• Gene id: 8522

Gene Summary

• Gene Symbol: GAS7   Gene   UCSC   Ensembl
• Gene name: growth arrest specific 7
• Alternate names: growth arrest-specific protein 7,
• Gene location: 17p13.1 (10198605: 9910605)     Exons: 21     NC_000017.11
• Gene summary(Entrez): Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary
• OMIM: 603127

Protein Summary

• Protein general information: O60861  
  • Name: Growth arrest specific protein 7 (GAS 7)
  • Length: 476  
  • Mass: 54371
• Sequence:

  MSGARCRTLYPFSGERHGQGLRFAAGELITLLQVPDGGWWEGEKEDGLRGWFPASYVQLLEKPGMVPPPPGEESQ
  TVILPPGWQSYLSPQGRRYYVNTTTNETTWERPSSSPGIPASPGSHRSSLPPTVNGYHASGTPAHPPETAHMSVR
  KSTGDSQNLGSSSPSKKQSKENTITINCVTFPHPDTMPEQQLLKPTEWSYCDYFWADKKDPQGNGTVAGFELLLQ
  KQLKGKQMQKEMSEFIRERIKIEEDYAKNLAKLSQNSLASQEEGSLGEAWAQVKKSLADEAEVHLKFSAKLHSEV
  EKPLMNFRENFKKDMKKCDHHIADLRKQLASRYASVEKARKALTERQRDLEMKTQQLEIKLSNKTEEDIKKARRK
  STQAGDDLMRCVDLYNQAQSKWFEEMVTTTLELERLEVERVEMIRQHLCQYTQLRHETDMFNQSTVEPVDQLLRK
  VDPAKDRELWVREHKTGNIRPVDMEI

• Structural information:
  • Protein Domains: (1..6-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (77..11-)
    (/note="WW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (196..45-)
    (/note="F-BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01077"-)
  • Interpro: IPR027267  IPR031160  IPR001060  IPR037957  IPR036028   IPR001452  IPR001202  IPR036020  
  • Prosite: PS51741 PS50002 PS01159 PS50020
  • CDD: cd07649
  • PDB: 2LX7 2YSH
  • PDBsum: 2LX7 2YSH
  • STRING: ENSP00000407552
• Other Databases: GeneCards:  GAS7  Malacards:  GAS7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008092	cytoskeletal protein binding	IBA	molecular function
GO:0048812	neuron projection morphogenesis	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray