KNSTRN - kinetochore localized astrin (SPAG5) binding protein Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 90417

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

KNSTRN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KNSTRN Q9Y448 OIP5 Homo sapiens O43482 32296183
Intra
KNSTRN Q9Y448 OIP5 Homo sapiens O43482 32296183
Intra
KNSTRN Q9Y448 WASHC3 Homo sapiens Q9Y3C0 32296183
Intra
KNSTRN Q9Y448 WASHC3 Homo sapiens Q9Y3C0 32296183
Intra
KNSTRN Q9Y448 SGF29 Homo sapiens Q96ES7 33961781
Intra
KNSTRN Q9Y448 IFT20 Homo sapiens Q8IY31-3 32296183
Intra
KNSTRN Q9Y448 IFT20 Homo sapiens Q8IY31-3 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others KNSTRN NCBI