Reps1 MGI Mouse Gene Detail - MGI:1196373 - RalBP1 associated Eps domain containing protein

Symbol

Reps1
Name

RalBP1 associated Eps domain containing protein

Feature Type

protein coding gene
IDs

MGI:1196373
NCBI Gene: 19707
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr10:17931609-18000903 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 7.42 cM
Mapping Data

2 experiments

SNPs within 2kb

1692 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1196373	protein coding gene	Chr10:17931301-18000903 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017035	protein coding gene	Chr10:15720118-15797260 (+)
A/J	MGP_AJ_G0017013	protein coding gene	Chr10:15115980-15188083 (+)
AKR/J	MGP_AKRJ_G0016977	protein coding gene	Chr10:15354617-15427874 (+)
BALB/cJ	MGP_BALBcJ_G0016971	protein coding gene	Chr10:15188698-15259516 (+)
C3H/HeJ	MGP_C3HHeJ_G0016796	protein coding gene	Chr10:15687821-15764102 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017433	protein coding gene	Chr10:16101447-16184003 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015138	protein coding gene	Chr10:14020817-14091311 (+)
CAST/EiJ	MGP_CASTEiJ_G0016378	protein coding gene	Chr10:15485966-15562266 (+)
CBA/J	MGP_CBAJ_G0016768	protein coding gene	Chr10:16825480-16902414 (+)
DBA/2J	MGP_DBA2J_G0016876	protein coding gene	Chr10:15013636-15083289 (+)
FVB/NJ	MGP_FVBNJ_G0016871	protein coding gene	Chr10:14779779-14848386 (+)
LP/J	MGP_LPJ_G0016951	protein coding gene	Chr10:15543789-15617284 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016901	protein coding gene	Chr10:17181851-17254793 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017471	protein coding gene	Chr10:15329022-15403673 (+)
PWK/PhJ	MGP_PWKPhJ_G0016163	protein coding gene	Chr10:14830529-14899832 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015946	protein coding gene	Chr10:15494962-15569415 (+)
WSB/EiJ	MGP_WSBEiJ_G0016440	protein coding gene	Chr10:15404782-15483971 (+)

Human Ortholog

REPS1, RALBP1 associated Eps domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

REPS1, RALBP1 associated Eps domain containing 1
Synonyms

NBIA7, RALBP1
Links

HGNC:15578

NCBI Gene ID: 85021

neXtProt AC: NX_Q96D71

UniProt: Q96D71
Chr Location

6q24.1; chr6:138903493-138988261 (-) GRCh38

MGI Vertebrate Homology

Reps1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: REPS1
Gene Tree

Reps1

Diseases

1 with human REPS1 associations

				Human Disease	Mouse Models
				neurodegeneration with brain iron accumulation IDs neurodegeneration with brain iron accumulation DOID:0110734 MESH:C538421 OMIM:PS234200 ORDO:385 UMLS_CUI:C2931845

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

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Phenotype Summary

11 phenotype references

All Mutations and Alleles

8
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

4
Targeted

2
Genomic Mutations

1 involving Reps1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

29 strains or lines available

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All GO Annotations

17
GO References

6

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

760
Tissues

7
cDNA Data

84
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase reps1

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All Sequences

78
RefSeq

14
UniProt

9
CCDS

CCDS23710.2, CCDS48507.1

Ensembl

ENSMUSG00000019854 (Evidence)
NCBI Gene

19707

			Length	Strain/Species	Flank
genomic	ENSMUSG00000019854	Ensembl Gene Model \| MGI Sequence Detail	69295	C57BL/6J	± kb
transcript	ENSMUST00000126390	Ensembl \| MGI Sequence Detail	2595	Not Applicable
polypeptide	ENSMUSP00000123238	Ensembl \| MGI Sequence Detail	795	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000013887 RalBP1-associated Eps domain-containing protein 1

(term hierarchy)
PDB

1FI6
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR000261 EH domain
GlyGen

O54916 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 85

cDNA 85

Microarray probesets 4

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MGI:2143517, MGI:2143899

Summaries

All 37

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 11
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

TSS for Reps1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr92463	Chr10:17931268-17931343 (+)	-303 bp
Tssr92464	Chr10:17931346-17931359 (+)	-256 bp
Tssr92465	Chr10:17931459-17931538 (+)	-110 bp
Tssr92466	Chr10:17931541-17931563 (+)	-57 bp
Tssr92467	Chr10:17953244-17953252 (+)	21,639 bp
Tssr92468	Chr10:17953299-17953323 (+)	21,702 bp
Tssr92469	Chr10:17961466-17961467 (+)	29,858 bp
Tssr92470	Chr10:17981516-17981520 (+)	49,909 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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