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    Aebp1 AE binding protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 11568, updated on 9-Dec-2024

    Summary

    Official Symbol
    Aebp1provided by MGI
    Official Full Name
    AE binding protein 1provided by MGI
    Primary source
    MGI:MGI:1197012
    See related
    Ensembl:ENSMUSG00000020473 AllianceGenome:MGI:1197012
    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
    ACLP
    Summary
    Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity and carboxypeptidase activity. Acts upstream of or within regulation of DNA-templated transcription. Located in extracellular space. Is expressed in several structures, including alimentary system; cardiovascular system; embryo mesenchyme; genitourinary system; and skeleton. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome classic-like 2. Orthologous to human AEBP1 (AE binding protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in adrenal adult (RPKM 317.6), ovary adult (RPKM 195.5) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Aebp1 in Genome Data Viewer
    Location:
    11 A1; 11 3.88 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (5806085..5822248)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (5861866..5872248)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene phosphoglycerate mutase 2 Neighboring gene STARR-positive B cell enhancer ABC_E9815 Neighboring gene polymerase (DNA directed), mu Neighboring gene STARR-seq mESC enhancer starr_28443 Neighboring gene STARR-positive B cell enhancer ABC_E6946 Neighboring gene polymerase (DNA directed), delta 2, regulatory subunit Neighboring gene predicted gene, 53664 Neighboring gene myosin, light polypeptide 7, regulatory

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (5)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    NOT involved_in peptide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of collagen fibril organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    adipocyte enhancer-binding protein 1
    Names
    aortic carboxypeptidase-like 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_001291857.2NP_001278786.1  adipocyte enhancer-binding protein 1 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI322823, AK159774, AL627069, BY309657
      UniProtKB/Swiss-Prot
      Q640N1
      Conserved Domains (4) summary
      cd03869
      Location:552895
      M14_CPX_like; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase X subgroup
      cd11308
      Location:899974
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
      smart00231
      Location:376532
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00057
      Location:378531
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
    2. NM_009636.3NP_033766.2  adipocyte enhancer-binding protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_033766.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AA162039, AI322823, BC082577, BY309657
      Consensus CDS
      CCDS24406.1
      UniProtKB/Swiss-Prot
      O88442, Q3TVV5, Q3TWA7, Q3TX56, Q3TXB2, Q5NCI9, Q61281, Q640N1
      Related
      ENSMUSP00000099987.4, ENSMUST00000102923.10
      Conserved Domains (3) summary
      cd11308
      Location:898973
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
      cd00057
      Location:377530
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cl11393
      Location:555894
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

    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
      5806085..5822248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036156244.1XP_036012137.1  adipocyte enhancer-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      O88442, Q3TVV5, Q3TWA7, Q3TX56, Q3TXB2, Q5NCI9, Q61281, Q640N1
      Conserved Domains (3) summary
      cd11308
      Location:898973
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
      cd00057
      Location:377530
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cl11393
      Location:555894
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins