UniProtKB/SwissProt variant VAR

Endosome-associated-trafficking regulator 1
Gene: ENTR1
Feedback?

Variant information Variant position:

176
Type of variant:

LB/B
Residue change:

From Glutamate (E) to Glycine (G) at position 176 (E176G, p.Glu176Gly).
Physico-chemical properties:

Change from medium size and acidic (E) to glycine (G)
BLOSUM score:

-2
Other resources:

Variant rs17851182 [ dbSNP | Ensembl ]

Sequence information Variant position:

176
Protein sequence length:

435
Location on the sequence:

GLEYQQPFFEDPTGAGDLLD E EEDEDTGWSGAYLPSAIEQT
Residue conservation:

Human                         GLEYQQPFFEDPTGAGDLLDEEEDEDTGWSGAYLPSAIEQT

Mouse                         GLESQQPFFEDPTRASNL---EEDEDDGWNITYLPSAVDQT

Bovine                        GLEYQQPFFEDPTGAGDLLDEDEDEEDGWNGAYLPSAMEQT

Xenopus tropicalis            NLEFQETYFRDPTLYDDL---QEDEDDDWSGSYHPSVIENT

Zebrafish                     DFATKGPFFTDPSALCQP--PESEPDETWIESHQRSAIEGS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 435	Endosome-associated-trafficking regulator 1
Region	136 – 185	Disordered
Region	173 – 198	Required for interaction with PTPN13
Compositional bias	173 – 182	Acidic residues
Mutagenesis	190 – 190	P -> A. Disrupts interaction with PTPN13.
Mutagenesis	194 – 194	E -> A. Disrupts interaction with PTPN13.

Literature citations
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)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 80-435 (ISOFORMS 1/3); VARIANT GLY-176;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96C92: Variant p.Glu176Gly