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CAMSAP3 calmodulin regulated spectrin associated protein family member 3 [ Homo sapiens (human) ]

Gene ID: 57662, updated on 24-Nov-2020

Summary

Official Symbol
CAMSAP3provided by HGNC
Official Full Name
calmodulin regulated spectrin associated protein family member 3provided by HGNC
Primary source
HGNC:HGNC:29307
See related
Ensembl:ENSG00000076826 MIM:612685
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NEZHA; PPP1R80; KIAA1543
Expression
Broad expression in skin (RPKM 9.2), duodenum (RPKM 7.0) and 18 other tissues See more
Orthologs

Genomic context

See CAMSAP3 in Genome Data Viewer
Location:
19p13.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7595863..7618304)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7660774..7683196)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372261 Neighboring gene mucolipin TRP cation channel 1 Neighboring gene patatin like phospholipase domain containing 6 Neighboring gene microRNA 6792 Neighboring gene XPA binding protein 2 Neighboring gene PET100 cytochrome c oxidase chaperone Neighboring gene Purkinje cell protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef-mediated downregulation of HLA (MHCI) may be affected by/inhibited by CAMSAP3 as demonstrated by siRNA genome-wide screen [in HeLa cells) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1543

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
microtubule minus-end binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule minus-end binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
spectrin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cilium movement ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryo development ending in birth or egg hatching ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of epithelial cell apical/basal polarity IDA
Inferred from Direct Assay
more info
PubMed 
establishment or maintenance of microtubule cytoskeleton polarity IDA
Inferred from Direct Assay
more info
PubMed 
microtubule anchoring IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of microtubule depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection development IEA
Inferred from Electronic Annotation
more info
 
protein transport along microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of Golgi organization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of focal adhesion assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of microtubule polymerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of organelle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
zonula adherens maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
centrosome IDA
Inferred from Direct Assay
more info
 
colocalizes_with centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with microtubule minus-end IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with microtubule minus-end IDA
Inferred from Direct Assay
more info
PubMed 
motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
zonula adherens IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
calmodulin-regulated spectrin-associated protein 3
Names
protein phosphatase 1, regulatory subunit 80

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001080429.3NP_001073898.1  calmodulin-regulated spectrin-associated protein 3 isoform 1

    See identical proteins and their annotated locations for NP_001073898.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC008763, BC020431, BC035808, BC064490
    Consensus CDS
    CCDS45947.1
    UniProtKB/Swiss-Prot
    Q9P1Y5
    Related
    ENSP00000416797.1, ENST00000446248.4
    Conserved Domains (3) summary
    pfam08683
    Location:11371255
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:244323
    CAMSAP_CH; CAMSAP CH domain
    pfam17095
    Location:613670
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
  2. NM_020902.2NP_065953.1  calmodulin-regulated spectrin-associated protein 3 isoform 2

    See identical proteins and their annotated locations for NP_065953.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two exons in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC008763, BC020431, BC035808, BU733578
    Consensus CDS
    CCDS42489.1
    UniProtKB/Swiss-Prot
    Q9P1Y5
    Related
    ENSP00000160298.3, ENST00000160298.8
    Conserved Domains (3) summary
    pfam08683
    Location:11101228
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:217296
    CAMSAP_CH; CAMSAP CH domain
    pfam17095
    Location:586643
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    7595863..7618304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027036.1XP_016882525.1  calmodulin-regulated spectrin-associated protein 3 isoform X3

  2. XM_011528154.2XP_011526456.1  calmodulin-regulated spectrin-associated protein 3 isoform X2

    Conserved Domains (3) summary
    pfam08683
    Location:11201238
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:244323
    CAMSAP_CH; CAMSAP CH domain
    pfam17095
    Location:596653
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
  3. XM_005272491.3XP_005272548.1  calmodulin-regulated spectrin-associated protein 3 isoform X1

    Conserved Domains (3) summary
    pfam08683
    Location:11261244
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:233312
    CAMSAP_CH; CAMSAP CH domain
    pfam17095
    Location:602659
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

RNA

  1. XR_001753728.1 RNA Sequence

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