Ap4b1 MGI Mouse Gene Detail - MGI:1337130 - adaptor-related protein complex AP-4, beta 1

Symbol

Ap4b1
Name

adaptor-related protein complex AP-4, beta 1
Synonyms

1810038H16Rik, AP-4 beta-4

Feature Type

protein coding gene
IDs

MGI:1337130
NCBI Gene: 67489
Alliance

genome feature page

Sequence Map

Chr3:103716836-103729341 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 45.52 cM
Mapping Data

4 experiments

SNPs within 2kb

167 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1337130	protein coding gene	Chr3:103716375-103729341 (+)
129S1/SvImJ	ENSMUSG00200043907	protein coding gene	Chr3:100324843-100337406 (+)
A/J	ENSMUSG00195045914	protein coding gene	Chr3:100738380-100750945 (+)
AKR/J	ENSMUSG00220035892	protein coding gene	Chr3:99098327-99110914 (+)
BALB/cJ	ENSMUSG00180035533	protein coding gene	Chr3:100666521-100679026 (+)
C3H/HeJ	ENSMUSG00175023178	protein coding gene	Chr3:100220718-100233283 (+)
C57BL/6NJ	ENSMUSG00215016934	protein coding gene	Chr3:100986740-100999247 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025455	protein coding gene	Chr3:97880741-97893028 (+)
CAST/EiJ	ENSTCUG00005019679	protein coding gene	Chr3:100945257-100957786 (+)
CBA/J	ENSMUSG00210050734	protein coding gene	Chr3:100842733-100855298 (+)
DBA/2J	ENSMUSG00185019968	protein coding gene	Chr3:101322906-101335412 (+)
FVB/NJ	ENSMUSG00205023033	protein coding gene	Chr3:99903396-99915975 (+)
JF1/MsJ	ENSUMUG00000035763	protein coding gene	Chr3:100064385-100077124 (+)
LP/J	ENSMUSG00230015080	protein coding gene	Chr3:103253179-103265742 (+)
NOD/ShiLtJ	ENSMUSG00190043149	protein coding gene	Chr3:101518543-101531048 (+)
NZO/HlLtJ	ENSMUSG00225017914	protein coding gene	Chr3:105720270-105732775 (+)
PWK/PhJ	ENSLUMG00010026028	protein coding gene	Chr3:100128656-100141306 (+)
SPRET/EiJ	ENSMSPG00010039416	protein coding gene	Chr3:100355322-100367922 (+)
WSB/EiJ	ENSIUOG00005030606	protein coding gene	Chr3:100858024-100870530 (+)

Human Ortholog

AP4B1, adaptor related protein complex 4 subunit beta 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AP4B1, adaptor related protein complex 4 subunit beta 1
Synonyms

BETA-4, CPSQ5, SPG47
Links

HGNC:572

NCBI Gene ID: 10717

UniProt: Q9Y6B7
Chr Location

1p13.2; chr1:113894194-113905722 (-) GRCh38

MGI Vertebrate Homology

Ap4b1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AP4B1
Protein SuperFamily

AP_complex_beta
Gene Tree

Ap4b1

Diseases

1 with human AP4B1 associations

				Human Disease	Mouse Models
				hereditary spastic paraplegia 47 IDs hereditary spastic paraplegia 47 DOID:0110799 OMIM:614066 ORDO:280763

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

References

1 with disease annotations

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
1 phenotype from multigenic genotypes
11 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
Chemically induced (other)

1
Endonuclease-mediated

5
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Ap4b1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

34 strains or lines available

Mice homozygous for a null allele exhibit poor rotarod performance.

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All GO Annotations

33
GO References

10

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

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

603
Tissues

3
cDNA Data

41
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ap4b1

ZFIN ap4b1

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All Sequences

70
RefSeq

15
UniProt

6
CCDS

CCDS17696.1, CCDS51026.1

Ensembl

ENSMUSG00000032952 (Evidence)
NCBI Gene

67489

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032952	Ensembl Gene Model \| MGI Sequence Detail	12506	C57BL/6J	± kb
transcript	ENSMUST00000047285	Ensembl \| MGI Sequence Detail	2799	Not Applicable
polypeptide	ENSMUSP00000044262	Ensembl \| MGI Sequence Detail	738	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004111 AP-4 complex subunit beta-1

(term hierarchy)

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All nucleic 41

cDNA 41

Antibodies 1

Microarray probesets 4

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MGI:1914739, MGI:2139923

Summaries

All 45

Developmental Gene Expression 2

Diseases 1

Gene Ontology 10

Phenotypes 11
Earliest

J:48443 Odorizzi G, et al., The AP-3 complex: a coat of many colours. Trends Cell Biol. 1998 Jul;8(7):282-8
Latest

J:358436 Wiseman JP, et al., Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47. EMBO Mol Med. 2024 Nov;16(11):2882-2917

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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