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Q8NEA9 (GMCLL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified June 11, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Putative germ cell-less protein-like 1-like
Gene names
Name:GMCL1P1
Synonyms:GCL, GMCL1L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length526 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processDifferentiation
Spermatogenesis
Ubl conjugation pathway
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

multicellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

protein ubiquitination

Inferred from electronic annotation. Source: UniProtKB-UniPathway

spermatogenesis

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnuclear matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 16189514. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

GAGE2DQ9UEU52EBI-745707,EBI-751641

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 526526Putative germ cell-less protein-like 1-like
PRO_0000087523

Regions

Domain108 – 17871BTB
Motif49 – 557Nuclear localization signal Potential
Motif85 – 917Nuclear localization signal Potential

Natural variations

Natural variant2751V → A in a colorectal cancer sample; somatic mutation. Ref.4
VAR_035924

Experimental info

Sequence conflict471P → Q in BC024184. Ref.2
Sequence conflict2301K → E in BC024184. Ref.2
Sequence conflict2301K → E in BC024185. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q8NEA9 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: A5583195143E4782

FASTA52660,201
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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].
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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: FUNCTION AS AN E3 UBIQUITIN-PROTEIN LIGASE, INTERACTION WITH CUL3.
[4]"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. expand/collapse author list , 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] [Europe PMC] [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.
UniGeneHs.591738.

3D structure databases

ProteinModelPortalQ8NEA9.
SMRQ8NEA9. Positions 95-283.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8NEA9. 2 interactions.
MINTMINT-1453252.

PTM databases

PhosphoSiteQ8NEA9.

Polymorphism databases

DMDM47605713.

Proteomic databases

PRIDEQ8NEA9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Organism-specific databases

GeneCardsGC05M177611.
H-InvDBHIX0005475.
HGNCHGNC:19717. GMCL1P1.
HPAHPA039579.
neXtProtNX_Q8NEA9.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000232133.
HOVERGENHBG051741.
InParanoidQ8NEA9.
PhylomeDBQ8NEA9.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

CleanExHS_GMCL1L.
GenevestigatorQ8NEA9.

Family and domain databases

Gene3D3.30.710.10. 1 hit.
InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
[Graphical view]
PfamPF00651. BTB. 1 hit.
[Graphical view]
SMARTSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

PROQ8NEA9.

Entry information

Entry nameGMCLL_HUMAN
AccessionPrimary (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: June 11, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM