1. Gene
  2. KNSTRN - kinetochore localized astrin (SPAG5) binding protein Gene

KNSTRN - kinetochore localized astrin (SPAG5) binding protein Gene

中文名称:着丝粒定位 astrin (SPAG5) 结合蛋白

种属: Homo sapiens

同用名: SKAP; HSD11; ROCHIS; C15orf23; TRAF4AF1

基因 ID: 90417 | 基因类型: protein coding

关于 KNSTRN

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,382,721-40,394,288 (from NCBI)

This gene has 16 transcripts (splice variants), 194 orthologues and is associated with 51 phenotypes. Broad expression in testis (RPKM 31.0), thyroid (RPKM 17.6) and 23 other tissues.

功能概要

启用微管加端结合活性和蛋白质同源二聚化活性。参与多个过程,包括细胞对表皮生长因子刺激的反应;有丝分裂姐妹染色单体分离;纺锤体微管附着于着丝粒的调节。位于多个细胞成分中,包括着丝粒;微管细胞骨架;和荷叶边。涉及光化性角化病和皮肤鳞状细胞癌。 [由基因组资源联盟提供,2022 年 4 月]

Enables microtubule plus-end binding activity and protein homodimerization activity. Involved in several processes, including cellular response to epidermal growth factor stimulus; mitotic sister chromatid segregation; and regulation of attachment of spindle microtubules to kinetochore. Located in several cellular components, including kinetochore; microtubule cytoskeleton; and ruffle. Implicated in actinic keratosis and skin squamous cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]

KNSTRN 基因产物(3)

mRNA Protein Name
NM_001142761.1 NP_001136233.1 small kinetochore-associated protein isoform b
NM_001142762.1 NP_001136234.1 small kinetochore-associated protein isoform c
NM_033286.4 NP_150628.3 small kinetochore-associated protein isoform a
蛋白主名 其他名称

small kinetochore-associated protein

TRAF4 associated factor 1

KNSTRN 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
KNSTRN Q9Y448 OIP5 Homo sapiens O43482
Y2H Array
32296183
种属内
KNSTRN Q9Y448 OIP5 Homo sapiens O43482
Y2H Prey Pooling
32296183
种属内
KNSTRN Q9Y448 WASHC3 Homo sapiens Q9Y3C0
Y2H Prey Pooling
32296183
种属内
KNSTRN Q9Y448 WASHC3 Homo sapiens Q9Y3C0
Y2H Array
32296183
种属内
KNSTRN Q9Y448 SGF29 Homo sapiens Q96ES7
Anti Tag CoIP
33961781
种属内
KNSTRN Q9Y448 IFT20 Homo sapiens Q8IY31-3
Y2H Array
32296183
种属内
KNSTRN Q9Y448 IFT20 Homo sapiens Q8IY31-3
Y2H Prey Pooling
32296183
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
Roifman-Chitayat Syndrome

Combined Immunodeficiency With Faciooculoskeletal Anomalies

ROCHIS

Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, And Developmental Delay

Roifman-Chitayat Syndrome, Digenic

Skin Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Skin

Epidermoid Skin Carcinoma

Squamous Cell Carcinoma Of The Skin

Squamous Cell Epithelioma Of Skin

Cutaneous Squamous Cell Carcinoma

Scc - [Squamous Cell Carcinoma] Of Skin

Actinic Keratosis

Solar Keratosis

Actinic Keratosis

Senile Hyperkeratosis

Sk - Solar Keratosis

Keratosis, Actinic

Seborrheic Keratosis

Ak - [Actinic Keratosis]

Sk - [Solar Keratosis]

Skin Melanoma

Cutaneous Melanoma

Malignant Ear Melanoma

Malignant Lip Melanoma

Malignant Lower Limb Melanoma

Malignant Melanoma Of Ear And/Or External Auricular Canal

Malignant Melanoma Of Skin Of Lower Limb

Malignant Melanoma Of Skin Of Trunk Except Scrotum

Malignant Melanoma Of Skin Of Upper Limb

Malignant Neck Melanoma

Malignant Scalp Melanoma

Malignant Trunk Melanoma

Malignant Upper Limb Melanoma

Melanoma, Cutaneous Malignant

Melanoma

Malignant Melanoma Of Skin

Melanoma Nos

Malignant Mole, Meaning Melanoma Of Unspecified Site

Melanoma Of Unspecified Site

Cutaneous Malignant Melanoma

Mm - [Malignant Melanoma]

Chitayat Syndrome

CHYTS

Bronchomalacia

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Skin Sarcoma

Cutaneous Sarcoma

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris KNSTRN VGNC VGNC:42498
Bos taurus KNSTRN VGNC VGNC:30698
Rattus norvegicus KNSTRN RGD RGD:1303240
Mus musculus KNSTRN MGD MGI:1289298
Macaca mulatta KNSTRN VGNC VGNC:108311