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

    Gene ID: 157922, updated on 14-Nov-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 minus-end. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 12.5), brain (RPKM 9.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CAMSAP1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (135808487..135907546, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148035587..148134968, complement)
    RS_2024_09 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 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. A new monoclonal antibody, A3B10, specific for astrocyte-lineage cells recognizes calmodulin-regulated spectrin-associated protein 1 (Camsap1). Yamamoto M, et al. J Neurosci Res, 2009 Feb. PMID 18756519
    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. 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
    5. 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

    See all (61) 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)

    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 protein binding IPI
    Inferred from Physical Interaction
    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 

    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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    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_2024_08

    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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