Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Epidermal growth factor-like protein 6

Gene

EGFL6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly (By similarity).By similarity

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • integrin binding Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processCell adhesion, Differentiation
LigandCalcium

Names & Taxonomyi

Protein namesi
Recommended name:
Epidermal growth factor-like protein 6
Short name:
EGF-like protein 6
Alternative name(s):
MAM and EGF domains-containing gene protein
Gene namesi
Name:EGFL6
Synonyms:MAEG
ORF Names:PP648, UNQ281/PRO320
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000198759.11
HGNCiHGNC:3235 EGFL6
MIMi300239 gene
neXtProtiNX_Q8IUX8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi25975
OpenTargetsiENSG00000198759
PharmGKBiPA27668

Polymorphism and mutation databases

BioMutaiEGFL6
DMDMi74728003

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000029581122 – 553Epidermal growth factor-like protein 6Add BLAST532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi98 ↔ 109PROSITE-ProRule annotation
Disulfide bondi105 ↔ 118PROSITE-ProRule annotation
Disulfide bondi120 ↔ 132PROSITE-ProRule annotation
Disulfide bondi178 ↔ 191PROSITE-ProRule annotation
Disulfide bondi185 ↔ 200PROSITE-ProRule annotation
Disulfide bondi223 ↔ 236PROSITE-ProRule annotation
Disulfide bondi230 ↔ 245PROSITE-ProRule annotation
Disulfide bondi247 ↔ 258PROSITE-ProRule annotation
Glycosylationi397N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8IUX8
PeptideAtlasiQ8IUX8
PRIDEiQ8IUX8
ProteomicsDBi70628
70629 [Q8IUX8-2]

PTM databases

iPTMnetiQ8IUX8
PhosphoSitePlusiQ8IUX8

Expressioni

Developmental stagei

Only detected in fetal tissues.2 Publications

Gene expression databases

BgeeiENSG00000198759
CleanExiHS_EGFL6
GenevisibleiQ8IUX8 HS

Organism-specific databases

HPAiHPA001838

Interactioni

GO - Molecular functioni

  • integrin binding Source: ProtInc

Protein-protein interaction databases

BioGridi117459, 18 interactors
IntActiQ8IUX8, 3 interactors
MINTiQ8IUX8
STRINGi9606.ENSP00000369976

Structurei

3D structure databases

ProteinModelPortaliQ8IUX8
SMRiQ8IUX8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini65 – 91EGF-like 1PROSITE-ProRule annotationAdd BLAST27
Domaini94 – 133EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini137 – 173EGF-like 3PROSITE-ProRule annotationAdd BLAST37
Domaini174 – 212EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini219 – 259EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini400 – 546MAMPROSITE-ProRule annotationAdd BLAST147

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili331 – 363Sequence analysisAdd BLAST33

Sequence similaritiesi

Belongs to the nephronectin family.Curated

Keywords - Domaini

Coiled coil, EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR6X Eukaryota
ENOG410XR84 LUCA
GeneTreeiENSGT00920000149031
HOVERGENiHBG108200
InParanoidiQ8IUX8
OMAiPQSNFCL
OrthoDBiEOG091G0ABU
PhylomeDBiQ8IUX8
TreeFamiTF330819

Family and domain databases

CDDicd06263 MAM, 1 hit
InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR032930 Egfl6
IPR009030 Growth_fac_rcpt_cys_sf
IPR000998 MAM_dom
PANTHERiPTHR44771 PTHR44771, 1 hit
PfamiView protein in Pfam
PF07645 EGF_CA, 3 hits
PF00629 MAM, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 5 hits
SM00179 EGF_CA, 3 hits
SM00137 MAM, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
SSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 3 hits
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 3 hits
PS01187 EGF_CA, 3 hits
PS50060 MAM_2, 1 hit

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: Q8IUX8-1) [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
MPLPWSLALP LLLSWVAGGF GNAASARHHG LLASARQPGV CHYGTKLACC
60 70 80 90 100
YGWRRNSKGV CEATCEPGCK FGECVGPNKC RCFPGYTGKT CSQDVNECGM
110 120 130 140 150
KPRPCQHRCV NTHGSYKCFC LSGHMLMPDA TCVNSRTCAM INCQYSCEDT
160 170 180 190 200
EEGPQCLCPS SGLRLAPNGR DCLDIDECAS GKVICPYNRR CVNTFGSYYC
210 220 230 240 250
KCHIGFELQY ISGRYDCIDI NECTMDSHTC SHHANCFNTQ GSFKCKCKQG
260 270 280 290 300
YKGNGLRCSA IPENSVKEVL RAPGTIKDRI KKLLAHKNSM KKKAKIKNVT
310 320 330 340 350
PEPTRTPTPK VNLQPFNYEE IVSRGGNSHG GKKGNEEKMK EGLEDEKREE
360 370 380 390 400
KALKNDIEER SLRGDVFFPK VNEAGEFGLI LVQRKALTSK LEHKDLNISV
410 420 430 440 450
DCSFNHGICD WKQDREDDFD WNPADRDNAI GFYMAVPALA GHKKDIGRLK
460 470 480 490 500
LLLPDLQPQS NFCLLFDYRL AGDKVGKLRV FVKNSNNALA WEKTTSEDEK
510 520 530 540 550
WKTGKIQLYQ GTDATKSIIF EAERGKGKTG EIAVDGVLLV SGLCPDSLLS

VDD
Length:553
Mass (Da):61,317
Last modified:March 1, 2003 - v1
Checksum:i3AE93A0362E861E0
GO
Isoform 2 (identifier: Q8IUX8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     394-394: K → KA

Show »
Length:554
Mass (Da):61,388
Checksum:iD519238F2A604101
GO

Sequence cautioni

The sequence AAG22483 differs from that shown. Reason: Frameshift at position 89.Curated
The sequence AAQ88699 differs from that shown. Reason: Frameshift at position 338.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti22N → D in BAC11477 (PubMed:14702039).Curated1
Sequence conflicti83F → L in CAB56014 (PubMed:17974005).Curated1
Sequence conflicti134N → Y in CAB56014 (PubMed:17974005).Curated1
Sequence conflicti230C → S in CAB56014 (PubMed:17974005).Curated1
Sequence conflicti320E → G in CAB56014 (PubMed:17974005).Curated1
Sequence conflicti464L → S in CAB56014 (PubMed:17974005).Curated1
Sequence conflicti521E → V in CAB56014 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03336666E → K. Corresponds to variant dbSNP:rs16979010Ensembl.1
Natural variantiVAR_033367164R → C. Corresponds to variant dbSNP:rs34613284Ensembl.1
Natural variantiVAR_033368508L → F1 PublicationCorresponds to variant dbSNP:rs34550481Ensembl.1
Natural variantiVAR_033369535D → N. Corresponds to variant dbSNP:rs16979033Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027089394K → KA in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF186084 mRNA Translation: AAF27812.1
AJ245671 mRNA Translation: CAB92132.1
AF193055 mRNA Translation: AAG22483.1 Frameshift.
AY358333 mRNA Translation: AAQ88699.1 Frameshift.
AK075214 mRNA Translation: BAC11477.1
AK315018 mRNA Translation: BAG37508.1
AL117610 mRNA Translation: CAB56014.2
CH471074 Genomic DNA Translation: EAW98822.1
BC038587 mRNA Translation: AAH38587.1
CCDSiCCDS14155.1 [Q8IUX8-1]
CCDS55370.1 [Q8IUX8-2]
PIRiT17324
RefSeqiNP_001161362.1, NM_001167890.1 [Q8IUX8-2]
NP_056322.2, NM_015507.3 [Q8IUX8-1]
UniGeneiHs.12844

Genome annotation databases

EnsembliENST00000361306; ENSP00000355126; ENSG00000198759 [Q8IUX8-1]
ENST00000380602; ENSP00000369976; ENSG00000198759 [Q8IUX8-2]
GeneIDi25975
KEGGihsa:25975
UCSCiuc004cvi.4 human [Q8IUX8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEGFL6_HUMAN
AccessioniPrimary (citable) accession number: Q8IUX8
Secondary accession number(s): B2RCB1
, Q6UXJ1, Q8NBV0, Q8WYG3, Q9NY67, Q9NZL7, Q9UFK6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: March 1, 2003
Last modified: June 20, 2018
This is version 127 of the entry and version 1 of the sequence. See 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 X
    Human chromosome X: 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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health