ESCO1 - establishment of sister chromatid cohesion N-acetyltransferase 1 Gene

Also Known as CTF; ECO1; EFO1; ESO1; A930014I12Rik

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 114799

About ESCO1

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:21,529,284-21,600,704 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and 5 paralogues. Broad expression in testis (RPKM 14.5), bone marrow (RPKM 6.3) and 25 other tissues.

Summary

ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]

ESCO1 Products (1)

mRNA Protein Name
NM_052911.3 NP_443143.2 N-acetyltransferase ESCO1

ESCO1 Protein Structure

zf-C2H2_3

zf-C2H2_3: zinc-finger of acetyl-transferase ESCO (604 - 644)

Acetyltransf_13

Acetyltransf_13: ESCO1/2 acetyl-transferase (762 - 831)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 840 a.a.
Protein Preferred Names Protein Names

N-acetyltransferase ESCO1

  • CTF7 homolog 1

Related Diseases

Diseases Alias
Roberts-Sc Phocomelia Syndrome
  • Roberts Syndrome

  • Sc Phocomelia Syndrome

  • RBS

  • Long Bone Deficiencies Associated With Cleft Lip-Palate

  • Sc Pseudothalidomide Syndrome

  • Appelt-Gerken-Lenz Syndrome

  • Pseudothalidomide Syndrome

  • Tetraphocomelia-Cleft Palate Syndrome

  • Hypomelia Hypotrichosis Facial Hemangioma Syndrome

  • Roberts Syndrome/Sc Phocomelia

  • Roberts Tetraphocomelia Syndrome

  • Sc Syndrome

  • Sc Phocomelia

  • Sc Disease

  • Sc

  • Hemoglobin Sc Disease

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

Warsaw Breakage Syndrome
  • WABS

  • WBRS

Cone-Rod Dystrophy, X-Linked, 1
  • CORDX1

  • X-Linked Cone-Rod Dystrophy 1

  • Cod1

  • Cone Dystrophy X-Linked 1

  • X-Linked Cone Dystrophy 1

  • Cone-Rod Dystrophy X-Linked 1

  • Cone-Rod Dystrophy, X-Linked 1

  • Dystrophy, Cone-Rod, X-Linked, Type 1

  • Cone Dystrophy, X-Linked, 1

Chronic Atrial And Intestinal Dysrhythmia
  • CAID

  • Caid Syndrome

  • Cohesinopathy Affecting Heart And Gut Rhythm

  • Chronic Atrial Intestinal Dysrhythmia Syndrome

  • Chronic Atrial And Intestinal Dysrhythmia Syndrome

  • Chronic Atrial Dysrhythmia-Intestinal Motility Disorder

  • Dysrhythmia, Atrial And Intestinal, Chronic

Osgood-Schlatter'S Disease
  • Osgood-Schlatter Disease

  • Juvenile Osteochondrosis Of Tibial Tubercle

  • Osteochondrosis

  • Osteochondritis Of Tibial Tubercle

  • Osteochondrosis Of Proximal Tibia

  • Aseptic Necrosis Of The Tibial Tubercle

  • Osteochondrosis Of The Tibial Tubercle

  • Osteochondritis Juvenilis

Nail Disorder, Nonsyndromic Congenital, 4
  • Anonychia Congenita

  • Anonychia

  • Hyponychia Congenita

  • NDNC4

  • Anonychia/Hyponychia Congenita

  • Nonsyndromic Congenital Nail Disorder 4

  • Isolated Congenital Anonychia

  • Anonychia Congenita Totalis

  • Anonychia Totalis

  • Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4

  • Congenital Anonychia

  • Nonsyndromic Congenital Nail Disorder, 4

  • Absent Nails

  • Aplastic Nails

  • Congenital Absence Of Nails

  • Isolated Anonychia

  • Nail Disorder, Non-Syndromic Congenital, 4

  • Nail Disorder, Nonsyndromic, Congenital, Type 4

Nonsyndromic Congenital Nail Disorder
  • Nail Disorder, Nonsyndromic Congenital

Postaxial Acrofacial Dysostosis
  • Miller Syndrome

  • POADS

  • Genee-Wiedemann Syndrome

  • Postaxial Acrodysostosis

  • Genee-Wiedemann Acrofacial Dysostosis

  • Acrofacial Dysostosis, Genee-Wiedmann Type

  • Mandibulfacial Dysostosis With Postaxial Limb Anomalies

  • Gwafd

  • Poads Syndrome

  • Postaxial Acrofacial Dysostosis Syndrome

  • Wildervanck-Smith Syndrome

  • Acrofacial Dysostosis, Genee-Wiedemann Type

  • Mandibulofacial Dysostosis With Postaxial Limb Anomalies

  • Genée-Wiedemann Syndrome

  • Chromosome 11p Deletion Syndrome

Familial Isolated Trichomegaly
  • Long Eyelashes

  • Tcmgly

Diamond-Blackfan Anemia
  • Congenital Pure Red Cell Aplasia

  • Aase Syndrome

  • Erythrogenesis Imperfecta

  • Anemia, Diamond-Blackfan

  • Congenital Hypoplastic Anemia

  • Aase-Smith Ii Syndrome

  • Bds

  • Blackfan-Diamond Anemia

  • Congenital Prca

  • Congenital Hypoplastic Anemia, Blackfan-Diamond Type

  • Dba

  • Blackfan - Diamond Syndrome

  • Chronic Constitutional Pure Red Cell Anaemia

  • Anemia Diamond Blackfan Type

  • Anemia Congenital Erythroid Hypoplastic

  • Aregenerative Anemia Chronic Congenital

  • Blackfan Diamond Syndrome

  • Red Cell Aplasia, Pure Hereditary

  • Aase-Smith Syndrome Ii

  • Bda

  • Blackfan Diamond Anemia

  • Blackfan-Diamond Disease

  • Blackfan-Diamond Syndrome

  • Chronic Congenital Agenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Congenital Pure Red Cell Anemia

  • Hypoplastic Congenital Anemia

  • Inherited Erythroblastopenia

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Hypoplastic, Congenital

  • Anemia Hypoplastic Congenital

  • Fanconi Anemia

  • Constitutional Aplastic Anemia

  • Diamond-Blackfan Anemia 1

  • Aase Smith Syndrome 2

  • Congenital Red Cell Aplasia

  • Red Cell Aplasia Of Infants

  • Pure Red Cell Aplasia Of Infants

  • Congenital Red Cell Aplastic Anaemia

  • Congenital Pure Red Cell Anaemia

  • Congenital Erythroid Hypoplasia

  • Pearson Marrow-Pancreas Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus ESCO1 MGD MGI:1925055
Macaca mulatta ESCO1 VGNC VGNC:72328
Bos taurus ESCO1 VGNC VGNC:28599
Felis catus ESCO1 VGNC VGNC:61959
Canis familiaris ESCO1 VGNC VGNC:40470
Rattus norvegicus ESCO1 RGD RGD:1596873
Others ESCO1 NCBI