Ascc1 MGI Mouse Gene Detail - MGI:1916340 - activating signal cointegrator 1 complex subunit 1

Symbol

Ascc1
Name

activating signal cointegrator 1 complex subunit 1
Synonyms

1810015P09Rik, ASC1p50, CGI-18

Feature Type

protein coding gene
IDs

MGI:1916340
NCBI Gene: 69090
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr10:59838627-59935810 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 29.67 cM
Mapping Data

2 experiments

SNPs within 2kb

544 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916340	protein coding gene	Chr10:59838414-59935812 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017264	protein coding gene	Chr10:59206142-59309296 (+)
A/J	MGP_AJ_G0017242	protein coding gene	Chr10:57471504-57572075 (+)
AKR/J	MGP_AKRJ_G0017202	protein coding gene	Chr10:58966743-59075639 (+)
BALB/cJ	MGP_BALBcJ_G0017202	protein coding gene	Chr10:57560502-57659260 (+)
C3H/HeJ	MGP_C3HHeJ_G0017025	protein coding gene	Chr10:58884027-58984479 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017660	protein coding gene	Chr10:61321814-61433663 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015351	protein coding gene	Chr10:54482518-54576090 (+)
CAST/EiJ	MGP_CASTEiJ_G0016596	protein coding gene	Chr10:58813845-58920404 (+)
CBA/J	MGP_CBAJ_G0016997	protein coding gene	Chr10:63530747-63636312 (+)
DBA/2J	MGP_DBA2J_G0017102	protein coding gene	Chr10:56780770-56878203 (+)
FVB/NJ	MGP_FVBNJ_G0017096	protein coding gene	Chr10:56011373-56109862 (+)
LP/J	MGP_LPJ_G0017177	protein coding gene	Chr10:59577566-59675684 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017124	protein coding gene	Chr10:66035105-66139763 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017698	protein coding gene	Chr10:58770484-58874127 (+)
PWK/PhJ	MGP_PWKPhJ_G0016379	protein coding gene	Chr10:56581216-56676904 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016162	protein coding gene	Chr10:58105724-58204473 (+)
WSB/EiJ	MGP_WSBEiJ_G0016660	protein coding gene	Chr10:58682131-58785915 (+)

Human Ortholog

ASCC1, activating signal cointegrator 1 complex subunit 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ASCC1, activating signal cointegrator 1 complex subunit 1
Synonyms

ASC1p50, CGI-18, p50, SMABF2
Links

HGNC:24268

NCBI Gene ID: 51008

neXtProt AC: NX_Q8N9N2

UniProt: Q8N9N2
Chr Location

10q22.1; chr10:72096032-72217134 (-) GRCh38

MGI Vertebrate Homology

Ascc1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ASCC1
Protein SuperFamily

Euk_LigT
Gene Tree

Ascc1

Diseases

1 with human ASCC1 associations

				Human Disease	Mouse Models
				Barrett's esophagus IDs Barrett's esophagus DOID:9206 EFO:0000280 ICD10CM:K22.7 ICD9CM:530.85 MESH:D001471 NCI:C2891 OMIM:614266 UMLS_CUI:C0004763

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

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
15 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

47
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

40
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Ascc1
Incidental Mutations

APF
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

14
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	non-membrane-bounded 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

784
Tissues

40
cDNA Data

13
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ascc1

ZFIN ascc1

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All Sequences

64
RefSeq

20
UniProt

2
CCDS

CCDS23870.1

Ensembl

ENSMUSG00000044475 (Evidence)
NCBI Gene

69090

			Length	Strain/Species	Flank
genomic	ENSMUSG00000044475	Ensembl Gene Model \| MGI Sequence Detail	97184	C57BL/6J	± kb
transcript	ENSMUST00000050516	Ensembl \| MGI Sequence Detail	1450	Not Applicable
polypeptide	ENSMUSP00000052351	Ensembl \| MGI Sequence Detail	356	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004359 activating signal cointegrator 1 complex subunit 1

(term hierarchy)
InterPro Domains

IPR009210 Activating signal cointegrator 1 complex subunit 1

IPR047538 Activating signal cointegrator 1 complex subunit 1, type I KH domain

IPR019510 A-kinase anchor protein 7-like, phosphoesterase domain

IPR004087 K Homology domain

IPR004088 K Homology domain, type 1

IPR036612 K Homology domain, type 1 superfamily

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All nucleic 15

cDNA 14

Primer pair 1

Microarray probesets 5

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MGI:2143642

Summaries

All 44

Developmental Gene Expression 3

Gene Ontology 7

Phenotypes 15
Earliest

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

J:231973 Knierim E, et al., Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016 Mar 3;98(3):473-89

TSS for Ascc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr93500	Chr10:59838407-59838451 (+)	-198 bp
Tssr93501	Chr10:59838622-59838631 (+)	0 bp
Tssr93502	Chr10:59838638-59838673 (+)	29 bp
Tssr93503	Chr10:59839042-59839099 (+)	444 bp
Tssr93504	Chr10:59839143-59839165 (+)	527 bp
Tssr93505	Chr10:59839205-59839214 (+)	583 bp
Tssr93506	Chr10:59877907-59877939 (+)	39,296 bp
Tssr93507	Chr10:59898252-59898292 (+)	59,645 bp
Tssr3210	Chr10:59898315-59898324 (+)	59,693 bp
Tssr93508	Chr10:59914692-59914706 (+)	76,072 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 04/16/2024 MGI 6.23