Aebp1 MGI Mouse Gene Detail - MGI:1197012

Symbol

Aebp1
Name

AE binding protein 1
Synonyms

ACLP

Feature Type

protein coding gene
IDs

MGI:1197012
NCBI Gene: 11568
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr11:5811947-5822088 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 3.88 cM
Mapping Data

2 experiments

SNPs within 2kb

271 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1197012	protein coding gene	Chr11:5806085-5822248 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018009	protein coding gene	Chr11:2947731-2957871 (+)
A/J	MGP_AJ_G0017982	protein coding gene	Chr11:2829923-2840063 (+)
AKR/J	MGP_AKRJ_G0017946	protein coding gene	Chr11:2981275-2991420 (+)
BALB/cJ	MGP_BALBcJ_G0017950	protein coding gene	Chr11:2824463-2834595 (+)
C3H/HeJ	MGP_C3HHeJ_G0017763	protein coding gene	Chr11:2854936-2865082 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018402	protein coding gene	Chr11:3027912-3038053 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016060	protein coding gene	Chr11:2729620-2739835 (+)
CAST/EiJ	MGP_CASTEiJ_G0017325	protein coding gene	Chr11:2820267-2832564 (+)
CBA/J	MGP_CBAJ_G0017738	protein coding gene	Chr11:3392217-3402363 (+)
DBA/2J	MGP_DBA2J_G0017848	protein coding gene	Chr11:2738231-2748377 (+)
FVB/NJ	MGP_FVBNJ_G0017840	protein coding gene	Chr11:2766790-2777916 (+)
LP/J	MGP_LPJ_G0017919	protein coding gene	Chr11:3026553-3036683 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017866	protein coding gene	Chr11:2988822-3004475 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018442	protein coding gene	Chr11:2985089-2996193 (+)
PWK/PhJ	MGP_PWKPhJ_G0017105	protein coding gene	Chr11:2756616-2772523 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016902	protein coding gene	Chr11:2949947-2960948 (+)
WSB/EiJ	MGP_WSBEiJ_G0017379	protein coding gene	Chr11:2821446-2837308 (+)

Human Ortholog

AEBP1, AE binding protein 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AEBP1, AE binding protein 1
Synonyms

ACLP
Links

HGNC:303

NCBI Gene ID: 165

neXtProt AC: NX_Q8IUX7

UniProt: Q8IUX7
Chr Location

7p13; chr7:44104345-44114562 (+) GRCh38

MGI Vertebrate Homology

Aebp1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AEBP1
Gene Tree

Aebp1

Diseases

1 with human AEBP1 associations

				Human Disease	Mouse Models
				Ehlers-Danlos syndrome classic-like 2 IDs Ehlers-Danlos syndrome classic-like 2 DOID:0080732 OMIM:618000

Click on a disease name to see all genes associated with that disease.

less

Phenotype Summary

35 phenotypes from 4 alleles in 4 genetic backgrounds
17 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

9
Endonuclease-mediated

2
Targeted

6
Transgenic

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

34 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for one null allele exhibit neonatal lethality, abdominal wall herniation, extrusion of the abdominal organs, and defects in wound healing. Mice homozygous for another null allele exhibit embryonic lethality, decreased white adipose tissue, and resistance to diet-induced obesity.

less

All GO Annotations

25
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

886
Tissues

157
cDNA Data

102
Literature Summary

10

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase aebp1

less

All Sequences

79
RefSeq

6
UniProt

1
CCDS

CCDS24406.1

Ensembl

ENSMUSG00000020473 (Evidence)
NCBI Gene

11568

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020473	Ensembl Gene Model \| MGI Sequence Detail	10142	C57BL/6J	± kb
transcript	ENSMUST00000102923	Ensembl \| MGI Sequence Detail	3831	Not Applicable
polypeptide	ENSMUSP00000099987	Ensembl \| MGI Sequence Detail	1128	Not Applicable

less

UniProt

1 Sequence
Protein Ontology

PR:000003797 adipocyte enhancer-binding protein 1

(term hierarchy)
InterPro Domains

IPR008969 Carboxypeptidase-like, regulatory domain superfamily

IPR000421 Coagulation factor 5/8 C-terminal domain

IPR008979 Galactose-binding-like domain superfamily

IPR000834 Peptidase M14, carboxypeptidase A

IPR050753 Peptidase M14 domain-containing protein
GlyGen

Q640N1 2 sites, 1 N-linked glycan (1 site)

less

All nucleic 104

cDNA 103

Primer pair 1

Microarray probesets 6

Summaries

All 59

Developmental Gene Expression 10

Gene Ontology 9

Phenotypes 17
Earliest

J:37008 He GP, et al., A eukaryotic transcriptional repressor with carboxypeptidase activity. Nature. 1995 Nov 2;378(6552):92-6
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Aebp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr100207	Chr11:5811868-5811879 (+)	-73 bp
Tssr100208	Chr11:5811886-5811966 (+)	-21 bp
Tssr100209	Chr11:5811976-5811989 (+)	36 bp
Tssr100210	Chr11:5813029-5813048 (+)	1,092 bp
Tssr100211	Chr11:5813978-5814003 (+)	2,044 bp
Tssr100212	Chr11:5814217-5814241 (+)	2,282 bp
Tssr100213	Chr11:5820551-5820562 (+)	8,610 bp
Tssr100214	Chr11:5821626-5821648 (+)	9,690 bp
Tssr100215	Chr11:5821771-5821782 (+)	9,830 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24