Reviewed, UniProtKB/Swiss-Prot Q9NVK5 (FGOP2_HUMAN)

Names and origin

Protein names

Recommended name:
    FGFR1 oncogene partner 2

Gene names

Name:	FGFR1OP2
ORF Names:	HSPC123

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	253 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	May be involved in wound healing pathway By similarity.
Subcellular location	Cytoplasm By similarity.
Tissue specificity	Expressed in bone marrow, spleen and thymus.
Involvement in disease	A chromosomal aberration involving FGFR1OP2 may be a cause of stem cell myeloproliferative disorder (MPD). Insertion ins(12;8)(p11;p11p22) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein FGFR1OP2-FGFR1 may exhibit constitutive kinase activity and be responsible for the transforming activity.
Sequence similarities	Belongs to the SIKE family.
Sequence caution	The sequence AAF29087.1 differs from that shown. Reason: Frameshift at positions 61, 67, 72 and 91. The sequence CAB56012.1 differs from that shown. Reason: Frameshift at position 189.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Domain	Coiled coil
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NVK5-1)

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.

Isoform 2 (identifier: Q9NVK5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     133-170: Missing.

Isoform 3 (identifier: Q9NVK5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     171-172: EL → VH
     173-253: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 253	253	FGFR1 oncogene partner 2		PRO_0000299041
Regions
	Coiled coil	5 – 104	100	Potential
	Coiled coil	160 – 223	64	Potential
Sites
	Site	132 – 133	2	Breakpoint for translocation to form FGFR1OP2-FGFR1
Natural variations
	Alternative sequence	133 – 170	38	Missing in isoform 2.		VSP_027538
	Alternative sequence	171 – 172	2	EL → VH in isoform 3.		VSP_027539
	Alternative sequence	173 – 253	81	Missing in isoform 3.		VSP_027540
Experimental info
	Sequence conflict	47	1	Q → W in CAB56012. Ref.5
	Sequence conflict	227	1	N → T in AAR91611. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 89F60BF3F96C3436	FASTA	253	29,426
	10 20 30 40 50 60 MSCTIEKALA DAKALVERLR DHDDAAESLI EQTTALNKRV EAMKQYQEEI QELNEVARHR 70 80 90 100 110 120 PRSTLVMGIQ QENRQIRELQ QENKELRTSL EEHQSALELI MSKYREQMFR LLMASKKDDP 130 140 150 160 170 180 GIIMKLKEQH SKIDMVHRNK SEGFFLDASR HILEAPQHGL ERRHLEANQN ELQAHVDQIT 190 200 210 220 230 240 EMAAVMRKAI EIDEQQGCKE QERIFQLEQE NKGLREILQI TRESFLNLRK DDASESTSLS 250 ALVTNSDLSL RKS
	Isoform 2. Checksum: 7714CC13876AFF6D	FASTA	215	24,977
	10 20 30 40 50 60 MSCTIEKALA DAKALVERLR DHDDAAESLI EQTTALNKRV EAMKQYQEEI QELNEVARHR 70 80 90 100 110 120 PRSTLVMGIQ QENRQIRELQ QENKELRTSL EEHQSALELI MSKYREQMFR LLMASKKDDP 130 140 150 160 170 180 GIIMKLKEQH SKELQAHVDQ ITEMAAVMRK AIEIDEQQGC KEQERIFQLE QENKGLREIL 190 200 210 QITRESFLNL RKDDASESTS LSALVTNSDL SLRKS
	Isoform 3. Checksum: 9270EF83F7B77D0C	FASTA	172	20,175
	10 20 30 40 50 60 MSCTIEKALA DAKALVERLR DHDDAAESLI EQTTALNKRV EAMKQYQEEI QELNEVARHR 70 80 90 100 110 120 PRSTLVMGIQ QENRQIRELQ QENKELRTSL EEHQSALELI MSKYREQMFR LLMASKKDDP 130 140 150 160 170 GIIMKLKEQH SKIDMVHRNK SEGFFLDASR HILEAPQHGL ERRHLEANQN VH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed: 11042152] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Blood.
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	Lin L., Zhong G., Ke R., Li H., Zhou G., Shen C., Yang S. Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Uterus.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 47-253 (ISOFORM 2). Tissue: Brain.
[6]	"Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome." Grand E.K., Grand F.H., Chase A.J., Ross F.M., Corcoran M.M., Oscier D.G., Cross N.C.P. Genes Chromosomes Cancer 40:78-83(2004) [PubMed: 15034873] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH FGFR1.
[7]	"Phosphotyrosine profiling identifies the KG-1 cell line as a model for the study of FGFR1 fusions in acute myeloid leukemia." Gu T.-L., Goss V.L., Reeves C., Popova L., Nardone J., Macneill J., Walters D.K., Wang Y., Rush J., Comb M.J., Druker B.J., Polakiewicz R.D. Blood 108:4202-4204(2006) [PubMed: 16946300] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH FGFR1.
[8]	"14-3-3 integrates pro-survival signals mediated by the AKT and MAPK pathways in ZNF198-FGFR1 transformed hematopoietic cells." Dong S., Kang S., Gu T., Kardar S., Fu H., Lonial S., Khoury H.J., Khuri F., Chen J. Blood 110:360-369(2007) [PubMed: 17389761] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH FGFR1.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF161472 mRNA. Translation: AAF29087.1. Frameshift. AK001534 mRNA. Translation: BAA91745.1. AY506561 mRNA. Translation: AAR91611.1. BC032143 mRNA. Translation: AAH32143.1. AL117608 mRNA. Translation: CAB56012.1. Frameshift.
IPI	IPI00014903. IPI00418970. IPI00795921.
PIR	T17322.
RefSeq	NP_056448.1.
UniGene	Hs.591162
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NVK5. 2 interactions.
Proteomic databases
PRIDE	Q9NVK5.
Genome annotation databases
Ensembl	ENSG00000111790. Homo sapiens. [Contig view]
GeneID	26127.
KEGG	hsa:26127.
Organism-specific databases
GeneCards	GC12P026984.
HGNC	HGNC:23098. FGFR1OP2.
MIM	608858. gene.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9NVK5.
HOVERGEN	Q9NVK5.
OMA	Q9NVK5. CEDEERI.
Gene expression databases
ArrayExpress	Q9NVK5.
Bgee	Q9NVK5.
CleanEx	HS_FGFR1OP2.
Family and domain databases
InterPro	IPR008555. DUF837. [Graphical view]
PANTHER	PTHR12186. DUF837. 1 hit.
Pfam	PF05769. DUF837. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	48145.
SOURCE	Search...

Entry information

Entry name

FGOP2_HUMAN

Accession

Primary (citable) accession number: Q9NVK5
Secondary accession number(s): Q6R955 , Q8N5L7, Q9P034, Q9UFK8

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 21, 2007
Last sequence update:	October 1, 2000
Last modified:	June 16, 2009
This is version 39 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)