Reviewed, UniProtKB/Swiss-Prot O60861 (GAS7_HUMAN)

Names and origin

Protein names

Recommended name:
    Growth arrest-specific protein 7
      Short name=GAS-7

Gene names

Name:	GAS7
Synonyms:	KIAA0394

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	476 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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 a cause of acute myeloid leukemia. Translocation t(11;17)(q23;p13) with MLL/HRX.
Sequence similarities	Contains 1 FCH domain. Contains 1 SH3 domain. Contains 1 WW domain.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Proto-oncogene
Domain	Coiled coil SH3 domain
Molecular function	Developmental protein
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	cell cycle arrest Traceable author statement. Source: ProtInc
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	transcription factor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 3 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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 476

476

Growth arrest-specific protein 7

PRO_0000076057

Regions

Domain

1 – 62

62

SH3

Domain

77 – 110

34

WW

Domain

196 – 288

93

FCH

Coiled coil

309 – 419

111

Potential

Compositional bias

67 – 70

4

Poly-Pro

Amino acid modifications

Modified residue

117

1

Phosphoserine

Natural variations

Alternative sequence

1 – 140

140

Missing in isoform 2.

VSP_006802

Alternative sequence

1 – 64

64

Missing in isoform 1.

VSP_035988

Alternative sequence

141 – 156

16

PPETA…STGDS → MSNMENSFDDVSCLSP in isoform 2.

VSP_006803

Experimental info

Sequence conflict

301

1

E → D in CAA12177. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

476

Helix Strand Turn

Details...

Beta strand

84 – 87

4

Beta strand

93 – 96

4

Beta strand

98 – 100

3

Beta strand

103 – 107

5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 3 [UniParc]. Last modified December 16, 2008. Version 3. Checksum: 57BFB99907652745	FASTA	476	54,371
	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
	Isoform 1. Checksum: B65049D5F18254A7	FASTA	412	47,266
	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
	Isoform 2 (GAS7-CB). Checksum: B57E482E417B5F39	FASTA	336	39,206
	10 20 30 40 50 60 MSNMENSFDD VSCLSPQNLG SSSPSKKQSK ENTITINCVT FPHPDTMPEQ QLLKPTEWSY 70 80 90 100 110 120 CDYFWADKKD PQGNGTVAGF ELLLQKQLKG KQMQKEMSEF IRERIKIEED YAKNLAKLSQ 130 140 150 160 170 180 NSLASQEEGS LGEAWAQVKK SLADEAEVHL KFSAKLHSEV EKPLMNFREN FKKDMKKCDH 190 200 210 220 230 240 HIADLRKQLA SRYASVEKAR KALTERQRDL EMKTQQLEIK LSNKTEEDIK KARRKSTQAG 250 260 270 280 290 300 DDLMRCVDLY NQAQSKWFEE MVTTTLELER LEVERVEMIR QHLCQYTQLR HETDMFNQST 310 320 330 VEPVDQLLRK VDPAKDRELW VREHKTGNIR PVDMEI

References

	« Hide 'large scale' referencesShow '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]	Shan Y.X., Yu L. Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[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. , 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] (ISOFORM 2). Tissue: Thalamus.
[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. , 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: 16625196] [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. , 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: 15489334] [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: 10706619] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH MLL.
[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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-117, MASS SPECTROMETRY. Tissue: 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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases

EMBLGenBankDDBJ

AJ224876 mRNA. Translation: CAA12177.1.
AB007854 mRNA. Translation: BAA23690.2. Different initiation.
AY327406 mRNA. Translation: AAP92798.1.
BT006891 mRNA. Translation: AAP35537.1.
AK315162 mRNA. Translation: BAG37606.1.
AC005747 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. Different initiation.
AF231998 mRNA. Translation: AAG26332.2. Sequence problems.

IPI

IPI00032371.
IPI00216089.
IPI00398632.

RefSeq

NP_001124303.1.
NP_003635.2.
NP_958836.1.
NP_958839.1.

UniGene

Hs.258855
Hs.462214

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2YSH	NMR	-	A	79-111	[»]

ModBase

Search...

Protein-protein interaction databases

STRING

O60861.

PTM databases

PhosphoSite

O60861.

Proteomic databases

PRIDE

O60861.

Genome annotation databases

Ensembl

ENST00000323816; ENSP00000322608; ENSG00000007237; Homo sapiens. [Genome view]

GeneID

8522.

KEGG

hsa:8522.

UCSC

uc002gmh.1. human.
uc002gmi.1. human.

Organism-specific databases

CTD

8522.

GeneCards

GC17M009754.

H-InvDB

HIX0013533.

HGNC

HGNC:4169. GAS7.

MIM

603127. gene.

PharmGKB

PA28583.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

O60861.

OMA

HMSLRKS

OrthoDB

EOG96T5MF

Gene expression databases

ArrayExpress

O60861.

Bgee

O60861.

CleanEx

HS_GAS7.

Genevestigator

O60861.

GermOnline

ENSG00000007237. Homo sapiens.

Family and domain databases

InterPro

IPR001060. FCH.
IPR001452. SH3_domain.
IPR001202. WW_Rsp5_WWP.
[Graphical view]

Pfam

PF00611. FCH. 1 hit.
PF00018. SH3_1. 1 hit.
PF00397. WW. 1 hit.
[Graphical view]

SMART

SM00055. FCH. 1 hit.
SM00326. SH3. 1 hit.
SM00456. WW. 1 hit.
[Graphical view]

PROSITE

PS50133. FCH. 1 hit.
PS50002. SH3. 1 hit.
PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

31908.

SOURCE

Search...

Entry information

Entry name

GAS7_HUMAN

Accession

Primary (citable) accession number: O60861
Secondary accession number(s): B2RCK9 , O43144, Q53Y77, Q7Z571

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	December 16, 2008
Last modified:	November 24, 2009
This is version 89 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.