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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulated AEBP1 and COLEC12 Genes in Late-Onset Alzheimer's Disease: Insights from Brain Cortex and Peripheral Blood Analysis.
Title: Dysregulated AEBP1 and COLEC12 Genes in Late-Onset Alzheimer's Disease: Insights from Brain Cortex and Peripheral Blood Analysis.
AEBP1 promotes papillary thyroid cancer progression by activating BMP4 signaling.
Title: AEBP1 promotes papillary thyroid cancer progression by activating BMP4 signaling.
Single-cell transcriptomics analysis of proliferative diabetic retinopathy fibrovascular membranes reveals AEBP1 as fibrogenesis modulator.
Title: Single-cell transcriptomics analysis of proliferative diabetic retinopathy fibrovascular membranes reveals AEBP1 as fibrogenesis modulator.
ACLP promotes activation of cancer-associated fibroblasts and tumor metastasis via ACLP-PPARgamma-ACLP feedback loop in pancreatic cancer.
Title: ACLP promotes activation of cancer-associated fibroblasts and tumor metastasis via ACLP-PPARγ-ACLP feedback loop in pancreatic cancer.
Resolving the intertwining of inflammation and fibrosis in human heart failure at single-cell level.
Title: Resolving the intertwining of inflammation and fibrosis in human heart failure at single-cell level.
AEBP1 Is One of the Epithelial-Mesenchymal Transition Regulatory Genes in Colon Adenocarcinoma.
Title: AEBP1 Is One of the Epithelial-Mesenchymal Transition Regulatory Genes in Colon Adenocarcinoma.
Molecular Characterization of AEBP1 at Transcriptional Level in Glioma.
Title: Molecular Characterization of AEBP1 at Transcriptional Level in Glioma.
Extracellular vesicle-derived AEBP1 mRNA as a novel candidate biomarker for diabetic kidney disease.
Title: Extracellular vesicle-derived AEBP1 mRNA as a novel candidate biomarker for diabetic kidney disease.
AEBP1 Promotes Glioblastoma Progression and Activates the Classical NF-kappaB Pathway.
Title: AEBP1 Promotes Glioblastoma Progression and Activates the Classical NF-κB Pathway.
Adipocyte enhancer binding protein 1 (AEBP1) knockdown suppresses human glioma cell proliferation, invasion and induces early apoptosis.
Title: Adipocyte enhancer binding protein 1 (AEBP1) knockdown suppresses human glioma cell proliferation, invasion and induces early apoptosis.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ehlers-Danlos syndrome, classic-like, 2 MedGen: C4693870 OMIM: 618000 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A006F20 (e-PCR)
- UniSTS:44548

RH71212 (e-PCR)
- UniSTS:10790

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables collagen binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables metallocarboxypeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

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

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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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

NG_056775.1 RefSeqGene

Range

5026..15241

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001129.5 → NP_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:560 → 903

M14_CPX_like; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase X subgroup

cd11308
Location:907 → 982

Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

smart00231
Location:384 → 540

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:386 → 539

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

44104345..44114560

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (4) summary

cd03869
Location:534 → 877

M14_CPX_like; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase X subgroup

cd11308
Location:881 → 956

Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

smart00231
Location:358 → 514

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:360 → 513

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.