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

Gene ID: 165, updated on 5-May-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
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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)

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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.

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