MUCL3_HUMAN
ID MUCL3_HUMAN Reviewed; 517 AA.
AC Q3MIW9; C9IZC0; Q658M7; Q8WYN2;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Mucin-like protein 3 {ECO:0000305};
DE AltName: Full=Diffuse panbronchiolitis critical region protein 1 {ECO:0000303|PubMed:29242154};
DE Flags: Precursor;
GN Name=MUCL3 {ECO:0000312|HGNC:HGNC:21666};
GN Synonyms=C6orf37, DPCR1 {ECO:0000303|PubMed:29242154,
GN ECO:0000312|HGNC:HGNC:21666}, PBLT;
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 2), TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC TISSUE=Testis;
RX PubMed=12185533; DOI=10.1007/s00251-002-0470-8;
RA Matsuzaka Y., Tounai K., Denda A., Tomizawa M., Makino S., Okamoto K.,
RA Keicho N., Oka A., Kulski J.K., Tamiya G., Inoko H.;
RT "Identification of novel candidate genes in the diffuse panbronchiolitis
RT critical region of the class I human MHC.";
RL Immunogenetics 54:301-309(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Stomach;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LYS-419.
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC TISSUE=Peripheral blood leukocyte;
RX PubMed=16702430; DOI=10.1534/genetics.106.057034;
RA Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M.,
RA Anzai T., Kulski J.K., Kikkawa E., Naruse T., Kimura N., Yanagiya K.,
RA Watanabe A., Hosomichi K., Kohara S., Iwamoto C., Umehara Y., Meyer A.,
RA Wanner V., Sano K., Macquin C., Ikeo K., Tokunaga K., Gojobori T.,
RA Inoko H., Bahram S.;
RT "Rapid evolution of major histocompatibility complex class I genes in
RT primates generates new disease alleles in humans via hitchhiking
RT diversity.";
RL Genetics 173:1555-1570(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Colon;
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).
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=29242154; DOI=10.1016/j.bbrc.2017.12.031;
RA Yan J., Chen G., Zhao X., Chen F., Wang T., Miao F.;
RT "High expression of diffuse panbronchiolitis critical region 1 gene
RT promotes cell proliferation, migration and invasion in pancreatic ductal
RT adenocarcinoma.";
RL Biochem. Biophys. Res. Commun. 495:1908-1914(2018).
CC -!- FUNCTION: May modulate NF-kappaB signaling and play a role in cell
CC growth. {ECO:0000269|PubMed:29242154}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29242154};
CC Single-pass type I membrane protein {ECO:0000305}. Cytoplasm
CC {ECO:0000269|PubMed:29242154}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3MIW9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3MIW9-2; Sequence=VSP_031268, VSP_031269;
CC -!- TISSUE SPECIFICITY: Detected in lung, esophagus, stomach, rectum, skin,
CC cervix, testis, kidney, uterus and small intestine (PubMed:12185533).
CC Expressed in pancreas (at protein level) (PubMed:29242154).
CC {ECO:0000269|PubMed:12185533, ECO:0000269|PubMed:29242154}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal heart, kidney and lung.
CC {ECO:0000269|PubMed:12185533}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAH56248.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB064272; BAB82383.1; -; mRNA.
DR EMBL; AL833738; CAH56248.1; ALT_INIT; mRNA.
DR EMBL; AL662854; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL773541; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB110931; BAD13697.1; -; Genomic_DNA.
DR EMBL; AB110932; BAD13698.1; -; Genomic_DNA.
DR EMBL; AB202102; BAE78623.1; -; Genomic_DNA.
DR EMBL; BC069477; AAH69477.1; -; mRNA.
DR EMBL; BC101661; AAI01662.1; -; mRNA.
DR EMBL; BC101663; AAI01664.1; -; mRNA.
DR RefSeq; NP_543146.2; NM_080870.3.
DR AlphaFoldDB; Q3MIW9; -.
DR BioGRID; 126433; 1.
DR STRING; 9606.ENSP00000417182; -.
DR GlyGen; Q3MIW9; 3 sites.
DR iPTMnet; Q3MIW9; -.
DR PhosphoSitePlus; Q3MIW9; -.
DR BioMuta; DPCR1; -.
DR DMDM; 172046709; -.
DR jPOST; Q3MIW9; -.
DR MassIVE; Q3MIW9; -.
DR PeptideAtlas; Q3MIW9; -.
DR PRIDE; Q3MIW9; -.
DR ProteomicsDB; 61797; -. [Q3MIW9-1]
DR ProteomicsDB; 61798; -. [Q3MIW9-2]
DR Antibodypedia; 2593; 169 antibodies from 22 providers.
DR DNASU; 135656; -.
DR Ensembl; ENST00000304311.3; ENSP00000305948.3; ENSG00000168631.13. [Q3MIW9-1]
DR Ensembl; ENST00000546848.1; ENSP00000448383.1; ENSG00000232251.5. [Q3MIW9-1]
DR Ensembl; ENST00000547331.1; ENSP00000446847.1; ENSG00000229284.4. [Q3MIW9-1]
DR GeneID; 135656; -.
DR KEGG; hsa:135656; -.
DR UCSC; uc063mxo.1; human. [Q3MIW9-1]
DR CTD; 135656; -.
DR DisGeNET; 135656; -.
DR GeneCards; MUCL3; -.
DR HGNC; HGNC:21666; MUCL3.
DR HPA; ENSG00000168631; Tissue enriched (stomach).
DR MalaCards; MUCL3; -.
DR MIM; 613928; gene.
DR neXtProt; NX_Q3MIW9; -.
DR OpenTargets; ENSG00000168631; -.
DR Orphanet; 171700; Diffuse panbronchiolitis.
DR PharmGKB; PA134926573; -.
DR VEuPathDB; HostDB:ENSG00000168631; -.
DR GeneTree; ENSGT00390000016847; -.
DR HOGENOM; CLU_040657_1_0_1; -.
DR InParanoid; Q3MIW9; -.
DR OrthoDB; 840286at2759; -.
DR PhylomeDB; Q3MIW9; -.
DR PathwayCommons; Q3MIW9; -.
DR BioGRID-ORCS; 135656; 14 hits in 1058 CRISPR screens.
DR ChiTaRS; FAM46A; human.
DR GenomeRNAi; 135656; -.
DR Pharos; Q3MIW9; Tbio.
DR PRO; PR:Q3MIW9; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q3MIW9; protein.
DR Bgee; ENSG00000168631; Expressed in mucosa of stomach and 37 other tissues.
DR ExpressionAtlas; Q3MIW9; baseline and differential.
DR Genevisible; Q3MIW9; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR InterPro; IPR026623; MUCL3.
DR PANTHER; PTHR22094; PTHR22094; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cytoplasm; Glycoprotein; Membrane;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..29
FT /evidence="ECO:0000255"
FT CHAIN 30..517
FT /note="Mucin-like protein 3"
FT /id="PRO_0000318686"
FT TOPO_DOM 30..448
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 449..469
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 470..517
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 67..341
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 75..116
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 117..143
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 144..158
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 176..191
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 192..240
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 241..257
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 258..306
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 88
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 124
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 338
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..315
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12185533,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_031268"
FT VAR_SEQ 316
FT /note="K -> MTQVTEKSTEHPEKTTSTTEKTTRTPEKPTLYSE (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:12185533,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_031269"
FT VARIANT 337
FT /note="G -> R (in dbSNP:rs11970154)"
FT /id="VAR_038857"
FT VARIANT 419
FT /note="E -> K (in dbSNP:rs3132580)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_038858"
FT VARIANT 517
FT /note="R -> Q (in dbSNP:rs2240804)"
FT /id="VAR_038859"
SQ 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
