O75323 (NIPS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein NipSnap homolog 2
Short name=NipSnap2

Alternative name(s):
Glioblastoma-amplified sequence

Gene names

Name:	GBAS
Synonyms:	NIPSNAP2

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	286 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Widely expressed. Most abundant in heart and skeletal muscle.
Sequence similarities	Belongs to the NipSnap family.
Sequence caution	The sequence CAA04633.1 differs from that shown. Reason: Frameshift at positions 8, 11 and 17.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP biosynthetic process Inferred from mutant phenotype PubMed 20888800. Source: BHF-UCL negative regulation of ATP citrate synthase activity Inferred from mutant phenotype PubMed 20888800. Source: BHF-UCL oxidative phosphorylation Inferred from mutant phenotype PubMed 20888800. Source: BHF-UCL
Cellular_component	integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc mitochondrion Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
GABARAP	O95166	5	EBI-307133,EBI-712001
GABARAPL1	Q9H0R8	6	EBI-307133,EBI-746969
GABARAPL2	P60520	6	EBI-307133,EBI-720116
MAP1LC3B	Q9GZQ8	4	EBI-307133,EBI-373144
MAP1LC3C	Q9BXW4	2	EBI-307133,EBI-2603996

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75323-1)

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: O75323-2)

The sequence of this isoform differs from the canonical sequence as follows:
     79-148: HNVKPECLEA...EVMNKLRENK → KRCCQRFTKINTTLVLWWGLGTRGMASRTKL

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 286	286	Protein NipSnap homolog 2		PRO_0000221148
Natural variations
	Alternative sequence	79 – 148	70	HNVKP…LRENK → KRCCQRFTKINTTLVLWWGL GTRGMASRTKL in isoform 2.		VSP_044708
Experimental info
	Sequence conflict	12	1	A → P in CAA04633. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: 7ED85297E4DC9D08	FASTA	286	33,743
	10 20 30 40 50 60 MAARVLRARG AAWAGGLLQR AAPCSLLPRL RTWTSSSNRS REDSWLKSLF VRKVDPRKDA 70 80 90 100 110 120 HSNLLAKKET SNLYKLQFHN VKPECLEAYN KICQEVLPKI HEDKHYPCTL VGTWNTWYGE 130 140 150 160 170 180 QDQAVHLWRY EGGYPALTEV MNKLRENKEF LEFRKARSDM LLSRKNQLLL EFSFWNEPVP 190 200 210 220 230 240 RSGPNIYELR SYQLRPGTMI EWGNYWARAI RFRQDGNEAV GGFFSQIGQL YMVHHLWAYR 250 260 270 280 DLQTREDIRN AAWHKHGWEE LVYYTVPLIQ EMESRIMIPL KTSPLQ
	Isoform 2 [UniParc]. Checksum: E35362CADF3127B0	FASTA	247	29,053
	10 20 30 40 50 60 MAARVLRARG AAWAGGLLQR AAPCSLLPRL RTWTSSSNRS REDSWLKSLF VRKVDPRKDA 70 80 90 100 110 120 HSNLLAKKET SNLYKLQFKR CCQRFTKINT TLVLWWGLGT RGMASRTKLE FLEFRKARSD 130 140 150 160 170 180 MLLSRKNQLL LEFSFWNEPV PRSGPNIYEL RSYQLRPGTM IEWGNYWARA IRFRQDGNEA 190 200 210 220 230 240 VGGFFSQIGQ LYMVHHLWAY RDLQTREDIR NAAWHKHGWE ELVYYTVPLI QEMESRIMIP LKTSPLQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"GBAS, a novel gene encoding a protein with tyrosine phosphorylation sites and a transmembrane domain, is co-amplified with EGFR." Wang X.-Y., Smith D.I., Liu W., James C.D. Genomics 49:448-451(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family." Seroussi E., Pan H.Q., Kedra D., Roe B.A., Dumanski J.P. Gene 212:13-20(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"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 2). Tissue: Small intestine.
[5]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	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].
[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: Colon and Lung.
[9]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF029786 mRNA. Translation: AAC29002.1. AJ001259 mRNA. Translation: CAA04633.1. Frameshift. BT007112 mRNA. Translation: AAP35776.1. AK097049 mRNA. No translation available. CR407612 mRNA. Translation: CAG28540.1. AC092579 Genomic DNA. No translation available. CH471140 Genomic DNA. Translation: EAX07966.1. CH471140 Genomic DNA. Translation: EAX07967.1. BC000732 mRNA. Translation: AAH00732.1. BC001837 mRNA. Translation: AAH01837.1. BC030821 mRNA. Translation: AAH30821.1.
IPI	IPI00016077. IPI00925757.
RefSeq	NP_001189398.1. NM_001202469.1. NP_001474.1. NM_001483.2.
UniGene	Hs.591069.
3D structure databases
ProteinModelPortal	O75323.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75323. 34 interactions.
MINT	MINT-5003890.
STRING	9606.ENSP00000313050.
PTM databases
PhosphoSite	O75323.
2D gel databases
UCD-2DPAGE	O75323.
Proteomic databases
PaxDb	O75323.
PeptideAtlas	O75323.
PRIDE	O75323.
Protocols and materials databases
DNASU	2631.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000322090; ENSP00000313050; ENSG00000146729. ENST00000446778; ENSP00000406855; ENSG00000146729.
GeneID	2631.
KEGG	hsa:2631.
UCSC	uc003tre.2. human. uc003trf.2. human.
Organism-specific databases
CTD	2631.
GeneCards	GC07P056020.
HGNC	HGNC:4179. GBAS.
MIM	603004. gene.
neXtProt	NX_O75323.
PharmGKB	PA28593.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG09022.
HOGENOM	HOG000194298.
HOVERGEN	HBG052627.
InParanoid	O75323.
OMA	DIRNAAW.
PhylomeDB	O75323.
Gene expression databases
ArrayExpress	O75323.
Bgee	O75323.
CleanEx	HS_GBAS.
Genevestigator	O75323.
GermOnline	ENSG00000146729. Homo sapiens.
Family and domain databases
InterPro	IPR011008. Dimeric_a/b-barrel. IPR012577. NIPSNAP. [Graphical view]
Pfam	PF07978. NIPSNAP. 1 hit. [Graphical view]
SUPFAM	SSF54909. Dimer_A_B_barrel. 2 hits.
ProtoNet	Search...
Other
GenomeRNAi	2631.
NextBio	10372.
SOURCE	Search...

Entry information

Entry name

NIPS2_HUMAN

Accession

Primary (citable) accession number: O75323
Secondary accession number(s): C9IYJ3, O43801, Q53X96

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	November 1, 1998
Last modified:	May 29, 2013
This is version 105 of the entry and version 1 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.