• Gene id: 79981

Gene Summary

• Gene Symbol: FRMD1   Gene   UCSC   Ensembl
• Aliases: bA164L23.1
• Gene name: FERM domain containing 1
• Alternate names: FERM domain-containing protein 1,
• Gene location: 6q27 (74666891: 74621395)     Exons: 18     NC_000016.10

Protein Summary

• Protein general information: Q8N878  
  • Name: FERM domain containing protein 1
  • Length: 549  
  • Mass: 62523
• Sequence:

  MAVPPRGRGIDPARTNPDTFPPSGARCMEPSPERPACSQQEPTLGMDAMASEHRDVLVLLPSREQLRLAVGVKAT
  GRELFQQVCNVASIRDAQFFGLCVVRNNEYIFMDLEQKLSKYFSKDWKKERNEGNEKPRAPFVAFLRVQHYVENG
  RVISDHRARHLYYCHLKERVLRSQCAHREEAYFLLAACALQADLGEHRESAHAGRYFEPHSYFPQWIITKRGIDY
  ILRHMPTLHRERQGLSPKEAMLCFIQEACRLEDVPVHFFRLHKDKKEGRPTVILGLALRGVHIYQGKKLEIQLDG
  LPAAQKLVYYTGCTWRSRHLLHLLRASHQLHLRVRPTLQQLRQREEAEEKQHYRESYISDELELDLASRSFPGSG
  VSSQHCPHCLSRHSADSHGSSYTSGIKANSWLRESREMSVDVPLEVHGLHEKEPSSSPRTSRSHPSTRGDSQATR
  QEPCTQVRTRGQSAEAVHQIQEMTAGVSEEQHSHGLDDMQLHQLALHPAPTSLSHTFHRALDCRLAGPCETRATL
  PSKRSSNCLALDLFGEAPPQEFVV

• Structural information:
  • Protein Domains: (54..36-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR019749  IPR014352  IPR035963  IPR019748  IPR000299   IPR018979  IPR018980  IPR029071  
  • Prosite: PS50057
  • CDD: cd14473
  • STRING: ENSP00000283309
• Other Databases: GeneCards:  FRMD1  Malacards:  FRMD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035332	positive regulation of hippo signaling	IBA	biological process
GO:0005911	cell-cell junction	IBA	cellular component
GO:0098592	cytoplasmic side of apical plasma membrane	IBA	cellular component
GO:0033613	activating transcription factor binding	IBA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04390	Hippo signaling pathway
hsa04392	Hippo signaling pathway - multiple species

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq