Asap1 MGI Mouse Gene Detail - MGI:1342335 - ArfGAP with SH3 domain, ankyrin repeat and PH domain1

Symbol

Asap1
Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain1
Synonyms

Ddef1, mKIAA1249

Feature Type

protein coding gene
IDs

MGI:1342335
NCBI Gene: 13196
Alliance

gene page
Transcription Start Sites

23 TSS

Sequence Map

Chr15:63958706-64254768 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 28.55 cM, cytoband D3
Mapping Data

2 experiments

SNPs within 2kb

9365 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1342335	protein coding gene	Chr15:63958704-64254922 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0021896	protein coding gene	Chr15:63557005-63868746 (-)
A/J	MGP_AJ_G0021855	protein coding gene	Chr15:61090109-61394144 (-)
AKR/J	MGP_AKRJ_G0021837	protein coding gene	Chr15:62783953-63088061 (-)
BALB/cJ	MGP_BALBcJ_G0021862	protein coding gene	Chr15:61312097-61611576 (-)
C3H/HeJ	MGP_C3HHeJ_G0021636	protein coding gene	Chr15:62946927-63261290 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0022301	protein coding gene	Chr15:66020075-66332488 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019840	protein coding gene	Chr15:58001948-58292917 (-)
CAST/EiJ	MGP_CASTEiJ_G0021154	protein coding gene	Chr15:63610389-63923217 (-)
CBA/J	MGP_CBAJ_G0021602	protein coding gene	Chr15:68249341-68571018 (-)
DBA/2J	MGP_DBA2J_G0021726	protein coding gene	Chr15:60922659-61220735 (-)
FVB/NJ	MGP_FVBNJ_G0021708	protein coding gene	Chr15:59964406-60262724 (-)
LP/J	MGP_LPJ_G0021798	protein coding gene	Chr15:63436250-63732952 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021731	protein coding gene	Chr15:73240507-73560547 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022323	protein coding gene	Chr15:63207326-63513696 (-)
PWK/PhJ	MGP_PWKPhJ_G0020896	protein coding gene	Chr15:61024890-61327461 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0020737	protein coding gene	Chr15:63018262-63328183 (-)
WSB/EiJ	MGP_WSBEiJ_G0021206	protein coding gene	Chr15:63186977-63499852 (-)

Human Ortholog

ASAP1, ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ASAP1, ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
Synonyms

AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P
Links

HGNC:2720

NCBI Gene ID: 50807

neXtProt AC: NX_Q9ULH1

UniProt: Q9ULH1
Chr Location

8q24.21-q24.22; chr8:130052104-130443674 (-) GRCh38

MGI Vertebrate Homology

Asap1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ASAP1
Gene Tree

Asap1

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References

1 with disease annotations

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Phenotype Summary

36 phenotypes from 2 alleles in 2 genetic backgrounds
38 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

29
Chemically induced (other)

3
Endonuclease-mediated

2
Gene trapped

16
Radiation induced

2
Targeted

4
Transposon induced

2
Genomic Mutations

7 involving Asap1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

60 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts.

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All GO Annotations

40
GO References

12

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

807
Tissues

63
cDNA Data

27
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase asap1

ZFIN asap1a, asap1b

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All Sequences

135
RefSeq

38
UniProt

12
CCDS

CCDS56986.1, CCDS70631.1, CCDS70632.1, CCDS70633.1, CCDS70634.1

Ensembl

ENSMUSG00000022377 (Evidence)
NCBI Gene

13196

			Length	Strain/Species	Flank
genomic	ENSMUSG00000022377	Ensembl Gene Model \| MGI Sequence Detail	296063	C57BL/6J	± kb
transcript	ENSMUST00000177374	Ensembl \| MGI Sequence Detail	4582	Not Applicable
polypeptide	ENSMUSP00000134825	Ensembl \| MGI Sequence Detail	1147	Not Applicable

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UniProt

12 Sequences
Protein Ontology

PR:000004338 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1

(term hierarchy)
PDB

5C6R, 5C79, 8HLO
InterPro Domains

IPR027267 AH/BAR domain superfamily

IPR002110 Ankyrin repeat

IPR036770 Ankyrin repeat-containing domain superfamily

IPR038508 ArfGAP domain superfamily

IPR037278 ARFGAP/RecO-like zinc finger

IPR043593 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein

IPR001164 Arf GTPase activating protein

IPR037928 ASAP1, BAR domain

IPR038016 ASAP1, SH3 domain

IPR037844 ASAP, PH domain

IPR004148 BAR domain

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily
GlyGen

Q9QWY8 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 31

Genomic 2

cDNA 27

Primer pair 2

Microarray probesets 4

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MGI:1333872, MGI:2146172

Summaries

All 78

Developmental Gene Expression 9

Diseases 1

Gene Ontology 12

Phenotypes 38
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

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

TSS for Asap1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr134544	Chr15:64254925-64254936 (-)	-163 bp
Tssr134543	Chr15:64254888-64254918 (-)	-135 bp
Tssr134542	Chr15:64254872-64254884 (-)	-110 bp
Tssr134541	Chr15:64254786-64254807 (-)	-29 bp
Tssr134540	Chr15:64254757-64254785 (-)	-3 bp
Tssr134539	Chr15:64254585-64254694 (-)	128 bp
Tssr134538	Chr15:64184642-64184663 (-)	70,115 bp
Tssr134537	Chr15:64184485-64184541 (-)	70,255 bp
Tssr134536	Chr15:64184453-64184479 (-)	70,302 bp
Tssr134535	Chr15:64184395-64184433 (-)	70,354 bp
Tssr134534	Chr15:64184362-64184388 (-)	70,393 bp
Tssr134533	Chr15:64184341-64184357 (-)	70,419 bp
Tssr134532	Chr15:64176845-64176867 (-)	77,912 bp
Tssr134531	Chr15:64176801-64176819 (-)	77,958 bp
Tssr134530	Chr15:64175031-64175036 (-)	79,734 bp
Tssr134529	Chr15:64157137-64157145 (-)	97,627 bp
Tssr134528	Chr15:64114539-64114547 (-)	140,225 bp
Tssr134527	Chr15:64054272-64054277 (-)	200,493 bp
Tssr134526	Chr15:64028108-64028113 (-)	226,657 bp
Tssr134525	Chr15:64007652-64007655 (-)	247,114 bp
Tssr134524	Chr15:64005096-64005113 (-)	249,663 bp
Tssr134523	Chr15:63982837-63982852 (-)	271,923 bp
Tssr134522	Chr15:63967188-63967190 (-)	287,579 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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