Prom1 prominin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prom1provided by MGI
Official Full Name: prominin 1provided by MGI
Primary source: MGI:MGI:1100886
See related: Ensembl:ENSMUSG00000029086 AllianceGenome:MGI:1100886
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Prom; AC133; CD133; Prom-1; Proml1; 4932416E19Rik
Summary: Predicted to enable actinin binding activity; cadherin binding activity; and cholesterol binding activity. Involved in camera-type eye photoreceptor cell differentiation and retina layer formation. Located in several cellular components, including brush border; photoreceptor outer segment; and prominosome. Is expressed in several structures, including brain; eye; genitourinary system; intestine; and spinal cord floor plate. Used to study retinitis pigmentosa 41. Human ortholog(s) of this gene implicated in cone-rod dystrophy 12; retinal macular dystrophy 2; and retinitis pigmentosa 41. Orthologous to human PROM1 (prominin 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in genital fat pad adult (RPKM 29.5), testis adult (RPKM 13.0) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 23.97 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (44150963..44260850, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (43993621..44102047, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prominin 1 is crucial for the early development of photoreceptor outer segments.
Title: Prominin 1 is crucial for the early development of photoreceptor outer segments.
Impact of heterogeneous nuclear ribonucleoprotein A/B subtype overexpression on the expression of cancer stem cell markers CD133 and CD44 and cellular proliferation capacity.
Title: Impact of heterogeneous nuclear ribonucleoprotein A/B subtype overexpression on the expression of cancer stem cell markers CD133 and CD44 and cellular proliferation capacity.
PROM1-mediated cell signal transduction in cancer stem cells and hepatocytes.
Title: PROM1-mediated cell signal transduction in cancer stem cells and hepatocytes.
Prominin-1 promotes restitution of the murine extrahepatic biliary luminal epithelium following cholestatic liver injury.
Title: Prominin-1 promotes restitution of the murine extrahepatic biliary luminal epithelium following cholestatic liver injury.
Hepatocyte-specific Prominin-1 protects against liver injury-induced fibrosis by stabilizing SMAD7.
Title: Hepatocyte-specific Prominin-1 protects against liver injury-induced fibrosis by stabilizing SMAD7.
Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina.
Title: Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina.
A Subpopulation of Microglia Generated in the Adult Mouse Brain Originates from Prominin-1-Expressing Progenitors.
Title: A Subpopulation of Microglia Generated in the Adult Mouse Brain Originates from Prominin-1-Expressing Progenitors.
Prominin-1-expressing hepatic progenitor cells induce fibrogenesis in murine cholestatic liver injury.
Title: Prominin-1-expressing hepatic progenitor cells induce fibrogenesis in murine cholestatic liver injury.
Prominin-1-Radixin axis controls hepatic gluconeogenesis by regulating PKA activity.
Title: Prominin-1-Radixin axis controls hepatic gluconeogenesis by regulating PKA activity.
The stem cell marker Prom1 promotes axon regeneration by down-regulating cholesterol synthesis via Smad signaling.
Title: The stem cell marker Prom1 promotes axon regeneration by down-regulating cholesterol synthesis via Smad signaling.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Spontaneous (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5Mit79 (e-PCR), detects polymorphism
- UniSTS:130617

NoName (e-PCR)
- UniSTS:225215

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actinin binding	ISO Inferred from Sequence Orthology more info
enables cadherin binding	ISO Inferred from Sequence Orthology more info
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in camera-type eye photoreceptor cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in camera-type eye photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in camera-type eye photoreceptor cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in glomerular parietal epithelial cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
involved_in podocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of nephron tubule epithelial cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in retina layer formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retina morphogenesis in camera-type eye	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum-Golgi intermediate compartment	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-Golgi intermediate compartment	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in microvillus	IBA Inferred from Biological aspect of Ancestor more info
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus membrane	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in prominosome	IBA Inferred from Biological aspect of Ancestor more info
located_in prominosome	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: prominin-1

Names: antigen AC133 homolog; prominin-like 1; prominin-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001163577.1 → NP_001157049.1 prominin-1 isoform s2 precursor

See identical proteins and their annotated locations for NP_001157049.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (s2).

Source sequence(s)

AC102476, AK029921, BC028286, CJ054003, CX224587, EH108160

Consensus CDS

CCDS51494.1

UniProtKB/Swiss-Prot

O35408, O54990, Q80XB2, Q80XB3, Q80XB6, Q8BH12

UniProtKB/TrEMBL

G5E8G5

Related

ENSMUSP00000073751.7, ENSMUST00000074113.13

Conserved Domains (1) summary

pfam05478
Location:19 → 822

Prominin
NM_001163578.1 → NP_001157050.1 prominin-1 isoform s3 precursor

See identical proteins and their annotated locations for NP_001157050.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternative in-frame exon in the 5' coding region and has multiple differences in the presence and absence of exons at its 3' end, compared to variant 2. The resulting isoform (s3) lacks a 9 aa segment near the N-terminus and has a shorter and distinct C-terminus, compared to isoform s2. The full structure of the 5' UTR for this variant has not been determined.

Source sequence(s)

AK030027

Consensus CDS

CCDS51493.1

UniProtKB/Swiss-Prot

O35408, O54990, Q80XB2, Q80XB3, Q80XB6, Q8BH12

UniProtKB/TrEMBL

A0A0G2JDH9

Related

ENSMUSP00000084709.5, ENSMUST00000087442.11

Conserved Domains (3) summary

TIGR04527
Location:264 → 445

mycoplas_twoTM; two transmembrane protein

pfam02465
Location:248 → 298

FliD_N; Flagellar hook-associated protein 2 N-terminus

pfam05478
Location:19 → 813

Prominin; Prominin
NM_001163581.1 → NP_001157053.1 prominin-1 isoform s4 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks multiple alternative in-frame exons in the 5' coding region and has multiple differences in the presence and absence of exons at its 3' end, compared to variant 2. The resulting isoform (s4) has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform s2. The full structure of the 5' UTR for this variant has not been determined.

Source sequence(s)

AK030027

Consensus CDS

CCDS80275.1

UniProtKB/Swiss-Prot

O35408, O54990, Q80XB2, Q80XB3, Q80XB6, Q8BH12

UniProtKB/TrEMBL

A0A0G2JE50

Related

ENSMUSP00000142632.2, ENSMUST00000197706.5

Conserved Domains (3) summary

TIGR04527
Location:259 → 415

mycoplas_twoTM; two transmembrane protein

pfam02465
Location:243 → 293

FliD_N; Flagellar hook-associated protein 2 N-terminus

pfam05478
Location:19 → 783

Prominin; Prominin
NM_001163582.1 → NP_001157054.1 prominin-1 isoform s5 precursor

See identical proteins and their annotated locations for NP_001157054.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks multiple alternative in-frame exons in the 5' coding region and has multiple differences in the presence and absence of exons at its 3' end, compared to variant 2. The resulting isoform (s5) has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform s2. The full structure of the 5' UTR for this variant has not been determined.

Source sequence(s)

AK030027

Consensus CDS

CCDS51491.1

UniProtKB/Swiss-Prot

O35408, O54990, Q80XB2, Q80XB3, Q80XB6, Q8BH12

UniProtKB/TrEMBL

A0A0R4J0B0

Related

ENSMUSP00000030973.8, ENSMUST00000030973.12

Conserved Domains (3) summary

TIGR04527
Location:264 → 420

mycoplas_twoTM; two transmembrane protein

pfam02465
Location:248 → 298

FliD_N; Flagellar hook-associated protein 2 N-terminus

pfam05478
Location:19 → 788

Prominin; Prominin
NM_001163583.1 → NP_001157055.1 prominin-1 isoform s6 precursor

See identical proteins and their annotated locations for NP_001157055.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks an alternative in-frame exon in the 5' coding region and has multiple differences in the presence and absence of exons at its 3' end, compared to variant 2. The resulting isoform (s6) lacks a 9 aa segment near the N-terminus and has a shorter and distinct C-terminus, compared to isoform s2. The full structure of the 5' UTR for this variant has not been determined.

Source sequence(s)

AC102476, AK030027

UniProtKB/Swiss-Prot

O35408, O54990, Q80XB2, Q80XB3, Q80XB6, Q8BH12

Conserved Domains (3) summary

TIGR04527
Location:264 → 445

mycoplas_twoTM; two transmembrane protein

pfam02465
Location:248 → 298

FliD_N; Flagellar hook-associated protein 2 N-terminus

pfam05478
Location:19 → 813

Prominin; Prominin
NM_001163584.1 → NP_001157056.1 prominin-1 isoform s7 precursor

See identical proteins and their annotated locations for NP_001157056.1

Status: VALIDATED

Description

Transcript Variant: This variant (7) lacks an alternative in-frame exon in the 5' coding region and lacks multiple exons at its 3' end, compared to variant 2. The resulting isoform (s7) lacks a 9 aa segment near the N-terminus and has a shorter C-terminus, compared to isoform s2. The full structure of the 5' UTR for this variant has not been determined.

Source sequence(s)

AK029921, BC028286

Consensus CDS

CCDS51492.1

UniProtKB/Swiss-Prot

O35408, O54990, Q80XB2, Q80XB3, Q80XB6, Q8BH12

UniProtKB/TrEMBL

Q8CDK8

Related

ENSMUSP00000136483.2, ENSMUST00000177946.8

Conserved Domains (1) summary

pfam05478
Location:19 → 813

Prominin
NM_001163585.1 → NP_001157057.1 prominin-1 isoform s8 precursor

See identical proteins and their annotated locations for NP_001157057.1

Status: VALIDATED

Description

Transcript Variant: This variant (8) lacks an alternative in-frame exon in the 5' coding region and has multiple differences in the presence and absence of exons at its 3' end, compared to variant 2. The resulting isoform (s8) lacks a 9 aa segment near the N-terminus and has a shorter C-terminus, compared to isoform s2. The full structure of the 5' UTR for this variant has not been determined.

Source sequence(s)

BC028286

Consensus CDS

CCDS51495.1

UniProtKB/Swiss-Prot

O35408, O54990, Q80XB2, Q80XB3, Q80XB6, Q8BH12

UniProtKB/TrEMBL

Q8R056

Related

ENSMUSP00000137557.2, ENSMUST00000179059.8

Conserved Domains (3) summary

TIGR04527
Location:273 → 454

mycoplas_twoTM; two transmembrane protein

pfam02465
Location:257 → 307

FliD_N; Flagellar hook-associated protein 2 N-terminus

pfam05478
Location:19 → 828

Prominin; Prominin
NM_008935.2 → NP_032961.2 prominin-1 isoform s1 precursor

See identical proteins and their annotated locations for NP_032961.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an alternative in-frame exon in the 5' coding region, compared to variant 2. The resulting isoform (s1) lacks a 9 aa segment near the N-terminus, compared to isoform s2.

Source sequence(s)

AC102476, AK029921, BC028286, CJ054003, EH108160

Consensus CDS

CCDS39082.1

UniProtKB/Swiss-Prot

O35408, O54990, Q80XB2, Q80XB3, Q80XB6, Q8BH12

UniProtKB/TrEMBL

G3X9J8

Related

ENSMUSP00000084707.5, ENSMUST00000087441.11

Conserved Domains (1) summary

pfam05478
Location:19 → 813

Prominin