Q8NEA9 (GMCLL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Putative germ cell-less protein-like 1-like

Gene names

Name:	GMCL1P1
Synonyms:	GCL, GMCL1L

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

General annotation (Comments)

Function	Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport By similarity. Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Ref.3
Pathway	Protein modification; protein ubiquitination.
Subunit structure	Interacts with TMPO-Beta, TSG101 and TFDP2. Interacts with EMD By similarity. Interacts with CUL3. Ref.3
Subcellular location	Nucleus matrix By similarity.
Sequence similarities	Contains 1 BTB (POZ) domain.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis Ubl conjugation pathway
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
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	nuclear matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
GAGE8	Q9UEU5	2	EBI-745707,EBI-751641

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 526	526	Putative germ cell-less protein-like 1-like		PRO_0000087523
Regions
	Domain	108 – 178	71	BTB
	Motif	49 – 55	7	Nuclear localization signal Potential
	Motif	85 – 91	7	Nuclear localization signal Potential
Amino acid modifications
	Modified residue	424	1	Phosphotyrosine Ref.4
Natural variations
	Natural variant	275	1	V → A in a colorectal cancer sample; somatic mutation. Ref.5		VAR_035924
Experimental info
	Sequence conflict	47	1	P → Q in BC024184. Ref.2
	Sequence conflict	230	1	K → E in BC024184. Ref.2
	Sequence conflict	230	1	K → E in BC024185. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8NEA9 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: A5583195143E4782	FASTA	526	60,201
	10 20 30 40 50 60 MGSSSSRVLG QPRRALAQQE QGARARGSAR RPDTGDDAAS YGFCYCPGSH KRKRSSGACR 70 80 90 100 110 120 YCDPDSHREE HEEEGDKQQP LLNTPARKKL RSTSKYIYQT LFLNGENSDI KICALGEEWR 130 140 150 160 170 180 LHKIYLCQSG YFSSMFSGSW KESSMNIIEL EIPDQNIDVD ALQVAFGSLY RDDVLIKPSR 190 200 210 220 230 240 VVAILAAACM LQLDGLIQQC GETMKETINV KTVCGYYTSV EIYGLDSVKK KCLEWLLNNL 250 260 270 280 290 300 MTHQNVKLFK ELGINVMKQL IGSSNLFVMQ VEMDVYTTLK KWMFLQLVPS WNGSLKQLLT 310 320 330 340 350 360 ETDVWFSKQR KDFEGMAFLE TEPGKPFVSV FRHLRLQYII SDLASARIIE QDGIVPSEWL 370 380 390 400 410 420 SSVYKQQWFA MLRAEQDHEV GPQEINKEDL EGSSMRCGRK LAKDGEYYWC WTGFNFGFDL 430 440 450 460 470 480 LVIYTNGYII FKRNTLNQPC SGSVSLRPRR SIAFRLRLAS FDSSGKLVCS RTTGYQILIL 490 500 510 520 KKDQEQVVMN LDSRFLTFPL YICCNFLYIS PEKGIENNRH PEDPEN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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]. Tissue: Testis.
[2]	"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]. Tissue: Testis.
[3]	"Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases." Furukawa M., He Y.J., Borchers C., Xiong Y. Nat. Cell Biol. 5:1001-1007(2003) [PubMed: 14528312] [Abstract] Cited for: FUNCTION AS A E3 UBIQUITIN-PROTEIN LIGASE, INTERACTION WITH CUL3.
[4]	"Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry." Tao W.A., Wollscheid B., O'Brien R., Eng J.K., Li X.-J., Bodenmiller B., Watts J.D., Hood L., Aebersold R. Nat. Methods 2:591-598(2005) [PubMed: 16094384] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-424, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[5]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-275.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK315701 mRNA. Translation: BAG38063.1. BC024184 mRNA. No translation available. BC024185 mRNA. No translation available. BC033886 mRNA. No translation available.
IPI	IPI00252570.
UniGene	Hs.591738.
3D structure databases
ProteinModelPortal	Q8NEA9.
SMR	Q8NEA9. Positions 98-207.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NEA9. 2 interactions.
MINT	MINT-1453252.
STRING	Q8NEA9.
PTM databases
PhosphoSite	Q8NEA9.
Polymorphism databases
DMDM	47605713.
Proteomic databases
PRIDE	Q8NEA9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000282570; ENSP00000282570; ENSG00000087338.
Organism-specific databases
H-InvDB	HIX0005475. HIX0184142.
HGNC	HGNC:19717. GMCL1P1.
HPA	HPA039579.
neXtProt	NX_Q8NEA9.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18967.
HOGENOM	HBG715502.
HOVERGEN	HBG051741.
InParanoid	Q8NEA9.
Gene expression databases
ArrayExpress	Q8NEA9.
Bgee	Q8NEA9.
CleanEx	HS_GMCL1L.
Genevestigator	Q8NEA9.
GermOnline	ENSG00000185005. Homo sapiens.
Family and domain databases
InterPro	IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. [Graphical view]
Gene3D	G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit.
Pfam	PF00651. BTB. 1 hit. [Graphical view]
SMART	SM00225. BTB. 1 hit. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

GMCLL_HUMAN

Accession

Primary (citable) accession number: Q8NEA9
Secondary accession number(s): B2RDW6, Q8TC88, Q8TC89

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 24, 2004
Last sequence update:	October 1, 2002
Last modified:	January 25, 2012
This is version 74 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.