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Q7Z7M0

- MEGF8_HUMAN

UniProt

Q7Z7M0 - MEGF8_HUMAN

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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

Functioni

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 26472620ExtracellularSequence AnalysisAdd
BLAST
Transmembranei2648 – 266821HelicalSequence AnalysisAdd
BLAST
Topological domaini2669 – 2845177CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiQ7Z7M0.
CleanExiHS_MEGF8.
ExpressionAtlasiQ7Z7M0. baseline and differential.
GenevestigatoriQ7Z7M0.

Organism-specific databases

HPAiHPA049248.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi108274. 9 interactions.
IntActiQ7Z7M0. 8 interactions.
MINTiMINT-2808456.
STRINGi9606.ENSP00000334219.

Structurei

3D structure databases

ProteinModelPortaliQ7Z7M0.
SMRiQ7Z7M0. Positions 39-203, 1123-1259, 2253-2408.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00390000001118.
HOGENOMiHOG000113554.
HOVERGENiHBG108128.
InParanoidiQ7Z7M0.
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

        10         20         30         40         50
MALGKVLAMA LVLALAVLGS LSPGARAGDC KGQRQVLREA PGFVTDGAGN
60 70 80 90 100
YSVNGNCEWL IEAPSPQHRI LLDFLFLDTE CTYDYLFVYD GDSPRGPLLA
110 120 130 140 150
SLSGSTRPPP IEASSGKMLL HLFSDANYNL LGFNASFRFS LCPGGCQSHG
160 170 180 190 200
QCQPPGVCAC EPGWGGPDCG LQECSAYCGS HGTCASPLGP CRCEPGFLGR
210 220 230 240 250
ACDLHLWENQ GAGWWHNVSA RDPAFSARIG AAGAFLSPPG LLAVFGGQDL
260 270 280 290 300
NNALGDLVLY NFSANTWESW DLSPAPAARH SHVAVAWAGS LVLMGGELAD
310 320 330 340 350
GSLTNDVWAF SPLGRGHWEL LAPPASSSSG PPGLAGHAAA LVDDVWLYVS
360 370 380 390 400
GGRTPHDLFS SGLFRFRLDS TSGGYWEQVI PAGGRPPAAT GHSMVFHAPS
410 420 430 440 450
RALLVHGGHR PSTARFSVRV NSTELFHVDR HVWTTLKGRD GLQGPRERAF
460 470 480 490 500
HTASVLGNYM VVYGGNVHTH YQEEKCYEDG IFFYHLGCHQ WVSGAELAPP
510 520 530 540 550
GTPEGRAAPP SGRYSHVAAV LGGSVLLVAG GYSGRPRGDL MAYKVPPFVF
560 570 580 590 600
QAPAPDYHLD YCSMYTDHSV CSRDPECSWC QGACQAAPPP GTPLGACPAA
610 620 630 640 650
SCLGLGRLLG DCQACLAFSS PTAPPRGPGT LGWCVHNESC LPRPEQARCR
660 670 680 690 700
GEQISGTVGW WGPAPVFVTS LEACVTQSFL PGLHLLTFQQ PPNTSQPDKV
710 720 730 740 750
SIVRSTTITL TPSAETDVSL VYRGFIYPML PGGPGGPGAE DVAVWTRAQR
760 770 780 790 800
LHVLARMARG PDTENMEEVG RWVAHQEKET RRLQRPGSAR LFPLPGRDHK
810 820 830 840 850
YAVEIQGQLN GSAGPGHSEL TLLWDRTGVP GGSEISFFFL EPYRSSSCTS
860 870 880 890 900
YSSCLGCLAD QGCGWCLTSA TCHLRQGGAH CGDDGAGGSL LVLVPTLCPL
910 920 930 940 950
CEEHRDCHAC TQDPFCEWHQ STSRKGDAAC SRRGRGRGAL KSPEECPPLC
960 970 980 990 1000
SQRLTCEDCL ANSSQCAWCQ STHTCFLFAA YLARYPHGGC RGWDDSVHSE
1010 1020 1030 1040 1050
PRCRSCDGFL TCHECLQSHE CGWCGNEDNP TLGRCLQGDF SGPLGGGNCS
1060 1070 1080 1090 1100
LWVGEGLGLP VALPARWAYA RCPDVDECRL GLARCHPRAT CLNTPLSYEC
1110 1120 1130 1140 1150
HCQRGYQGDG ISHCNRTCLE DCGHGVCSGP PDFTCVCDLG WTSDLPPPTP
1160 1170 1180 1190 1200
APGPPAPRCS RDCGCSFHSH CRKRGPGFCD ECQDWTWGEH CERCRPGSFG
1210 1220 1230 1240 1250
NATGSRGCRP CQCNGHGDPR RGHCDNLSGL CFCQDHTEGA HCQLCSPGYY
1260 1270 1280 1290 1300
GDPRAGGSCF RECGGRALLT NVSSVALGSR RVGGLLPPGG GAARAGPGLS
1310 1320 1330 1340 1350
YCVWVVSATE ELQPCAPGTL CPPLTLTFSP DSSTPCTLSY VLAFDGFPRF
1360 1370 1380 1390 1400
LDTGVVQSDR SLIAAFCGQR RDRPLTVQAL SGLLVLHWEA NGSSSWGFNA
1410 1420 1430 1440 1450
SVGSARCGSG GPGSCPVPQE CVPQDGAAGA GLCRCPQGWA GPHCRMALCP
1460 1470 1480 1490 1500
ENCNAHTGAG TCNQSLGVCI CAEGFGGPDC ATKLDGGQLV WETLMDSRLS
1510 1520 1530 1540 1550
ADTASRFLHR LGHTMVDGPD ATLWMFGGLG LPQGLLGNLY RYSVSERRWT
1560 1570 1580 1590 1600
QMLAGAEDGG PGPSPRSFHA AAYVPAGRGA MYLLGGLTAG GVTRDFWVLN
1610 1620 1630 1640 1650
LTTLQWRQEK APQTVELPAV AGHTLTARRG LSLLLVGGYS PENGFNQQLL
1660 1670 1680 1690 1700
EYQLATGTWV SGAQSGTPPT GLYGHSAVYH EATDSLYVFG GFRFHVELAA
1710 1720 1730 1740 1750
PSPELYSLHC PDRTWSLLAP SQGAKRDRMR NVRGSSRGLG QVPGEQPGSW
1760 1770 1780 1790 1800
GFREVRKKMA LWAALAGTGG FLEEISPHLK EPRPRLFHAS ALLGDTMVVL
1810 1820 1830 1840 1850
GGRSDPDEFS SDVLLYQVNC NAWLLPDLTR SASVGPPMEE SVAHAVAAVG
1860 1870 1880 1890 1900
SRLYISGGFG GVALGRLLAL TLPPDPCRLL SSPEACNQSG ACTWCHGACL
1910 1920 1930 1940 1950
SGDQAHRLGC GGSPCSPMPR SPEECRRLRT CSECLARHPR TLQPGDGEAS
1960 1970 1980 1990 2000
TPRCKWCTNC PEGACIGRNG SCTSENDCRI NQREVFWAGN CSEAACGAAD
2010 2020 2030 2040 2050
CEQCTREGKC MWTRQFKRTG ETRRILSVQP TYDWTCFSHS LLNVSPMPVE
2060 2070 2080 2090 2100
SSPPLPCPTP CHLLPNCTSC LDSKGADGGW QHCVWSSSLQ QCLSPSYLPL
2110 2120 2130 2140 2150
RCMAGGCGRL LRGPESCSLG CAQATQCALC LRRPHCGWCA WGGQDGGGRC
2160 2170 2180 2190 2200
MEGGLSGPRD GLTCGRPGAS WAFLSCPPED ECANGHHDCN ETQNCHDQPH
2210 2220 2230 2240 2250
GYECSCKTGY TMDNMTGLCR PVCAQGCVNG SCVEPDHCRC HFGFVGRNCS
2260 2270 2280 2290 2300
TECRCNRHSE CAGVGARDHC LLCRNHTKGS HCEQCLPLFV GSAVGGGTCR
2310 2320 2330 2340 2350
PCHAFCRGNS HICISRKELQ MSKGEPKKYS LDPEEIENWV TEGPSEDEAV
2360 2370 2380 2390 2400
CVNCQNNSYG EKCESCLQGY FLLDGKCTKC QCNGHADTCN EQDGTGCPCQ
2410 2420 2430 2440 2450
NNTETGTCQG SSPSDRRDCY KYQCAKCRES FHGSPLGGQQ CYRLISVEQE
2460 2470 2480 2490 2500
CCLDPTSQTN CFHEPKRRAL GPGRTVLFGV QPKFTNVDIR LTLDVTFGAV
2510 2520 2530 2540 2550
DLYVSTSYDT FVVRVAPDTG VHTVHIQPPP APPPPPPPAD GGPRGAGDPG
2560 2570 2580 2590 2600
GAGASSGPGA PAEPRVREVW PRGLITYVTV TEPSAVLVVR GVRDRLVITY
2610 2620 2630 2640 2650
PHEHHALKSS RFYLLLLGVG DPSGPGANGS ADSQGLLFFR QDQAHIDLFV
2660 2670 2680 2690 2700
FFSVFFSCFF LFLSLCVLLW KAKQALDQRQ EQRRHLQEMT KMASRPFAKV
2710 2720 2730 2740 2750
TVCFPPDPTA PASAWKPAGL PPPAFRRSEP FLAPLLLTGA GGPWGPMGGG
2760 2770 2780 2790 2800
CCPPAIPATT AGLRAGPITL EPTEDGMAGV ATLLLQLPGG PHAPNGACLG
2810 2820 2830 2840
SALVTLRHRL HEYCGGGGGA GGSGHGTGAG RKGLLSQDNL TSMSL
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.Curated
The sequence BAA32469.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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, 1123-1259, 2253-2408.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108274. 9 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.
GeneTreei ENSGT00390000001118.
HOGENOMi HOG000113554.
HOVERGENi HBG108128.
InParanoidi Q7Z7M0.
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

Bgeei Q7Z7M0.
CleanExi HS_MEGF8.
ExpressionAtlasi Q7Z7M0. baseline and differential.
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 ]
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Publicationsi

« Hide 'large scale' publications
  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: November 26, 2014
This is version 119 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

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