2. Gene
  3. KANK1 - KN motif and ankyrin repeat domains 1 Gene

KANK1 - KN motif and ankyrin repeat domains 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as KANK; CPSQ2; ANKRD15

Gene ID: 23189 | Gene type: protein coding

About KANK1

Cytogenetic location: 9p24.3 Genomic coordinates (GRCh38): 9:470,295-746,103 (from NCBI)

This gene has 50 transcripts (splice variants), 294 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 11.7), heart (RPKM 11.6) and 24 other tissues.

Summary

The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in Cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

KANK1 Products(18)

mRNA Protein Name
NM_001256876.3 NP_001243805.1 KN motif and ankyrin repeat domain-containing protein 1 isoform L
NM_001256877.3 NP_001243806.1 KN motif and ankyrin repeat domain-containing protein 1 isoform L
NM_001354331.2 NP_001341260.1 KN motif and ankyrin repeat domain-containing protein 1 isoform c
NM_001354332.2 NP_001341261.1 KN motif and ankyrin repeat domain-containing protein 1 isoform d
NM_001354333.2 NP_001341262.1 KN motif and ankyrin repeat domain-containing protein 1 isoform S
NM_001354334.2 NP_001341263.1 KN motif and ankyrin repeat domain-containing protein 1 isoform L
NM_001354335.2 NP_001341264.1 KN motif and ankyrin repeat domain-containing protein 1 isoform S
NM_001354336.2 NP_001341265.1 KN motif and ankyrin repeat domain-containing protein 1 isoform e
NM_001354337.2 NP_001341266.1 KN motif and ankyrin repeat domain-containing protein 1 isoform S
NM_001354338.2 NP_001341267.1 KN motif and ankyrin repeat domain-containing protein 1 isoform f
NM_001354339.2 NP_001341268.1 KN motif and ankyrin repeat domain-containing protein 1 isoform g
NM_001354340.2 NP_001341269.1 KN motif and ankyrin repeat domain-containing protein 1 isoform f
NM_001354341.2 NP_001341270.1 KN motif and ankyrin repeat domain-containing protein 1 isoform S
NM_001354342.2 NP_001341271.1 KN motif and ankyrin repeat domain-containing protein 1 isoform g
NM_001354343.2 NP_001341272.1 KN motif and ankyrin repeat domain-containing protein 1 isoform g
NM_001354344.2 NP_001341273.1 KN motif and ankyrin repeat domain-containing protein 1 isoform f
NM_015158.5 NP_055973.2 KN motif and ankyrin repeat domain-containing protein 1 isoform L
NM_153186.6 NP_694856.1 KN motif and ankyrin repeat domain-containing protein 1 isoform S

KANK1 Protein Structure

KN_motif

KN_motif: KN motif (30 - 68)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1151 - 1205)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1212 - 1294)

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  • 1200
  • 1352 a.a.
Protein Preferred Names Protein Names

KN motif and ankyrin repeat domain-containing protein 1

ankyrin repeat domain-containing protein 15

Related Diseases

Diseases Alias
Cerebral Palsy, Spastic Quadriplegic, 2

CPSQ2

Cerebral Palsy, Spastic Quadriplegic 2

Palsy, Cerebral, Spastic Quadriplegic, Type 2
Inherited Congenital Spastic Tetraplegia

Inherited Congenital Spastic Quadriplegia

Quadriplegic Cerebral Palsy

Spastic Quadriplegic Cerebral Palsy
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed
Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy

Quadriplegic Infantile Cerebral Palsy

Tetraplegic Infantile Cerebral Palsy

Cerebral Palsy Spastic Quadriplegic

Quadriplegic Cerebral Palsy

Spastic Quadriplegia Cerebral Palsy

Spastic Tetraplegia Cerebral Palsy

Cerebral Palsy, Quadriplegic, Infantile

Cerebral Palsy With Spastic Tetraplegia

Congenital Spastic Quadriplegia

Spastic Tetraplegic Cerebral Palsy

Congenital Quadriplegia Nos

Tetraplegic Cerebral Palsy
Quadriplegia

Tetraplegia

Tetraplegias
Hereditary Spastic Paraplegia 51

Autosomal Dominant Spastic Paraplegia 51

Cpsq4

Spastic Quadriplegic Cerebral Palsy 4

Spg51

Spastic Paraplegia 51, Autosomal Recessive
Spastic Cerebral Palsy

Palsy, Cerebral, Spastic

Infantile Hemiplegia Nos

Postnatal Infantile Hemiplegia Nos

Congenital Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Congenital Hemiplegia Nos

Hemiplegic Cerebral Palsy

Hemiplegic Infantile Cerebral Palsy
Metanephric Adenoma
Myeloproliferative Neoplasm

Myeloproliferative Disorder

Chronic Myeloproliferative Disease

Myeloproliferative Neoplasms

Chronic Myeloproliferative Disorder

Cmpd

Cmpd, U

Chronic Myeloproliferative Disorders

Mpd

Mpn

Myeloproliferative Disorders

Myeloproliferative Disease

Campomelic Dysplasia
Renal Adenoma

Renal Cell Adenoma
Intellectual Developmental Disorder, Autosomal Dominant 2

MRD2

Autosomal Dominant Non-Syndromic Intellectual Disability 2

Autosomal Dominant Intellectual Developmental Disorder 2

Mental Retardation, Autosomal Dominant 2
Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome
Chromosome 9p Deletion Syndrome

Monosomy 9p

Monosomy 9p Syndrome

Alfi Syndrome

9p Syndrome

Chromosome 9p Deletion

9p Deletion

9p Monosomy

Deletion 9p

Partial Monosomy 9p

9p Deletion Syndrome

9p- Syndrome

Alfi'S Syndrome

Chromosome 9, Partial Trisomy 9p
Nephrotic Syndrome, Type 3

NPHS3

Nephrotic Syndrome Type 3

Nephrotic Syndrome, Early-Onset, Type 3

Early Onset Nephrotic Syndrome Type 3

Nephrotic Syndrome 3

Early-Onset Nephrotic Syndrome Type 3
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Spastic Paraplegia 50, Autosomal Recessive

Hereditary Spastic Paraplegia 50

SPG50

Ap-4 Deficiency Syndrome

Ap-4-Associated Hereditary Spastic Paraplegia

Adaptor Protein Complex 4 Deficiency

Cerebral Palsy, Spastic Quadriplegic, 3, Formerly

Cpsq3, Formerly

Autosomal Recessive Spastic Paraplegia 50

Cpsq3

Spastic Quadriplegic Cerebral Palsy 3

Ap-4 Deficiency

Ap-4-Associated Hsp

Paraplegia, Spastic, Autosomal Recessive, Type 50

Spastic Paraplegia-50, Autosomal Recessive
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-RS07063 KANK1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus KANK1 VGNC VGNC:102942
Macaca mulatta KANK1 VGNC VGNC:103275
Rattus norvegicus KANK1 RGD RGD:1307714
Canis familiaris KANK1 VGNC VGNC:53727
Bos taurus KANK1 VGNC VGNC:56976
Mus musculus KANK1 MGD MGI:2147707