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CAMSAP1 calmodulin regulated spectrin associated protein 1 [ Homo sapiens (human) ]

Gene ID: 157922, updated on 3-Apr-2024

Summary

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Official Symbol
CAMSAP1provided by HGNC
Official Full Name
calmodulin regulated spectrin associated protein 1provided by HGNC
Primary source
HGNC:HGNC:19946
See related
Ensembl:ENSG00000130559 MIM:613774; AllianceGenome:HGNC:19946
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
CDCBM12
Summary
Enables microtubule minus-end binding activity and spectrin binding activity. Involved in several processes, including neuron projection development; regulation of cell morphogenesis; and regulation of microtubule polymerization. Located in microtubule. Colocalizes with microtubule minus-end. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 12.5), brain (RPKM 9.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
9q34.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (135808487..135907546, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148035587..148134968, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (138700333..138799392, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138586423-138586937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20488 Neighboring gene spermatogenesis and oogenesis specific basic helix-loop-helix 1 Neighboring gene Sharpr-MPRA regulatory region 14740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138615694-138616271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138619907-138620844 Neighboring gene potassium sodium-activated channel subfamily T member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138639213-138639970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138675789-138676289 Neighboring gene uncharacterized LOC107987140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138695080-138695746 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:138712950-138713111 Neighboring gene Sharpr-MPRA regulatory region 6734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138770145-138770777 Neighboring gene Sharpr-MPRA regulatory region 8889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138780903-138781606 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:138796685-138797884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20492 Neighboring gene CAMSAP1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138823557-138824056 Neighboring gene Sharpr-MPRA regulatory region 7357 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:138838500-138839699 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:138842180-138842463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:138852839-138853339 Neighboring gene UBA domain containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Structural determinants of microtubule minus end preference in CAMSAP CKK domains. Atherton J, et al. Nat Commun, 2019 Nov 20. PMID 31748546, Free PMC Article
  2. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Khalaf-Nazzal R, et al. Am J Hum Genet, 2022 Nov 3. PMID 36283405, Free PMC Article
  3. Calmodulin Regulated Spectrin Associated Protein 1 mRNA is Directly Regulated by miR-126 in Primary Human Osteoblasts. Strassburg S, et al. J Cell Biochem, 2017 Jul. PMID 27958650
  4. MicroRNA-126 modulates the tumor microenvironment by targeting calmodulin-regulated spectrin-associated protein 1 (Camsap1). Sun X, et al. Int J Oncol, 2014 May. PMID 24603804
  5. A conserved sequence in calmodulin regulated spectrin-associated protein 1 links its interaction with spectrin and calmodulin to neurite outgrowth. King MD, et al. J Neurochem, 2014 Feb. PMID 24117850, Free PMC Article

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
    Title: Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
  2. The CAMSAP1 CKK domain remodels its microtubule interaction site and changes the underlying polymer structure because the tubulin lattice conformation is not optimal for its binding. Thus, in contrast to many microtubule associated proteins, the human CKK domain can differentiate subtly specific tubulin conformations to enable microtubule minus-end recognition.
    Title: Structural determinants of microtubule minus end preference in CAMSAP CKK domains.
  3. Calmodulin Regulated Spectrin Associated Protein 1 mRNA is Directly Regulated by miR-126 in Primary Human Osteoblasts
    Title: Calmodulin Regulated Spectrin Associated Protein 1 mRNA is Directly Regulated by miR-126 in Primary Human Osteoblasts.
  4. Results show that Camsap1 is related with the prognosis of laryngeal squamous cell carcinoma patients. Its expression inducs microtubule formation and aggregation.
    Title: MicroRNA-126 modulates the tumor microenvironment by targeting calmodulin-regulated spectrin-associated protein 1 (Camsap1).
  5. These results show that members of the CAMSAP/Patronin family all localize to and protect minus-ends but have evolved distinct effects on microtubule dynamics.
    Title: Regulation of microtubule minus-end dynamics by CAMSAPs and Patronin.
  6. The CKK domain binds microtubules and represents a domain that evolved with the metazoa.
    Title: The CKK domain (DUF1781) binds microtubules and defines the CAMSAP/ssp4 family of animal proteins.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cortical dysplasia, complex, with other brain malformations 12
MedGen: C5830407 OMIM: 620316 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31228, MGC163452, DKFZp434F195, DKFZp434G2311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables microtubule minus-end binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables spectrin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in microtubule cytoskeleton organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuron projection development IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of microtubule polymerization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with microtubule minus-end IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
calmodulin-regulated spectrin-associated protein 1
Names
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_001411031.1 → NP_001397960.1  calmodulin-regulated spectrin-associated protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL158822, AL353636, AL355574
    Consensus CDS
    CCDS94531.1
    Related
    ENSP00000312463.6, ENST00000312405.10

  2. NM_015447.4 → NP_056262.3  calmodulin-regulated spectrin-associated protein 1 isoform 1

    See identical proteins and their annotated locations for NP_056262.3

    Status: VALIDATED

    Source sequence(s)
    AL355574, AL834528, AW448941, BC130580, BU949503
    Consensus CDS
    CCDS35176.2
    UniProtKB/Swiss-Prot
    A1L4L2, B2REB2, B2REB3, Q5T5Y3, Q70W33, Q8NCY0, Q96E80, Q96FM3, Q9UFJ5
    UniProtKB/TrEMBL
    A0A384NY94, B7ZLW1
    Related
    ENSP00000374183.4, ENST00000389532.9
    Conserved Domains (4) summary
    smart01051
    Location:1463 → 1591
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:229 → 312
    CAMSAP_CH; CAMSAP CH domain
    pfam15346
    Location:1276 → 1353
    ARGLU; Arginine and glutamate-rich 1
    pfam17095
    Location:870 → 921
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    135808487..135907546 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518274.2 → XP_011516576.1  calmodulin-regulated spectrin-associated protein 1 isoform X5

    UniProtKB/TrEMBL
    B7ZLW1
    Conserved Domains (5) summary
    smart01051
    Location:1264 → 1392
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:30 → 113
    CAMSAP_CH; CAMSAP CH domain
    pfam13863
    Location:1075 → 1156
    DUF4200; Domain of unknown function (DUF4200)
    pfam15346
    Location:1077 → 1154
    ARGLU; Arginine and glutamate-rich 1
    pfam17095
    Location:671 → 722
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

  2. XM_011518273.3 → XP_011516575.1  calmodulin-regulated spectrin-associated protein 1 isoform X4

    UniProtKB/TrEMBL
    B7ZLW1
    Conserved Domains (5) summary
    smart01051
    Location:1275 → 1403
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:41 → 124
    CAMSAP_CH; CAMSAP CH domain
    pfam13863
    Location:1086 → 1167
    DUF4200; Domain of unknown function (DUF4200)
    pfam15346
    Location:1088 → 1165
    ARGLU; Arginine and glutamate-rich 1
    pfam17095
    Location:682 → 733
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

  3. XM_047422808.1 → XP_047278764.1  calmodulin-regulated spectrin-associated protein 1 isoform X3

  4. XM_011518272.2 → XP_011516574.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

    UniProtKB/TrEMBL
    B7ZLW1
    Conserved Domains (5) summary
    smart01051
    Location:1330 → 1458
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:96 → 179
    CAMSAP_CH; CAMSAP CH domain
    pfam13863
    Location:1141 → 1222
    DUF4200; Domain of unknown function (DUF4200)
    pfam15346
    Location:1143 → 1220
    ARGLU; Arginine and glutamate-rich 1
    pfam17095
    Location:737 → 788
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

  5. XM_005263396.4 → XP_005263453.1  calmodulin-regulated spectrin-associated protein 1 isoform X1

    UniProtKB/TrEMBL
    B7ZLW1
    Related
    ENSP00000386420.3, ENST00000409386.3
    Conserved Domains (5) summary
    smart01051
    Location:1474 → 1602
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:240 → 323
    CAMSAP_CH; CAMSAP CH domain
    pfam13863
    Location:1285 → 1366
    DUF4200; Domain of unknown function (DUF4200)
    pfam15346
    Location:1287 → 1364
    ARGLU; Arginine and glutamate-rich 1
    pfam17095
    Location:881 → 932
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

  6. XM_017014301.1 → XP_016869790.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

    UniProtKB/TrEMBL
    B7ZLW1
    Conserved Domains (5) summary
    smart01051
    Location:1330 → 1458
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:96 → 179
    CAMSAP_CH; CAMSAP CH domain
    pfam13863
    Location:1141 → 1222
    DUF4200; Domain of unknown function (DUF4200)
    pfam15346
    Location:1143 → 1220
    ARGLU; Arginine and glutamate-rich 1
    pfam17095
    Location:737 → 788
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

  7. XM_017014302.1 → XP_016869791.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

    UniProtKB/TrEMBL
    B7ZLW1
    Conserved Domains (5) summary
    smart01051
    Location:1330 → 1458
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:96 → 179
    CAMSAP_CH; CAMSAP CH domain
    pfam13863
    Location:1141 → 1222
    DUF4200; Domain of unknown function (DUF4200)
    pfam15346
    Location:1143 → 1220
    ARGLU; Arginine and glutamate-rich 1
    pfam17095
    Location:737 → 788
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    148035587..148134968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362029.1 → XP_054218004.1  calmodulin-regulated spectrin-associated protein 1 isoform X5

  2. XM_054362028.1 → XP_054218003.1  calmodulin-regulated spectrin-associated protein 1 isoform X4

  3. XM_054362027.1 → XP_054218002.1  calmodulin-regulated spectrin-associated protein 1 isoform X3

  4. XM_054362026.1 → XP_054218001.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

  5. XM_054362023.1 → XP_054217998.1  calmodulin-regulated spectrin-associated protein 1 isoform X1

  6. XM_054362024.1 → XP_054217999.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

  7. XM_054362025.1 → XP_054218000.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T5Y3.2 GenPept UniProtKB/Swiss-Prot:Q5T5Y3

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