KNSTRN - kinetochore localized astrin (SPAG5) binding protein Gene

Homo sapiens

Also known as SKAP; HSD11; ROCHIS; C15orf23; TRAF4AF1

Gene ID: 90417 | Gene type: protein coding

About 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.

Summary

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 Products(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

Protein Preferred Names

Protein Names

small kinetochore-associated protein

TRAF4 associated factor 1

Related Diseases

Diseases

Alias

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

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-RS07413	KNSTRN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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

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