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

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

Homo sapiens

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

Gene ID: 114799 | Gene type: protein coding

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
  • 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