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Diffuse panbronchiolitis critical region protein 1

 DPCR1_HUMAN             Reviewed;         517 AA.
Q3MIW9; C9IZC0; Q658M7; Q8WYN2;
26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
26-FEB-2008, sequence version 2.
20-JUN-2018, entry version 93.
RecName: Full=Diffuse panbronchiolitis critical region protein 1;
Flags: Precursor;
Name=DPCR1; Synonyms=C6orf37, PBLT;
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 2), TISSUE SPECIFICITY, AND
DEVELOPMENTAL STAGE.
TISSUE=Testis;
PubMed=12185533; DOI=10.1007/s00251-002-0470-8;
Matsuzaka Y., Tounai K., Denda A., Tomizawa M., Makino S., Okamoto K.,
Keicho N., Oka A., Kulski J.K., Tamiya G., Inoko H.;
"Identification of novel candidate genes in the diffuse
panbronchiolitis critical region of the class I human MHC.";
Immunogenetics 54:301-309(2002).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Stomach;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LYS-419.
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).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
TISSUE=Peripheral blood leukocyte;
PubMed=16702430; DOI=10.1534/genetics.106.057034;
Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M.,
Anzai T., Kulski J.K., Kikkawa E., Naruse T., Kimura N., Yanagiya K.,
Watanabe A., Hosomichi K., Kohara S., Iwamoto C., Umehara Y.,
Meyer A., Wanner V., Sano K., Macquin C., Ikeo K., Tokunaga K.,
Gojobori T., Inoko H., Bahram S.;
"Rapid evolution of major histocompatibility complex class I genes in
primates generates new disease alleles in humans via hitchhiking
diversity.";
Genetics 173:1555-1570(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Colon;
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: Membrane {ECO:0000305}; Single-pass type I
membrane protein {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q3MIW9-1; Sequence=Displayed;
Name=2;
IsoId=Q3MIW9-2; Sequence=VSP_031268, VSP_031269;
-!- TISSUE SPECIFICITY: Detected in lung, esophagus, stomach, rectum,
skin, cervix, testis, kidney, uterus and small intestine.
{ECO:0000269|PubMed:12185533}.
-!- DEVELOPMENTAL STAGE: Expressed in fetal heart, kidney and lung.
{ECO:0000269|PubMed:12185533}.
-!- SEQUENCE CAUTION:
Sequence=CAH56248.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Sequence=CAI18455.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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EMBL; AB064272; BAB82383.1; -; mRNA.
EMBL; AL833738; CAH56248.1; ALT_INIT; mRNA.
EMBL; AL662854; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL773541; CAI18455.2; ALT_SEQ; Genomic_DNA.
EMBL; AB110931; BAD13697.1; -; Genomic_DNA.
EMBL; AB110932; BAD13698.1; -; Genomic_DNA.
EMBL; AB202102; BAE78623.1; -; Genomic_DNA.
EMBL; BC069477; AAH69477.1; -; mRNA.
EMBL; BC101661; AAI01662.1; -; mRNA.
EMBL; BC101663; AAI01664.1; -; mRNA.
RefSeq; NP_543146.2; NM_080870.3.
UniGene; Hs.631993; -.
ProteinModelPortal; Q3MIW9; -.
BioGrid; 126433; 1.
IntAct; Q3MIW9; 9.
iPTMnet; Q3MIW9; -.
PhosphoSitePlus; Q3MIW9; -.
BioMuta; DPCR1; -.
DMDM; 172046709; -.
PeptideAtlas; Q3MIW9; -.
PRIDE; Q3MIW9; -.
ProteomicsDB; 61797; -.
ProteomicsDB; 61798; -. [Q3MIW9-2]
DNASU; 135656; -.
Ensembl; ENST00000304311; ENSP00000305948; ENSG00000168631. [Q3MIW9-1]
Ensembl; ENST00000546848; ENSP00000448383; ENSG00000232251. [Q3MIW9-1]
Ensembl; ENST00000547331; ENSP00000446847; ENSG00000229284. [Q3MIW9-1]
GeneID; 135656; -.
KEGG; hsa:135656; -.
UCSC; uc063mxo.1; human. [Q3MIW9-1]
CTD; 135656; -.
DisGeNET; 135656; -.
EuPathDB; HostDB:ENSG00000168631.11; -.
GeneCards; DPCR1; -.
HGNC; HGNC:21666; DPCR1.
HPA; HPA014036; -.
MalaCards; DPCR1; -.
MIM; 613928; gene.
neXtProt; NX_Q3MIW9; -.
OpenTargets; ENSG00000168631; -.
Orphanet; 171700; Diffuse panbronchiolitis.
PharmGKB; PA134926573; -.
GeneTree; ENSGT00390000016847; -.
HOGENOM; HOG000112255; -.
HOVERGEN; HBG107821; -.
InParanoid; Q3MIW9; -.
OrthoDB; EOG091G0D5Q; -.
PhylomeDB; Q3MIW9; -.
ChiTaRS; DPCR1; human.
GenomeRNAi; 135656; -.
PRO; PR:Q3MIW9; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000168631; -.
CleanEx; HS_DPCR1; -.
ExpressionAtlas; Q3MIW9; baseline and differential.
Genevisible; Q3MIW9; HS.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
InterPro; IPR026623; DPCR1.
PANTHER; PTHR22094; PTHR22094; 1.
2: Evidence at transcript level;
Alternative splicing; Complete proteome; Glycoprotein; Membrane;
Polymorphism; Reference proteome; Signal; Transmembrane;
Transmembrane helix.
SIGNAL 1 29 {ECO:0000255}.
CHAIN 30 517 Diffuse panbronchiolitis critical region
protein 1.
/FTId=PRO_0000318686.
TOPO_DOM 30 448 Extracellular. {ECO:0000255}.
TRANSMEM 449 469 Helical. {ECO:0000255}.
TOPO_DOM 470 517 Cytoplasmic. {ECO:0000255}.
COMPBIAS 172 416 Thr-rich.
CARBOHYD 88 88 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 124 124 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 338 338 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 315 Missing (in isoform 2).
{ECO:0000303|PubMed:12185533,
ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:17974005}.
/FTId=VSP_031268.
VAR_SEQ 316 316 K -> MTQVTEKSTEHPEKTTSTTEKTTRTPEKPTLYSE
(in isoform 2).
{ECO:0000303|PubMed:12185533,
ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:17974005}.
/FTId=VSP_031269.
VARIANT 337 337 G -> R (in dbSNP:rs11970154).
/FTId=VAR_038857.
VARIANT 419 419 E -> K (in dbSNP:rs3132580).
{ECO:0000269|PubMed:14574404}.
/FTId=VAR_038858.
VARIANT 517 517 R -> Q (in dbSNP:rs2240804).
/FTId=VAR_038859.
SEQUENCE 517 AA; 56347 MW; E666F46C167602AF CRC64;
MAQPVHSLCS AFGLQCCLLF LLASWGAGAT TFQEYQKTGE LSTSDHIFPL TPGLVYSIPF
DHIVLHSGQR PPELPKSTEI HEQKRHCNTT RHSKPTDKPT GNSKTIDHKS STDNHEAPPT
SEENSSNQGK DPMIRNQRSV DPADSTTTHK ESAGKKHITP APKSKINCRK STTGKSTVTR
KSDKTGRPLE KSMSTLDKTS TSSHKTTTSF HNSGNSQTKQ KSTSFPEKIT AASKTTYKTT
GTPEESEKTE DSRTTVASDK LLTKTTKNIQ ETISANELTQ SLAEPTEHGG RTANENNTPS
PAEPTENRER TANENKKTIC TKGKNTPVPE KPTENLGNTT LTTETIKAPV KSTENPEKTA
AVTKTIKPSV KVTGDKSLTT TSSHLNKTEV THQVPTGSFT LITSRTKLSS ITSEATGNES
HPYLNKDGSQ KGIHAGQMGE NDSFPAWAIV IVVLVAVILL LVFLGLIFLV SYMMRTRRTL
TQNTQYNDAE DEGGPNSYPV YLMEQQNLGM GQIPSPR


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