Ap1s1 MGI Mouse Gene Detail - MGI:1098244 - adaptor protein complex AP-1, sigma 1

Symbol

Ap1s1
Name

adaptor protein complex AP-1, sigma 1
Synonyms

AP19

Feature Type

protein coding gene
IDs

MGI:1098244
NCBI Gene: 11769
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr5:137063852-137074917 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 76.13 cM, cytoband G1
Mapping Data

3 experiments

SNPs within 2kb

346 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1098244	protein coding gene	Chr5:137063847-137074989 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0030215	protein coding gene	Chr5:141754864-141765966 (-)
A/J	MGP_AJ_G0030183	protein coding gene	Chr5:135608092-135619194 (-)
AKR/J	MGP_AKRJ_G0030116	protein coding gene	Chr5:139999686-140010736 (-)
BALB/cJ	MGP_BALBcJ_G0030193	protein coding gene	Chr5:136966932-136978033 (-)
C3H/HeJ	MGP_C3HHeJ_G0029909	protein coding gene	Chr5:140626438-140637538 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0030645	protein coding gene	Chr5:147023434-147034576 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027865	protein coding gene	Chr5:129877526-129888671 (-)
CAST/EiJ	MGP_CASTEiJ_G0029319	protein coding gene	Chr5:140040177-140051284 (-)
CBA/J	MGP_CBAJ_G0029879	protein coding gene	Chr5:152770912-152782014 (-)
DBA/2J	MGP_DBA2J_G0030030	protein coding gene	Chr5:135504113-135515216 (-)
FVB/NJ	MGP_FVBNJ_G0029985	protein coding gene	Chr5:134684303-134695405 (-)
LP/J	MGP_LPJ_G0030119	protein coding gene	Chr5:142183087-142194342 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030017	protein coding gene	Chr5:155667407-155678509 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030686	protein coding gene	Chr5:139832811-139843912 (-)
PWK/PhJ	MGP_PWKPhJ_G0029032	protein coding gene	Chr5:134594013-134605283 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0028868	protein coding gene	Chr5:137417780-137433241 (-)
WSB/EiJ	MGP_WSBEiJ_G0029392	protein coding gene	Chr5:140575477-140586490 (-)

Human Ortholog

AP1S1, adaptor related protein complex 1 subunit sigma 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AP1S1, adaptor related protein complex 1 subunit sigma 1
Synonyms

AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A
Links

HGNC:559

NCBI Gene ID: 1174

neXtProt AC: NX_P61966

UniProt: P61966
Chr Location

7q22.1; chr7:101154456-101161596 (+) GRCh38

MGI Vertebrate Homology

Ap1s1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AP1S1
Protein SuperFamily

AP_complex_sigma
Gene Tree

Ap1s1

Diseases

1 with human AP1S1 associations

				Human Disease	Mouse Models
				MEDNIK syndrome IDs MEDNIK syndrome DOID:0060483 OMIM:609313 ORDO:171851

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

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
123 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

19
Endonuclease-mediated

2
Gene trapped

12
Targeted

4
Transgenic

1
Genomic Mutations

1 involving Ap1s1
Incidental Mutations

APF
Find Mice (IMSR)

17 strains or lines available

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All GO Annotations

22
GO References

13

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

706
cDNA Data

135

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ap1s1

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All Sequences

50
RefSeq

6
UniProt

4
CCDS

CCDS39330.1

Ensembl

ENSMUSG00000004849 (Evidence)
NCBI Gene

11769

			Length	Strain/Species	Flank
genomic	11769	NCBI Gene Model \| MGI Sequence Detail	11066	C57BL/6J	± kb
transcript	NM_001420722	RefSeq \| MGI Sequence Detail	1822	C57BL/6
polypeptide	P61967	UniProt \| EBI \| MGI Sequence Detail	158	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004096 AP-1 complex subunit sigma-1A

(term hierarchy)
PDB

1W63
InterPro Domains

IPR016635 Adaptor protein complex, sigma subunit

IPR044733 AP-1 complex subunit sigma

IPR022775 AP complex, mu/sigma subunit

IPR000804 Clathrin adaptor complex, small chain

IPR011012 Longin-like domain superfamily

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All nucleic 135

cDNA 135

Microarray probesets 3

Summaries

All 158

Gene Ontology 13

Phenotypes 123
Earliest

J:43399 Kirchhausen T, et al., AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast. J Biol Chem. 1991 Jun 15;266(17):11153-7
Latest

J:354880 LaMarche NM, et al., An IL-4 signalling axis in bone marrow drives pro-tumorigenic myelopoiesis. Nature. 2024 Jan;625(7993):166-174

TSS for Ap1s1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr53887	Chr5:137074880-137074939 (-)	7 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 11/12/2024 MGI 6.24