SASS6 - SAS-6 centriolar assembly protein Gene

中文名称：SAS-6 中心粒组装蛋白

种属: Homo sapiens

同用名: SAS6; SAS-6; MCPH14

基因 ID: 163786 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是中心粒的核心成分，是中心粒复制和发挥功能所必需的。中心粒采用车轮状结构，编码的蛋白质在微管圆柱体内形成轮毂和辐条。该基因的缺陷是常染色体隐性原发性小头畸形的原因。[RefSeq 提供，2016 年 10 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	21725316	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in centriole replication	IMP IMP: 通过突变表型推断	16244668	GOA
involved in centrosome duplication	IMP IMP: 通过突变表型推断	15665853	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IDA IDA: 通过直接分析推断	22020124	GOA
involved in positive regulation of centriole replication	IDA IDA: 通过直接分析推断	22020124	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centriole	IDA IDA: 通过直接分析推断	17681131	GOA
located in centrosome	IDA IDA: 通过直接分析推断	15665853	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	22020124	GOA
part of procentriole replication complex	IPI IPI: 通过物理相互作用推断	22020124	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

蛋白主名

其他名称

spindle assembly abnormal protein 6 homolog

SASS6 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SASS6	Q6UVJ0	CEP135	Homo sapiens	Q66GS9	Y2H	23511974
种属内	SASS6	Q6UVJ0	CEP135	Homo sapiens	Q66GS9	Anti Bait CoIP	23511974
种属内	SASS6	Q6UVJ0	CEP135	Homo sapiens	Q66GS9	Pull Down	23511974
种属内	SASS6	Q6UVJ0	ZC3HC1	Homo sapiens	Q86WB0	Anti Tag CoIP	33961781
种属内	SASS6	Q6UVJ0	ZC3HC1	Homo sapiens	Q86WB0	Anti Tag CoIP	28514442
种属内	SASS6	Q6UVJ0	APBB2	Homo sapiens	Q92870-2	Y2H Pooling	32814053
种属内	SASS6	Q6UVJ0	APBB2	Homo sapiens	Q92870-2	Validated Y2H	32814053
种属内	SASS6	Q6UVJ0	APBB2	Homo sapiens	Q92870-2	Y2H Array	32814053
种属内	SASS6	Q6UVJ0	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
种属内	SASS6	Q6UVJ0	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
种属内	SASS6	Q6UVJ0	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
种属内	SASS6	Q6UVJ0	STIL	Homo sapiens	Q15468	Anti Bait CoIP	22020124

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12454	SASS6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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