2. Gene
  3. SASS6 - SAS-6 centriolar assembly protein Gene

SASS6 - SAS-6 centriolar assembly protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SAS6; SAS-6; MCPH14

Gene ID: 163786 | Gene type: protein coding

About SASS6

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:100,083,570-100,132,930 (from NCBI)

This gene has 2 transcripts (splice variants), 191 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.8), testis (RPKM 6.7) and 25 other tissues.

Summary

The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]

SASS6 Products(2)

mRNA Protein Name
NM_001304829.2 NP_001291758.1 spindle assembly abnormal protein 6 homolog isoform 2
NM_194292.3 NP_919268.1 spindle assembly abnormal protein 6 homolog isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
21725316 GOA
Biological Process GO Annotation Evidence Reference Source
involved in centriole replication IMP
IMP: Inferred from mutant phenotype
16244668 GOA
involved in centrosome duplication IMP
IMP: Inferred from mutant phenotype
15665853 GOA
involved in positive regulation of G1/S transition of mitotic cell cycle IDA
IDA: Inferred from direct assay
22020124 GOA
involved in positive regulation of centriole replication IDA
IDA: Inferred from direct assay
22020124 GOA
Cellular Component GO Annotation Evidence Reference Source
located in centriole IDA
IDA: Inferred from direct assay
17681131 GOA
located in centrosome IDA
IDA: Inferred from direct assay
15665853 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
22020124 GOA
part of procentriole replication complex IPI
IPI: Inferred from physical interaction
22020124 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

spindle assembly abnormal protein 6 homolog

Related Diseases

Diseases Alias
Microcephaly 14, Primary, Autosomal Recessive

MCPH14

Primary Autosomal Recessive Microcephaly 14

Microcephaly, Type 14, Primary, Autosomal Recessive
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
Primary Microcephaly

True Microcephaly

Microcephaly, Primary
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Precocious Puberty, Central, 2

CPPB2

Central Precocious Puberty 2

Precocious Puberty, Central 2

Precocious Puberty, Central, Type 2
Microcephaly 16, Primary, Autosomal Recessive

MCPH16

Primary Autosomal Recessive Microcephaly 16
Microcephaly 9, Primary, Autosomal Recessive

MCPH9

Primary Autosomal Recessive Microcephaly 9

Microcephaly, Type 9, Primary, Autosomal Recessive
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities

Microcephaly 15, Primary, Autosomal Recessive

NEDMISBA

Mcph15

Primary Autosomal Recessive Microcephaly 15

Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities
Spastic Monoplegia

Monoplegic Infantile Cerebral Palsy

Spastic Monoplegic Cerebral Palsy

Infantile Monoplegic Cerebral Palsy

Cerebral Palsy Spastic Monoplegic

Spastic Monoplegia Cerebral Palsy
Microcephaly 17, Primary, Autosomal Recessive

MCPH17

Primary Autosomal Recessive Microcephaly 17
Microcephaly 5, Primary, Autosomal Recessive

MCPH5

Primary Autosomal Recessive Microcephaly 5

Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern

Microcephaly, Primary Autosomal Recessive, 5
Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism
Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12454 SASS6 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SASS6 VGNC VGNC:34295
Canis familiaris SASS6 VGNC VGNC:45873
Felis catus SASS6 VGNC VGNC:64880
Macaca mulatta SASS6 VGNC VGNC:77100
Rattus norvegicus SASS6 RGD RGD:1306255
Mus musculus SASS6 MGD MGI:1920026