Apbb1ip MGI Mouse Gene Detail - MGI:1861354 - amyloid beta precursor protein binding family B member 1 interacting protein

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Apbb1ip Gene Detail

Symbol

Apbb1ip
Name

amyloid beta precursor protein binding family B member 1 interacting protein
Synonyms

9930118P07Rik, proline-rich protein 48, Prp48

Feature Type

protein coding gene
IDs

MGI:1861354
NCBI Gene: 54519
Alliance

gene page
Transcription Start Sites

27 TSS

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Sequence Map

Chr2:22664106-22765665 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 15.15 cM, cytoband A3
Mapping Data

2 experiments

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SNPs within 2kb

3058 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1861354	protein coding gene	Chr2:22645983-22765671 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025392	protein coding gene	Chr2:20505829-20611852 (+)
A/J	MGP_AJ_G0025370	protein coding gene	Chr2:19668159-19766363 (+)
AKR/J	MGP_AKRJ_G0025339	protein coding gene	Chr2:20380722-20483553 (+)
BALB/cJ	MGP_BALBcJ_G0025365	protein coding gene	Chr2:19782394-19880688 (+)
C3H/HeJ	MGP_C3HHeJ_G0025126	protein coding gene	Chr2:20282845-20387792 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025809	protein coding gene	Chr2:21103522-21208603 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023223	protein coding gene	Chr2:18767940-18866637 (+)
CAST/EiJ	MGP_CASTEiJ_G0024589	protein coding gene	Chr2:20194237-20305668 (+)
CBA/J	MGP_CBAJ_G0025104	protein coding gene	Chr2:21903237-22012401 (+)
DBA/2J	MGP_DBA2J_G0025237	protein coding gene	Chr2:19569865-19671739 (+)
FVB/NJ	MGP_FVBNJ_G0025199	protein coding gene	Chr2:19357168-19457168 (+)
LP/J	MGP_LPJ_G0025323	protein coding gene	Chr2:20443367-20547809 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025230	protein coding gene	Chr2:21945146-22059958 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025868	protein coding gene	Chr2:20256371-20359325 (+)
PWK/PhJ	MGP_PWKPhJ_G0024338	protein coding gene	Chr2:19385548-19485143 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024138	protein coding gene	Chr2:20378362-20488344 (+)
WSB/EiJ	MGP_WSBEiJ_G0024659	protein coding gene	Chr2:20389670-20510096 (+)

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Human Ortholog

APBB1IP, amyloid beta precursor protein binding family B member 1 interacting protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

APBB1IP, amyloid beta precursor protein binding family B member 1 interacting protein
Synonyms

INAG1, PREL1, RARP1, RIAM
Links

HGNC:17379

NCBI Gene ID: 54518

neXtProt AC: NX_Q7Z5R6

UniProt: Q7Z5R6
Chr Location

10p12.1; chr10:26438341-26567803 (+) GRCh38

MGI Vertebrate Homology

Apbb1ip stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: APBB1IP
Gene Tree

Apbb1ip

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Phenotype Summary

20 phenotypes from 2 alleles in 2 genetic backgrounds
17 phenotype references

Phenotype Overview

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

10
Endonuclease-mediated

4
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

43 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele are viable, fertile and healthy with no apparent defects in platelet integrin activation and function, hemostasis, or arterial thrombus formation.

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All GO Annotations

16
GO References

7

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.

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Expression Overview

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

756
Tissues

13
cDNA Data

24
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase apbb1ip

ZFIN apbb1ip

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All Sequences

49
RefSeq

6
UniProt

4
CCDS

CCDS38056.1

Ensembl

ENSMUSG00000026786 (Evidence)
NCBI Gene

54519

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000026786	Ensembl Gene Model \| MGI Sequence Detail	101560	C57BL/6J	± kb
	transcript	ENSMUST00000014290	Ensembl \| MGI Sequence Detail	2773	Not Applicable
	polypeptide	ENSMUSP00000014290	Ensembl \| MGI Sequence Detail	670	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004119 amyloid beta A4 precursor protein-binding family B member 1-interacting protein

(term hierarchy)
PDB

3TCA, 4KVG, 4W8P, 6E31, 6O6H, 6OLU, 7V1A
InterPro Domains

IPR039665 APBB1IP, PH domain

IPR039664 GRB/APBB1IP

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR000159 Ras-associating domain

IPR029071 Ubiquitin-like domain superfamily

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All nucleic 25

cDNA 25

Microarray probesets 4

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MGI:2442489

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Summaries

All 46

Developmental Gene Expression 2

Gene Ontology 7

Phenotypes 17
Earliest

J:44866 Ermekova KS, et al., The WW domain of neural protein FE65 interacts with proline-rich motifs in Mena, the mammalian homolog of Drosophila enabled. J Biol Chem. 1997 Dec 26;272(52):32869-77
Latest

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

TSS for Apbb1ip:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr16495	Chr2:22663956-22663967 (+)	-144 bp
Tssr16496	Chr2:22663982-22663998 (+)	-116 bp
Tssr16497	Chr2:22664031-22664054 (+)	-63 bp
Tssr16498	Chr2:22664063-22664084 (+)	-32 bp
Tssr16499	Chr2:22664093-22664108 (+)	-5 bp
Tssr16500	Chr2:22664294-22664310 (+)	196 bp
Tssr16501	Chr2:22664329-22664349 (+)	233 bp
Tssr16502	Chr2:22664350-22664382 (+)	260 bp
Tssr16503	Chr2:22664385-22664436 (+)	305 bp
Tssr16504	Chr2:22664444-22664484 (+)	358 bp
Tssr16505	Chr2:22664486-22664493 (+)	384 bp
Tssr16506	Chr2:22669544-22669617 (+)	5,475 bp
Tssr16507	Chr2:22669928-22669946 (+)	5,831 bp
Tssr16508	Chr2:22675711-22675713 (+)	11,606 bp
Tssr16509	Chr2:22689623-22689657 (+)	25,534 bp
Tssr16510	Chr2:22694639-22694651 (+)	30,539 bp
Tssr16511	Chr2:22694655-22694668 (+)	30,556 bp
Tssr16512	Chr2:22694757-22694780 (+)	30,663 bp
Tssr16513	Chr2:22706530-22706548 (+)	42,433 bp
Tssr16514	Chr2:22713441-22713453 (+)	49,341 bp
Tssr16515	Chr2:22713517-22713550 (+)	49,428 bp
Tssr16516	Chr2:22724314-22724354 (+)	60,228 bp
Tssr16517	Chr2:22743155-22743173 (+)	79,058 bp
Tssr16518	Chr2:22745187-22745216 (+)	81,096 bp
Tssr16519	Chr2:22750753-22750761 (+)	86,651 bp
Tssr16520	Chr2:22759389-22759393 (+)	95,285 bp
Tssr16521	Chr2:22764852-22764864 (+)	100,752 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)
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