Q9H3C7 (GGNB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gametogenetin-binding protein 2

Alternative name(s):
Laryngeal carcinoma-related protein 1
Protein ZNF403

Gene names

Name:	GGNBP2
Synonyms:	LCRG1, LZK1, ZNF403

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

General annotation (Comments)

Function	May be involved in spermatogenesis.
Subunit structure	Interacts with GGN By similarity.
Subcellular location	Cytoplasmic vesicle By similarity. Note: Associated with vesicular structures By similarity.
Tissue specificity	Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed more abundantly in heart, pancreas and skeletal muscle. Ref.1
Miscellaneous	Strongly down-regulated in 40% of primary laryngeal carcinoma and in 6 of 10 various cancer cell lines.
Sequence caution	The sequence BAB15031.1 differs from that shown. Reason: Frameshift at position 387. The sequence BAB15397.1 differs from that shown. Reason: Erroneous initiation. The sequence CAC18878.1 differs from that shown. Reason: Frameshift at position 433.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis
Cellular component	Cytoplasmic vesicle
Coding sequence diversity	Alternative splicing
Molecular function	Developmental protein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasmic membrane-bounded vesicle Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q9H3C7-1)

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: Q9H3C7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     283-288: RRERHA → YEYVIC
     289-697: Missing.

Isoform 3 (identifier: Q9H3C7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     457-457: L → K
     458-697: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 697	697	Gametogenetin-binding protein 2		PRO_0000239348
Amino acid modifications
	Modified residue	360	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	283 – 288	6	RRERHA → YEYVIC in isoform 2.		VSP_019175
	Alternative sequence	289 – 697	409	Missing in isoform 2.		VSP_019176
	Alternative sequence	457	1	L → K in isoform 3.		VSP_019177
	Alternative sequence	458 – 697	240	Missing in isoform 3.		VSP_019178
Experimental info
	Sequence conflict	415	1	C → Y in BAB15031. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: FA57264D37BF7E5D	FASTA	697	79,086
	10 20 30 40 50 60 MARLVAVCRD GEEEFPFERR QIPLYIDDTL TMVMEFPDNV LNLDGHQNNG AQLKQFIQRH 70 80 90 100 110 120 GMLKQQDLSI AMVVTSREVL SALSQLVPCV GCRRSVERLF SQLVESGNPA LEPLTVGPKG 130 140 150 160 170 180 VLSVTRSCMT DAKKLYTLFY VHGSKLNDMI DAIPKSKKNK RCQLHSLDTH KPKPLGGCWM 190 200 210 220 230 240 DVWELMSQEC RDEVVLIDSS CLLETLETYL RKHRFCTDCK NKVLRAYNIL IGELDCSKEK 250 260 270 280 290 300 GYCAALYEGL RCCPHERHIH VCCETDFIAH LLGRAEPEFA GGRRERHAKT IDIAQEEVLT 310 320 330 340 350 360 CLGIHLYERL HRIWQKLRAE EQTWQMLFYL GVDALRKSFE MTVEKVQGIS RLEQLCEEFS 370 380 390 400 410 420 EEERVRELKQ EKKRQKRKNR RKNKCVCDIP TPLQTADEKE VSQEKETDFI ENSSCKACGS 430 440 450 460 470 480 TEDGNTCVEV IVTNENTSCT CPSSGNLLGS PKIKKGLSPH CNGSDCGYSS SMEGSETGSR 490 500 510 520 530 540 EGSDVACTEG ICNHDEHGDD SCVHHCEDKE DDGDSCVECW ANSEENDTKG KNKKKKKKSK 550 560 570 580 590 600 ILKCDEHIQK LGSCITDPGN RETSGNTMHT VFHRDKTKDT HPESCCSSEK GGQPLPWFEH 610 620 630 640 650 660 RKNVPQFAEP TETLFGPDSG KGAKSLVELL DESECTSDEE IFISQDEIQS FMANNQSFYS 670 680 690 NREQYRQHLK EKFNKYCRLN DHKRPICSGW LTTAGAN
	Isoform 2 [UniParc]. Checksum: 7925D6A6FE796730	FASTA	288	32,735
	10 20 30 40 50 60 MARLVAVCRD GEEEFPFERR QIPLYIDDTL TMVMEFPDNV LNLDGHQNNG AQLKQFIQRH 70 80 90 100 110 120 GMLKQQDLSI AMVVTSREVL SALSQLVPCV GCRRSVERLF SQLVESGNPA LEPLTVGPKG 130 140 150 160 170 180 VLSVTRSCMT DAKKLYTLFY VHGSKLNDMI DAIPKSKKNK RCQLHSLDTH KPKPLGGCWM 190 200 210 220 230 240 DVWELMSQEC RDEVVLIDSS CLLETLETYL RKHRFCTDCK NKVLRAYNIL IGELDCSKEK 250 260 270 280 GYCAALYEGL RCCPHERHIH VCCETDFIAH LLGRAEPEFA GGYEYVIC
	Isoform 3 [UniParc]. Checksum: 0FCC22CAD00378D1	FASTA	457	52,253
	10 20 30 40 50 60 MARLVAVCRD GEEEFPFERR QIPLYIDDTL TMVMEFPDNV LNLDGHQNNG AQLKQFIQRH 70 80 90 100 110 120 GMLKQQDLSI AMVVTSREVL SALSQLVPCV GCRRSVERLF SQLVESGNPA LEPLTVGPKG 130 140 150 160 170 180 VLSVTRSCMT DAKKLYTLFY VHGSKLNDMI DAIPKSKKNK RCQLHSLDTH KPKPLGGCWM 190 200 210 220 230 240 DVWELMSQEC RDEVVLIDSS CLLETLETYL RKHRFCTDCK NKVLRAYNIL IGELDCSKEK 250 260 270 280 290 300 GYCAALYEGL RCCPHERHIH VCCETDFIAH LLGRAEPEFA GGRRERHAKT IDIAQEEVLT 310 320 330 340 350 360 CLGIHLYERL HRIWQKLRAE EQTWQMLFYL GVDALRKSFE MTVEKVQGIS RLEQLCEEFS 370 380 390 400 410 420 EEERVRELKQ EKKRQKRKNR RKNKCVCDIP TPLQTADEKE VSQEKETDFI ENSSCKACGS 430 440 450 TEDGNTCVEV IVTNENTSCT CPSSGNLLGS PKIKKGK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of LCRG1 a novel gene localized to the tumor suppressor locus D17S800-D17S930." Li Y., Chen Z. Cancer Lett. 209:75-85(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[2]	"Cloning of a novel gene of a zinc finger protein." Li Z.K., Ling Z. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 351-697. Tissue: Small intestine.
[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 1).
[6]	"Differential gene expression in HTLV-1-infected adult T cell leukemia cell line." Ruckes T.M., Saul D., Romaker D., Grassmann R. Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 377-697.
[7]	"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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF268387 mRNA. Translation: AAK38614.1. AF126964 mRNA. Translation: AAG43247.1. AK024883 mRNA. Translation: BAB15031.1. Frameshift. AK026214 mRNA. Translation: BAB15397.1. Different initiation. CH471199 Genomic DNA. Translation: EAW57566.1. BC137491 mRNA. Translation: AAI37492.1. AJ404670 mRNA. Translation: CAC18878.1. Frameshift.
IPI	IPI00016284. IPI00759572. IPI00759598.
RefSeq	NP_079111.1. NM_024835.3.
UniGene	Hs.514116.
3D structure databases
ProteinModelPortal	Q9H3C7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000307617.
PTM databases
PhosphoSite	Q9H3C7.
Polymorphism databases
DMDM	74718217.
Proteomic databases
PaxDb	Q9H3C7.
PRIDE	Q9H3C7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000304718; ENSP00000307617; ENSG00000005955. ENST00000567775; ENSP00000455968; ENSG00000260508.
GeneID	79893.
KEGG	hsa:79893.
UCSC	uc002hna.3. human. uc002hnb.3. human.
Organism-specific databases
CTD	79893.
GeneCards	GC17P034900.
HGNC	HGNC:19357. GGNBP2.
HPA	HPA018914.
MIM	612275. gene.
neXtProt	NX_Q9H3C7.
PharmGKB	PA162389409.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG75335.
HOGENOM	HOG000264258.
HOVERGEN	HBG082524.
InParanoid	Q9H3C7.
OMA	QFIQRHS.
OrthoDB	EOG447FSP.
PhylomeDB	Q9H3C7.
Gene expression databases
ArrayExpress	Q9H3C7.
Bgee	Q9H3C7.
CleanEx	HS_GGNBP2.
Genevestigator	Q9H3C7.
GermOnline	ENSG00000005955. Homo sapiens.
Family and domain databases
InterPro	IPR026073. GGNBP2. [Graphical view]
PANTHER	PTHR13601. PTHR13601. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	GGNBP2. human.
GenomeRNAi	79893.
NextBio	69718.
SOURCE	Search...

Entry information

Entry name

GGNB2_HUMAN

Accession

Primary (citable) accession number: Q9H3C7
Secondary accession number(s): B2RPK7 , Q96T90, Q9GZR8, Q9H767

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 13, 2006
Last sequence update:	March 1, 2001
Last modified:	April 3, 2013
This is version 68 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.