Rb1cc1 MGI Mouse Gene Detail - MGI:1341850 - RB1-inducible coiled-coil 1

Rb1cc1 Gene Detail

Symbol

Rb1cc1
Name

RB1-inducible coiled-coil 1
Synonyms

2900055E04Rik, 5930404L04Rik, Cc1, Fip200, LaXp180, mKIAA0203

Feature Type

protein coding gene
IDs

MGI:1341850
NCBI Gene: 12421
Gene Overview

MyGene.info: RB1CC1
Alliance

gene page

Sequence Map

Chr1:6206197-6276648 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

70452 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 1.89 cM, cytoband A2
Mapping Data

4 experiments

Human Ortholog

RB1CC1, RB1 inducible coiled-coil 1

Vertebrate Orthologs

9

Human Ortholog

RB1CC1, RB1 inducible coiled-coil 1
Orthology source: HomoloGene, HGNC
Synonyms

ATG17, CC1, FIP200, PPP1R131
Links

HGNC:15574

NCBI Gene ID: 9821

neXtProt AC: NX_Q8TDY2

UniProt: Q8TDY2
Chr Location

8q11.23; chr8:52622458-52714466 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 7659
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: RB1CC1
Gene Tree

Rb1cc1

Diseases

1 with human RB1CC1 associations

				Human Disease	Mouse Models
				breast cancer IDs breast cancer DOID:1612 DOID:1648 DOID:4241 ICD10CM:C50 ICD10CM:C50-C50 ICD9CM:174.8 MESH:D001943 NCI:C2910 NCI:C9335 OMIM:114480 OMIM:600048 OMIM:605365 UMLS_CUI:C0006142 UMLS_CUI:C0153555 UMLS_CUI:C1458155

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

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Phenotype Summary

43 phenotypes from 2 alleles in 4 genetic backgrounds
2 images
23 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

11
Gene trapped

5
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available

Homozygous mutation of this gene results in embryonic lethality at mid/late gestation associated with heart failure and liver degeneration.

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All GO Annotations

30
GO References

11

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	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

48
Tissues

30
cDNA Data

15
Literature Summary

11

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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Rb1cc1 interacts with 385 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

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All Sequences

95
RefSeq

12
UniProt

12
CCDS

CCDS35507.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000033467	VEGA Gene Model \| MGI Sequence Detail	70452	C57BL/6J	± kb
transcript	OTTMUST00000084091	VEGA \| MGI Sequence Detail	7607	Not Applicable
polypeptide	OTTMUSP00000045266	VEGA \| MGI Sequence Detail	1588	Not Applicable

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SNPs within 2kb

504 from dbSNP Build 142

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UniProt

12 Sequences
Protein Ontology

PR:000013774 RB1-inducible coiled-coil protein 1

(term hierarchy)
InterPro Domains

IPR019460 Autophagy-related protein 11

IPR029071 Ubiquitin-like domain superfamily

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All nucleic 18

cDNA 18

Microarray probesets 6

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MGI:1920276, MGI:1924359

Summaries

All 67

Developmental Gene Expression 11

Gene Ontology 11

Phenotypes 23
Earliest

J:51752 Maucuer A, et al., Stathmin interaction with a putative kinase and coiled-coil-forming protein domains. Proc Natl Acad Sci U S A. 1995 Apr 11;92(8):3100-4
Latest

J:236652 Wang C, et al., Elevated p62/SQSTM1 determines the fate of autophagy-deficient neural stem cells by increasing superoxide. J Cell Biol. 2016 Feb 29;212(5):545-60

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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