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SASS6 - SAS-6 centriolar assembly protein Gene

Also Known as SAS6; SAS-6; MCPH14

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 163786

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	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	21725316	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
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	参考文献	由来
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

SASS6 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SASS6	Q6UVJ0	CEP135	Homo sapiens	Q66GS9	Y2H	23511974
Intra	SASS6	Q6UVJ0	CEP135	Homo sapiens	Q66GS9	Anti Bait CoIP	23511974
Intra	SASS6	Q6UVJ0	CEP135	Homo sapiens	Q66GS9	Pull Down	23511974
Intra	SASS6	Q6UVJ0	ZC3HC1	Homo sapiens	Q86WB0	Anti Tag CoIP	33961781
Intra	SASS6	Q6UVJ0	ZC3HC1	Homo sapiens	Q86WB0	Anti Tag CoIP	28514442
Intra	SASS6	Q6UVJ0	APBB2	Homo sapiens	Q92870-2	Y2H Pooling	32814053
Intra	SASS6	Q6UVJ0	APBB2	Homo sapiens	Q92870-2	Validated Y2H	32814053
Intra	SASS6	Q6UVJ0	APBB2	Homo sapiens	Q92870-2	Y2H Array	32814053
Intra	SASS6	Q6UVJ0	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	SASS6	Q6UVJ0	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	SASS6	Q6UVJ0	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	SASS6	Q6UVJ0	STIL	Homo sapiens	Q15468	Anti Bait CoIP	22020124

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS12454	SASS6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	SASS6	NCBI