Q9NWQ4 (GPT2L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
G patch domain-containing protein 2-like

Gene names

Name:	GPATCH2L
Synonyms:	C14orf118, KIAA1152

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	482 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence caution

The sequence BAA86466.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAA91325.1 differs from that shown. Reason: Frameshift at position 344. The sequence BAA91411.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

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

Isoform 1 (identifier: Q9NWQ4-3)

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: Q9NWQ4-1)

The sequence of this isoform differs from the canonical sequence as follows:
     329-351: ETSINTLGTERISHIISDPRQKE → VIPLTVSLAQWGDNIPYGSCVSY
     352-482: Missing.

Isoform 4 (identifier: Q9NWQ4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     351-369: EKNKALASDFPHISACAHE → DFWLPSAGKRERNQ

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 482	482	G patch domain-containing protein 2-like		PRO_0000089927
Regions
	Compositional bias	33 – 48	16	Arg-rich
Amino acid modifications
	Modified residue	86	1	Phosphoserine Ref.6 Ref.8 Ref.9 Ref.10
	Modified residue	88	1	Phosphoserine Ref.6 Ref.8 Ref.9 Ref.10
	Modified residue	91	1	Phosphothreonine Ref.10
	Modified residue	447	1	Phosphoserine Ref.9 Ref.10
	Modified residue	449	1	Phosphoserine Ref.10
Natural variations
	Alternative sequence	329 – 351	23	ETSIN…PRQKE → VIPLTVSLAQWGDNIPYGSC VSY in isoform 2.		VSP_014714
	Alternative sequence	351 – 369	19	EKNKA…ACAHE → DFWLPSAGKRERNQ in isoform 4.		VSP_039861
	Alternative sequence	352 – 482	131	Missing in isoform 2.		VSP_014716
	Natural variant	132	1	V → E. Corresponds to variant rs17104086 [ dbSNP | Ensembl ].		VAR_056838
Experimental info
	Sequence conflict	187	1	S → L in BAA91325. Ref.2
	Sequence conflict	241	1	R → G in BAA91325. Ref.2
	Sequence conflict	411	1	D → V in BAA91411. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 5, 2010. Version 3. Checksum: 1BA1C5B38DC6373E	FASTA	482	54,260
	10 20 30 40 50 60 MDELVHDLAS ALEQTSEQNK LGELWEEMAL SPRQQRRQLR KRRGRKRRSD FTHLAEHTCC 70 80 90 100 110 120 YSEASESSLD EATKDCREVA PVTNFSDSDD TMVAKRHPAL NAIVKSKQHS WHESDSFTEN 130 140 150 160 170 180 APCRPLRRRR KVKRVTSEVA ASLQQKLKVS DWSYERGCRF KSAKKQRLSR WKENTPWTSS 190 200 210 220 230 240 GHGLCESAEN RTFLSKTGRK ERMECETDEQ KQGSDENMSE CETSSVCSSS DTGLFTNDEG 250 260 270 280 290 300 RQGDDEQSDW FYEGECVPGF TVPNLLPKWA PDHCSEVERM DSGLDKFSDS TFLLPSRPAQ 310 320 330 340 350 360 RGYHTRLNRL PGAAARCLRK GRRRLVGKET SINTLGTERI SHIISDPRQK EKNKALASDF 370 380 390 400 410 420 PHISACAHEF NPLSPLYSLD VLADASHRRC SPAHCSARQA NVHWGPPCSR DIKRKRKPVA 430 440 450 460 470 480 TASLSSPSAV HMDAVEPTTP ASQAPKSPSS EWLVRTSAAE KATDATTATF FKMPQEKSPG YS
	Isoform 2 [UniParc]. Checksum: 17549F20A3E6A6C1	FASTA	351	40,051
	10 20 30 40 50 60 MDELVHDLAS ALEQTSEQNK LGELWEEMAL SPRQQRRQLR KRRGRKRRSD FTHLAEHTCC 70 80 90 100 110 120 YSEASESSLD EATKDCREVA PVTNFSDSDD TMVAKRHPAL NAIVKSKQHS WHESDSFTEN 130 140 150 160 170 180 APCRPLRRRR KVKRVTSEVA ASLQQKLKVS DWSYERGCRF KSAKKQRLSR WKENTPWTSS 190 200 210 220 230 240 GHGLCESAEN RTFLSKTGRK ERMECETDEQ KQGSDENMSE CETSSVCSSS DTGLFTNDEG 250 260 270 280 290 300 RQGDDEQSDW FYEGECVPGF TVPNLLPKWA PDHCSEVERM DSGLDKFSDS TFLLPSRPAQ 310 320 330 340 350 RGYHTRLNRL PGAAARCLRK GRRRLVGKVI PLTVSLAQWG DNIPYGSCVS Y
	Isoform 4 [UniParc]. Checksum: 4E062C76A034A1DD	FASTA	477	53,895
	10 20 30 40 50 60 MDELVHDLAS ALEQTSEQNK LGELWEEMAL SPRQQRRQLR KRRGRKRRSD FTHLAEHTCC 70 80 90 100 110 120 YSEASESSLD EATKDCREVA PVTNFSDSDD TMVAKRHPAL NAIVKSKQHS WHESDSFTEN 130 140 150 160 170 180 APCRPLRRRR KVKRVTSEVA ASLQQKLKVS DWSYERGCRF KSAKKQRLSR WKENTPWTSS 190 200 210 220 230 240 GHGLCESAEN RTFLSKTGRK ERMECETDEQ KQGSDENMSE CETSSVCSSS DTGLFTNDEG 250 260 270 280 290 300 RQGDDEQSDW FYEGECVPGF TVPNLLPKWA PDHCSEVERM DSGLDKFSDS TFLLPSRPAQ 310 320 330 340 350 360 RGYHTRLNRL PGAAARCLRK GRRRLVGKET SINTLGTERI SHIISDPRQK DFWLPSAGKR 370 380 390 400 410 420 ERNQFNPLSP LYSLDVLADA SHRRCSPAHC SARQANVHWG PPCSRDIKRK RKPVATASLS 430 440 450 460 470 SPSAVHMDAV EPTTPASQAP KSPSSEWLVR TSAAEKATDA TTATFFKMPQ EKSPGYS

References

[1]	"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain." Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O. DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 176-482 (ISOFORM 4). Tissue: Embryo, Ileal mucosa and Placenta.
[3]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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 2). Tissue: Lung.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-86 AND SER-88, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-86 AND SER-88, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[9]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-86; SER-88 AND SER-447, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-86; SER-88; THR-91; SER-447 AND SER-449, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB032978 mRNA. Translation: BAA86466.1. Different initiation. AK000696 mRNA. Translation: BAA91325.1. Frameshift. AK000895 mRNA. Translation: BAA91411.1. Different initiation. AK023523 mRNA. Translation: BAG51204.1. AC016526 Genomic DNA. Translation: AAG38637.1. CH471061 Genomic DNA. Translation: EAW81252.1. CH471061 Genomic DNA. Translation: EAW81253.1. BC058032 mRNA. Translation: AAH58032.1.
IPI	IPI00016731. IPI00619912. IPI00855988.
RefSeq	NP_060396.2. NM_017926.2. NP_060442.2. NM_017972.2.
UniGene	Hs.410231.
3D structure databases
ProteinModelPortal	Q9NWQ4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NWQ4. 1 interaction.
PTM databases
PhosphoSite	Q9NWQ4.
Polymorphism databases
DMDM	308153614.
Proteomic databases
PaxDb	Q9NWQ4.
PRIDE	Q9NWQ4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000261530; ENSP00000261530; ENSG00000089916. ENST00000312858; ENSP00000323775; ENSG00000089916. ENST00000556663; ENSP00000450657; ENSG00000089916. ENST00000557263; ENSP00000451587; ENSG00000089916.
GeneID	55668.
KEGG	hsa:55668.
UCSC	uc001xsh.3. human. uc001xsi.3. human. uc001xsj.1. human.
Organism-specific databases
CTD	55668.
GeneCards	GC14P076618.
H-InvDB	HIX0011833.
HGNC	HGNC:20210. GPATCH2L.
HPA	HPA018856.
neXtProt	NX_Q9NWQ4.
PharmGKB	PA134963976.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG310293.
HOGENOM	HOG000294060.
HOVERGEN	HBG081274.
OMA	GPPCSRD.
OrthoDB	EOG4XWFXP.
PhylomeDB	Q9NWQ4.
Gene expression databases
ArrayExpress	Q9NWQ4.
Bgee	Q9NWQ4.
CleanEx	HS_C14orf118.
Genevestigator	Q9NWQ4.
GermOnline	ENSG00000089916. Homo sapiens.
Family and domain databases
InterPro	IPR026291. Gpatch2. [Graphical view]
PANTHER	PTHR14195. PTHR14195. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	C14orf118. human.
GenomeRNAi	55668.
NextBio	60430.

Entry information

Entry name

GPT2L_HUMAN

Accession

Primary (citable) accession number: Q9NWQ4
Secondary accession number(s): B3KN42 , Q6PEJ7, Q9H3M3, Q9NWH0, Q9ULR8

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 2, 2005
Last sequence update:	October 5, 2010
Last modified:	April 3, 2013
This is version 79 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.