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Protein

Epidermal growth factor-like protein 6

Gene

EGFL6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

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 ↔ 109
Disulfide bondi105 ↔ 118
Disulfide bondi120 ↔ 132
Disulfide bondi178 ↔ 191
Disulfide bondi185 ↔ 200
Disulfide bondi223 ↔ 236
Disulfide bondi230 ↔ 245
Disulfide bondi247 ↔ 258
Glycosylationi397N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8IUX8.
PRIDEiQ8IUX8.

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.
MINTiMINT-1398966.
STRINGi9606.ENSP00000369976.

Structurei

3D structure databases

ProteinModelPortaliQ8IUX8.
SMRiQ8IUX8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini65 – 91EGF-like 1Add BLAST27
Domaini94 – 133EGF-like 2; calcium-bindingAdd BLAST40
Domaini137 – 173EGF-like 3Add BLAST37
Domaini174 – 212EGF-like 4; calcium-bindingAdd BLAST39
Domaini219 – 259EGF-like 5; calcium-bindingAdd BLAST41
Domaini400 – 546MAMAdd 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.
GeneTreeiENSGT00900000141004.
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: November 22, 2017
This is version 124 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