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Q8IUX8

- EGFL6_HUMAN

UniProt

Q8IUX8 - EGFL6_HUMAN

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Protein

Epidermal growth factor-like protein 6

Gene
EGFL6, MAEG, PP648, UNQ281/PRO320
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. integrin binding Source: ProtInc

GO - Biological processi

  1. cell adhesion Source: UniProtKB-KW
  2. cell cycle Source: ProtInc
  3. cell differentiation Source: UniProtKB-KW
  4. extracellular matrix organization Source: Ensembl
  5. multicellular organismal development Source: UniProtKB-KW
  6. positive regulation of cell-substrate adhesion Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion, Differentiation

Keywords - Ligandi

Calcium

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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:3235. EGFL6.

Subcellular locationi

GO - Cellular componenti

  1. basement membrane Source: UniProtKB-SubCell
  2. extracellular space Source: ProtInc
  3. membrane Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27668.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121 Reviewed predictionAdd
BLAST
Chaini22 – 553532Epidermal growth factor-like protein 6PRO_0000295811Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi98 ↔ 109 By similarity
Disulfide bondi105 ↔ 118 By similarity
Disulfide bondi120 ↔ 132 By similarity
Disulfide bondi178 ↔ 191 By similarity
Disulfide bondi185 ↔ 200 By similarity
Disulfide bondi223 ↔ 236 By similarity
Disulfide bondi230 ↔ 245 By similarity
Disulfide bondi247 ↔ 258 By similarity
Glycosylationi397 – 3971N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8IUX8.
PRIDEiQ8IUX8.

PTM databases

PhosphoSiteiQ8IUX8.

Expressioni

Developmental stagei

Only detected in fetal tissues.2 Publications

Gene expression databases

BgeeiQ8IUX8.
CleanExiHS_EGFL6.
GenevestigatoriQ8IUX8.

Organism-specific databases

HPAiHPA001838.

Interactioni

Protein-protein interaction databases

BioGridi117459. 2 interactions.
IntActiQ8IUX8. 2 interactions.
MINTiMINT-1398966.

Structurei

3D structure databases

ProteinModelPortaliQ8IUX8.
SMRiQ8IUX8. Positions 36-254.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini65 – 9127EGF-like 1Add
BLAST
Domaini94 – 13340EGF-like 2; calcium-binding Reviewed predictionAdd
BLAST
Domaini137 – 17337EGF-like 3Add
BLAST
Domaini174 – 21239EGF-like 4; calcium-binding Reviewed predictionAdd
BLAST
Domaini219 – 25941EGF-like 5; calcium-binding Reviewed predictionAdd
BLAST
Domaini400 – 546147MAMAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili331 – 36333 Reviewed predictionAdd
BLAST

Sequence similaritiesi

Belongs to the nephronectin family.
Contains 5 EGF-like domains.
Contains 1 MAM domain.

Keywords - Domaini

Coiled coil, EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG254583.
HOVERGENiHBG108200.
OMAiPQSNFCL.
OrthoDBiEOG73RBB8.
PhylomeDBiQ8IUX8.
TreeFamiTF330819.

Family and domain databases

Gene3Di2.40.155.10. 1 hit.
InterProiIPR008985. ConA-like_lec_gl_sf.
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.
IPR023413. GFP_like.
IPR009030. Growth_fac_rcpt_N_dom.
IPR000998. MAM_dom.
[Graphical view]
PfamiPF07645. EGF_CA. 3 hits.
PF00629. MAM. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 2 hits.
SM00179. EGF_CA. 3 hits.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS00010. 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.
[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: 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

MPLPWSLALP LLLSWVAGGF GNAASARHHG LLASARQPGV CHYGTKLACC    50
YGWRRNSKGV CEATCEPGCK FGECVGPNKC RCFPGYTGKT CSQDVNECGM 100
KPRPCQHRCV NTHGSYKCFC LSGHMLMPDA TCVNSRTCAM INCQYSCEDT 150
EEGPQCLCPS SGLRLAPNGR DCLDIDECAS GKVICPYNRR CVNTFGSYYC 200
KCHIGFELQY ISGRYDCIDI NECTMDSHTC SHHANCFNTQ GSFKCKCKQG 250
YKGNGLRCSA IPENSVKEVL RAPGTIKDRI KKLLAHKNSM KKKAKIKNVT 300
PEPTRTPTPK VNLQPFNYEE IVSRGGNSHG GKKGNEEKMK EGLEDEKREE 350
KALKNDIEER SLRGDVFFPK VNEAGEFGLI LVQRKALTSK LEHKDLNISV 400
DCSFNHGICD WKQDREDDFD WNPADRDNAI GFYMAVPALA GHKKDIGRLK 450
LLLPDLQPQS NFCLLFDYRL AGDKVGKLRV FVKNSNNALA WEKTTSEDEK 500
WKTGKIQLYQ GTDATKSIIF EAERGKGKTG EIAVDGVLLV SGLCPDSLLS 550
VDD 553
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 AAG22483.1 differs from that shown. Reason: Frameshift at position 89.
The sequence AAQ88699.1 differs from that shown. Reason: Frameshift at position 338.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661E → K.
Corresponds to variant rs16979010 [ dbSNP | Ensembl ].
VAR_033366
Natural varianti164 – 1641R → C.
Corresponds to variant rs34613284 [ dbSNP | Ensembl ].
VAR_033367
Natural varianti508 – 5081L → F.1 Publication
Corresponds to variant rs34550481 [ dbSNP | Ensembl ].
VAR_033368
Natural varianti535 – 5351D → N.
Corresponds to variant rs16979033 [ dbSNP | Ensembl ].
VAR_033369

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei394 – 3941K → KA in isoform 2. VSP_027089

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti22 – 221N → D in BAC11477. 1 Publication
Sequence conflicti83 – 831F → L in CAB56014. 1 Publication
Sequence conflicti134 – 1341N → Y in CAB56014. 1 Publication
Sequence conflicti230 – 2301C → S in CAB56014. 1 Publication
Sequence conflicti320 – 3201E → G in CAB56014. 1 Publication
Sequence conflicti464 – 4641L → S in CAB56014. 1 Publication
Sequence conflicti521 – 5211E → V in CAB56014. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q8IUX8-1]
uc004cvj.3. human. [Q8IUX8-2]

Polymorphism databases

DMDMi74728003.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS14155.1. [Q8IUX8-1 ]
CCDS55370.1. [Q8IUX8-2 ]
PIRi T17324.
RefSeqi NP_001161362.1. NM_001167890.1. [Q8IUX8-2 ]
NP_056322.2. NM_015507.3. [Q8IUX8-1 ]
UniGenei Hs.12844.

3D structure databases

ProteinModelPortali Q8IUX8.
SMRi Q8IUX8. Positions 36-254.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117459. 2 interactions.
IntActi Q8IUX8. 2 interactions.
MINTi MINT-1398966.

PTM databases

PhosphoSitei Q8IUX8.

Polymorphism databases

DMDMi 74728003.

Proteomic databases

PaxDbi Q8IUX8.
PRIDEi Q8IUX8.

Protocols and materials databases

DNASUi 25975.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361306 ; ENSP00000355126 ; ENSG00000198759 . [Q8IUX8-1 ]
ENST00000380602 ; ENSP00000369976 ; ENSG00000198759 . [Q8IUX8-2 ]
GeneIDi 25975.
KEGGi hsa:25975.
UCSCi uc004cvi.3. human. [Q8IUX8-1 ]
uc004cvj.3. human. [Q8IUX8-2 ]

Organism-specific databases

CTDi 25975.
GeneCardsi GC0XP013497.
HGNCi HGNC:3235. EGFL6.
HPAi HPA001838.
MIMi 300239. gene.
neXtProti NX_Q8IUX8.
PharmGKBi PA27668.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG254583.
HOVERGENi HBG108200.
OMAi PQSNFCL.
OrthoDBi EOG73RBB8.
PhylomeDBi Q8IUX8.
TreeFami TF330819.

Miscellaneous databases

GenomeRNAii 25975.
NextBioi 47618.
PROi Q8IUX8.
SOURCEi Search...

Gene expression databases

Bgeei Q8IUX8.
CleanExi HS_EGFL6.
Genevestigatori Q8IUX8.

Family and domain databases

Gene3Di 2.40.155.10. 1 hit.
InterProi IPR008985. ConA-like_lec_gl_sf.
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.
IPR023413. GFP_like.
IPR009030. Growth_fac_rcpt_N_dom.
IPR000998. MAM_dom.
[Graphical view ]
Pfami PF07645. EGF_CA. 3 hits.
PF00629. MAM. 1 hit.
[Graphical view ]
SMARTi SM00181. EGF. 2 hits.
SM00179. EGF_CA. 3 hits.
[Graphical view ]
SUPFAMi SSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEi 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.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of a novel epidermal growth factor repeat containing gene EGFL6: expressed in tumor and fetal tissues."
    Yeung G., Mulero J.J., Berntsen R.P., Loeb D.B., Drmanac R., Ford J.E.
    Genomics 62:304-307(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE.
    Tissue: Fetal liver.
  2. "Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders."
    Buchner G., Orfanelli U., Quaderi N., Bassi M.T., Andolfi G.
    Genomics 65:16-23(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), DEVELOPMENTAL STAGE.
    Tissue: Teratocarcinoma.
  3. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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 1).
    Tissue: Brain.
  9. Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-508.

Entry informationi

Entry nameiEGFL6_HUMAN
AccessioniPrimary (citable) accession number: Q8IUX8
Secondary accession number(s): B2RCB1
, Q6UXJ1, Q8NBV0, Q8WYG3, Q9NY67, Q9NZL7, Q9UFK6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 96 of the entry and version 1 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 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

External Data

Dasty 3

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