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    Efcab6 EF-hand calcium binding domain 6 [ Mus musculus (house mouse) ]

    Gene ID: 77627, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Efcab6provided by MGI
    Official Full Name
    EF-hand calcium binding domain 6provided by MGI
    Primary source
    MGI:MGI:1924877
    See related
    Ensembl:ENSMUSG00000022441 AllianceGenome:MGI:1924877
    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
    mKIAA1672; bM150J22.2; 4931407K02Rik; 4932408N08Rik
    Summary
    Predicted to enable calcium ion binding activity. Involved in flagellated sperm motility. Is active in axonemal A tubule inner sheath and sperm flagellum. Is expressed in several structures, including central nervous system; reproductive system; respiratory system; and thymus. Orthologous to human EFCAB6 (EF-hand calcium binding domain 6). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 41.3) See more
    Orthologs
    human all
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    Genomic context

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    See Efcab6 in Genome Data Viewer
    Location:
    15 E1- E2; 15 39.48 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (83750913..83959226, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (83866712..84075025, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene metallophosphoesterase domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_39343 Neighboring gene predicted gene, 52172 Neighboring gene predicted gene, 41370 Neighboring gene STARR-seq mESC enhancer starr_39344 Neighboring gene predicted gene, 41372 Neighboring gene ribosomal protein L31, pseudogene 22 Neighboring gene sulfotransferase family 4A, member 1 Neighboring gene predicted gene, 46526 Neighboring gene patatin-like phospholipase domain containing 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. De novo protein identification in mammalian sperm using in situ cryoelectron tomography and AlphaFold2 docking. Chen Z, et al. Cell, 2023 Nov 9. PMID 37865089, Free PMC Article
    2. In-cell structural insight into the stability of sperm microtubule doublet. Tai L, et al. Cell Discov, 2023 Nov 21. PMID 37989994, Free PMC Article
    3. Structures of sperm flagellar doublet microtubules expand the genetic spectrum of male infertility. Zhou L, et al. Cell, 2023 Jun 22. PMID 37295417
    4. Plasticity in the Glucagon Interactome Reveals Novel Proteins That Regulate Glucagon Secretion in α-TC1-6 Cells. Asadi F, et al. Front Endocrinol (Lausanne), 2018. PMID 30713523, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1672

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in flagellated sperm motility IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    EF-hand calcium-binding domain-containing protein 6
    Names
    DJ-1-binding protein
    DJBP

    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_001161628.2 → NP_001155100.1  EF-hand calcium-binding domain-containing protein 6 isoform 2

      See identical proteins and their annotated locations for NP_001155100.1

      Status: VALIDATED

      Source sequence(s)
      AL513354
      UniProtKB/Swiss-Prot
      Q6P1E8
      Related
      ENSMUST00000143592.8
      Conserved Domains (5) summary
      COG5126
      Location:66 → 242
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:767 → 826
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam08976
      Location:489 → 593
      EF-hand_11; EF-hand domain
      pfam13499
      Location:766 → 826
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:660 → 705
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. NM_001161629.2 → NP_001155101.1  EF-hand calcium-binding domain-containing protein 6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL513354
      UniProtKB/Swiss-Prot
      Q6P1E8
      Related
      ENSMUST00000144169.8
      Conserved Domains (6) summary
      PTZ00184
      Location:179 → 294
      PTZ00184; calmodulin; Provisional
      cd00051
      Location:617 → 676
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam08976
      Location:339 → 443
      EF-hand_11; EF-hand domain
      pfam13499
      Location:616 → 676
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:364 → 417
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl20644
      Location:322 → 361
      DUF4976; Domain of unknown function (DUF4976)

    3. NM_029946.5 → NP_084222.4  EF-hand calcium-binding domain-containing protein 6 isoform 1

      See identical proteins and their annotated locations for NP_084222.4

      Status: VALIDATED

      Source sequence(s)
      AL513354, AL603867
      Consensus CDS
      CCDS27707.2
      UniProtKB/Swiss-Prot
      A6PW10, A6PW11, A6PW12, Q5DTV8, Q6P1E8, Q6PGK8, Q9D2D8
      Related
      ENSMUSP00000114909.2, ENSMUST00000156187.8
      Conserved Domains (6) summary
      PTZ00183
      Location:1344 → 1512
      PTZ00183; centrin; Provisional
      COG5126
      Location:99 → 265
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:874 → 902
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl28895
      Location:874 → 984
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      pfam08976
      Location:1177 → 1281
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1454 → 1514
      EF-hand_7; EF-hand domain pair

    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

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      83750913..83959226 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521531.2 → XP_006521594.2  EF-hand calcium-binding domain-containing protein 6 isoform X1

      Conserved Domains (8) summary
      PTZ00183
      Location:1364 → 1532
      PTZ00183; centrin; Provisional
      COG5126
      Location:119 → 285
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:894 → 922
      EFh_PI-PLC; EF-hand motif [structural motif]
      cd15897
      Location:787 → 823
      EFh_PEF; EF-hand motif [structural motif]
      cl28895
      Location:894 → 1004
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      cl25352
      Location:787 → 952
      EFh_PEF; The penta-EF hand (PEF) family
      pfam08976
      Location:1197 → 1301
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1474 → 1534
      EF-hand_7; EF-hand domain pair

    2. XM_036159627.1 → XP_036015520.1  EF-hand calcium-binding domain-containing protein 6 isoform X3

      UniProtKB/Swiss-Prot
      A6PW10, A6PW11, A6PW12, Q5DTV8, Q6P1E8, Q6PGK8, Q9D2D8
      Conserved Domains (6) summary
      PTZ00183
      Location:1344 → 1512
      PTZ00183; centrin; Provisional
      COG5126
      Location:99 → 265
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:874 → 902
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl28895
      Location:874 → 984
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      pfam08976
      Location:1177 → 1281
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1454 → 1514
      EF-hand_7; EF-hand domain pair

    3. XM_017316792.3 → XP_017172281.1  EF-hand calcium-binding domain-containing protein 6 isoform X4

      Conserved Domains (8) summary
      PTZ00183
      Location:1318 → 1486
      PTZ00183; centrin; Provisional
      COG5126
      Location:73 → 239
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:848 → 876
      EFh_PI-PLC; EF-hand motif [structural motif]
      cd15897
      Location:741 → 777
      EFh_PEF; EF-hand motif [structural motif]
      cl28895
      Location:848 → 958
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      cl25352
      Location:741 → 906
      EFh_PEF; The penta-EF hand (PEF) family
      pfam08976
      Location:1151 → 1255
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1428 → 1488
      EF-hand_7; EF-hand domain pair

    4. XM_036159629.1 → XP_036015522.1  EF-hand calcium-binding domain-containing protein 6 isoform X7

      Conserved Domains (7) summary
      PTZ00183
      Location:1145 → 1313
      PTZ00183; centrin; Provisional
      COG5126
      Location:119 → 282
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:675 → 703
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl28895
      Location:675 → 785
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      pfam08976
      Location:978 → 1082
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1255 → 1315
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:4 → 62
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    5. XM_036159628.1 → XP_036015521.1  EF-hand calcium-binding domain-containing protein 6 isoform X6

      Conserved Domains (7) summary
      PTZ00183
      Location:1146 → 1314
      PTZ00183; centrin; Provisional
      COG5126
      Location:120 → 283
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:676 → 704
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl28895
      Location:676 → 786
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      pfam08976
      Location:979 → 1083
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1256 → 1316
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:4 → 62
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    6. XM_017316791.2 → XP_017172280.1  EF-hand calcium-binding domain-containing protein 6 isoform X3

      UniProtKB/Swiss-Prot
      A6PW10, A6PW11, A6PW12, Q5DTV8, Q6P1E8, Q6PGK8, Q9D2D8
      Conserved Domains (6) summary
      PTZ00183
      Location:1344 → 1512
      PTZ00183; centrin; Provisional
      COG5126
      Location:99 → 265
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:874 → 902
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl28895
      Location:874 → 984
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      pfam08976
      Location:1177 → 1281
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1454 → 1514
      EF-hand_7; EF-hand domain pair

    7. XM_006521533.3 → XP_006521596.1  EF-hand calcium-binding domain-containing protein 6 isoform X3

      See identical proteins and their annotated locations for XP_006521596.1

      UniProtKB/Swiss-Prot
      A6PW10, A6PW11, A6PW12, Q5DTV8, Q6P1E8, Q6PGK8, Q9D2D8
      Conserved Domains (6) summary
      PTZ00183
      Location:1344 → 1512
      PTZ00183; centrin; Provisional
      COG5126
      Location:99 → 265
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:874 → 902
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl28895
      Location:874 → 984
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      pfam08976
      Location:1177 → 1281
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1454 → 1514
      EF-hand_7; EF-hand domain pair

    8. XM_017316793.3 → XP_017172282.1  EF-hand calcium-binding domain-containing protein 6 isoform X5

      Conserved Domains (9) summary
      PTZ00183
      Location:1230 → 1398
      PTZ00183; centrin; Provisional
      COG5126
      Location:2 → 151
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:760 → 788
      EFh_PI-PLC; EF-hand motif [structural motif]
      cd15897
      Location:653 → 689
      EFh_PEF; EF-hand motif [structural motif]
      cl28895
      Location:760 → 870
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      cl25352
      Location:653 → 818
      EFh_PEF; The penta-EF hand (PEF) family
      pfam08976
      Location:1063 → 1167
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1340 → 1400
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:88 → 146
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    9. XM_017316790.1 → XP_017172279.1  EF-hand calcium-binding domain-containing protein 6 isoform X2

      Conserved Domains (8) summary
      PTZ00183
      Location:1317 → 1485
      PTZ00183; centrin; Provisional
      COG5126
      Location:73 → 239
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:847 → 875
      EFh_PI-PLC; EF-hand motif [structural motif]
      cd15897
      Location:740 → 776
      EFh_PEF; EF-hand motif [structural motif]
      cl28895
      Location:847 → 957
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      cl25352
      Location:740 → 905
      EFh_PEF; The penta-EF hand (PEF) family
      pfam08976
      Location:1150 → 1254
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1427 → 1487
      EF-hand_7; EF-hand domain pair

    10. XM_036159630.1 → XP_036015523.1  EF-hand calcium-binding domain-containing protein 6 isoform X8

      Conserved Domains (6) summary
      PTZ00183
      Location:1081 → 1249
      PTZ00183; centrin; Provisional
      COG5126
      Location:55 → 218
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd15898
      Location:611 → 639
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl28895
      Location:611 → 721
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      pfam08976
      Location:914 → 1018
      EF-hand_11; EF-hand domain
      pfam13499
      Location:1191 → 1251
      EF-hand_7; EF-hand domain pair

    11. XM_036159631.1 → XP_036015524.1  EF-hand calcium-binding domain-containing protein 6 isoform X9

      Conserved Domains (5) summary
      PTZ00183
      Location:705 → 873
      PTZ00183; centrin; Provisional
      cd15898
      Location:235 → 263
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl28895
      Location:235 → 345
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      pfam08976
      Location:538 → 642
      EF-hand_11; EF-hand domain
      pfam13499
      Location:815 → 875
      EF-hand_7; EF-hand domain pair

    12. XM_017316795.3 → XP_017172284.1  EF-hand calcium-binding domain-containing protein 6 isoform X10

      Conserved Domains (7) summary
      PTZ00183
      Location:630 → 798
      PTZ00183; centrin; Provisional
      cd15898
      Location:160 → 188
      EFh_PI-PLC; EF-hand motif [structural motif]
      cd15897
      Location:53 → 89
      EFh_PEF; EF-hand motif [structural motif]
      cl28895
      Location:160 → 270
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
      cl25352
      Location:53 → 218
      EFh_PEF; The penta-EF hand (PEF) family
      pfam08976
      Location:463 → 567
      EF-hand_11; EF-hand domain
      pfam13499
      Location:740 → 800
      EF-hand_7; EF-hand domain pair
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1E8.2 GenPept UniProtKB/Swiss-Prot:Q6P1E8

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