Ascc3 MGI Mouse Gene Detail - MGI:1925237 - activating signal cointegrator 1 complex subunit 3

Symbol

Ascc3
Name

activating signal cointegrator 1 complex subunit 3
Synonyms

ASC1p200, B630009I04Rik, Helic1

Feature Type

protein coding gene
IDs

MGI:1925237
NCBI Gene: 77987
Alliance

gene page
Transcription Start Sites

13 TSS

Sequence Map

Chr10:50468756-50727300 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 24.87 cM
Mapping Data

1 experiment

SNPs within 2kb

5441 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1925237	protein coding gene	Chr10:50468756-50727581 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017212	protein coding gene	Chr10:49661810-49944870 (+)
A/J	MGP_AJ_G0017188	protein coding gene	Chr10:48189247-48453333 (+)
AKR/J	MGP_AKRJ_G0017147	protein coding gene	Chr10:49114155-49372162 (+)
BALB/cJ	MGP_BALBcJ_G0017149	protein coding gene	Chr10:48341302-48603216 (+)
C3H/HeJ	MGP_C3HHeJ_G0016973	protein coding gene	Chr10:49366712-49634863 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017607	protein coding gene	Chr10:51228965-51509190 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015302	protein coding gene	Chr10:45642571-45911340 (+)
CAST/EiJ	MGP_CASTEiJ_G0016547	protein coding gene	Chr10:49519543-49794713 (+)
CBA/J	MGP_CBAJ_G0016944	protein coding gene	Chr10:53500130-53792341 (+)
DBA/2J	MGP_DBA2J_G0017049	protein coding gene	Chr10:47652525-47911086 (+)
FVB/NJ	MGP_FVBNJ_G0017043	protein coding gene	Chr10:47020775-47269330 (+)
LP/J	MGP_LPJ_G0017124	protein coding gene	Chr10:49692610-49980602 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017072	protein coding gene	Chr10:55279913-55591970 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017643	protein coding gene	Chr10:49075511-49341460 (+)
PWK/PhJ	MGP_PWKPhJ_G0016326	protein coding gene	Chr10:47492392-47760536 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016111	protein coding gene	Chr10:48667555-48946479 (+)
WSB/EiJ	MGP_WSBEiJ_G0016610	protein coding gene	Chr10:49286673-49556219 (+)

Human Ortholog

ASCC3, activating signal cointegrator 1 complex subunit 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ASCC3, activating signal cointegrator 1 complex subunit 3
Synonyms

ASC1p200, HELIC1, MRT81, RNAH
Links

HGNC:18697

NCBI Gene ID: 10973

neXtProt AC: NX_Q8N3C0

UniProt: Q8N3C0
Chr Location

6q16.3; chr6:100508194-100881372 (-) GRCh38

MGI Vertebrate Homology

Ascc3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ASCC3
Protein SuperFamily

BRR2
Gene Tree

Ascc3

Diseases

1 with human ASCC3 associations

				Human Disease	Mouse Models
				autosomal recessive intellectual developmental disorder IDs autosomal recessive intellectual developmental disorder DOID:0060308 OMIM:PS249500 ORDO:88616

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

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Phenotype Summary

4 phenotypes from 2 alleles in 2 genetic backgrounds
14 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

20
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

14
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Ascc3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

132 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

41
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

714
Tissues

2
cDNA Data

59
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ascc3

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All Sequences

51
RefSeq

6
UniProt

4
CCDS

CCDS48555.1

Ensembl

ENSMUSG00000038774 (Evidence)
NCBI Gene

77987

			Length	Strain/Species	Flank
genomic	77987	NCBI Gene Model \| MGI Sequence Detail	258545	C57BL/6J	± kb
transcript	NM_198007	RefSeq \| MGI Sequence Detail	7477	C57BL/6
polypeptide	E9PZJ8	UniProt \| EBI \| MGI Sequence Detail	2198	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004361 activating signal cointegrator 1 complex subunit 3

(term hierarchy)
EC

3.6.4.12
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR035892 C2 domain superfamily

IPR011545 DEAD/DEAH box helicase domain

IPR001650 Helicase, C-terminal domain-like

IPR050474 Helicase Hel308/SKI2

IPR014001 Helicase superfamily 1/2, ATP-binding domain

IPR014756 Immunoglobulin E-set

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR004179 Sec63 domain

IPR036390 Winged helix DNA-binding domain superfamily

IPR036388 Winged helix-like DNA-binding domain superfamily

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All nucleic 60

cDNA 59

Primer pair 1

Microarray probesets 4

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MGI:3039633

Summaries

All 44

Developmental Gene Expression 1

Gene Ontology 10

Phenotypes 14
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 Ascc3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr93211	Chr10:50468766-50468835 (+)	45 bp
Tssr93212	Chr10:50496896-50496903 (+)	28,144 bp
Tssr93213	Chr10:50538649-50538658 (+)	69,898 bp
Tssr93214	Chr10:50542382-50542387 (+)	73,629 bp
Tssr93215	Chr10:50603281-50603295 (+)	134,532 bp
Tssr93216	Chr10:50606007-50606035 (+)	137,265 bp
Tssr93217	Chr10:50649460-50649468 (+)	180,708 bp
Tssr93218	Chr10:50653299-50653322 (+)	184,555 bp
Tssr93219	Chr10:50655579-50655588 (+)	186,828 bp
Tssr93220	Chr10:50668364-50668379 (+)	199,616 bp
Tssr93221	Chr10:50674085-50674101 (+)	205,337 bp
Tssr93222	Chr10:50679877-50679889 (+)	211,127 bp
Tssr93223	Chr10:50695678-50695695 (+)	226,931 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 12/10/2024 MGI 6.24