Rilpl1 MGI Mouse Gene Detail - MGI:1922945 - Rab interacting lysosomal protein-like 1

Symbol

Rilpl1
Name

Rab interacting lysosomal protein-like 1
Synonyms

2900002H16Rik, 6330559I19Rik, GOSPEL

Feature Type

protein coding gene
IDs

MGI:1922945
NCBI Gene: 75695
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr5:124631143-124669454 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 63.62 cM, cytoband F
Mapping Data

2 experiments

SNPs within 2kb

1127 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1922945	protein coding gene	Chr5:124631143-124669684 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0030098	protein coding gene	Chr5:128323039-128361420 (-)
A/J	MGP_AJ_G0030063	protein coding gene	Chr5:122967164-123005518 (-)
AKR/J	MGP_AKRJ_G0029999	protein coding gene	Chr5:126936833-126974912 (-)
BALB/cJ	MGP_BALBcJ_G0030074	protein coding gene	Chr5:124306486-124344935 (-)
C3H/HeJ	MGP_C3HHeJ_G0029791	protein coding gene	Chr5:127547340-127586428 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0030527	protein coding gene	Chr5:133289641-133340036 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027753	protein coding gene	Chr5:117493382-117533838 (-)
CAST/EiJ	MGP_CASTEiJ_G0029199	protein coding gene	Chr5:126645166-126698110 (-)
CBA/J	MGP_CBAJ_G0029761	protein coding gene	Chr5:138521409-138562049 (-)
DBA/2J	MGP_DBA2J_G0029911	protein coding gene	Chr5:122988092-123026785 (-)
FVB/NJ	MGP_FVBNJ_G0029867	protein coding gene	Chr5:122031931-122073223 (-)
LP/J	MGP_LPJ_G0030000	protein coding gene	Chr5:128856532-128894072 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029898	protein coding gene	Chr5:142087021-142126136 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030568	protein coding gene	Chr5:126558090-126596393 (-)
PWK/PhJ	MGP_PWKPhJ_G0028913	protein coding gene	Chr5:121800363-121851787 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0028750	protein coding gene	Chr5:124165750-124217116 (-)
WSB/EiJ	MGP_WSBEiJ_G0029274	protein coding gene	Chr5:127242741-127279818 (-)

Human Ortholog

RILPL1, Rab interacting lysosomal protein like 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RILPL1, Rab interacting lysosomal protein like 1
Synonyms

GOSPEL, OPDM4, RLP1
Links

HGNC:26814

NCBI Gene ID: 353116

neXtProt AC: NX_Q5EBL4

UniProt: Q5EBL4
Chr Location

12q24.31; chr12:123470054-123533719 (-) GRCh38

MGI Vertebrate Homology

Rilpl1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RILPL1
Gene Tree

Rilpl1

Diseases

1 with human RILPL1 associations

				Human Disease	Mouse Models
				oculopharyngodistal myopathy 4 IDs oculopharyngodistal myopathy 4 DOID:0081300 OMIM:619790

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

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
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

38
Chemically induced (other)

1
Gene trapped

33
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Rilpl1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

24 strains or lines available

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All GO Annotations

19
GO References

8

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

869
Tissues

29
cDNA Data

47
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rilpl1

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All Sequences

57
RefSeq

14
UniProt

4
CCDS

CCDS19678.1

Ensembl

ENSMUSG00000029392 (Evidence)
NCBI Gene

75695

			Length	Strain/Species	Flank
genomic	ENSMUSG00000029392	Ensembl Gene Model \| MGI Sequence Detail	38312	C57BL/6J	± kb
transcript	ENSMUST00000062153	Ensembl \| MGI Sequence Detail	2249	Not Applicable
polypeptide	ENSMUSP00000050014	Ensembl \| MGI Sequence Detail	406	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000014002 RILP-like protein 1

(term hierarchy)
InterPro Domains

IPR051241 DZIP and RILPL

IPR021563 Rab interacting lysosomal protein, dimerization domain

IPR034743 RH1 domain

IPR034744 RH2 domain

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All nucleic 50

cDNA 47

Primer pair 2

Other 1

Microarray probesets 6

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MGI:1923435

Summaries

All 47

Developmental Gene Expression 4

Gene Ontology 8

Phenotypes 14
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Rilpl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr53371	Chr5:124669371-124669456 (-)	40 bp
Tssr53370	Chr5:124669354-124669370 (-)	92 bp
Tssr53369	Chr5:124669257-124669295 (-)	178 bp
Tssr53368	Chr5:124669046-124669103 (-)	379 bp
Tssr53367	Chr5:124635033-124635070 (-)	34,402 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 11/12/2024 MGI 6.24