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Collagen alpha-1(XXI) chain

 COLA1_HUMAN             Reviewed;         957 AA.
Q96P44; A6NIX5; B2R8J9; Q49A51; Q71RF4; Q8WXV8; Q9H0V3;
05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
01-DEC-2001, sequence version 1.
23-MAY-2018, entry version 143.
RecName: Full=Collagen alpha-1(XXI) chain;
Flags: Precursor;
Name=COL21A1; Synonyms=COL1AL; ORFNames=FP633;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
PubMed=11566190; DOI=10.1016/S0014-5793(01)02754-5;
Fitzgerald J., Bateman J.F.;
"A new FACIT of the collagen family: COL21A1.";
FEBS Lett. 505:275-280(2001).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 3),
DEVELOPMENTAL STAGE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND
INDUCTION BY PDGF.
PubMed=11863369; DOI=10.1006/geno.2002.6712;
Chou M.-Y., Li H.-C.;
"Genomic organization and characterization of the human type XXI
collagen (COL21A1) gene.";
Genomics 79:395-401(2002).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=11230166; DOI=10.1101/gr.GR1547R;
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
Wambutt R., Korn B., Klein M., Poustka A.;
"Towards a catalog of human genes and proteins: sequencing and
analysis of 500 novel complete protein coding human cDNAs.";
Genome Res. 11:422-435(2001).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
PubMed=15498874; DOI=10.1073/pnas.0404089101;
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H.,
Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y.,
Shu H., Chen X., Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S.,
Gu J.;
"Large-scale cDNA transfection screening for genes related to cancer
development and progression.";
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
MET-343.
TISSUE=Trachea;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=14574404; DOI=10.1038/nature02055;
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
-!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
matrix {ECO:0000269|PubMed:11863369}. Cytoplasm
{ECO:0000269|PubMed:11863369}. Note=Found in the extracellular
matrix component of blood vessel walls and in the cytoplasm of
cultured human aortic smooth muscle.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q96P44-1; Sequence=Displayed;
Name=2;
IsoId=Q96P44-2; Sequence=VSP_031083, VSP_031085, VSP_031086;
Note=No experimental confirmation available.;
Name=3;
IsoId=Q96P44-3; Sequence=VSP_031084;
Note=No experimental confirmation available.;
-!- 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
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.
{ECO:0000269|PubMed:11566190, ECO:0000269|PubMed:11863369}.
-!- DEVELOPMENTAL STAGE: Highest expression observed at the fetal
stage. Expressed by smooth-muscle cells in the artery wall in a
PDGF-dependent way. {ECO:0000269|PubMed:11863369}.
-!- INDUCTION: Stimulated by PDGF/platelet-derived growth factor.
{ECO:0000269|PubMed:11863369}.
-!- SIMILARITY: Belongs to the fibril-associated collagens with
interrupted helices (FACIT) family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH45597.1; Type=Frameshift; Positions=478; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AF414088; AAL02227.1; -; mRNA.
EMBL; AF330693; AAL50033.1; -; mRNA.
EMBL; AF438327; AAL86699.1; -; Genomic_DNA.
EMBL; AL136624; CAB66559.1; -; mRNA.
EMBL; AF370383; AAQ15219.1; -; mRNA.
EMBL; AK313398; BAG36196.1; -; mRNA.
EMBL; AL031782; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL034452; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL513530; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC045597; AAH45597.1; ALT_FRAME; mRNA.
EMBL; BC126108; AAI26109.1; -; mRNA.
CCDS; CCDS55025.1; -. [Q96P44-1]
CCDS; CCDS83099.1; -. [Q96P44-3]
RefSeq; NP_001305680.1; NM_001318751.1. [Q96P44-1]
RefSeq; NP_001305681.1; NM_001318752.1. [Q96P44-3]
RefSeq; NP_001305682.1; NM_001318753.1.
RefSeq; NP_001305683.1; NM_001318754.1.
RefSeq; NP_110447.2; NM_030820.3. [Q96P44-1]
RefSeq; XP_011513226.1; XM_011514924.2. [Q96P44-1]
RefSeq; XP_011513227.1; XM_011514925.2. [Q96P44-1]
RefSeq; XP_011513228.1; XM_011514926.1. [Q96P44-1]
RefSeq; XP_011513229.1; XM_011514927.1. [Q96P44-1]
UniGene; Hs.47629; -.
ProteinModelPortal; Q96P44; -.
SMR; Q96P44; -.
BioGrid; 123538; 5.
STRING; 9606.ENSP00000244728; -.
iPTMnet; Q96P44; -.
PhosphoSitePlus; Q96P44; -.
BioMuta; COL21A1; -.
DMDM; 74752071; -.
PaxDb; Q96P44; -.
PeptideAtlas; Q96P44; -.
PRIDE; Q96P44; -.
Ensembl; ENST00000244728; ENSP00000244728; ENSG00000124749. [Q96P44-1]
Ensembl; ENST00000370819; ENSP00000359855; ENSG00000124749. [Q96P44-3]
GeneID; 81578; -.
KEGG; hsa:81578; -.
UCSC; uc003pcs.4; human. [Q96P44-1]
CTD; 81578; -.
DisGeNET; 81578; -.
EuPathDB; HostDB:ENSG00000124749.16; -.
GeneCards; COL21A1; -.
HGNC; HGNC:17025; COL21A1.
HPA; HPA031210; -.
HPA; HPA031212; -.
HPA; HPA031213; -.
MIM; 610002; gene.
neXtProt; NX_Q96P44; -.
OpenTargets; ENSG00000124749; -.
PharmGKB; PA26714; -.
eggNOG; ENOG410IS78; Eukaryota.
eggNOG; ENOG41100RI; LUCA.
GeneTree; ENSGT00900000140804; -.
HOVERGEN; HBG106599; -.
InParanoid; Q96P44; -.
KO; K16629; -.
OMA; DGLMGPA; -.
OrthoDB; EOG091G002N; -.
PhylomeDB; Q96P44; -.
TreeFam; TF332934; -.
Reactome; R-HSA-1650814; Collagen biosynthesis and modifying enzymes.
Reactome; R-HSA-8948216; Collagen chain trimerization.
GenomeRNAi; 81578; -.
PRO; PR:Q96P44; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000124749; -.
CleanEx; HS_COL21A1; -.
ExpressionAtlas; Q96P44; baseline and differential.
Genevisible; Q96P44; HS.
GO; GO:0005581; C:collagen trimer; IEA:UniProtKB-KW.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0005578; C:proteinaceous extracellular matrix; IEA:UniProtKB-SubCell.
Gene3D; 3.40.50.410; -; 1.
InterPro; IPR008160; Collagen.
InterPro; IPR013320; ConA-like_dom_sf.
InterPro; IPR001791; Laminin_G.
InterPro; IPR002035; VWF_A.
InterPro; IPR036465; vWFA_dom_sf.
Pfam; PF01391; Collagen; 6.
Pfam; PF00092; VWA; 1.
SMART; SM00210; TSPN; 1.
SMART; SM00327; VWA; 1.
SUPFAM; SSF49899; SSF49899; 1.
SUPFAM; SSF53300; SSF53300; 1.
PROSITE; PS50234; VWFA; 1.
2: Evidence at transcript level;
Alternative splicing; Collagen; Complete proteome; Cytoplasm;
Extracellular matrix; Glycoprotein; Polymorphism; Reference proteome;
Repeat; Secreted; Signal.
SIGNAL 1 22 {ECO:0000255}.
CHAIN 23 957 Collagen alpha-1(XXI) chain.
/FTId=PRO_0000317613.
DOMAIN 37 211 VWFA. {ECO:0000255|PROSITE-
ProRule:PRU00219}.
DOMAIN 230 412 Laminin G-like.
DOMAIN 448 500 Collagen-like 1.
DOMAIN 501 542 Collagen-like 2.
DOMAIN 543 594 Collagen-like 3.
DOMAIN 681 733 Collagen-like 4.
DOMAIN 734 787 Collagen-like 5.
DOMAIN 825 882 Collagen-like 6.
DOMAIN 884 934 Collagen-like 7.
CARBOHYD 62 62 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 600 Missing (in isoform 2).
{ECO:0000303|PubMed:15498874}.
/FTId=VSP_031083.
VAR_SEQ 427 429 Missing (in isoform 3).
{ECO:0000303|PubMed:11863369}.
/FTId=VSP_031084.
VAR_SEQ 601 604 RGEP -> MIAS (in isoform 2).
{ECO:0000303|PubMed:15498874}.
/FTId=VSP_031085.
VAR_SEQ 803 836 Missing (in isoform 2).
{ECO:0000303|PubMed:15498874}.
/FTId=VSP_031086.
VARIANT 277 277 L -> P (in dbSNP:rs2764043).
/FTId=VAR_038555.
VARIANT 343 343 T -> M (in dbSNP:rs35471617).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_038556.
VARIANT 495 495 I -> T (in dbSNP:rs35583895).
/FTId=VAR_038557.
VARIANT 560 560 G -> S (in dbSNP:rs9382581).
/FTId=VAR_038558.
VARIANT 747 747 A -> D (in dbSNP:rs9464337).
/FTId=VAR_038559.
VARIANT 821 821 L -> P (in dbSNP:rs12209452).
/FTId=VAR_038560.
VARIANT 827 827 P -> A (in dbSNP:rs1555131).
/FTId=VAR_038561.
CONFLICT 129 129 A -> D (in Ref. 3; CAB66559).
{ECO:0000305}.
CONFLICT 780 780 L -> W (in Ref. 7; AAH45597).
{ECO:0000305}.
CONFLICT 802 802 R -> K (in Ref. 7; AAH45597).
{ECO:0000305}.
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


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