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    AEBP1 AE binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 165, updated on 1-Mar-2024

    Summary

    Official Symbol
    AEBP1provided by HGNC
    Official Full Name
    AE binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:303
    See related
    Ensembl:ENSG00000106624 MIM:602981; AllianceGenome:HGNC:303
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACLP
    Summary
    This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in gall bladder (RPKM 100.0), endometrium (RPKM 86.2) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AEBP1 in Genome Data Viewer
    Location:
    7p13
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (44104345..44114560)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (44259944..44273091)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44143944..44154159)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene drebrin like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25927 Neighboring gene phosphoglycerate mutase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25929 Neighboring gene microRNA 6838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44119156-44120063 Neighboring gene DNA polymerase mu Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:44121903-44122403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44140397-44140898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44140899-44141398 Neighboring gene microRNA 4649 Neighboring gene DNA polymerase delta 2, accessory subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44163329-44164233 Neighboring gene RNA, 5S ribosomal pseudogene 230

    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

    • FLJ33612

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peptide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of collagen fibril organization IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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.

    Genomic

    1. NG_056775.1 RefSeqGene

      Range
      5026..15241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001129.5NP_001120.3  adipocyte enhancer-binding protein 1 precursor

      See identical proteins and their annotated locations for NP_001120.3

      Status: REVIEWED

      Source sequence(s)
      AC006454, BC038588, DB213495
      Consensus CDS
      CCDS5476.1
      UniProtKB/Swiss-Prot
      Q14113, Q59ER7, Q6ZSC7, Q7KZ79, Q8IUX7
      Related
      ENSP00000223357.3, ENST00000223357.8
      Conserved Domains (4) summary
      cd03869
      Location:560903
      M14_CPX_like; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase X subgroup
      cd11308
      Location:907982
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
      smart00231
      Location:384540
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00057
      Location:386539
      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.

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      44104345..44114560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515162.2XP_011513464.1  adipocyte enhancer-binding protein 1 isoform X1

      Conserved Domains (4) summary
      cd03869
      Location:534877
      M14_CPX_like; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase X subgroup
      cd11308
      Location:881956
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
      smart00231
      Location:358514
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00057
      Location:360513
      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.

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      44259944..44273091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357374.1XP_054213349.1  adipocyte enhancer-binding protein 1 isoform X2

    2. XM_054357375.1XP_054213350.1  adipocyte enhancer-binding protein 1 isoform X1