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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

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

      Status: VALIDATED

      Source sequence(s)
      AL158822, AL353636, AL355574
      Consensus CDS
      CCDS94531.1
      UniProtKB/TrEMBL
      B7ZLW1
      Related
      ENSP00000312463.6, ENST00000312405.10
    2. NM_015447.4NP_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:14631591
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:229312
      CAMSAP_CH; CAMSAP CH domain
      pfam15346
      Location:12761353
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:870921
      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_011518274.2XP_011516576.1  calmodulin-regulated spectrin-associated protein 1 isoform X5

      UniProtKB/TrEMBL
      B7ZLW1
      Conserved Domains (5) summary
      smart01051
      Location:12641392
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:30113
      CAMSAP_CH; CAMSAP CH domain
      pfam13863
      Location:10751156
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:10771154
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:671722
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    2. XM_011518273.3XP_011516575.1  calmodulin-regulated spectrin-associated protein 1 isoform X4

      UniProtKB/TrEMBL
      B7ZLW1
      Conserved Domains (5) summary
      smart01051
      Location:12751403
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:41124
      CAMSAP_CH; CAMSAP CH domain
      pfam13863
      Location:10861167
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:10881165
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:682733
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    3. XM_047422808.1XP_047278764.1  calmodulin-regulated spectrin-associated protein 1 isoform X3

      UniProtKB/TrEMBL
      B7ZLW1
    4. XM_011518272.2XP_011516574.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      B7ZLW1
      Conserved Domains (5) summary
      smart01051
      Location:13301458
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:96179
      CAMSAP_CH; CAMSAP CH domain
      pfam13863
      Location:11411222
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:11431220
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:737788
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    5. XM_005263396.4XP_005263453.1  calmodulin-regulated spectrin-associated protein 1 isoform X1

      UniProtKB/TrEMBL
      B7ZLW1
      Related
      ENSP00000386420.3, ENST00000409386.3
      Conserved Domains (5) summary
      smart01051
      Location:14741602
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:240323
      CAMSAP_CH; CAMSAP CH domain
      pfam13863
      Location:12851366
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:12871364
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:881932
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    6. XM_017014301.1XP_016869790.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      B7ZLW1
      Conserved Domains (5) summary
      smart01051
      Location:13301458
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:96179
      CAMSAP_CH; CAMSAP CH domain
      pfam13863
      Location:11411222
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:11431220
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:737788
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    7. XM_017014302.1XP_016869791.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      B7ZLW1
      Conserved Domains (5) summary
      smart01051
      Location:13301458
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:96179
      CAMSAP_CH; CAMSAP CH domain
      pfam13863
      Location:11411222
      DUF4200; Domain of unknown function (DUF4200)
      pfam15346
      Location:11431220
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:737788
      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_054362029.1XP_054218004.1  calmodulin-regulated spectrin-associated protein 1 isoform X5

      UniProtKB/TrEMBL
      B7ZLW1
    2. XM_054362028.1XP_054218003.1  calmodulin-regulated spectrin-associated protein 1 isoform X4

      UniProtKB/TrEMBL
      B7ZLW1
    3. XM_054362027.1XP_054218002.1  calmodulin-regulated spectrin-associated protein 1 isoform X3

      UniProtKB/TrEMBL
      B7ZLW1
    4. XM_054362026.1XP_054218001.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      B7ZLW1
    5. XM_054362023.1XP_054217998.1  calmodulin-regulated spectrin-associated protein 1 isoform X1

      UniProtKB/TrEMBL
      B7ZLW1
    6. XM_054362024.1XP_054217999.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      B7ZLW1
    7. XM_054362025.1XP_054218000.1  calmodulin-regulated spectrin-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      B7ZLW1