Camsap1 calmodulin regulated spectrin-associated protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Camsap1provided by MGI
Official Full Name: calmodulin regulated spectrin-associated protein 1provided by MGI
Primary source: MGI:MGI:3036242
See related: Ensembl:ENSMUSG00000026933 AllianceGenome:MGI:3036242
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PRO2405; 9530003A05Rik
Summary: Predicted to enable calmodulin binding activity; microtubule minus-end binding activity; and spectrin binding activity. Predicted to be involved in several processes, including cytoplasmic microtubule organization; neuron projection development; and regulation of microtubule polymerization or depolymerization. Predicted to be located in microtubule. Predicted to colocalize with microtubule minus-end. Is expressed in several structures, including 1st branchial arch; central nervous system; and lens. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations. Orthologous to human CAMSAP1 (calmodulin regulated spectrin associated protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis adult (RPKM 21.8), CNS E14 (RPKM 10.4) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 18.29 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (25816850..25873574, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (25926838..25983562, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircCamsap1 is dispensable for male fertility in mice.
Title: CircCamsap1 is dispensable for male fertility in mice.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Title: Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
CAMSAPs organize an acentrosomal microtubule network from basal varicosities in radial glial cells.
Title: CAMSAPs organize an acentrosomal microtubule network from basal varicosities in radial glial cells.
Camsap1-expressing cells exhibit regional heterogeneity in an early phase after stab injury of mouse brain. Newly born reactive astrocytes are derived from heterogeneous Camsap1-expressing cells in the injured brain.
Title: The astrocytic lineage marker calmodulin-regulated spectrin-associated protein 1 (Camsap1): phenotypic heterogeneity of newly born Camsap1-expressing cells in injured mouse brain.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78822 (e-PCR)
- UniSTS:30467

D2Mit318 (e-PCR), detects polymorphism
- UniSTS:129211

BB241755 (e-PCR)
- UniSTS:207301

C77823 (e-PCR)
- UniSTS:158932

D5Mit392.1 (e-PCR), detects polymorphism
- UniSTS:130544

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calmodulin binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule minus-end binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule minus-end binding	ISO Inferred from Sequence Orthology more info
enables microtubule minus-end binding	ISS Inferred from Sequence or Structural Similarity more info
enables spectrin binding	ISO Inferred from Sequence Orthology more info
enables spectrin binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in microtubule cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of microtubule depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of microtubule polymerization	ISO Inferred from Sequence Orthology more info
involved_in regulation of microtubule polymerization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
located_in microtubule	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with microtubule minus-end	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with microtubule minus-end	ISO Inferred from Sequence Orthology more info
colocalizes_with microtubule minus-end	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: calmodulin-regulated spectrin-associated protein 1

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)

NM_001276359.2 → NP_001263288.1 calmodulin-regulated spectrin-associated protein 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AL731682

Consensus CDS

CCDS50538.2

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3

UniProtKB/TrEMBL

A0A0A0MQE5

Related

ENSMUSP00000109804.3, ENSMUST00000114167.9

Conserved Domains (4) summary

pfam15346
Location:1257 → 1334

ARGLU; Arginine and glutamate-rich 1

pfam08683
Location:1444 → 1562

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam11971
Location:228 → 311

CAMSAP_CH; CAMSAP CH domain

pfam17095
Location:859 → 917

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
NM_001276360.2 → NP_001263289.1 calmodulin-regulated spectrin-associated protein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is longer compared to isoform 1.

Source sequence(s)

AL731682

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3

Conserved Domains (4) summary

pfam15346
Location:1268 → 1345

ARGLU; Arginine and glutamate-rich 1

pfam08683
Location:1455 → 1573

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam11971
Location:239 → 322

CAMSAP_CH; CAMSAP CH domain

pfam17095
Location:870 → 928

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
NM_001276361.2 → NP_001263290.1 calmodulin-regulated spectrin-associated protein 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 3) is longer compared to isoform 1.

Source sequence(s)

AL731682

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3

Conserved Domains (4) summary

pfam15346
Location:1277 → 1354

ARGLU; Arginine and glutamate-rich 1

pfam08683
Location:1464 → 1582

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam11971
Location:248 → 331

CAMSAP_CH; CAMSAP CH domain

pfam17095
Location:879 → 937

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
NM_001372499.2 → NP_001359428.1 calmodulin-regulated spectrin-associated protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AL731682

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3

Conserved Domains (4) summary

smart01051
Location:1455 → 1583

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam11971
Location:239 → 322

CAMSAP_CH; CAMSAP CH domain

pfam15346
Location:1268 → 1345

ARGLU; Arginine and glutamate-rich 1

pfam17095
Location:870 → 928

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
NM_001408050.1 → NP_001394979.1 calmodulin-regulated spectrin-associated protein 1 isoform 5

Status: VALIDATED

Source sequence(s)

AL731682

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3
NM_001408051.1 → NP_001394980.1 calmodulin-regulated spectrin-associated protein 1 isoform 6

Status: VALIDATED

Source sequence(s)

AL731682

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3
NM_001408052.1 → NP_001394981.1 calmodulin-regulated spectrin-associated protein 1 isoform 7

Status: VALIDATED

Source sequence(s)

AL731682

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3
NM_001408053.1 → NP_001394982.1 calmodulin-regulated spectrin-associated protein 1 isoform 8

Status: VALIDATED

Source sequence(s)

AL731682

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3
NM_001408054.1 → NP_001394983.1 calmodulin-regulated spectrin-associated protein 1 isoform 9

Status: VALIDATED

Source sequence(s)

AL731682

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3

RNA

NR_176449.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731682
NR_176450.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731682

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

25816850..25873574 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497900.4 → XP_006497963.1 calmodulin-regulated spectrin-associated protein 1 isoform X5

See identical proteins and their annotated locations for XP_006497963.1

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3

Conserved Domains (4) summary

smart01051
Location:1344 → 1472

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam11971
Location:128 → 211

CAMSAP_CH; CAMSAP CH domain

pfam15346
Location:1157 → 1234

ARGLU; Arginine and glutamate-rich 1

pfam17095
Location:759 → 817

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
XM_006497899.3 → XP_006497962.1 calmodulin-regulated spectrin-associated protein 1 isoform X5

See identical proteins and their annotated locations for XP_006497962.1

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3

Conserved Domains (4) summary

smart01051
Location:1344 → 1472

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam11971
Location:128 → 211

CAMSAP_CH; CAMSAP CH domain

pfam15346
Location:1157 → 1234

ARGLU; Arginine and glutamate-rich 1

pfam17095
Location:759 → 817

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
XM_036160731.1 → XP_036016624.1 calmodulin-regulated spectrin-associated protein 1 isoform X3

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3

Conserved Domains (4) summary

smart01051
Location:1423 → 1551

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam11971
Location:207 → 290

CAMSAP_CH; CAMSAP CH domain

pfam15346
Location:1236 → 1313

ARGLU; Arginine and glutamate-rich 1

pfam17095
Location:838 → 896

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
XM_036160733.1 → XP_036016626.1 calmodulin-regulated spectrin-associated protein 1 isoform X4

UniProtKB/Swiss-Prot

A2AHC3, Q7TQF8, Q8CBV3

Conserved Domains (4) summary

pfam11971
Location:198 → 281

CAMSAP_CH; CAMSAP CH domain

pfam08683
Location:1415 → 1533

CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated

pfam15346
Location:1227 → 1304

ARGLU; Arginine and glutamate-rich 1

pfam17095
Location:829 → 887

CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001115076.1: Suppressed sequence

Description

NM_001115076.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.