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

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
Transcription Start Sites

8 TSS

Sequence Map

Chr1:6214662-6276374 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 1.89 cM, cytoband A2
Mapping Data

4 experiments

SNPs within 2kb

463 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1341850	protein coding gene	Chr1:6206197-6276648 (.)
129S1/SvImJ	MGP_129S1SvImJ_G0015818	protein coding gene	Chr1:3387353-3459425 (+)
A/J	MGP_AJ_G0015800	protein coding gene	Chr1:3351408-3421089 (+)
AKR/J	MGP_AKRJ_G0015759	protein coding gene	Chr1:3322769-3394896 (+)
BALB/cJ	MGP_BALBcJ_G0015756	protein coding gene	Chr1:3239727-3309383 (+)
C3H/HeJ	MGP_C3HHeJ_G0015590	protein coding gene	Chr1:3303829-3372689 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016208	protein coding gene	Chr1:3450433-3531362 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0013930	protein coding gene	Chr1:2865673-2936306 (+)
CAST/EiJ	MGP_CASTEiJ_G0015170	protein coding gene	Chr1:3491345-3563665 (+)
CBA/J	MGP_CBAJ_G0015564	protein coding gene	Chr1:3609980-3685227 (+)
DBA/2J	MGP_DBA2J_G0015662	protein coding gene	Chr1:3194537-3263585 (+)
FVB/NJ	MGP_FVBNJ_G0015667	protein coding gene	Chr1:3146218-3215647 (+)
LP/J	MGP_LPJ_G0015735	protein coding gene	Chr1:3452083-3538423 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015686	protein coding gene	Chr1:3869393-3960570 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016255	protein coding gene	Chr1:3288821-3359231 (+)
PWK/PhJ	MGP_PWKPhJ_G0014954	protein coding gene	Chr1:3081440-3159229 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014734	protein coding gene	Chr1:3469387-3545253 (+)
WSB/EiJ	MGP_WSBEiJ_G0015234	protein coding gene	Chr1:3243236-3315138 (+)

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:C9335 OMIM:114480 UMLS_CUI:C0006142

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

less

Phenotype Summary

43 phenotypes from 2 alleles in 4 genetic backgrounds
2 images
28 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	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)

5 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

less

All GO Annotations

50
GO References

13

External Resources

FuncBase

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

less

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

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rb1cc1

less

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

less

All Sequences

88
RefSeq

12
UniProt

12
CCDS

CCDS35507.1

Ensembl

ENSMUSG00000025907 (Evidence)
NCBI Gene

12421

			Length	Strain/Species	Flank
genomic	12421	NCBI Gene Model \| MGI Sequence Detail	61713	C57BL/6J	± kb
transcript	NM_009826	RefSeq \| MGI Sequence Detail	7046	C57BL/6
polypeptide	Q9ESK9	UniProt \| EBI \| MGI Sequence Detail	1588	Not Applicable

less

UniProt

12 Sequences
Protein Ontology

PR:000013774 RB1-inducible coiled-coil protein 1

(term hierarchy)
InterPro Domains

IPR040040 Autophagy-related protein 11

IPR019460 Autophagy-related protein 11, C-terminal

IPR029071 Ubiquitin-like domain superfamily

less

All nucleic 19

Genomic 1

cDNA 18

Microarray probesets 6

less

MGI:1920276, MGI:1924359

Summaries

All 78

Developmental Gene Expression 13

Gene Ontology 13

Phenotypes 28
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:267290 Cunha LD, et al., LC3-Associated Phagocytosis in Myeloid Cells Promotes Tumor Immune Tolerance. Cell. 2018 Oct 4;175(2):429-441.e16

TSS for Rb1cc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr5820	Chr1:6214627-6214683 (+)	-7 bp
Tssr5821	Chr1:6214684-6214722 (+)	41 bp
Tssr5822	Chr1:6214787-6214801 (+)	132 bp
Tssr5823	Chr1:6214806-6214817 (+)	150 bp
Tssr5824	Chr1:6214828-6214838 (+)	171 bp
Tssr5825	Chr1:6214857-6214866 (+)	200 bp
Tssr5827	Chr1:6249311-6249329 (+)	34,658 bp
Tssr5828	Chr1:6249702-6249714 (+)	35,046 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 01/08/2019 MGI 6.13