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Protein

Mucin-12

Gene

MUC12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF-beta in intestinal epithelium.1 Publication

GO - Biological processi

  • O-glycan processing Source: Reactome
  • regulation of cell growth Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-5083625. Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC).
R-HSA-5083632. Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS).
R-HSA-5083636. Defective GALNT12 causes colorectal cancer 1 (CRCS1).
R-HSA-913709. O-linked glycosylation of mucins.
R-HSA-977068. Termination of O-glycan biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Mucin-12
Short name:
MUC-12
Alternative name(s):
Mucin-11
Short name:
MUC-11
Gene namesi
Name:MUC12
Synonyms:MUC11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:7510. MUC12.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini17 – 53805364ExtracellularSequence analysisAdd
BLAST
Transmembranei5381 – 540121HelicalSequence analysisAdd
BLAST
Topological domaini5402 – 547877CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • Golgi lumen Source: Reactome
  • integral component of plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Polymorphism and mutation databases

DMDMi187609692.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1616Sequence analysisAdd
BLAST
Chaini17 – 54785462Mucin-12PRO_0000331620Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi154 – 1541N-linked (GlcNAc...)Sequence analysis
Glycosylationi170 – 1701N-linked (GlcNAc...)Sequence analysis
Glycosylationi176 – 1761N-linked (GlcNAc...)Sequence analysis
Glycosylationi382 – 3821N-linked (GlcNAc...)Sequence analysis
Glycosylationi738 – 7381N-linked (GlcNAc...)Sequence analysis
Glycosylationi1793 – 17931N-linked (GlcNAc...)Sequence analysis
Glycosylationi3350 – 33501N-linked (GlcNAc...)Sequence analysis
Glycosylationi4433 – 44331N-linked (GlcNAc...)Sequence analysis
Glycosylationi4571 – 45711N-linked (GlcNAc...)Sequence analysis
Disulfide bondi5144 ↔ 5153By similarity
Glycosylationi5169 – 51691N-linked (GlcNAc...)Sequence analysis
Glycosylationi5182 – 51821N-linked (GlcNAc...)Sequence analysis
Glycosylationi5197 – 51971N-linked (GlcNAc...)Sequence analysis
Glycosylationi5228 – 52281N-linked (GlcNAc...)Sequence analysis
Glycosylationi5264 – 52641N-linked (GlcNAc...)Sequence analysis

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei5229 – 52302CleavageBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UKN1.
PeptideAtlasiQ9UKN1.
PRIDEiQ9UKN1.

PTM databases

iPTMnetiQ9UKN1.
PhosphoSiteiQ9UKN1.

Expressioni

Tissue specificityi

Ubiquitous, with higher expression in colon. Down-regulated in colorectal cancer as well as in the colon of patients with ulcerative colitis (UC) and Crohn's disease (CD).2 Publications

Inductioni

By listeriolysin O.1 Publication

Gene expression databases

BgeeiENSG00000205277.
CleanExiHS_MUC12.
ExpressionAtlasiQ9UKN1. baseline and differential.
GenevisibleiQ9UKN1. HS.

Organism-specific databases

HPAiHPA023835.

Interactioni

Protein-protein interaction databases

BioGridi115382. 2 interactions.
IntActiQ9UKN1. 2 interactions.
STRINGi9606.ENSP00000441929.

Structurei

3D structure databases

ProteinModelPortaliQ9UKN1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati222 – 240191Add
BLAST
Repeati471 – 489192Add
BLAST
Repeati499 – 517193Add
BLAST
Repeati662 – 680194Add
BLAST
Repeati827 – 845195Add
BLAST
Repeati1159 – 1177196Add
BLAST
Repeati1466 – 1484197Add
BLAST
Repeati1633 – 1651198Add
BLAST
Repeati1717 – 1735199Add
BLAST
Repeati1882 – 19001910Add
BLAST
Repeati1910 – 19281911Add
BLAST
Repeati2075 – 20931912Add
BLAST
Repeati2242 – 22601913Add
BLAST
Repeati2549 – 25671914Add
BLAST
Repeati2716 – 27341915Add
BLAST
Repeati3023 – 30411916Add
BLAST
Repeati3190 – 32081917Add
BLAST
Repeati3274 – 32921918Add
BLAST
Repeati3439 – 34571919Add
BLAST
Repeati3467 – 34851920Add
BLAST
Repeati3632 – 36501921Add
BLAST
Repeati3799 – 38171922Add
BLAST
Repeati4106 – 41241923Add
BLAST
Repeati4273 – 42911924Add
BLAST
Repeati4522 – 45401925Add
BLAST
Repeati4550 – 45681926Add
BLAST
Repeati4715 – 47331927Add
BLAST
Repeati4743 – 47611928Add
BLAST
Domaini5116 – 515439EGF-likeAdd
BLAST
Domaini5168 – 5275108SEAPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni222 – 4761454028 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-PAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi5226 – 52338Cleavage motifBy similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi156 – 50214866Ser-richAdd
BLAST

Domaini

The proteolytic cleavage occurs within the SEA domain. This domain is not interchangeable, suggesting that it is insufficient to mediate efficient cleavage.1 Publication

Sequence similaritiesi

Contains 1 EGF-like domain.Curated
Contains 1 SEA domain.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IK1M. Eukaryota.
ENOG41126RR. LUCA.
GeneTreeiENSGT00730000111040.
HOVERGENiHBG099234.
InParanoidiQ9UKN1.
OMAiSTPTTHF.
OrthoDBiEOG091G00EF.
PhylomeDBiQ9UKN1.
TreeFamiTF344108.

Family and domain databases

InterProiIPR013032. EGF-like_CS.
IPR000082. SEA_dom.
[Graphical view]
PfamiPF01390. SEA. 1 hit.
[Graphical view]
SUPFAMiSSF82671. SSF82671. 1 hit.
PROSITEiPS00022. EGF_1. 1 hit.
PS01186. EGF_2. 1 hit.
PS50024. SEA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UKN1-1) [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
MLVIWILTLA LRLCASVTTV TPEGSAVHKA ISQQGTLWTG EVLEKQTVEQ
60 70 80 90 100
GKSTLRRQKN HFHRSAGELR CRNALKDEGA SAGWSVMFAG ESVVVLVHLW
110 120 130 140 150
MTGARVKNLG LVEFASPGDD GDGRAEGFSL GLPLSEQARA AGAREKERQE
160 170 180 190 200
TVINHSTFSG FSQITGSTVN TSIGGNTTSA STPSSSDPFT TFSDYGVSVT
210 220 230 240 250
FITGSTATKH FLDSSTNSGH SEESTVSHSG PGATGTTLFP SHSATSVFVG
260 270 280 290 300
EPKTSPITSA SMETTALPGS TTTAGLSEKS TTFYSSPRSP DRTLSPARTT
310 320 330 340 350
SSGVSEKSTT SHSRPGPTHT IAFPDSTTMP GVSQESTASH SIPGSTDTTL
360 370 380 390 400
SPGTTTPSSL GPESTTFHSS PGYTKTTRLP DNTTTSGLLE ASTPVHSSTG
410 420 430 440 450
SPHTTLSPSS STTHEGEPTT FQSWPSSKDT SPAPSGTTSA FVKLSTTYHS
460 470 480 490 500
SPSSTPTTHF SASSTTLGHS EESTPVHSSP VATATTPPPA RSATSGHVEE
510 520 530 540 550
STAYHRSPGS TQTMHFPESS TTSGHSEESA TFHGSTTHTK SSTPSTTAAL
560 570 580 590 600
AHTSYHSSLG STETTHFRDS STISGRSEES KASHSSPDAM ATTVLPAGST
610 620 630 640 650
PSVLVGDSTP SPISSGSMET TALPGSTTKP GLSEKSTTFY SSPRSPDTTH
660 670 680 690 700
LPASMTSSGV SEESTTSHSR PGSTHTTAFP GSTTMPGLSQ ESTASHSSPG
710 720 730 740 750
PTDTTLSPGS TTASSLGPEY TTFHSRPGST ETTLLPDNTT ASGLLEASMP
760 770 780 790 800
VHSSTRSPHT TLSPAGSTTR QGESTTFHSW PSSKDTRPAP PTTTSAFVEP
810 820 830 840 850
STTSHGSPSS IPTTHISARS TTSGLVEEST TYHSSPGSTQ TMHFPESDTT
860 870 880 890 900
SGRGEESTTS HSSTTHTISS APSTTSALVE EPTSYHSSPG STATTHFPDS
910 920 930 940 950
STTSGRSEES TASHSSQDAT GTIVLPARST TSVLLGESTT SPISSGSMET
960 970 980 990 1000
TALPGSTTTP GLSERSTTFH SSPRSPATTL SPASTTSSGV SEESTTSRSR
1010 1020 1030 1040 1050
PGSTHTTAFP DSTTTPGLSR HSTTSHSSPG STDTTLLPAS TTTSGPSQES
1060 1070 1080 1090 1100
TTSHSSSGST DTALSPGSTT ALSFGQESTT FHSNPGSTHT TLFPDSTTSS
1110 1120 1130 1140 1150
GIVEASTRVH SSTGSPRTTL SPASSTSPGL QGESTAFQTH PASTHTTPSP
1160 1170 1180 1190 1200
PSTATAPVEE STTYHRSPGS TPTTHFPASS TTSGHSEKST IFHSSPDASG
1210 1220 1230 1240 1250
TTPSSAHSTT SGRGESTTSR ISPGSTEITT LPGSTTTPGL SEASTTFYSS
1260 1270 1280 1290 1300
PRSPTTTLSP ASMTSLGVGE ESTTSRSQPG STHSTVSPAS TTTPGLSEES
1310 1320 1330 1340 1350
TTVYSSSRGS TETTVFPHST TTSVHGEEPT TFHSRPASTH TTLFTEDSTT
1360 1370 1380 1390 1400
SGLTEESTAF PGSPASTQTG LPATLTTADL GEESTTFPSS SGSTGTKLSP
1410 1420 1430 1440 1450
ARSTTSGLVG ESTPSRLSPS STETTTLPGS PTTPSLSEKS TTFYTSPRSP
1460 1470 1480 1490 1500
DATLSPATTT SSGVSEESST SHSQPGSTHT TAFPDSTTTS DLSQEPTTSH
1510 1520 1530 1540 1550
SSQGSTEATL SPGSTTASSL GQQSTTFHSS PGDTETTLLP DDTITSGLVE
1560 1570 1580 1590 1600
ASTPTHSSTG SLHTTLTPAS STSAGLQEES TTFQSWPSSS DTTPSPPGTT
1610 1620 1630 1640 1650
AAPVEVSTTY HSRPSSTPTT HFSASSTTLG RSEESTTVHS SPGATGTALF
1660 1670 1680 1690 1700
PTRSATSVLV GEPTTSPISS GSTETTALPG STTTAGLSEK STTFYSSPRS
1710 1720 1730 1740 1750
PDTTLSPAST TSSGVSEEST TSHSRPGSTH TTAFPGSTTM PGVSQESTAS
1760 1770 1780 1790 1800
HSSPGSTDTT LSPGSTTASS LGPESTTFHS SPGSTETTLL PDNTTASGLL
1810 1820 1830 1840 1850
EASTPVHSST GSPHTTLSPA GSTTRQGEST TFQSWPSSKD TMPAPPTTTS
1860 1870 1880 1890 1900
AFVELSTTSH GSPSSTPTTH FSASSTTLGR SEESTTVHSS PVATATTPSP
1910 1920 1930 1940 1950
ARSTTSGLVE ESTAYHSSPG STQTMHFPES STASGRSEES RTSHSSTTHT
1960 1970 1980 1990 2000
ISSPPSTTSA LVEEPTSYHS SPGSTATTHF PDSSTTSGRS EESTASHSSQ
2010 2020 2030 2040 2050
DATGTIVLPA RSTTSVLLGE STTSPISSGS METTALPGST TTPGLSEKST
2060 2070 2080 2090 2100
TFHSSPRSPA TTLSPASTTS SGVSEESTTS HSRPGSTHTT AFPDSTTTPG
2110 2120 2130 2140 2150
LSRHSTTSHS SPGSTDTTLL PASTTTSGPS QESTTSHSSP GSTDTALSPG
2160 2170 2180 2190 2200
STTALSFGQE STTFHSSPGS THTTLFPDST TSSGIVEAST RVHSSTGSPR
2210 2220 2230 2240 2250
TTLSPASSTS PGLQGESTAF QTHPASTHTT PSPPSTATAP VEESTTYHRS
2260 2270 2280 2290 2300
PGSTPTTHFP ASSTTSGHSE KSTIFHSSPD ASGTTPSSAH STTSGRGEST
2310 2320 2330 2340 2350
TSRISPGSTE ITTLPGSTTT PGLSEASTTF YSSPRSPTTT LSPASMTSLG
2360 2370 2380 2390 2400
VGEESTTSRS QPGSTHSTVS PASTTTPGLS EESTTVYSSS PGSTETTVFP
2410 2420 2430 2440 2450
RTPTTSVRGE EPTTFHSRPA STHTTLFTED STTSGLTEES TAFPGSPAST
2460 2470 2480 2490 2500
QTGLPATLTT ADLGEESTTF PSSSGSTGTT LSPARSTTSG LVGESTPSRL
2510 2520 2530 2540 2550
SPSSTETTTL PGSPTTPSLS EKSTTFYTSP RSPDATLSPA TTTSSGVSEE
2560 2570 2580 2590 2600
SSTSHSQPGS THTTAFPDST TTPGLSRHST TSHSSPGSTD TTLLPASTTT
2610 2620 2630 2640 2650
SGPSQESTTS HSSPGSTDTA LSPGSTTALS FGQESTTFHS SPGSTHTTLF
2660 2670 2680 2690 2700
PDSTTSSGIV EASTRVHSST GSPRTTLSPA SSTSPGLQGE STTFQTHPAS
2710 2720 2730 2740 2750
THTTPSPPST ATAPVEESTT YHRSPGSTPT THFPASSTTS GHSEKSTIFH
2760 2770 2780 2790 2800
SSPDASGTTP SSAHSTTSGR GESTTSRISP GSTEITTLPG STTTPGLSEA
2810 2820 2830 2840 2850
STTFYSSPRS PTTTLSPASM TSLGVGEEST TSRSQPGSTH STVSPASTTT
2860 2870 2880 2890 2900
PGLSEESTTV YSSSPGSTET TVFPRSTTTS VRGEEPTTFH SRPASTHTTL
2910 2920 2930 2940 2950
FTEDSTTSGL TEESTAFPGS PASTQTGLPA TLTTADLGEE STTFPSSSGS
2960 2970 2980 2990 3000
TGTTLSPARS TTSGLVGEST PSRLSPSSTE TTTLPGSPTT PSLSEKSTTF
3010 3020 3030 3040 3050
YTSPRSPDAT LSPATTTSSG VSEESSTSHS QPGSTHTTAF PDSTTTSGLS
3060 3070 3080 3090 3100
QEPTASHSSQ GSTEATLSPG STTASSLGQQ STTFHSSPGD TETTLLPDDT
3110 3120 3130 3140 3150
ITSGLVEAST PTHSSTGSLH TTLTPASSTS AGLQEESTTF QSWPSSSDTT
3160 3170 3180 3190 3200
PSPPGTTAAP VEVSTTYHSR PSSTPTTHFS ASSTTLGRSE ESTTVHSSPG
3210 3220 3230 3240 3250
ATGTALFPTR SATSVLVGEP TTSPISSGST ETTALPGSTT TAGLSEKSTT
3260 3270 3280 3290 3300
FYSSPRSPDT TLSPASTTSS GVSEESTTSH SRPGSTHTTA FPGSTTMPGV
3310 3320 3330 3340 3350
SQESTASHSS PGSTDTTLSP GSTTASSLGP ESTTFHSGPG STETTLLPDN
3360 3370 3380 3390 3400
TTASGLLEAS TPVHSSTGSP HTTLSPAGST TRQGESTTFQ SWPNSKDTTP
3410 3420 3430 3440 3450
APPTTTSAFV ELSTTSHGSP SSTPTTHFSA SSTTLGRSEE STTVHSSPVA
3460 3470 3480 3490 3500
TATTPSPARS TTSGLVEEST TYHSSPGSTQ TMHFPESDTT SGRGEESTTS
3510 3520 3530 3540 3550
HSSTTHTISS APSTTSALVE EPTSYHSSPG STATTHFPDS STTSGRSEES
3560 3570 3580 3590 3600
TASHSSQDAT GTIVLPARST TSVLLGESTT SPISSGSMET TALPGSTTTP
3610 3620 3630 3640 3650
GLSEKSTTFH SSPRSPATTL SPASTTSSGV SEESTTSHSR PGSTHTTAFP
3660 3670 3680 3690 3700
DSTTTPGLSR HSTTSHSSPG STDTTLLPAS TTTSGSSQES TTSHSSSGST
3710 3720 3730 3740 3750
DTALSPGSTT ALSFGQESTT FHSSPGSTHT TLFPDSTTSS GIVEASTRVH
3760 3770 3780 3790 3800
SSTGSPRTTL SPASSTSPGL QGESTAFQTH PASTHTTPSP PSTATAPVEE
3810 3820 3830 3840 3850
STTYHRSPGS TPTTHFPASS TTSGHSEKST IFHSSPDASG TTPSSAHSTT
3860 3870 3880 3890 3900
SGRGESTTSR ISPGSTEITT LPGSTTTPGL SEASTTFYSS PRSPTTTLSP
3910 3920 3930 3940 3950
ASMTSLGVGE ESTTSRSQPG STHSTVSPAS TTTPGLSEES TTVYSSSPGS
3960 3970 3980 3990 4000
TETTVFPRST TTSVRREEPT TFHSRPASTH TTLFTEDSTT SGLTEESTAF
4010 4020 4030 4040 4050
PGSPASTQTG LPATLTTADL GEESTTFPSS SGSTGTKLSP ARSTTSGLVG
4060 4070 4080 4090 4100
ESTPSRLSPS STETTTLPGS PTTPSLSEKS TTFYTSPRSP DATLSPATTT
4110 4120 4130 4140 4150
SSGVSEESST SHSQPGSTHT TAFPDSTTTS GLSQEPTTSH SSQGSTEATL
4160 4170 4180 4190 4200
SPGSTTASSL GQQSTTFHSS PGDTETTLLP DDTITSGLVE ASTPTHSSTG
4210 4220 4230 4240 4250
SLHTTLTPAS STSTGLQEES TTFQSWPSSS DTTPSPPSTT AVPVEVSTTY
4260 4270 4280 4290 4300
HSRPSSTPTT HFSASSTTLG RSEESTTVHS SPGATGTALF PTRSATSVLV
4310 4320 4330 4340 4350
GEPTTSPISS GSTETTALPG STTTAGLSEK STTFYSSPRS PDTTLSPAST
4360 4370 4380 4390 4400
TSSGVSEEST TSHSRPGSMH TTAFPSSTTM PGVSQESTAS HSSPGSTDTT
4410 4420 4430 4440 4450
LSPGSTTASS LGPESTTFHS SPGSTETTLL PDNTTASGLL EASTPVHSST
4460 4470 4480 4490 4500
GSPHTTLSPA GSTTRQGEST TFQSWPNSKD TTPAPPTTTS AFVELSTTSH
4510 4520 4530 4540 4550
GSPSSTPTTH FSASSTTLGR SEESTTVHSS PVATATTPSP ARSTTSGLVE
4560 4570 4580 4590 4600
ESTTYHSSPG STQTMHFPES NTTSGRGEES TTSHSSTTHT ISSAPSTTSA
4610 4620 4630 4640 4650
LVEEPTSYHS SPGSTATTHF PDSSTTSGRS EESTASHSSQ DATGTIVLPA
4660 4670 4680 4690 4700
RSTTSVLLGE STTSPISSGS METTALPGST TTPGLSEKST TFHSSPSSTP
4710 4720 4730 4740 4750
TTHFSASSTT LGRSEESTTV HSSPVATATT PSPARSTTSG LVEESTAYHS
4760 4770 4780 4790 4800
SPGSTQTMHF PESSTASGRS EESRTSHSST THTISSPPST TSALVEEPTS
4810 4820 4830 4840 4850
YHSSPGSIAT THFPESSTTS GRSEESTASH SSPDTNGITP LPAHFTTSGR
4860 4870 4880 4890 4900
IAESTTFYIS PGSMETTLAS TATTPGLSAK STILYSSSRS PDQTLSPASM
4910 4920 4930 4940 4950
TSSSISGEPT SLYSQAESTH TTAFPASTTT SGLSQESTTF HSKPGSTETT
4960 4970 4980 4990 5000
LSPGSITTSS FAQEFTTPHS QPGSALSTVS PASTTVPGLS EESTTFYSSP
5010 5020 5030 5040 5050
GSTETTAFSH SNTMSIHSQQ STPFPDSPGF THTVLPATLT TTDIGQESTA
5060 5070 5080 5090 5100
FHSSSDATGT TPLPARSTAS DLVGEPTTFY ISPSPTYTTL FPASSSTSGL
5110 5120 5130 5140 5150
TEESTTFHTS PSFTSTIVST ESLETLAPGL CQEGQIWNGK QCVCPQGYVG
5160 5170 5180 5190 5200
YQCLSPLESF PVETPEKLNA TLGMTVKVTY RNFTEKMNDA SSQEYQNFST
5210 5220 5230 5240 5250
LFKNRMDVVL KGDNLPQYRG VNIRRLLNGS IVVKNDVILE ADYTLEYEEL
5260 5270 5280 5290 5300
FENLAEIVKA KIMNETRTTL LDPDSCRKAI LCYSEEDTFV DSSVTPGFDF
5310 5320 5330 5340 5350
QEQCTQKAAE GYTQFYYVDV LDGKLACVNK CTKGTKSQMN CNLGTCQLQR
5360 5370 5380 5390 5400
SGPRCLCPNT NTHWYWGETC EFNIAKSLVY GIVGAVMAVL LLALIILIIL
5410 5420 5430 5440 5450
FSLSQRKRHR EQYDVPQEWR KEGTPGIFQK TAIWEDQNLR ESRFGLENAY
5460 5470
NNFRPTLETV DSGTELHIQR PEMVASTV
Note: No experimental confirmation available.
Length:5,478
Mass (Da):558,164
Last modified:April 29, 2008 - v2
Checksum:i6157CF28FEDDA0E5
GO
Isoform 2 (identifier: Q9UKN1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-165: Missing.

Note: No experimental confirmation available.
Show »
Length:5,335
Mass (Da):542,703
Checksum:iCD7AB1285CD3E1BE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti3283 – 32864PGST → RNRP in AAD55679 (PubMed:10463611).Curated
Sequence conflicti3556 – 35561S → N in AAD55679 (PubMed:10463611).Curated
Sequence conflicti3686 – 36861S → P in AAD55679 (PubMed:10463611).Curated
Sequence conflicti3697 – 36971S → P in AAD55679 (PubMed:10463611).Curated
Sequence conflicti3790 – 37901P → T in AAD55679 (PubMed:10463611).Curated
Sequence conflicti3809 – 38091G → S in AAD55679 (PubMed:10463611).Curated
Sequence conflicti3966 – 39661R → G in AAD55679 (PubMed:10463611).Curated
Sequence conflicti4037 – 40371K → T in AAD55679 (PubMed:10463611).Curated
Sequence conflicti4137 – 41371T → K in AAD55679 (PubMed:10463611).Curated
Sequence conflicti4214 – 42141T → A in AAD55679 (PubMed:10463611).Curated
Sequence conflicti4238 – 42392ST → GP in AAD55679 (PubMed:10463611).Curated
Sequence conflicti4901 – 49011T → R in AAD55678 (PubMed:10463611).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4775 – 47751T → R.
Corresponds to variant rs11766125 [ dbSNP | Ensembl ].
VAR_042906

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei23 – 165143Missing in isoform 2. CuratedVSP_056721Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC105446 Genomic DNA. No translation available.
AF147790 mRNA. Translation: AAD55678.1.
AF147791 mRNA. Translation: AAD55679.1.
CCDSiCCDS55139.1. [Q9UKN1-2]
RefSeqiNP_001157934.1. NM_001164462.1. [Q9UKN1-2]
UniGeneiHs.489355.

Genome annotation databases

EnsembliENST00000379442; ENSP00000368755; ENSG00000205277. [Q9UKN1-1]
ENST00000536621; ENSP00000441929; ENSG00000205277. [Q9UKN1-2]
GeneIDi10071.
KEGGihsa:10071.
UCSCiuc003uxo.4. human. [Q9UKN1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mucin database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC105446 Genomic DNA. No translation available.
AF147790 mRNA. Translation: AAD55678.1.
AF147791 mRNA. Translation: AAD55679.1.
CCDSiCCDS55139.1. [Q9UKN1-2]
RefSeqiNP_001157934.1. NM_001164462.1. [Q9UKN1-2]
UniGeneiHs.489355.

3D structure databases

ProteinModelPortaliQ9UKN1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115382. 2 interactions.
IntActiQ9UKN1. 2 interactions.
STRINGi9606.ENSP00000441929.

PTM databases

iPTMnetiQ9UKN1.
PhosphoSiteiQ9UKN1.

Polymorphism and mutation databases

DMDMi187609692.

Proteomic databases

PaxDbiQ9UKN1.
PeptideAtlasiQ9UKN1.
PRIDEiQ9UKN1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379442; ENSP00000368755; ENSG00000205277. [Q9UKN1-1]
ENST00000536621; ENSP00000441929; ENSG00000205277. [Q9UKN1-2]
GeneIDi10071.
KEGGihsa:10071.
UCSCiuc003uxo.4. human. [Q9UKN1-1]

Organism-specific databases

CTDi10071.
GeneCardsiMUC12.
H-InvDBHIX0201128.
HGNCiHGNC:7510. MUC12.
HPAiHPA023835.
MIMi604609. gene.
neXtProtiNX_Q9UKN1.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK1M. Eukaryota.
ENOG41126RR. LUCA.
GeneTreeiENSGT00730000111040.
HOVERGENiHBG099234.
InParanoidiQ9UKN1.
OMAiSTPTTHF.
OrthoDBiEOG091G00EF.
PhylomeDBiQ9UKN1.
TreeFamiTF344108.

Enzyme and pathway databases

ReactomeiR-HSA-5083625. Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC).
R-HSA-5083632. Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS).
R-HSA-5083636. Defective GALNT12 causes colorectal cancer 1 (CRCS1).
R-HSA-913709. O-linked glycosylation of mucins.
R-HSA-977068. Termination of O-glycan biosynthesis.

Miscellaneous databases

ChiTaRSiMUC12. human.
GenomeRNAii10071.
PROiQ9UKN1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205277.
CleanExiHS_MUC12.
ExpressionAtlasiQ9UKN1. baseline and differential.
GenevisibleiQ9UKN1. HS.

Family and domain databases

InterProiIPR013032. EGF-like_CS.
IPR000082. SEA_dom.
[Graphical view]
PfamiPF01390. SEA. 1 hit.
[Graphical view]
SUPFAMiSSF82671. SSF82671. 1 hit.
PROSITEiPS00022. EGF_1. 1 hit.
PS01186. EGF_2. 1 hit.
PS50024. SEA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMUC12_HUMAN
AccessioniPrimary (citable) accession number: Q9UKN1
Secondary accession number(s): A6ND38, F5GWV9, Q9UKN0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: April 29, 2008
Last modified: September 7, 2016
This is version 101 of the entry and version 2 of the sequence. [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

Miscellaneous

Infection by L.monocytogenes induces increases in mucin secretion and MUC4 and MUC12 transcription. This may constitute a host cell defense response that inhibits the entry of listeria monocytogenes in the cell.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.