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

Gene ID: 57662, updated on 4-Jan-2025

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; AllianceGenome:HGNC:29307
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
Summary
Enables actin filament binding activity and microtubule minus-end binding activity. Involved in several processes, including microtubule cytoskeleton organization; regulation of organelle organization; and zonula adherens maintenance. Located in cytoplasm; microtubule cytoskeleton; and zonula adherens. [provided by Alliance of Genome Resources, Jan 2025]
Expression
Broad expression in skin (RPKM 9.2), duodenum (RPKM 7.0) and 18 other tissues See more
Orthologs
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Genomic context

See CAMSAP3 in Genome Data Viewer
Location:
19p13.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7595863..7618304)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7596573..7619187)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7660749..7683190)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9986 Neighboring gene mucolipin TRP cation channel 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13887 Neighboring gene patatin like phospholipase domain containing 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7614843-7615534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7615535-7616226 Neighboring gene MPRA-validated peak3321 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9987 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7661728-7662333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7669777-7670278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7670279-7670778 Neighboring gene microRNA 6792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13889 Neighboring gene XPA binding protein 2 Neighboring gene PET100 cytochrome c oxidase chaperone Neighboring gene syntaxin binding protein 2 Neighboring gene Purkinje cell protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Clone Names

  • KIAA1543

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding  
enables actin filament binding PubMed 
enables calmodulin binding  
enables microtubule minus-end binding PubMed 
enables protein binding PubMed 
enables spectrin binding  
Process Evidence Code Pubs
involved_in DNA replication checkpoint signaling  
involved_in cilium movement  
involved_in embryo development ending in birth or egg hatching  
involved_in epithelial cell-cell adhesion PubMed 
involved_in establishment of epithelial cell apical/basal polarity PubMed 
involved_in establishment or maintenance of microtubule cytoskeleton polarity PubMed 
involved_in in utero embryonic development  
involved_in microtubule anchoring PubMed 
involved_in microtubule cytoskeleton organization PubMed 
involved_in microtubule cytoskeleton organization PubMed 
involved_in neuron projection development  
involved_in protein transport along microtubule  
involved_in regulation of Golgi organization PubMed 
involved_in regulation of cell migration PubMed 
involved_in regulation of focal adhesion assembly PubMed 
involved_in regulation of microtubule cytoskeleton organization PubMed 
involved_in regulation of microtubule polymerization PubMed 
involved_in regulation of organelle organization PubMed 
involved_in replication fork arrest  
involved_in zonula adherens maintenance PubMed 
Component Evidence Code Pubs
located_in axoneme  
colocalizes_with centrosome PubMed 
located_in ciliary basal body  
located_in cytoplasm PubMed 
colocalizes_with microtubule minus-end PubMed 
located_in motile cilium  
part_of replication fork protection complex  
located_in zonula adherens PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    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
    Q8NDF1, Q9P1Y5
    Related
    ENSP00000160298.3, ENST00000160298.9
    Conserved Domains (4) summary
    PHA03247
    Location:431862
    PHA03247; large tegument protein UL36; Provisional
    pfam11971
    Location:217296
    CAMSAP_CH; CAMSAP CH domain
    pfam08683
    Location:11101228
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam17095
    Location:586643
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    7596573..7619187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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