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Reviewed, UniProtKB/Swiss-Prot O60861 (GAS7_HUMAN)

Last modified November 25, 2008. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Growth arrest-specific protein 7
      Short name=GAS-7
Gene names
Name: GAS7
Synonyms: KIAA0394
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length412 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

May play a role in promoting maturation and morphological differentiation of cerebellar neurons.

Subcellular location

CytoplasmBy similarity.

Involvement in disease

A chromosomal aberration involving GAS7 is a cause of acute myeloid leukemia. Translocation t(11;17)(q23;p13) with MLL/HRX.

Sequence similarities

Contains 1 FCH domain.

Contains 1 WW domain.

Ontologies

Keywords

   Biological processDifferentiation
Neurogenesis
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
   DiseaseProto-oncogene
   DomainCoiled coil
   Molecular functionDevelopmental protein
   Technical term3D-structure

Gene Ontology (GO)

   Biological processcell cycle arrest

Traceable author statement. Source: ProtInc

cell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

nervous system development

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functionprotein binding

Inferred from electronic annotation. Source: InterPro

transcription factor activity

Traceable author statement. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60861-1)

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: O60861-2)

Also known as: GAS7-CB;

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: Missing.
     77-92: PPETAHMSVRKSTGDS → MSNMENSFDDVSCLSP

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 412412Growth arrest-specific protein 7
PRO_0000076057

Regions

Domain13 – 4634WW
Domain132 – 22493FCH
Coiled coil245 – 31975 Potential

Natural variations

Alternative sequence1 – 7676Missing in isoform 2.
VSP_006802
Alternative sequence77 – 9216PPETA…STGDS → MSNMENSFDDVSCLSP in isoform 2.
VSP_006803

Experimental info

Sequence conflict2371E → D in CAA12177. Ref.1

Secondary structure

......... 412
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2001. Version 2.
Checksum: B65049D5F18254A7

FASTA41247,266
        10         20         30         40         50         60 
MVPPPPGEES QTVILPPGWQ SYLSPQGRRY YVNTTTNETT WERPSSSPGI PASPGSHRSS 

        70         80         90        100        110        120 
LPPTVNGYHA SGTPAHPPET AHMSVRKSTG DSQNLGSSSP SKKQSKENTI TINCVTFPHP 

       130        140        150        160        170        180 
DTMPEQQLLK PTEWSYCDYF WADKKDPQGN GTVAGFELLL QKQLKGKQMQ KEMSEFIRER 

       190        200        210        220        230        240 
IKIEEDYAKN LAKLSQNSLA SQEEGSLGEA WAQVKKSLAD EAEVHLKFSA KLHSEVEKPL 

       250        260        270        280        290        300 
MNFRENFKKD MKKCDHHIAD LRKQLASRYA SVEKARKALT ERQRDLEMKT QQLEIKLSNK 

       310        320        330        340        350        360 
TEEDIKKARR KSTQAGDDLM RCVDLYNQAQ SKWFEEMVTT TLELERLEVE RVEMIRQHLC 

       370        380        390        400        410 
QYTQLRHETD MFNQSTVEPV DQLLRKVDPA KDRELWVREH KTGNIRPVDM EI 

« Hide

Isoform 2 (GAS7-CB) [UniParc].

Checksum: B57E482E417B5F39
Show »

33639,206

References

« Hide 'large scale' references
[1]"Human gas7: conservation of a mammalian growth-arrest-specific gene."
Chao C.C.-K., Kuo J.T., Ju Y.-T., Lin-Chao S.
Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Cerebellum.
[2]"Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 4:307-313(1997) [PubMed: 9455477] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[3]"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] (ISOFORM 1).
Tissue: Eye and Skin.
[4]"Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors."
Megonigal M.D., Cheung N.-K.V., Rappaport E.F., Nowell P.C., Wilson R.B., Jones D.H., Addya K., Leonard D.G.B., Kushner B.H., Williams T.M., Lange B.J., Felix C.A.
Proc. Natl. Acad. Sci. U.S.A. 97:2814-2819(2000) [PubMed: 10706619] [Abstract]
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH MLL.
+Additional computationally mapped references.

Cross-references

Sequence databases

AJ224876 mRNA. Translation: CAA12177.1.
AB007854 mRNA. Translation: BAA23690.2. Different initiation.
BC001152 mRNA. Translation: AAH01152.1.
BC006454 mRNA. Translation: AAH06454.2. Different initiation.
AF231998 mRNA. Translation: AAG26332.2. Sequence problems.
RefSeqNP_001124303.1.
NP_003635.2.
NP_958836.1.
UniGeneHs.258855
Hs.462214

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
2YSHNMR-A15-47[»]
ModBaseSearch...

PTM databases

PhosphoSiteO60861.

Genome annotation databases

EnsemblENSG00000007237. Homo sapiens. [Contig view]
GeneID8522.
KEGGhsa:8522.

Organism-specific databases

H-InvDBHIX0013533.
HGNCHGNC:4169. GAS7.
MIM603127. gene.
PharmGKBPA28583.
HUGESearch...
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENO60861.

Gene expression databases

ArrayExpressO60861.
CleanExHS_GAS7.
GermOnlineENSG00000007237. Homo sapiens.

Family and domain databases

InterProIPR001060. Cdc15_Fes_CIP4.
IPR001202. WW_Rsp5_WWP.
[Graphical view]
PfamPF00611. FCH. 1 hit.
PF00397. WW. 1 hit.
[Graphical view]
SMARTSM00055. FCH. 1 hit.
SM00456. WW. 1 hit.
[Graphical view]
PROSITEPS50133. FCH. 1 hit.
PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio31908.
SOURCESearch...

Entry information

Entry nameGAS7_HUMAN
AccessionPrimary (citable) accession number: O60861
Secondary accession number(s): O43144
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: January 11, 2001
Last modified: November 25, 2008
This is version 77 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents