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Q7Z7M0

- MEGF8_HUMAN

UniProt

Q7Z7M0 - MEGF8_HUMAN

Protein

Multiple epidermal growth factor-like domains protein 8

Gene

MEGF8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (16 Dec 2008)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. protein binding Source: IntAct
    3. receptor activity Source: InterPro

    GO - Biological processi

    1. BMP signaling pathway Source: UniProt
    2. cell migration involved in gastrulation Source: UniProt
    3. craniofacial suture morphogenesis Source: UniProt
    4. determination of digestive tract left/right asymmetry Source: UniProt
    5. determination of heart left/right asymmetry Source: UniProt
    6. embryonic heart tube left/right pattern formation Source: UniProt
    7. embryonic heart tube morphogenesis Source: UniProt
    8. embryonic limb morphogenesis Source: UniProt
    9. embryonic skeletal system morphogenesis Source: UniProt
    10. epiboly involved in gastrulation with mouth forming second Source: UniProt
    11. fasciculation of sensory neuron axon Source: UniProt
    12. left/right pattern formation Source: UniProt
    13. limb morphogenesis Source: UniProt
    14. positive regulation of axon extension involved in axon guidance Source: UniProt
    15. regulation of gene expression Source: UniProt

    Keywords - Ligandi

    Calcium

    Enzyme and pathway databases

    SignaLinkiQ7Z7M0.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Multiple epidermal growth factor-like domains protein 8
    Short name:
    Multiple EGF-like domains protein 8
    Alternative name(s):
    Epidermal growth factor-like protein 4
    Short name:
    EGF-like protein 4
    Gene namesi
    Name:MEGF8
    Synonyms:C19orf49, EGFL4, KIAA0817
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:3233. MEGF8.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW
    3. nucleus Source: UniProt

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Carpenter syndrome 2 (CRPT2) [MIM:614976]: An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti199 – 1991G → R in CRPT2. 1 Publication
    VAR_069305
    Natural varianti1566 – 15661R → H in CRPT2. 1 Publication
    VAR_069306
    Natural varianti2434 – 24341S → G in CRPT2. 1 Publication
    VAR_069307

    Keywords - Diseasei

    Craniosynostosis, Disease mutation

    Organism-specific databases

    MIMi614976. phenotype.
    Orphaneti65759. Carpenter syndrome.
    PharmGKBiPA27666.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2727Sequence AnalysisAdd
    BLAST
    Chaini28 – 28452818Multiple epidermal growth factor-like domains protein 8PRO_0000055629Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi30 ↔ 57By similarity
    Glycosylationi50 – 501N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi142 ↔ 152By similarity
    Disulfide bondi146 ↔ 158By similarity
    Disulfide bondi174 ↔ 184By similarity
    Disulfide bondi178 ↔ 191By similarity
    Disulfide bondi193 ↔ 202By similarity
    Glycosylationi217 – 2171N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1048 – 10481N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1078 ↔ 1091By similarity
    Disulfide bondi1085 ↔ 1100By similarity
    Disulfide bondi1102 ↔ 1114By similarity
    Disulfide bondi1163 ↔ 1171By similarity
    Disulfide bondi1165 ↔ 1179By similarity
    Disulfide bondi1182 ↔ 1191By similarity
    Disulfide bondi1194 ↔ 1208By similarity
    Disulfide bondi1211 ↔ 1224By similarity
    Disulfide bondi1213 ↔ 1231By similarity
    Disulfide bondi1233 ↔ 1242By similarity
    Disulfide bondi1245 ↔ 1259By similarity
    Disulfide bondi1263 ↔ 1302By similarity
    Glycosylationi1271 – 12711N-linked (GlcNAc...)1 Publication
    Disulfide bondi1336 ↔ 1367By similarity
    Modified residuei1353 – 13531PhosphothreonineBy similarity
    Disulfide bondi1407 ↔ 1421By similarity
    Disulfide bondi1415 ↔ 1433By similarity
    Disulfide bondi1435 ↔ 1444By similarity
    Glycosylationi2066 – 20661N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi2182 ↔ 2195By similarity
    Disulfide bondi2189 ↔ 2204By similarity
    Glycosylationi2229 – 22291N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi2253 ↔ 2261By similarity
    Disulfide bondi2255 ↔ 2270By similarity
    Disulfide bondi2273 ↔ 2282By similarity
    Disulfide bondi2285 ↔ 2299By similarity
    Disulfide bondi2380 ↔ 2389By similarity
    Disulfide bondi2382 ↔ 2397By similarity
    Disulfide bondi2399 ↔ 2424By similarity
    Disulfide bondi2427 ↔ 2441By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ7Z7M0.
    PRIDEiQ7Z7M0.

    PTM databases

    PhosphoSiteiQ7Z7M0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ7Z7M0.
    BgeeiQ7Z7M0.
    CleanExiHS_MEGF8.
    GenevestigatoriQ7Z7M0.

    Organism-specific databases

    HPAiHPA049248.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ATXN7O152652EBI-947617,EBI-708350
    CACNA1AO005552EBI-947617,EBI-766279

    Protein-protein interaction databases

    BioGridi108274. 6 interactions.
    IntActiQ7Z7M0. 8 interactions.
    MINTiMINT-2808456.
    STRINGi9606.ENSP00000334219.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z7M0.
    SMRiQ7Z7M0. Positions 39-203, 211-343, 1084-1259, 1430-1483, 2201-2373.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini28 – 26472620ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2669 – 2845177CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei2648 – 266821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini30 – 140111CUB 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini138 – 16831EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini170 – 20334EGF-like 2PROSITE-ProRule annotationAdd
    BLAST
    Repeati241 – 28747Kelch 1Add
    BLAST
    Repeati290 – 33849Kelch 2Add
    BLAST
    Repeati346 – 39954Kelch 3Add
    BLAST
    Repeati402 – 45352Kelch 4Add
    BLAST
    Repeati459 – 51153Kelch 5Add
    BLAST
    Repeati525 – 57551Kelch 6Add
    BLAST
    Domaini561 – 61353PSI 1Add
    BLAST
    Domaini847 – 89953PSI 2Add
    BLAST
    Domaini900 – 94748PSI 3Add
    BLAST
    Domaini1074 – 111542EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1163 – 121048Laminin EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1211 – 126151Laminin EGF-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1263 – 1405143CUB 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1403 – 144543EGF-like 4PROSITE-ProRule annotationAdd
    BLAST
    Repeati1522 – 157049Kelch 7Add
    BLAST
    Repeati1580 – 162647Kelch 8Add
    BLAST
    Repeati1632 – 167948Kelch 9Add
    BLAST
    Repeati1685 – 173551Kelch 10Add
    BLAST
    Repeati1796 – 184348Kelch 11Add
    BLAST
    Repeati1852 – 189847Kelch 12Add
    BLAST
    Domaini1876 – 191641PSI 4Add
    BLAST
    Domaini1924 – 197956PSI 5Add
    BLAST
    Domaini2060 – 211859PSI 6Add
    BLAST
    Domaini2120 – 217758PSI 7Add
    BLAST
    Domaini2178 – 221639EGF-like 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini2253 – 230149Laminin EGF-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini2380 – 244364Laminin EGF-like 4PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2528 – 256437Pro-richAdd
    BLAST
    Compositional biasi2739 – 283395Gly-richAdd
    BLAST

    Sequence similaritiesi

    Contains 2 CUB domains.PROSITE-ProRule annotation
    Contains 5 EGF-like domains.PROSITE-ProRule annotation
    Contains 12 Kelch repeats.Curated
    Contains 4 laminin EGF-like domains.PROSITE-ProRule annotation
    Contains 7 PSI domains.Curated

    Keywords - Domaini

    EGF-like domain, Kelch repeat, Laminin EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG304142.
    HOGENOMiHOG000113554.
    HOVERGENiHBG108128.
    OMAiGHSMVFH.
    OrthoDBiEOG7J9VRK.
    PhylomeDBiQ7Z7M0.
    TreeFamiTF321873.

    Family and domain databases

    Gene3Di2.120.10.80. 3 hits.
    2.60.120.290. 1 hit.
    InterProiIPR000859. CUB_dom.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR002049. EGF_laminin.
    IPR015915. Kelch-typ_b-propeller.
    IPR016201. Plexin-like_fold.
    IPR002165. Plexin_repeat.
    [Graphical view]
    PfamiPF00431. CUB. 1 hit.
    PF07645. EGF_CA. 1 hit.
    PF00053. Laminin_EGF. 3 hits.
    PF01437. PSI. 1 hit.
    [Graphical view]
    SMARTiSM00042. CUB. 1 hit.
    SM00181. EGF. 6 hits.
    SM00179. EGF_CA. 1 hit.
    SM00180. EGF_Lam. 1 hit.
    SM00423. PSI. 9 hits.
    [Graphical view]
    SUPFAMiSSF49854. SSF49854. 1 hit.
    PROSITEiPS00010. ASX_HYDROXYL. 2 hits.
    PS01180. CUB. 2 hits.
    PS00022. EGF_1. 6 hits.
    PS01186. EGF_2. 7 hits.
    PS50026. EGF_3. 4 hits.
    PS01187. EGF_CA. 1 hit.
    PS01248. EGF_LAM_1. 4 hits.
    PS50027. EGF_LAM_2. 4 hits.
    [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. Align

    Isoform 1 (identifier: Q7Z7M0-1) [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

    MALGKVLAMA LVLALAVLGS LSPGARAGDC KGQRQVLREA PGFVTDGAGN     50
    YSVNGNCEWL IEAPSPQHRI LLDFLFLDTE CTYDYLFVYD GDSPRGPLLA 100
    SLSGSTRPPP IEASSGKMLL HLFSDANYNL LGFNASFRFS LCPGGCQSHG 150
    QCQPPGVCAC EPGWGGPDCG LQECSAYCGS HGTCASPLGP CRCEPGFLGR 200
    ACDLHLWENQ GAGWWHNVSA RDPAFSARIG AAGAFLSPPG LLAVFGGQDL 250
    NNALGDLVLY NFSANTWESW DLSPAPAARH SHVAVAWAGS LVLMGGELAD 300
    GSLTNDVWAF SPLGRGHWEL LAPPASSSSG PPGLAGHAAA LVDDVWLYVS 350
    GGRTPHDLFS SGLFRFRLDS TSGGYWEQVI PAGGRPPAAT GHSMVFHAPS 400
    RALLVHGGHR PSTARFSVRV NSTELFHVDR HVWTTLKGRD GLQGPRERAF 450
    HTASVLGNYM VVYGGNVHTH YQEEKCYEDG IFFYHLGCHQ WVSGAELAPP 500
    GTPEGRAAPP SGRYSHVAAV LGGSVLLVAG GYSGRPRGDL MAYKVPPFVF 550
    QAPAPDYHLD YCSMYTDHSV CSRDPECSWC QGACQAAPPP GTPLGACPAA 600
    SCLGLGRLLG DCQACLAFSS PTAPPRGPGT LGWCVHNESC LPRPEQARCR 650
    GEQISGTVGW WGPAPVFVTS LEACVTQSFL PGLHLLTFQQ PPNTSQPDKV 700
    SIVRSTTITL TPSAETDVSL VYRGFIYPML PGGPGGPGAE DVAVWTRAQR 750
    LHVLARMARG PDTENMEEVG RWVAHQEKET RRLQRPGSAR LFPLPGRDHK 800
    YAVEIQGQLN GSAGPGHSEL TLLWDRTGVP GGSEISFFFL EPYRSSSCTS 850
    YSSCLGCLAD QGCGWCLTSA TCHLRQGGAH CGDDGAGGSL LVLVPTLCPL 900
    CEEHRDCHAC TQDPFCEWHQ STSRKGDAAC SRRGRGRGAL KSPEECPPLC 950
    SQRLTCEDCL ANSSQCAWCQ STHTCFLFAA YLARYPHGGC RGWDDSVHSE 1000
    PRCRSCDGFL TCHECLQSHE CGWCGNEDNP TLGRCLQGDF SGPLGGGNCS 1050
    LWVGEGLGLP VALPARWAYA RCPDVDECRL GLARCHPRAT CLNTPLSYEC 1100
    HCQRGYQGDG ISHCNRTCLE DCGHGVCSGP PDFTCVCDLG WTSDLPPPTP 1150
    APGPPAPRCS RDCGCSFHSH CRKRGPGFCD ECQDWTWGEH CERCRPGSFG 1200
    NATGSRGCRP CQCNGHGDPR RGHCDNLSGL CFCQDHTEGA HCQLCSPGYY 1250
    GDPRAGGSCF RECGGRALLT NVSSVALGSR RVGGLLPPGG GAARAGPGLS 1300
    YCVWVVSATE ELQPCAPGTL CPPLTLTFSP DSSTPCTLSY VLAFDGFPRF 1350
    LDTGVVQSDR SLIAAFCGQR RDRPLTVQAL SGLLVLHWEA NGSSSWGFNA 1400
    SVGSARCGSG GPGSCPVPQE CVPQDGAAGA GLCRCPQGWA GPHCRMALCP 1450
    ENCNAHTGAG TCNQSLGVCI CAEGFGGPDC ATKLDGGQLV WETLMDSRLS 1500
    ADTASRFLHR LGHTMVDGPD ATLWMFGGLG LPQGLLGNLY RYSVSERRWT 1550
    QMLAGAEDGG PGPSPRSFHA AAYVPAGRGA MYLLGGLTAG GVTRDFWVLN 1600
    LTTLQWRQEK APQTVELPAV AGHTLTARRG LSLLLVGGYS PENGFNQQLL 1650
    EYQLATGTWV SGAQSGTPPT GLYGHSAVYH EATDSLYVFG GFRFHVELAA 1700
    PSPELYSLHC PDRTWSLLAP SQGAKRDRMR NVRGSSRGLG QVPGEQPGSW 1750
    GFREVRKKMA LWAALAGTGG FLEEISPHLK EPRPRLFHAS ALLGDTMVVL 1800
    GGRSDPDEFS SDVLLYQVNC NAWLLPDLTR SASVGPPMEE SVAHAVAAVG 1850
    SRLYISGGFG GVALGRLLAL TLPPDPCRLL SSPEACNQSG ACTWCHGACL 1900
    SGDQAHRLGC GGSPCSPMPR SPEECRRLRT CSECLARHPR TLQPGDGEAS 1950
    TPRCKWCTNC PEGACIGRNG SCTSENDCRI NQREVFWAGN CSEAACGAAD 2000
    CEQCTREGKC MWTRQFKRTG ETRRILSVQP TYDWTCFSHS LLNVSPMPVE 2050
    SSPPLPCPTP CHLLPNCTSC LDSKGADGGW QHCVWSSSLQ QCLSPSYLPL 2100
    RCMAGGCGRL LRGPESCSLG CAQATQCALC LRRPHCGWCA WGGQDGGGRC 2150
    MEGGLSGPRD GLTCGRPGAS WAFLSCPPED ECANGHHDCN ETQNCHDQPH 2200
    GYECSCKTGY TMDNMTGLCR PVCAQGCVNG SCVEPDHCRC HFGFVGRNCS 2250
    TECRCNRHSE CAGVGARDHC LLCRNHTKGS HCEQCLPLFV GSAVGGGTCR 2300
    PCHAFCRGNS HICISRKELQ MSKGEPKKYS LDPEEIENWV TEGPSEDEAV 2350
    CVNCQNNSYG EKCESCLQGY FLLDGKCTKC QCNGHADTCN EQDGTGCPCQ 2400
    NNTETGTCQG SSPSDRRDCY KYQCAKCRES FHGSPLGGQQ CYRLISVEQE 2450
    CCLDPTSQTN CFHEPKRRAL GPGRTVLFGV QPKFTNVDIR LTLDVTFGAV 2500
    DLYVSTSYDT FVVRVAPDTG VHTVHIQPPP APPPPPPPAD GGPRGAGDPG 2550
    GAGASSGPGA PAEPRVREVW PRGLITYVTV TEPSAVLVVR GVRDRLVITY 2600
    PHEHHALKSS RFYLLLLGVG DPSGPGANGS ADSQGLLFFR QDQAHIDLFV 2650
    FFSVFFSCFF LFLSLCVLLW KAKQALDQRQ EQRRHLQEMT KMASRPFAKV 2700
    TVCFPPDPTA PASAWKPAGL PPPAFRRSEP FLAPLLLTGA GGPWGPMGGG 2750
    CCPPAIPATT AGLRAGPITL EPTEDGMAGV ATLLLQLPGG PHAPNGACLG 2800
    SALVTLRHRL HEYCGGGGGA GGSGHGTGAG RKGLLSQDNL TSMSL 2845
    Length:2,845
    Mass (Da):303,100
    Last modified:December 16, 2008 - v2
    Checksum:iDDBF0EE07511587D
    GO
    Isoform 2 (identifier: Q7Z7M0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         700-766: Missing.

    Show »
    Length:2,778
    Mass (Da):295,934
    Checksum:i73F2F7537697D450
    GO

    Sequence cautioni

    The sequence AAP35084.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAA32469.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti199 – 1991G → R in CRPT2. 1 Publication
    VAR_069305
    Natural varianti1566 – 15661R → H in CRPT2. 1 Publication
    VAR_069306
    Natural varianti2434 – 24341S → G in CRPT2. 1 Publication
    VAR_069307

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei700 – 76667Missing in isoform 2. 2 PublicationsVSP_036067Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB011541 mRNA. Translation: BAA32469.2. Different initiation.
    AC011497 Genomic DNA. No translation available.
    AC024078 Genomic DNA. No translation available.
    BC153880 mRNA. Translation: AAI53881.1.
    AY280362 mRNA. Translation: AAP35084.1. Different initiation.
    CCDSiCCDS12604.2. [Q7Z7M0-2]
    CCDS62693.1. [Q7Z7M0-1]
    PIRiT00209.
    RefSeqiNP_001258867.1. NM_001271938.1. [Q7Z7M0-1]
    NP_001401.2. NM_001410.2. [Q7Z7M0-2]
    UniGeneiHs.132483.

    Genome annotation databases

    EnsembliENST00000251268; ENSP00000251268; ENSG00000105429. [Q7Z7M0-1]
    ENST00000334370; ENSP00000334219; ENSG00000105429. [Q7Z7M0-2]
    GeneIDi1954.
    KEGGihsa:1954.
    UCSCiuc002otl.4. human. [Q7Z7M0-2]
    uc002otm.5. human. [Q7Z7M0-1]

    Polymorphism databases

    DMDMi218511690.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB011541 mRNA. Translation: BAA32469.2 . Different initiation.
    AC011497 Genomic DNA. No translation available.
    AC024078 Genomic DNA. No translation available.
    BC153880 mRNA. Translation: AAI53881.1 .
    AY280362 mRNA. Translation: AAP35084.1 . Different initiation.
    CCDSi CCDS12604.2. [Q7Z7M0-2 ]
    CCDS62693.1. [Q7Z7M0-1 ]
    PIRi T00209.
    RefSeqi NP_001258867.1. NM_001271938.1. [Q7Z7M0-1 ]
    NP_001401.2. NM_001410.2. [Q7Z7M0-2 ]
    UniGenei Hs.132483.

    3D structure databases

    ProteinModelPortali Q7Z7M0.
    SMRi Q7Z7M0. Positions 39-203, 211-343, 1084-1259, 1430-1483, 2201-2373.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108274. 6 interactions.
    IntActi Q7Z7M0. 8 interactions.
    MINTi MINT-2808456.
    STRINGi 9606.ENSP00000334219.

    PTM databases

    PhosphoSitei Q7Z7M0.

    Polymorphism databases

    DMDMi 218511690.

    Proteomic databases

    PaxDbi Q7Z7M0.
    PRIDEi Q7Z7M0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000251268 ; ENSP00000251268 ; ENSG00000105429 . [Q7Z7M0-1 ]
    ENST00000334370 ; ENSP00000334219 ; ENSG00000105429 . [Q7Z7M0-2 ]
    GeneIDi 1954.
    KEGGi hsa:1954.
    UCSCi uc002otl.4. human. [Q7Z7M0-2 ]
    uc002otm.5. human. [Q7Z7M0-1 ]

    Organism-specific databases

    CTDi 1954.
    GeneCardsi GC19P042829.
    HGNCi HGNC:3233. MEGF8.
    HPAi HPA049248.
    MIMi 604267. gene.
    614976. phenotype.
    neXtProti NX_Q7Z7M0.
    Orphaneti 65759. Carpenter syndrome.
    PharmGKBi PA27666.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG304142.
    HOGENOMi HOG000113554.
    HOVERGENi HBG108128.
    OMAi GHSMVFH.
    OrthoDBi EOG7J9VRK.
    PhylomeDBi Q7Z7M0.
    TreeFami TF321873.

    Enzyme and pathway databases

    SignaLinki Q7Z7M0.

    Miscellaneous databases

    ChiTaRSi MEGF8. human.
    GenomeRNAii 1954.
    NextBioi 7919.
    PROi Q7Z7M0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z7M0.
    Bgeei Q7Z7M0.
    CleanExi HS_MEGF8.
    Genevestigatori Q7Z7M0.

    Family and domain databases

    Gene3Di 2.120.10.80. 3 hits.
    2.60.120.290. 1 hit.
    InterProi IPR000859. CUB_dom.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR002049. EGF_laminin.
    IPR015915. Kelch-typ_b-propeller.
    IPR016201. Plexin-like_fold.
    IPR002165. Plexin_repeat.
    [Graphical view ]
    Pfami PF00431. CUB. 1 hit.
    PF07645. EGF_CA. 1 hit.
    PF00053. Laminin_EGF. 3 hits.
    PF01437. PSI. 1 hit.
    [Graphical view ]
    SMARTi SM00042. CUB. 1 hit.
    SM00181. EGF. 6 hits.
    SM00179. EGF_CA. 1 hit.
    SM00180. EGF_Lam. 1 hit.
    SM00423. PSI. 9 hits.
    [Graphical view ]
    SUPFAMi SSF49854. SSF49854. 1 hit.
    PROSITEi PS00010. ASX_HYDROXYL. 2 hits.
    PS01180. CUB. 2 hits.
    PS00022. EGF_1. 6 hits.
    PS01186. EGF_2. 7 hits.
    PS50026. EGF_3. 4 hits.
    PS01187. EGF_CA. 1 hit.
    PS01248. EGF_LAM_1. 4 hits.
    PS50027. EGF_LAM_2. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening."
      Nakayama M., Nakajima D., Nagase T., Nomura N., Seki N., Ohara O.
      Genomics 51:27-34(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Brain.
    2. Nakayama M., Nakajima D., Nagase T., Nomura N., Seki N., Ohara O.
      Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    5. "Cloning, characterization and location of a novel human gene containing an EGF domain."
      Shan Y.X., Yu L.
      Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 416-2845 (ISOFORM 1).
    6. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-1271.
      Tissue: Plasma.
    7. Cited for: VARIANTS CRPT2 ARG-199; HIS-1566 AND GLY-2434.

    Entry informationi

    Entry nameiMEGF8_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z7M0
    Secondary accession number(s): A8KAY0, O75097
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: December 16, 2008
    Last modified: October 1, 2014
    This is version 117 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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