EML1

Protein-coding gene in the species Homo sapiens
EML1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4CI8

Identifiers
AliasesEML1, ELP79, EMAP, EMAPL, HuEMAP, echinoderm microtubule associated protein like 1, BH, EMAP like 1, EMAP-1
External IDsOMIM: 602033; MGI: 1915769; HomoloGene: 20931; GeneCards: EML1; OMA:EML1 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for EML1
Genomic location for EML1
Band14q32.2Start99,737,693 bp[1]
End99,942,060 bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for EML1
Genomic location for EML1
Band12 F1|12 59.46 cMStart108,370,957 bp[2]
End108,539,617 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • gastric mucosa

  • synovial joint

  • epithelium of colon

  • ventricular zone

  • muscle layer of sigmoid colon

  • Achilles tendon

  • right lung

  • amniotic fluid

  • stromal cell of endometrium
Top expressed in
  • interventricular septum

  • superior cervical ganglion

  • muscle of thigh

  • spinal ganglia

  • lumbar spinal ganglion

  • neural tube

  • knee joint

  • neural layer of retina

  • ventricular zone

  • skeletal muscle tissue
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • tubulin binding
  • calcium ion binding
  • protein binding
  • microtubule binding
Cellular component
  • cytoplasm
  • perinuclear region of cytoplasm
  • mitotic spindle midzone
  • cytosol
  • mitotic spindle pole
  • microtubule
  • cytoskeleton
  • microtubule associated complex
  • microtubule cytoskeleton
  • mitotic spindle
Biological process
  • neuroblast proliferation
  • mitotic spindle organization
  • brain development
  • hematopoietic progenitor cell differentiation
  • microtubule cytoskeleton organization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2009

68519

Ensembl

ENSG00000066629

ENSMUSG00000058070

UniProt

O00423

Q05BC3

RefSeq (mRNA)

NM_001008707
NM_004434
NM_001375411
NM_001375412

NM_001043335
NM_001043336
NM_001286346
NM_001286347

RefSeq (protein)

NP_001008707
NP_004425
NP_001362340
NP_001362341

NP_001036800
NP_001036801
NP_001273275
NP_001273276
NP_001351122

NP_001351123
NP_001351124
NP_001351125
NP_001351126
NP_001351127
NP_001351128

Location (UCSC)Chr 14: 99.74 – 99.94 MbChr 12: 108.37 – 108.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Echinoderm microtubule-associated protein-like 1 is a protein that in humans is encoded by the EML1 gene.[5][6][7]

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 variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are categorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000066629 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058070 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Eudy JD, Ma-Edmonds M, Yao SF, Talmadge CB, Kelley PM, Weston MD, Kimberling WJ, Sumegi J (Sep 1997). "Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32". Genomics. 43 (1): 104–6. doi:10.1006/geno.1997.4779. PMID 9226380.
  6. ^ Lepley DM, Palange JM, Suprenant KA (Nov 1999). "Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2)". Gene. 237 (2): 343–9. doi:10.1016/S0378-1119(99)00335-2. PMID 10521658.
  7. ^ a b "Entrez Gene: EML1 echinoderm microtubule associated protein like 1".

Further reading

  • Kaplan J, Gerber S, Bonneau D, et al. (1993). "A gene for Usher syndrome type I (USH1A) maps to chromosome 14q". Genomics. 14 (4): 979–87. doi:10.1016/S0888-7543(05)80120-X. PMID 1478676.
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
  • Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
  • Schaefer GB, Bodensteiner JB, Thompson JN, et al. (1999). "Volumetric neuroimaging in Usher syndrome: evidence of global involvement". Am. J. Med. Genet. 79 (1): 1–4. doi:10.1002/(SICI)1096-8628(19980827)79:1<1::AID-AJMG1>3.0.CO;2-T. PMID 9738858.
  • Ly CD, Roche KW, Lee HK, Wenthold RJ (2002). "Identification of rat EMAP, a delta-glutamate receptor binding protein". Biochem. Biophys. Res. Commun. 291 (1): 85–90. doi:10.1006/bbrc.2002.6413. PMID 11829466.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  • v
  • t
  • e
Echinoderm microtubule-associated protein-like proteins
  • EML1
  • EML2
  • EML3
  • EML4
  • EML5
  • EML6


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