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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	412 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	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 process	Differentiation Neurogenesis
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Proto-oncogene
Domain	Coiled coil
Molecular function	Developmental protein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	cell 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 component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	protein 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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 412

412

Growth arrest-specific protein 7

PRO_0000076057

Regions

Domain

13 – 46

34

WW

Domain

132 – 224

93

FCH

Coiled coil

245 – 319

75

Potential

Natural variations

Alternative sequence

1 – 76

76

Missing in isoform 2.

VSP_006802

Alternative sequence

77 – 92

16

PPETA…STGDS → MSNMENSFDDVSCLSP in isoform 2.

VSP_006803

Experimental info

Sequence conflict

237

1

E → D in CAA12177. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

412

Helix Strand Turn

Details...

Beta strand

20 – 23

4

Beta strand

29 – 32

4

Beta strand

34 – 36

3

Beta strand

39 – 43

5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2001. Version 2. 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) [UniParc]. Checksum: B57E482E417B5F39		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]	"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.

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.
BC001152 mRNA. Translation: AAH01152.1.
BC006454 mRNA. Translation: AAH06454.2. Different initiation.
AF231998 mRNA. Translation: AAG26332.2. Sequence problems.

RefSeq

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

UniGene

Hs.258855
Hs.462214

3D structure databases

PDBMSD

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2YSH	NMR	-	A	15-47	[»]

ModBase

Search...

PTM databases

PhosphoSite

O60861.

Genome annotation databases

Ensembl

ENSG00000007237. Homo sapiens. [Contig view]

GeneID

8522.

KEGG

hsa:8522.

Organism-specific databases

H-InvDB

HIX0013533.

HGNC

HGNC:4169. GAS7.

MIM

603127. gene.

PharmGKB

PA28583.

HUGE

Search...

GenAtlas

Search...

GeneCards

Search...

Phylogenomic databases

HOVERGEN

O60861.

Gene expression databases

ArrayExpress

O60861.

CleanEx

HS_GAS7.

GermOnline

ENSG00000007237. Homo sapiens.

Family and domain databases

InterPro

IPR001060. Cdc15_Fes_CIP4.
IPR001202. WW_Rsp5_WWP.
[Graphical view]

Pfam

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

SMART

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

PROSITE

PS50133. FCH. 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): 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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)