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Q99102

- MUC4_HUMAN

UniProt

Q99102 - MUC4_HUMAN

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Protein
Mucin-4
Gene
MUC4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May play a role in tumor progression. Ability to promote tumor growth may be mainly due to repression of apoptosis as opposed to proliferation. Has anti-adhesive properties. Seems to alter cellular behavior through both anti-adhesive effects on cell-cell and cell-extracellular matrix interactions and in its ability to act as an intramembrane ligand for ERBB2. Plays an important role in cell proliferation and differentiation of epithelial cells by inducing specific phosphorylation of ERBB2. The MUC4-ERBB2 complex causes site-specific phosphorylation of the ERBB2 'Tyr-1248'. In polarized epithelilal cells segragates ERBB2 and other ERBB receptors and prevents ERBB2 from acting as a coreceptor. The interaction with ERBB2 leads to enhanced expression of CDKN1B. The formation of a MUC4-ERBB2-ERBB3-NRG1 complex leads to down-regulation of CDKN1B, resulting in repression of apoptosis and stimulation of proliferation.4 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei1444 – 14452Cleavage

GO - Molecular functioni

  1. ErbB-2 class receptor binding Source: ProtInc
  2. extracellular matrix constituent, lubricant activity Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. O-glycan processing Source: Reactome
  2. cell-matrix adhesion Source: InterPro
  3. cellular protein metabolic process Source: Reactome
  4. maintenance of gastrointestinal epithelium Source: UniProt
  5. post-translational protein modification Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

ReactomeiREACT_115606. O-linked glycosylation of mucins.
REACT_115835. Termination of O-glycan biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Mucin-4
Short name:
MUC-4
Alternative name(s):
Ascites sialoglycoprotein
Short name:
ASGP
Pancreatic adenocarcinoma mucin
Testis mucin
Tracheobronchial mucin
Cleaved into the following 2 chains:
Alternative name(s):
Ascites sialoglycoprotein 1
Short name:
ASGP-1
Alternative name(s):
Ascites sialoglycoprotein 2
Short name:
ASGP-2
Gene namesi
Name:MUC4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:7514. MUC4.

Subcellular locationi

Membrane; Single-pass membrane protein Reviewed prediction. Secreted
Note: Isoforms lacking the Cys-rich region, EGF-like domains and transmembrane region are secreted. Secretion occurs by splicing or proteolytic processing.1 Publication
Mucin-4 beta chain : Cell membrane; Single-pass membrane protein 1 Publication
Mucin-4 alpha chain : Secreted 1 Publication
Isoform 3 : Cell membrane; Single-pass membrane protein 1 Publication
Isoform 11 : Secreted 1 Publication
Isoform 15 : Secreted 1 Publication
Isoform 17 : Cell membrane; Single-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei2126 – 214621Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi lumen Source: Reactome
  2. extracellular space Source: UniProt
  3. extracellular vesicular exosome Source: UniProt
  4. integral component of plasma membrane Source: ProtInc
  5. membrane Source: UniProtKB
  6. proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31319.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2828 Reviewed prediction
Add
BLAST
Chaini29 – 21692141Mucin-4
PRO_0000158956Add
BLAST
Chaini29 – 14441416Mucin-4 alpha chain
PRO_0000274225Add
BLAST
Chaini1445 – 2169725Mucin-4 beta chain
PRO_0000274226Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi161 – 1611O-linked (GalNAc...) Reviewed prediction
Glycosylationi235 – 2351N-linked (GlcNAc...) Reviewed prediction
Glycosylationi260 – 2601N-linked (GlcNAc...) Reviewed prediction
Glycosylationi622 – 6221N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1472 – 14721N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1525 – 15251N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1544 – 15441N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1553 – 15531N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1588 – 15881N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1609 – 16091N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1632 – 16321N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1659 – 16591N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1685 – 16851N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1703 – 17031N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1739 – 17391N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1754 – 17541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1802 – 18021N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1809 – 18091N-linked (GlcNAc...)1 Publication
Glycosylationi1857 – 18571N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1876 – 18761N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1879 ↔ 1890 By similarity
Disulfide bondi1884 ↔ 1902 By similarity
Disulfide bondi1904 ↔ 1913 By similarity
Glycosylationi1942 – 19421N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1949 – 19491N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2049 – 20491N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi2081 ↔ 2092 By similarity
Disulfide bondi2086 ↔ 2101 By similarity
Disulfide bondi2103 ↔ 2116 By similarity

Post-translational modificationi

Proteolytically cleaved into 2 chains, mucin-4 alpha chain and mucin-4 beta chain.
mucrnin-4 alpha chain is highly O-glycosylated.
mucin-4 beta chain is predominantly N-glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ99102.
PaxDbiQ99102.
PRIDEiQ99102.

PTM databases

PhosphoSiteiQ99102.
UniCarbKBiQ99102.

Expressioni

Tissue specificityi

Expressed in the thymus, thyroid, lung, trachea, esophagus, stomach, small intestine, colon, testis, prostate, ovary, uterus, placenta, and mammary and salivary glands. Expressed in carcinomas arising from some of these epithelia, such as lung cancers, squamous cell carcinomas of the upper aerodigestive tract, mammary carcinomas, biliary tract, colon, and cervix cancers. Minimally or not expressed in the normal pancreas or chronic pancreatitis, but is highly expressed in pancreatic tumors and pancreatic tumor cell lines.4 Publications

Developmental stagei

Expressed early in the primitive gut before respiratory and digestive epithelial cells have acquired their tissue and cell specificity. Expressed at the basal surface of the epithelium from week 14 to 26 weeks and then predominantly localized in only parietal cells. Immediately before birth, found in the cytoplasm of the mucous columnar epithelial cells. In the embryo expressed in skin, then disappears late in gestation.1 Publication

Gene expression databases

ArrayExpressiQ99102.
BgeeiQ99102.
GenevestigatoriQ99102.

Organism-specific databases

HPAiCAB013536.
HPA005895.

Interactioni

Subunit structurei

A heterodimeric complex, composed of a mucin-4 alpha chain and a cysteine-rich transmembrane mucin-4 beta chain. Mucin-4 beta chain interacts with ERBB2 via the EGF-like domain 1. In nonpolarized cells, associates with ERBB2 and ERBB3 By similarity.

Protein-protein interaction databases

BioGridi110672. 1 interaction.
IntActiQ99102. 1 interaction.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1154 – 1309156NIDO
Add
BLAST
Domaini1310 – 1425116AMOP
Add
BLAST
Domaini1438 – 1673236VWFD
Add
BLAST
Domaini1875 – 191440EGF-like 1
Add
BLAST
Domaini2078 – 211740EGF-like 2
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1002 – 103837Repeat
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi793 – 1013221Ser-rich
Add
BLAST

Sequence similaritiesi

Contains 1 AMOP domain.
Contains 2 EGF-like domains.
Contains 1 NIDO domain.
Contains 1 VWFD domain.

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG12793.
HOVERGENiHBG081997.

Family and domain databases

InterProiIPR005533. AMOP.
IPR000742. EG-like_dom.
IPR003886. Nidogen_extracell_dom.
IPR001846. VWF_type-D.
[Graphical view]
PfamiPF03782. AMOP. 1 hit.
PF06119. NIDO. 1 hit.
PF00094. VWD. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 1 hit.
SM00539. NIDO. 1 hit.
SM00216. VWD. 1 hit.
[Graphical view]
PROSITEiPS50856. AMOP. 1 hit.
PS00022. EGF_1. 1 hit.
PS50026. EGF_3. 2 hits.
PS51220. NIDO. 1 hit.
PS51233. VWFD. 1 hit.
[Graphical view]

Sequences (14)i

Sequence statusi: Complete.

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

This entry describes 14 isoformsi produced by alternative splicing. Align

Note: Additional isoforms exist.

Isoform 1 (identifier: Q99102-1) [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

MKGARWRRVP WVSLSCLCLC LLPHVVPGTT EDTLITGSKT AAPVTSTGST     50
TATLEGQSTA ASSRTSNQDI SASSQNHQTK STETTSKAQT DTLTQMMTST 100
LFSSPSVHNV METVTQETAP PDEMTTSFPS SVTNTLMMTS KTITMTTSTD 150
STLGNTEETS TAGTESSTPV TSAVSITAGQ EGQSRTTSWR TSIQDTSASS 200
QNHWTRSTQT TRESQTSTLT HRTTSTPSFS PSVHNVTGTV SQKTSPSGET 250
ATSSLCSVTN TSMMTSEKIT VTTSTGSTLG NPGETSSVPV TGSLMPVTSA 300
ALVTVDPEGQ SPATFSRTST QDTTAFSKNH QTQSVETTRV SQINTLNTLT 350
PVTTSTVLSS PSGFNPSGTV SQETFPSGET TISSPSSVSN TFLVTSKVFR 400
MPISRDSTLG NTEETSLSVS GTISAITSKV STIWWSDTLS TALSPSSLPP 450
KISTAFHTQQ SEGAETTGRP HERSSFSPGV SQEIFTLHET TTWPSSFSSK 500
GHTTWSQTEL PSTSTGAATR LVTGNPSTRA AGTIPRVPSK VSAIGEPGEP 550
TTYSSHSTTL PKTTGAGAQT QWTQETGTTG EALLSSPSYS VIQMIKTATS 600
PSSSPMLDRH TSQQITTAPS TNHSTIHSTS TSPQESPAVS QRGHTRAPQT 650
TQESQTTRSV SPMTDTKTVT TPGSSFTASG HSPSEIVPQD APTISAATTF 700
APAPTGNGHT TQAPTTALQA APSSHDATLG PSGGTSLSKT GALTLANSVV 750
STPGGPEGQW TSASASTSPD TAAAMTHTHQ AESTEASGQT QTSEPASSGS 800
RTTSAGTATP SSSGASGTTP SGSEGISTSG ETTRFSSNPS RDSHTTQSTT 850
ELLSASASHG AIPVSTGMAS SIVPGTFHPT LSEASTAGRP TGQSSPTSPS 900
ASPQETAAIS RMAQTQRTGT SRGSDTISLA SQATDTFSTV PPTPPSITSS 950
GLTSPQTQTH TLSPSGSGKT FTTALISNAT PLPVTSTSSA STGHATPLAV 1000
SSATSASTVS SDSPLKMETS GMTTPSLKTD GGRRTATSPP PTTSQTIIST 1050
IPSTAMHTRS TAAPIPILPE RGVSLFPYGA GAGDLEFVRR TVDFTSPLFK 1100
PATGFPLGSS LRDSLYFTDN GQIIFPESDY QIFSYPNPLP TGFTGRDPVA 1150
LVAPFWDDAD FSTGRGTTFY QEYETFYGEH SLLVQQAESW IRKMTNNGGY 1200
KARWALKVTW VNAHAYPAQW TLGSNTYQAI LSTDGSRSYA LFLYQSGGMQ 1250
WDVAQRSGNP VLMGFSSGDG YFENSPLMSQ PVWERYRPDR FLNSNSGLQG 1300
LQFYRLHREE RPNYRLECLQ WLKSQPRWPS WGWNQVSCPC SWQQGRRDLR 1350
FQPVSIGRWG LGSRQLCSFT SWRGGVCCSY GPWGEFREGW HVQRPWQLAQ 1400
ELEPQSWCCR WNDKPYLCAL YQQRRPHVGC ATYRPPQPAW MFGDPHITTL 1450
DGVSYTFNGL GDFLLVGAQD GNSSFLLQGR TAQTGSAQAT NFIAFAAQYR 1500
SSSLGPVTVQ WLLEPHDAIR VLLDNQTVTF QPDHEDGGGQ ETFNATGVLL 1550
SRNGSEVSAS FDGWATVSVI ALSNILHASA SLPPEYQNRT EGLLGVWNNN 1600
PEDDFRMPNG STIPPGSPEE MLFHFGMTWQ INGTGLLGKR NDQLPSNFTP 1650
VFYSQLQKNS SWAEHLISNC DGDSSCIYDT LALRNASIGL HTREVSKNYE 1700
QANATLNQYP PSINGGRVIE AYKGQTTLIQ YTSNAEDANF TLRDSCTDLE 1750
LFENGTLLWT PKSLEPFTLE ILARSAKIGL ASALQPRTVV CHCNAESQCL 1800
YNQTSRVGNS SLEVAGCKCD GGTFGRYCEG SEDACEEPCF PSVHCVPGKG 1850
CEACPPNLTG DGRHCAALGS SFLCQNQSCP VNYCYNQGHC YISQTLGCQP 1900
MCTCPPAFTD SRCFLAGNNF SPTVNLELPL RVIQLLLSEE ENASMAEVNA 1950
SVAYRLGTLD MRAFLRNSQV ERIDSAAPAS GSPIQHWMVI SEFQYRPRGP 2000
VIDFLNNQLL AAVVEAFLYH VPRRSEEPRN DVVFQPISGE DVRDVTALNV 2050
STLKAYFRCD GYKGYDLVYS PQSGFTCVSP CSRGYCDHGG QCQHLPSGPR 2100
CSCVSFSIYT AWGEHCEHLS MKLDAFFGIF FGALGGLLLL GVGTFVVLRF 2150
WGCSGARFSY FLNSAEALP 2169
Length:2,169
Mass (Da):231,518
Last modified:June 28, 2011 - v4
Checksum:i53615AF8DD416957
GO
Isoform 2 (identifier: Q99102-2) [UniParc]FASTAAdd to Basket

Also known as: Sv12, Sv13

The sequence of this isoform differs from the canonical sequence as follows:
     1117-1157: FTDNGQIIFP...PVALVAPFWD → ASQAGTLWPW...TRRSMVNTAC
     1158-2169: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:1,157
Mass (Da):118,842
Checksum:i563F538E94C8D17F
GO
Isoform 3 (identifier: Q99102-3) [UniParc]FASTAAdd to Basket

Also known as: Sv20

The sequence of this isoform differs from the canonical sequence as follows:
     1814-1827: VAGCKCDGGTFGRY → LWGALSCVRTSPAL
     1828-2169: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:1,827
Mass (Da):194,147
Checksum:i7C0F057C7FFD9B61
GO
Isoform 5 (identifier: Q99102-5) [UniParc]FASTAAdd to Basket

Also known as: Sv18, Sv19

The sequence of this isoform differs from the canonical sequence as follows:
     1172-1223: Missing.
     1258-1267: GNPVLMGFSS → VEMAFSKTAH
     1268-2169: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:1,215
Mass (Da):125,352
Checksum:i6394DD971A6AC6AA
GO
Isoform 7 (identifier: Q99102-7) [UniParc]FASTAAdd to Basket

Also known as: Sv16

The sequence of this isoform differs from the canonical sequence as follows:
     1117-1201: FTDNGQIIFP...RKMTNNGGYK → ASQAGTLWPW...VPASVGEVSP
     1202-2169: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:1,201
Mass (Da):123,420
Checksum:i90CCFA911DF8A6DC
GO
Isoform 8 (identifier: Q99102-8) [UniParc]FASTAAdd to Basket

Also known as: Sv15

The sequence of this isoform differs from the canonical sequence as follows:
     1117-1199: FTDNGQIIFP...WIRKMTNNGG → ASQAGTLWPW...VEMAFSKTAH
     1200-2169: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:1,199
Mass (Da):123,047
Checksum:iC297274BF47EE49E
GO
Isoform 9 (identifier: Q99102-9) [UniParc]FASTAAdd to Basket

Also known as: Sv11

The sequence of this isoform differs from the canonical sequence as follows:
     1071-1107: RGVSLFPYGAGAGDLEFVRRTVDFTSPLFKPATGFPL → SPLWGRRRGPGVRQEDRGLHLPTLQAGDWLPP
     1108-2169: Missing.

Note: Dubious isoform produced through aberrant splice sites.

Show »
Length:1,102
Mass (Da):112,954
Checksum:iA533603C2182BFD7
GO
Isoform 10 (identifier: Q99102-10) [UniParc]FASTAAdd to Basket

Also known as: Sv3, Sv17

The sequence of this isoform differs from the canonical sequence as follows:
     1172-1223: Missing.

Show »
Length:2,117
Mass (Da):225,434
Checksum:i6A59FC9B7497C05F
GO
Isoform 11 (identifier: Q99102-11) [UniParc]FASTAAdd to Basket

Also known as: Sv2

The sequence of this isoform differs from the canonical sequence as follows:
     1073-1187: VSLFPYGAGA...GEHSLLVQQA → EAIQEFPSSP...TRRSMVNTAC
     1188-2169: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:1,187
Mass (Da):121,900
Checksum:i79896412E450E46B
GO
Isoform 12 (identifier: Q99102-12) [UniParc]FASTAAdd to Basket

Also known as: SvX

The sequence of this isoform differs from the canonical sequence as follows:
     29-1072: Missing.

Note: May be preferentially expressed in tumor tissues.

Show »
Length:1,125
Mass (Da):125,130
Checksum:iD1750D4908B75B6D
GO
Isoform 13 (identifier: Q99102-13) [UniParc]FASTAAdd to Basket

Also known as: SvY

The sequence of this isoform differs from the canonical sequence as follows:
     29-1021: Missing.

Note: May be preferentially expressed in tumor tissues.

Show »
Length:1,176
Mass (Da):130,415
Checksum:i92B845E20A242187
GO
Isoform 15 (identifier: Q99102-15) [UniParc]FASTAAdd to Basket

Also known as: Sv1

The sequence of this isoform differs from the canonical sequence as follows:
     1073-1177: VSLFPYGAGA...TFYQEYETFY → AIQEFPSSPM...LVGGPHFIRL
     1178-2169: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:1,176
Mass (Da):120,650
Checksum:i922532E6C031907A
GO
Isoform 16 (identifier: Q99102-16) [UniParc]FASTAAdd to Basket

Also known as: Sv6

The sequence of this isoform differs from the canonical sequence as follows:
     1336-1384: VSCPCSWQQG...GVCCSYGPWG → AAPPRLAQPR...QSVSCWITRL
     1385-2169: Missing.

Note: Dubious isoform produced through aberrant splice sites.

Show »
Length:1,384
Mass (Da):144,847
Checksum:i24DAF864CC4008DD
GO
Isoform 17 (identifier: Q99102-17) [UniParc]FASTAAdd to Basket

Also known as: Sv8

The sequence of this isoform differs from the canonical sequence as follows:
     1354-1579: Missing.

Note: Dubious isoform produced through aberrant splice sites.

Show »
Length:1,943
Mass (Da):206,605
Checksum:i8AB442BDDA613D41
GO

Sequence cautioni

The sequence AAA63230.1 differs from that shown. Reason: May be derived from an intron translation.
The sequence CAC14139.1 differs from that shown. Reason: Frameshift at position 1171.
The sequence CAC14141.1 differs from that shown. Reason: Frameshift at position 1256.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371G → D.
Corresponds to variant rs2259292 [ dbSNP | Ensembl ].
VAR_030211
Natural varianti41 – 411A → P.2 Publications
Corresponds to variant rs3107764 [ dbSNP | Ensembl ].
VAR_065261
Natural varianti161 – 1611T → A.
Corresponds to variant rs2293232 [ dbSNP | Ensembl ].
VAR_030212
Natural varianti585 – 5851S → A.
Corresponds to variant rs2246901 [ dbSNP | Ensembl ].
VAR_030213
Natural varianti721 – 7211A → T.
Corresponds to variant rs3749331 [ dbSNP | Ensembl ].
VAR_056585
Natural varianti1081 – 10811G → D.5 Publications
Corresponds to variant rs2259292 [ dbSNP | Ensembl ].
VAR_065262
Natural varianti1205 – 12051A → T.
Corresponds to variant rs2293232 [ dbSNP | Ensembl ].
VAR_056586
Natural varianti1578 – 15781A → S.1 Publication
Corresponds to variant rs2246901 [ dbSNP | Ensembl ].
VAR_056587

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei29 – 10721044Missing in isoform 12.
VSP_022650Add
BLAST
Alternative sequencei29 – 1021993Missing in isoform 13.
VSP_022651Add
BLAST
Alternative sequencei1071 – 110737RGVSL…TGFPL → SPLWGRRRGPGVRQEDRGLH LPTLQAGDWLPP in isoform 9.
VSP_022652Add
BLAST
Alternative sequencei1073 – 1187115VSLFP…LVQQA → EAIQEFPSSPMGQTPGTWSS SGGPWTSPPHSSSRRLASPL APLSVIPSTSQTMARSSSQS QTTRFSPTPTHSQQASQAGT LWPWWLRSGTMLTSPLVGGP HFIRNTRRSMVNTAC in isoform 11.
VSP_022653Add
BLAST
Alternative sequencei1073 – 1177105VSLFP…YETFY → AIQEFPSSPMGQTPGTWSSS GGPWTSPPHSSSRRLASPLA PLSVIPSTSQTMARSSSQSQ TTRFSPTPTHSQQASQAGTL WPWWLRSGTMLTSPLVGGPH FIRL in isoform 15.
VSP_022654Add
BLAST
Alternative sequencei1108 – 21691062Missing in isoform 9.
VSP_022655Add
BLAST
Alternative sequencei1117 – 120185FTDNG…NGGYK → ASQAGTLWPWWLRSGTMLTS PLVGGPHFIRATPTKPSSPR TGAGPMPCFSTRAVGCSGTW PSAQWRWLFRKQPTDVPASV GEVSP in isoform 7.
VSP_022656Add
BLAST
Alternative sequencei1117 – 119983FTDNG…TNNGG → ASQAGTLWPWWLRSGTMLTS PLVGGPHFIRATPTKPSSPR TGAGPMPCFSTRAVGCSGTW PSAQASRCSWASLVEMAFSK TAH in isoform 8.
VSP_022657Add
BLAST
Alternative sequencei1117 – 115741FTDNG…APFWD → ASQAGTLWPWWLRSGTMLTS PLVGGPHFIRNTRRSMVNTA C in isoform 2.
VSP_022658Add
BLAST
Alternative sequencei1158 – 21691012Missing in isoform 2.
VSP_022659Add
BLAST
Alternative sequencei1172 – 122352Missing in isoform 5 and isoform 10.
VSP_022661Add
BLAST
Alternative sequencei1178 – 2169992Missing in isoform 15.
VSP_022662Add
BLAST
Alternative sequencei1188 – 2169982Missing in isoform 11.
VSP_022663Add
BLAST
Alternative sequencei1200 – 2169970Missing in isoform 8.
VSP_022664Add
BLAST
Alternative sequencei1202 – 2169968Missing in isoform 7.
VSP_022665Add
BLAST
Alternative sequencei1258 – 126710GNPVLMGFSS → VEMAFSKTAH in isoform 5.
VSP_022669
Alternative sequencei1268 – 2169902Missing in isoform 5.
VSP_022670Add
BLAST
Alternative sequencei1336 – 138449VSCPC…YGPWG → AAPPRLAQPRPPTSSPLRLS TAPAAWAPSRSNGSLSLTTQ SVSCWITRL in isoform 16.
VSP_022671Add
BLAST
Alternative sequencei1354 – 1579226Missing in isoform 17.
VSP_022672Add
BLAST
Alternative sequencei1385 – 2169785Missing in isoform 16.
VSP_022673Add
BLAST
Alternative sequencei1814 – 182714VAGCK…TFGRY → LWGALSCVRTSPAL in isoform 3.
VSP_022674Add
BLAST
Alternative sequencei1828 – 2169342Missing in isoform 3.
VSP_022675Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1194 – 11941M → I in CAB85602. 1 Publication
Sequence conflicti1194 – 11941M → I in CAB85603. 1 Publication
Sequence conflicti1194 – 11941M → I in CAB85604. 1 Publication
Sequence conflicti1194 – 11941M → I in CAB85605. 1 Publication
Sequence conflicti1194 – 11941M → I in CAB85606. 1 Publication
Sequence conflicti1194 – 11941M → I in CAB81773. 1 Publication
Sequence conflicti1194 – 11941M → I in CAC14141. 1 Publication
Sequence conflicti1194 – 11941M → I in CAC14142. 1 Publication
Sequence conflicti1194 – 11941M → I in CAC14143. 1 Publication
Sequence conflicti1194 – 11941M → I in AAM66747. 1 Publication
Sequence conflicti1194 – 11941M → I in CAD22550. 1 Publication
Sequence conflicti1194 – 11941M → I in CAB38059. 1 Publication
Sequence conflicti1259 – 12591N → K in CAB81773. 1 Publication
Sequence conflicti1259 – 12591N → K in CAC14143. 1 Publication
Sequence conflicti1259 – 12591N → K in CAC10061. 1 Publication
Sequence conflicti1259 – 12591N → K in AAM66747. 1 Publication
Sequence conflicti1271 – 12711Y → F in CAB81773. 1 Publication
Sequence conflicti1271 – 12711Y → F in CAC14143. 1 Publication
Sequence conflicti1271 – 12711Y → F in CAC10061. 1 Publication
Sequence conflicti1271 – 12711Y → F in AAM66747. 1 Publication
Sequence conflicti1305 – 13051R → G in CAB81773. 1 Publication
Sequence conflicti1305 – 13051R → G in CAC14143. 1 Publication
Sequence conflicti1305 – 13051R → G in CAC10061. 1 Publication
Sequence conflicti1305 – 13051R → G in AAM66747. 1 Publication
Sequence conflicti1557 – 15571V → A in CAB81773. 1 Publication
Sequence conflicti1557 – 15571V → A in CAC14143. 1 Publication
Sequence conflicti1557 – 15571V → A in CAC10061. 1 Publication
Sequence conflicti1557 – 15571V → A in AAM66747. 1 Publication
Sequence conflicti1920 – 19212Missing in CAC14143. 1 Publication
Sequence conflicti2039 – 20391G → E in CAB85604. 1 Publication
Sequence conflicti2039 – 20391G → E in CAB85605. 1 Publication
Sequence conflicti2039 – 20391G → E in CAB85606. 1 Publication
Sequence conflicti2039 – 20391G → E in CAD22550. 1 Publication
Sequence conflicti2039 – 20391G → E in CAB38059. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ242541 mRNA. Translation: CAB85597.1.
AJ242542 mRNA. Translation: CAB85598.1.
AJ242543 mRNA. Translation: CAB85599.1.
AJ242544 mRNA. Translation: CAB85600.1.
AJ242545 mRNA. Translation: CAB85601.1.
AJ242546 mRNA. Translation: CAB85602.1.
AJ242547 mRNA. Translation: CAB85603.1.
AJ242548 mRNA. Translation: CAB85604.1.
AJ242549 mRNA. Translation: CAB85605.1.
AJ242550 mRNA. Translation: CAB85606.1.
AJ276359 mRNA. Translation: CAB81773.1.
AJ277412 mRNA. Translation: CAC10061.1.
AJ277505 mRNA. Translation: CAC14585.1.
AJ400633 mRNA. Translation: CAC10062.1.
AJ400849 mRNA. Translation: CAC14134.1.
AJ400850 mRNA. Translation: CAC14135.1.
AJ400851 mRNA. Translation: CAC14136.1.
AJ400852 mRNA. Translation: CAC14137.1.
AJ400855 mRNA. Translation: CAC14140.1.
AJ400853 mRNA. Translation: CAC14138.1.
AJ400854 mRNA. Translation: CAC14139.1. Frameshift.
AJ400856 mRNA. Translation: CAC14141.1. Frameshift.
AJ400857 mRNA. Translation: CAC14142.1.
AJ400858 mRNA. Translation: CAC14143.1.
AF522055
, AF522031, AF522032, AF522033, AF522034, AF522035, AF522036, AF522037, AF522038, AF522039, AF522040, AF522041, AF522042, AF522043, AF522044, AF522045, AF522046, AF522047, AF522048, AF522049, AF522050, AF522051, AF522052, AF522053, AF522054 Genomic DNA. Translation: AAM66747.1.
AJ010901 mRNA. Translation: CAB38059.1.
AJ430032, AJ430033, AJ430034 Genomic DNA. Translation: CAD22550.1.
M64594 mRNA. Translation: AAA63230.1. Sequence problems.
AC069513 Genomic DNA. No translation available.
AC233280 Genomic DNA. No translation available.
CCDSiCCDS3310.1. [Q99102-13]
CCDS3311.1. [Q99102-12]
PIRiPN0012.
RefSeqiNP_004523.3. NM_004532.5. [Q99102-13]
NP_060876.5. NM_018406.6.
NP_612154.2. NM_138297.4. [Q99102-12]
UniGeneiHs.369646.

Genome annotation databases

EnsembliENST00000346145; ENSP00000304207; ENSG00000145113. [Q99102-13]
ENST00000349607; ENSP00000338109; ENSG00000145113. [Q99102-12]
GeneIDi4585.
KEGGihsa:4585.
UCSCiuc003fuz.3. human. [Q99102-12]
uc003fvo.3. human. [Q99102-13]
uc021xjn.1. human. [Q99102-10]

Polymorphism databases

DMDMi338817990.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mucin database
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ242541 mRNA. Translation: CAB85597.1 .
AJ242542 mRNA. Translation: CAB85598.1 .
AJ242543 mRNA. Translation: CAB85599.1 .
AJ242544 mRNA. Translation: CAB85600.1 .
AJ242545 mRNA. Translation: CAB85601.1 .
AJ242546 mRNA. Translation: CAB85602.1 .
AJ242547 mRNA. Translation: CAB85603.1 .
AJ242548 mRNA. Translation: CAB85604.1 .
AJ242549 mRNA. Translation: CAB85605.1 .
AJ242550 mRNA. Translation: CAB85606.1 .
AJ276359 mRNA. Translation: CAB81773.1 .
AJ277412 mRNA. Translation: CAC10061.1 .
AJ277505 mRNA. Translation: CAC14585.1 .
AJ400633 mRNA. Translation: CAC10062.1 .
AJ400849 mRNA. Translation: CAC14134.1 .
AJ400850 mRNA. Translation: CAC14135.1 .
AJ400851 mRNA. Translation: CAC14136.1 .
AJ400852 mRNA. Translation: CAC14137.1 .
AJ400855 mRNA. Translation: CAC14140.1 .
AJ400853 mRNA. Translation: CAC14138.1 .
AJ400854 mRNA. Translation: CAC14139.1 . Frameshift.
AJ400856 mRNA. Translation: CAC14141.1 . Frameshift.
AJ400857 mRNA. Translation: CAC14142.1 .
AJ400858 mRNA. Translation: CAC14143.1 .
AF522055
, AF522031 , AF522032 , AF522033 , AF522034 , AF522035 , AF522036 , AF522037 , AF522038 , AF522039 , AF522040 , AF522041 , AF522042 , AF522043 , AF522044 , AF522045 , AF522046 , AF522047 , AF522048 , AF522049 , AF522050 , AF522051 , AF522052 , AF522053 , AF522054 Genomic DNA. Translation: AAM66747.1 .
AJ010901 mRNA. Translation: CAB38059.1 .
AJ430032 , AJ430033 , AJ430034 Genomic DNA. Translation: CAD22550.1 .
M64594 mRNA. Translation: AAA63230.1 . Sequence problems.
AC069513 Genomic DNA. No translation available.
AC233280 Genomic DNA. No translation available.
CCDSi CCDS3310.1. [Q99102-13 ]
CCDS3311.1. [Q99102-12 ]
PIRi PN0012.
RefSeqi NP_004523.3. NM_004532.5. [Q99102-13 ]
NP_060876.5. NM_018406.6.
NP_612154.2. NM_138297.4. [Q99102-12 ]
UniGenei Hs.369646.

3D structure databases

ModBasei Search...

Protein-protein interaction databases

BioGridi 110672. 1 interaction.
IntActi Q99102. 1 interaction.

PTM databases

PhosphoSitei Q99102.
UniCarbKBi Q99102.

Polymorphism databases

DMDMi 338817990.

Proteomic databases

MaxQBi Q99102.
PaxDbi Q99102.
PRIDEi Q99102.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000346145 ; ENSP00000304207 ; ENSG00000145113 . [Q99102-13 ]
ENST00000349607 ; ENSP00000338109 ; ENSG00000145113 . [Q99102-12 ]
GeneIDi 4585.
KEGGi hsa:4585.
UCSCi uc003fuz.3. human. [Q99102-12 ]
uc003fvo.3. human. [Q99102-13 ]
uc021xjn.1. human. [Q99102-10 ]

Organism-specific databases

CTDi 4585.
GeneCardsi GC03M195473.
H-InvDB HIX0003957.
HIX0163449.
HGNCi HGNC:7514. MUC4.
HPAi CAB013536.
HPA005895.
MIMi 158372. gene.
neXtProti NX_Q99102.
PharmGKBi PA31319.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOVERGENi HBG081997.

Enzyme and pathway databases

Reactomei REACT_115606. O-linked glycosylation of mucins.
REACT_115835. Termination of O-glycan biosynthesis.

Miscellaneous databases

ChiTaRSi MUC4. human.
GeneWikii MUC4.
GenomeRNAii 4585.
NextBioi 17619.
PROi Q99102.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q99102.
Bgeei Q99102.
Genevestigatori Q99102.

Family and domain databases

InterProi IPR005533. AMOP.
IPR000742. EG-like_dom.
IPR003886. Nidogen_extracell_dom.
IPR001846. VWF_type-D.
[Graphical view ]
Pfami PF03782. AMOP. 1 hit.
PF06119. NIDO. 1 hit.
PF00094. VWD. 1 hit.
[Graphical view ]
SMARTi SM00181. EGF. 1 hit.
SM00539. NIDO. 1 hit.
SM00216. VWD. 1 hit.
[Graphical view ]
PROSITEi PS50856. AMOP. 1 hit.
PS00022. EGF_1. 1 hit.
PS50026. EGF_3. 2 hits.
PS51220. NIDO. 1 hit.
PS51233. VWFD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Alternative splicing generates a family of putative secreted and membrane-associated MUC4 mucins."
    Moniaux N., Escande F., Batra S.K., Porchet N., Laine A., Aubert J.-P.
    Eur. J. Biochem. 267:4536-4544(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 12 AND 13), PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 11; 15; 16 AND 17), TISSUE SPECIFICITY, VARIANT ASP-1081.
    Tissue: Lung and Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 5; 7; 8; 9; 10 AND 11), TISSUE SPECIFICITY, VARIANTS PRO-41 AND ASP-1081.
    Tissue: Pancreatic tumor.
  3. "Cloning, chromosomal localization and characterization of the murine mucin gene orthologous to human MUC4."
    Desseyn J.-L., Clavereau I., Laine A.
    Eur. J. Biochem. 269:3150-3159(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PRO-41; ASP-1081 AND SER-1578.
  4. "Complete sequence of the human mucin MUC4: a putative cell membrane-associated mucin."
    Moniaux N., Nollet S., Porchet N., Degand P., Laine A., Aubert J.-P.
    Biochem. J. 338:325-333(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1014-2169 (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ASP-1081.
    Tissue: Colon mucosa.
  5. "Genomic organization of MUC4 mucin gene: towards the characterization of splice variants."
    Escande F., Lemaitre L., Moniaux N., Batra S.K., Aubert J.-P., Buisine M.P.
    Eur. J. Biochem. 269:3637-3644(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1014-2169, VARIANT ASP-1081.
  6. "Molecular cloning and chromosomal localization of a novel human tracheo-bronchial mucin cDNA containing tandemly repeated sequences of 48 base pairs."
    Porchet N., van Cong N., Dufosse J., Audie J.P., Guyonnet-Duperat V., Gross M.S., Denis C., Degand P., Bernheim A., Aubert J.-P.
    Biochem. Biophys. Res. Commun. 175:414-422(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: PRELIMINARY PARTIAL NUCLEOTIDE SEQUENCE [MRNA].
  7. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "Muc4/sialomucin complex, the intramembrane ErbB2 ligand, in cancer and epithelia: to protect and to survive."
    Carraway K.L., Perez A., Idris N., Jepson S., Arango M.E., Komatsu M., Haq B., Price-Schiavi S.A., Zhang J., Carraway C.A.
    Prog. Nucleic Acid Res. Mol. Biol. 71:149-185(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  9. "MUC4 expression is a novel prognostic factor in patients with invasive ductal carcinoma of the pancreas."
    Saitou M., Goto M., Horinouchi M., Tamada S., Nagata K., Hamada T., Osako M., Takao S., Batra S.K., Aikou T., Imai K., Yonezawa S.
    J. Clin. Pathol. 58:845-852(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  10. "MUC4 expression and its relation to ErbB2 expression, apoptosis, proliferation, differentiation, and tumor stage in non-small cell lung cancer (NSCLC)."
    Karg A., Dinc Z.A., Basok O., Ucvet A.
    Pathol. Res. Pract. 202:577-583(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, FUNCTION.
  11. "MUC4 expression and localization in gastrointestinal tract and skin of human embryos."
    Zhang J., Yasin M., Carraway C.A., Carraway K.L.
    Tissue Cell 38:271-275(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: DEVELOPMENTAL STAGE, FUNCTION.
  12. "Identification of N-linked glycoproteins in human milk by hydrophilic interaction liquid chromatography and mass spectrometry."
    Picariello G., Ferranti P., Mamone G., Roepstorff P., Addeo F.
    Proteomics 8:3833-3847(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-1809.
    Tissue: Milk.

Entry informationi

Entry nameiMUC4_HUMAN
AccessioniPrimary (citable) accession number: Q99102
Secondary accession number(s): O95938
, Q9GZM2, Q9GZV6, Q9H481, Q9H482, Q9H483, Q9H484, Q9H485, Q9H486, Q9H487, Q9H4D6, Q9H4D8, Q9NPJ0, Q9NY09, Q9NY75, Q9NY76, Q9NY77, Q9NY78, Q9NY79, Q9NY80, Q9NY81
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 28, 2011
Last modified: September 3, 2014
This is version 118 of the entry and version 4 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

Expression is a very useful predictor of poor prognosis in patients with invasive ductal carcinoma and intrahepatic cholangiocarcinoma, mass forming type (IDC,ICC-MF). Patients with IDC or ICC-MF who have high MUC4 expression had a worse survival rate than those with low MUC4 expression.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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

External Data

Dasty 3

Similar proteinsi