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O60861 (GAS7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Growth arrest-specific protein 7

Short name=GAS-7
Gene names
Name:GAS7
Synonyms:KIAA0394
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length476 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Cytoplasm By similarity.

Involvement in disease

A chromosomal aberration involving GAS7 is found in acute myeloid leukemia. Translocation t(11;17)(q23;p13) with KMT2A/MLL1.

Sequence similarities

Contains 1 FCH domain.

Contains 1 SH3 domain.

Contains 1 WW domain.

Sequence caution

The sequence BAA23690.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 3 (identifier: O60861-3)

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 1 (identifier: O60861-1)

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: Missing.
Isoform 2 (identifier: O60861-2)

Also known as: GAS7-CB;

The sequence of this isoform differs from the canonical sequence as follows:
     1-140: Missing.
     141-156: PPETAHMSVRKSTGDS → MSNMENSFDDVSCLSP
Isoform 4 (identifier: O60861-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     61-61: E → M

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 476476Growth arrest-specific protein 7
PRO_0000076057

Regions

Domain1 – 6262SH3
Domain77 – 11034WW
Domain196 – 28893FCH
Coiled coil309 – 419111 Potential
Compositional bias67 – 704Poly-Pro

Amino acid modifications

Modified residue1171Phosphoserine Ref.10

Natural variations

Alternative sequence1 – 140140Missing in isoform 2.
VSP_006802
Alternative sequence1 – 6464Missing in isoform 1.
VSP_035988
Alternative sequence1 – 6060Missing in isoform 4.
VSP_044294
Alternative sequence611E → M in isoform 4.
VSP_044295
Alternative sequence141 – 15616PPETA…STGDS → MSNMENSFDDVSCLSP in isoform 2.
VSP_006803

Experimental info

Sequence conflict3011E → D in CAA12177. Ref.1

Secondary structure

.................... 476
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 3 [UniParc].

Last modified December 16, 2008. Version 3.
Checksum: 57BFB99907652745

FASTA47654,371
        10         20         30         40         50         60 
MSGARCRTLY PFSGERHGQG LRFAAGELIT LLQVPDGGWW EGEKEDGLRG WFPASYVQLL 

        70         80         90        100        110        120 
EKPGMVPPPP GEESQTVILP PGWQSYLSPQ GRRYYVNTTT NETTWERPSS SPGIPASPGS 

       130        140        150        160        170        180 
HRSSLPPTVN GYHASGTPAH PPETAHMSVR KSTGDSQNLG SSSPSKKQSK ENTITINCVT 

       190        200        210        220        230        240 
FPHPDTMPEQ QLLKPTEWSY CDYFWADKKD PQGNGTVAGF ELLLQKQLKG KQMQKEMSEF 

       250        260        270        280        290        300 
IRERIKIEED YAKNLAKLSQ NSLASQEEGS LGEAWAQVKK SLADEAEVHL KFSAKLHSEV 

       310        320        330        340        350        360 
EKPLMNFREN FKKDMKKCDH HIADLRKQLA SRYASVEKAR KALTERQRDL EMKTQQLEIK 

       370        380        390        400        410        420 
LSNKTEEDIK KARRKSTQAG DDLMRCVDLY NQAQSKWFEE MVTTTLELER LEVERVEMIR 

       430        440        450        460        470 
QHLCQYTQLR HETDMFNQST VEPVDQLLRK VDPAKDRELW VREHKTGNIR PVDMEI 

« Hide

Isoform 1 [UniParc].

Checksum: B65049D5F18254A7
Show »

FASTA41247,266
Isoform 2 (GAS7-CB) [UniParc].

Checksum: B57E482E417B5F39
Show »

FASTA33639,206
Isoform 4 [UniParc].

Checksum: 56CCB6E52CC680F5
Show »

FASTA41647,680

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
Tissue: Brain.
[3]Shan Y.X., Yu L.
Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[4]"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 (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"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] (ISOFORMS 2 AND 4).
Tissue: Thalamus and Trachea.
[6]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [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. expand/collapse author list , 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 (SEP-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: Eye and Skin.
[9]"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] [Europe PMC] [Abstract]
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH KMT2A/MLL1.
[10]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-117, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[11]"Solution structure of the WW domain from the human growth-arrest-specific protein 7, GAS-7."
RIKEN structural genomics initiative (RSGI)
Submitted (OCT-2007) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 79-111.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ224876 mRNA. Translation: CAA12177.1.
AB007854 mRNA. Translation: BAA23690.2. Different initiation.
AY327406 mRNA. Translation: AAP92798.1.
BT006891 mRNA. Translation: AAP35537.1.
AK292987 mRNA. Translation: BAF85676.1.
AK315162 mRNA. Translation: BAG37606.1.
AC000003 Genomic DNA. No translation available.
AC005747 Genomic DNA. No translation available.
AC026591 Genomic DNA. No translation available.
AC083783 Genomic DNA. No translation available.
AC107938 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW90013.1.
CH471108 Genomic DNA. Translation: EAW90011.1.
CH471108 Genomic DNA. Translation: EAW90012.1.
BC001152 mRNA. Translation: AAH01152.1.
BC006454 mRNA. Translation: AAH06454.2.
AF231998 mRNA. Translation: AAG26332.2. Sequence problems.
RefSeqNP_001124303.1. NM_001130831.1.
NP_003635.2. NM_003644.2.
NP_958836.1. NM_201432.1.
NP_958839.1. NM_201433.1.
XP_005256888.1. XM_005256831.2.
XP_005256889.1. XM_005256832.2.
UniGeneHs.462214.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2LX7NMR-A1-60[»]
2YSHNMR-A79-111[»]
ProteinModelPortalO60861.
SMRO60861. Positions 1-131, 199-476.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114094. 21 interactions.
IntActO60861. 12 interactions.
MINTMINT-1577125.
STRING9606.ENSP00000322608.

PTM databases

PhosphoSiteO60861.

Proteomic databases

PaxDbO60861.
PRIDEO60861.

Protocols and materials databases

DNASU8522.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000323816; ENSP00000322608; ENSG00000007237. [O60861-4]
ENST00000432992; ENSP00000407552; ENSG00000007237. [O60861-3]
ENST00000437099; ENSP00000410108; ENSG00000007237. [O60861-1]
ENST00000542249; ENSP00000443265; ENSG00000007237. [O60861-1]
ENST00000579158; ENSP00000463527; ENSG00000007237. [O60861-1]
ENST00000580865; ENSP00000463873; ENSG00000007237. [O60861-2]
ENST00000585266; ENSP00000464240; ENSG00000007237. [O60861-4]
GeneID8522.
KEGGhsa:8522.
UCSCuc002gmg.1. human. [O60861-3]
uc002gmh.1. human. [O60861-2]
uc002gmj.1. human. [O60861-4]

Organism-specific databases

CTD8522.
GeneCardsGC17M009813.
HGNCHGNC:4169. GAS7.
HPAHPA004838.
MIM603127. gene.
neXtProtNX_O60861.
PharmGKBPA28583.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG271795.
HOGENOMHOG000294146.
HOVERGENHBG001320.
InParanoidO60861.
OMAHMSLRKP.
OrthoDBEOG7SN8CQ.
PhylomeDBO60861.
TreeFamTF328986.

Enzyme and pathway databases

SignaLinkO60861.

Gene expression databases

ArrayExpressO60861.
BgeeO60861.
CleanExHS_GAS7.
GenevestigatorO60861.

Family and domain databases

InterProIPR001060. FCH_dom.
IPR001452. SH3_domain.
IPR001202. WW_dom.
[Graphical view]
PfamPF00611. FCH. 1 hit.
PF00397. WW. 1 hit.
[Graphical view]
SMARTSM00055. FCH. 1 hit.
SM00326. SH3. 1 hit.
SM00456. WW. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
SSF51045. SSF51045. 1 hit.
PROSITEPS50133. FCH. 1 hit.
PS50002. SH3. 1 hit.
PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGAS7. human.
EvolutionaryTraceO60861.
GeneWikiGAS7.
GenomeRNAi8522.
NextBio31908.
PROO60861.
SOURCESearch...

Entry information

Entry nameGAS7_HUMAN
AccessionPrimary (citable) accession number: O60861
Secondary accession number(s): A8KAC2 expand/collapse secondary AC list , B2RCK9, O43144, Q53Y77, Q7Z571
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: December 16, 2008
Last modified: April 16, 2014
This is version 133 of the entry and version 3 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human chromosome 17

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