UniProtKB/SwissProt variant VAR

Pre-B-cell leukemia transcription factor-interacting protein 1
Gene: PBXIP1
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Variant information Variant position:

357
Type of variant:

LB/B
Residue change:

From Glycine (G) to Aspartate (D) at position 357 (G357D, p.Gly357Asp).
Physico-chemical properties:

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

-1
Other resources:

Variant rs2061690 [ dbSNP | Ensembl ]

Sequence information Variant position:

357
Protein sequence length:

731
Location on the sequence:

RLQGLEADCVRGPDGVCLSG G RGPQGDKAIREQGPREQEPE
Residue conservation:

Human                         RLQGLEADCVRGPDGVCLSGGRGPQGDKAIREQGPREQEPE

Mouse                         RLQGLEANCVRGVDGVCLNWGGDPQDGKATKEQGHKGQEPD

Rat                           RLQGLEANCVRGVDGVCLNWGGSPQGGKATTEQGHKGQEPD

Bovine                        QLQGLEADCVQGADGLCLQWGRGPQAGQVTKEQGPTGQEPS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 731	Pre-B-cell leukemia transcription factor-interacting protein 1
Region	354 – 377	Disordered

Literature citations
Functional cloning and characterization of a novel nonhomeodomain protein that inhibits the binding of PBX1-HOX complexes to DNA.
Abramovich C.; Shen W.-F.; Pineault N.; Imren S.; Montpetit B.; Largman C.; Humphries R.K.;
J. Biol. Chem. 275:26172-26177(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INTERACTION WITH PBX1; PBX2 AND PBX3; VARIANT ASP-357; 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] (ISOFORMS 2 AND 3); VARIANT ASP-357;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96AQ6: Variant p.Gly357Asp