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Specc1 sperm antigen with calponin homology and coiled-coil domains 1 [ Mus musculus (house mouse) ]

Gene ID: 432572, updated on 9-Dec-2024

Summary

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Official Symbol
Specc1provided by MGI
Official Full Name
sperm antigen with calponin homology and coiled-coil domains 1provided by MGI
Primary source
MGI:MGI:2442356
See related
Ensembl:ENSMUSG00000042331 AllianceGenome:MGI:2442356
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
Cytsb; 2810012G08Rik; B230396K10Rik
Summary
Acts upstream of or within associative learning and blastocyst development. Located in apical part of cell; cytoplasm; and nucleus. Is expressed in aorta; liver; molar; and ventricular layer. Orthologous to human SPECC1 (sperm antigen with calponin homology and coiled-coil domains 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Broad expression in cerebellum adult (RPKM 11.0), liver E14.5 (RPKM 7.8) and 23 other tissues See more
Orthologs
human all
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Genomic context

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See Specc1 in Genome Data Viewer
Location:
11 B2; 11 37.96 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (61847589..62113839)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (61956763..62223013)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 23721 Neighboring gene predicted gene 12273 Neighboring gene endothelial differentiation-related factor 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_29691 Neighboring gene surfeit gene 1 pseudogene Neighboring gene predicted gene, 39988 Neighboring gene STARR-seq mESC enhancer starr_29694 Neighboring gene predicted gene, 39985 Neighboring gene STARR-seq mESC enhancer starr_29695 Neighboring gene STARR-seq mESC enhancer starr_29696 Neighboring gene adenosine A2b receptor Neighboring gene STARR-positive B cell enhancer ABC_E9139 Neighboring gene zinc finger SWIM-type containing 7

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. m(6)A modification of circSPECC1 suppresses RPE oxidative damage and maintains retinal homeostasis. Chen X, et al. Cell Rep, 2022 Nov 15. PMID 36384115
  2. High-throughput phenotyping of avoidance learning in mice discriminates different genotypes and identifies a novel gene. Maroteaux G, et al. Genes Brain Behav, 2012 Oct. PMID 22846151, Free PMC Article
  3. Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity. Zheleznyakova GY, et al. Eur J Hum Genet, 2013 Sep. PMID 23299920, Free PMC Article
  4. Expression patterns and biological function of Specc1 during mouse preimplantation development. Lee S, et al. Gene Expr Patterns, 2021 Sep. PMID 34166821
  5. Identification of novel Ack1-interacting proteins and Ack1 phosphorylated sites in mouse brain by mass spectrometry. Del Mar Masdeu M, et al. Oncotarget, 2017 Nov 24. PMID 29254152, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. m[6]A modification of circSPECC1 suppresses RPE oxidative damage and maintains retinal homeostasis.
    Title: m(6)A modification of circSPECC1 suppresses RPE oxidative damage and maintains retinal homeostasis.
  2. Specc1 mutant showes profound and specific delay in avoidance learning.
    Title: High-throughput phenotyping of avoidance learning in mice discriminates different genotypes and identifies a novel gene.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA4061

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within associative learning IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within blastocyst development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in apical part of cell IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in fibrillar center IEA
Inferred from Electronic Annotation
more info
  
located_in fibrillar center ISO
Inferred from Sequence Orthology
more info
  
part_of filamentous actin IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in microtubule organizing center 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
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
cytospin-B
Names
spectrin domain with coiled-coils 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)

  1. NM_001029936.3 → NP_001025107.1  cytospin-B isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks two 5' coding exons, compared to variant 1. It represents use of an internal promoter and initiates translation at an alternate start codon. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL592080, AL596110
    Consensus CDS
    CCDS78966.1
    UniProtKB/Swiss-Prot
    Q5DTQ5, Q5SXY0, Q5SXY1, Q8BKR3, Q8BL39
    UniProtKB/TrEMBL
    A0A0J9YUR2
    Related
    ENSMUSP00000144300.2, ENSMUST00000202179.2
    Conserved Domains (3) summary
    cd00014
    Location:876 → 976
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    pfam15290
    Location:41 → 218
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp
    cl09111
    Location:556 → 651
    Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

  2. NM_001281818.1 → NP_001268747.1  cytospin-B isoform 1

    See identical proteins and their annotated locations for NP_001268747.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK143663, AL592080, AL596110
    Consensus CDS
    CCDS78965.1
    UniProtKB/Swiss-Prot
    Q5DTQ5, Q5SXY0, Q5SXY1, Q8BKR3, Q8BL39
    UniProtKB/TrEMBL
    A0A0J9YTU3
    Related
    ENSMUSP00000144055.2, ENSMUST00000202389.4
    Conserved Domains (4) summary
    PRK00409
    Location:683 → 783
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    TIGR02168
    Location:358 → 726
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:955 → 1058
    CH; Calponin homology (CH) domain
    pfam09726
    Location:198 → 504
    Macoilin; Macoilin family

  3. NM_001310526.1 → NP_001297455.1  cytospin-B isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK143663, AL592080, BF456202, CB722803, CF532211
    Consensus CDS
    CCDS78964.1
    UniProtKB/TrEMBL
    A0A0J9YUF8, A0A0J9YV86
    Related
    ENSMUSP00000144161.2, ENSMUST00000202178.4
    Conserved Domains (2) summary
    TIGR02168
    Location:358 → 726
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam09726
    Location:198 → 504
    Macoilin; Macoilin family

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_000077.7 Reference GRCm39 C57BL/6J

    Range
    61847589..62113839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006533656.4 → XP_006533719.1  cytospin-B isoform X2

    See identical proteins and their annotated locations for XP_006533719.1

    UniProtKB/Swiss-Prot
    Q5DTQ5, Q5SXY0, Q5SXY1, Q8BKR3, Q8BL39
    UniProtKB/TrEMBL
    A0A0J9YTU3
    Related
    ENSMUSP00000143853.2, ENSMUST00000201364.4
    Conserved Domains (4) summary
    PRK00409
    Location:683 → 783
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    TIGR02168
    Location:358 → 726
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:955 → 1058
    CH; Calponin homology (CH) domain
    pfam09726
    Location:198 → 504
    Macoilin; Macoilin family

  2. XM_030246110.2 → XP_030101970.1  cytospin-B isoform X4

    UniProtKB/TrEMBL
    A0A0J9YUF8, A0A0J9YV86
    Related
    ENSMUSP00000063102.8, ENSMUST00000049836.14
    Conserved Domains (2) summary
    TIGR02168
    Location:358 → 726
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam09726
    Location:198 → 504
    Macoilin; Macoilin family

  3. XM_030246108.1 → XP_030101968.1  cytospin-B isoform X1

    UniProtKB/Swiss-Prot
    Q5DTQ5, Q5SXY0, Q5SXY1, Q8BKR3, Q8BL39
    Conserved Domains (5) summary
    PHA03307
    Location:36 → 151
    PHA03307; transcriptional regulator ICP4; Provisional
    COG1196
    Location:165 → 533
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK00409
    Location:697 → 797
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    TIGR02168
    Location:372 → 740
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:969 → 1072
    CH; Calponin homology (CH) domain

  4. XM_030246109.1 → XP_030101969.1  cytospin-B isoform X3

    UniProtKB/TrEMBL
    A0A0J9YV86
    Conserved Domains (3) summary
    PHA03307
    Location:36 → 151
    PHA03307; transcriptional regulator ICP4; Provisional
    TIGR02168
    Location:372 → 740
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam09726
    Location:212 → 518
    Macoilin; Macoilin family

  5. XM_017314640.2 → XP_017170129.1  cytospin-B isoform X5

    UniProtKB/TrEMBL
    A0A0J9YV86
    Related
    ENSMUSP00000144542.2, ENSMUST00000201723.4
    Conserved Domains (3) summary
    TIGR02168
    Location:278 → 646
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04211
    Location:83 → 179
    SH3_and_anchor; SH3 domain protein
    cl15483
    Location:201 → 347
    Hid1; High-temperature-induced dauer-formation protein

  6. XM_036156821.1 → XP_036012714.1  cytospin-B isoform X6

    UniProtKB/TrEMBL
    A0A0J9YUG8
    Related
    ENSMUSP00000144174.2, ENSMUST00000201015.4
    Conserved Domains (2) summary
    COG1196
    Location:15 → 168
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cl00030
    Location:325 → 436
    CH_SF; calponin homology (CH) domain superfamily
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5SXY1.2 GenPept UniProtKB/Swiss-Prot:Q5SXY1

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