1. Gene
  2. CASKIN1 - CASK interacting protein 1 Gene

CASKIN1 - CASK interacting protein 1 Gene

Homo sapiens

Also known as ANKS5A

Gene ID: 57524 | Gene type: protein coding

About CASKIN1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:2,177,180-2,196,605 (from NCBI)

This gene has 3 transcripts (splice variants), 254 orthologues and 1 paralogue. Broad expression in brain (RPKM 9.2), colon (RPKM 2.0) and 23 other tissues.

Summary

Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm and membrane. [provided by Alliance of Genome Resources, Apr 2022]

CASKIN1 Products(1)

mRNA Protein Name
NM_020764.4 NP_065815.1 caskin-1

CASKIN1 Protein Structure

Ank_5

Ank_5: Ankyrin repeats (many copies) (39 - 89)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (99 - 170)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (173 - 251)

SH3_2

SH3_2: Variant SH3 domain (286 - 341)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (472 - 532)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (547 - 602)

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  • 1431 a.a.
Protein Preferred Names Protein Names

caskin-1

Related Diseases

Diseases Alias
Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia

Micpch

X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

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
Rattus norvegicus CASKIN1 RGD RGD:620191
Macaca mulatta CASKIN1 VGNC VGNC:70593
Felis catus CASKIN1 VGNC VGNC:82359
Bos taurus CASKIN1 VGNC VGNC:26777
Canis familiaris CASKIN1 VGNC VGNC:38730
Mus musculus CASKIN1 MGD MGI:2442952