• Gene id: 2009

Gene Summary

• Gene Symbol: EML1   Gene   UCSC   Ensembl
• Aliases: BH, ELP79, EMAP, EMAP-1, EMAPL
• Gene name: EMAP like 1
• Alternate names: echinoderm microtubule-associated protein-like 1, echinoderm microtubule associated protein like 1,
• Gene location: 14q32.2 (99737721: 99942059)     Exons: 27     NC_000014.9
• Gene summary(Entrez): Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of
• OMIM: 601192

Protein Summary

• Protein general information: O00423  
  • Name: Echinoderm microtubule associated protein like 1 (EMAP 1) (HuEMAP 1)
  • Length: 815  
  • Mass: 89861
  • Tissue specificity: Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes. {ECO
• Sequence:

  MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAV
  LNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKSNIKRTSSSERVSPGGRRESNGD
  SRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEW
  VYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQ
  LPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQKEEKLADVKCSNEAVF
  AADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNR
  ISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIGTTRNF
  VLQGTLSGDFTPITQGHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVA
  VGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGRKYTRVGKCSGHSSFI
  THLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATYTCTLGFHVFGVWPEGSDGTDINAVCRAHE
  KKLLSTGDDFGKVHLFSYPCSQFRAPSHIYGGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI

• Structural information:
  • Interpro: IPR005108  IPR011047  IPR015943  IPR001680  IPR017986   IPR036322  
  • Prosite: PS50082 PS50294
  • PDB: 4CI8
  • PDBsum: 4CI8
  • STRING: ENSP00000334314
• Other Databases: GeneCards:  EML1  Malacards:  EML1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008017	microtubule binding	IBA	molecular function
GO:0072686	mitotic spindle	IBA	colocalizes with
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0015631	tubulin binding	IDA	molecular function
GO:0015630	microtubule cytoskeleton	IDA	colocalizes with
GO:1990023	mitotic spindle midzone	ISS	colocalizes with
GO:0097431	mitotic spindle pole	ISS	colocalizes with
GO:0005829	cytosol	ISS	cellular component
GO:0008017	microtubule binding	ISS	molecular function
GO:0007405	neuroblast proliferation	ISS	biological process
GO:0007052	mitotic spindle organization	ISS	biological process
GO:0007420	brain development	ISS	biological process
GO:0000226	microtubule cytoskeleton organization	ISS	biological process
GO:0007420	brain development	IMP	biological process
GO:0008017	microtubule binding	IMP	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005875	microtubule associated complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0007052	mitotic spindle organization	IEA	biological process
GO:0007405	neuroblast proliferation	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0097431	mitotic spindle pole	IEA	cellular component
GO:1990023	mitotic spindle midzone	IEA	cellular component
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005509	calcium ion binding	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881