP -> MIAS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15498874"
FT /id="VSP_031085"
FT VAR_SEQ 803..836
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15498874"
FT /id="VSP_031086"
FT VARIANT 277
FT /note="L -> P (in dbSNP:rs2764043)"
FT /id="VAR_038555"
FT VARIANT 343
FT /note="T -> M (in dbSNP:rs35471617)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038556"
FT VARIANT 495
FT /note="I -> T (in dbSNP:rs35583895)"
FT /id="VAR_038557"
FT VARIANT 560
FT /note="G -> S (in dbSNP:rs9382581)"
FT /id="VAR_038558"
FT VARIANT 747
FT /note="A -> D (in dbSNP:rs9464337)"
FT /id="VAR_038559"
FT VARIANT 821
FT /note="L -> P (in dbSNP:rs12209452)"
FT /id="VAR_038560"
FT VARIANT 827
FT /note="P -> A (in dbSNP:rs1555131)"
FT /id="VAR_038561"
FT CONFLICT 129
FT /note="A -> D (in Ref. 3; CAB66559)"
FT /evidence="ECO:0000305"
FT CONFLICT 780
FT /note="L -> W (in Ref. 7; AAH45597)"
FT /evidence="ECO:0000305"
FT CONFLICT 802
FT /note="R -> K (in Ref. 7; AAH45597)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 957 AA; 99369 MW; 4C5CDF5E6656A675 CRC64;
MAHYITFLCM VLVLLLQNSV LAEDGEVRSS CRTAPTDLVF ILDGSYSVGP ENFEIVKKWL
VNITKNFDIG PKFIQVGVVQ YSDYPVLEIP LGSYDSGEHL TAAVESILYL GGNTKTGKAI
QFALDYLFAK SSRFLTKIAV VLTDGKSQDD VKDAAQAARD SKITLFAIGV GSETEDAELR
AIANKPSSTY VFYVEDYIAI SKIREVMKQK LCEESVCPTR IPVAARDERG FDILLGLDVN
KKVKKRIQLS PKKIKGYEVT SKVDLSELTS NVFPEGLPPS YVFVSTQRFK VKKIWDLWRI
LTIDGRPQIA VTLNGVDKIL LFTTTSVING SQVVTFANPQ VKTLFDEGWH QIRLLVTEQD
VTLYIDDQQI ENKPLHPVLG ILINGQTQIG KYSGKEETVQ FDVQKLRIYC DPEQNNRETA
CEIPGFNGEC LNGPSDVGST PAPCICPPGK PGLQGPKGDP GLPGNPGYPG QPGQDGKPGY
QGIAGTPGVP GSPGIQGARG LPGYKGEPGR DGDKGDRGLP GFPGLHGMPG SKGEMGAKGD
KGSPGFYGKK GAKGEKGNAG FPGLPGPAGE PGRHGKDGLM GSPGFKGEAG SPGAPGQDGT
RGEPGIPGFP GNRGLMGQKG EIGPPGQQGK KGAPGMPGLM GSNGSPGQPG TPGSKGSKGE
PGIQGMPGAS GLKGEPGATG SPGEPGYMGL PGIQGKKGDK GNQGEKGIQG QKGENGRQGI
PGQQGIQGHH GAKGERGEKG EPGVRGAIGS KGESGVDGLM GPAGPKGQPG DPGPQGPPGL
DGKPGREFSE QFIRQVCTDV IRAQLPVLLQ SGRIRNCDHC LSQHGSPGIP GPPGPIGPEG
PRGLPGLPGR DGVPGLVGVP GRPGVRGLKG LPGRNGEKGS QGFGYPGEQG PPGPPGPEGP
PGISKEGPPG DPGLPGKDGD HGKPGIQGQP GPPGICDPSL CFSVIARRDP FRKGPNY
