Ptbp1 MGI Mouse Gene Detail - MGI:97791 - polypyrimidine tract binding protein 1

Symbol

Ptbp1
Name

polypyrimidine tract binding protein 1
Synonyms

hnRNP I, Ptb

Feature Type

protein coding gene
IDs

MGI:97791
NCBI Gene: 19205
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr10:79690502-79700269 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

4 experiments

SNPs within 2kb

164 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97791	protein coding gene	Chr10:79690261-79700605 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017463	protein coding gene	Chr10:80410843-80419678 (+)
A/J	MGP_AJ_G0017441	protein coding gene	Chr10:77608936-77619157 (+)
AKR/J	MGP_AKRJ_G0017402	protein coding gene	Chr10:79722188-79732528 (+)
BALB/cJ	MGP_BALBcJ_G0017403	protein coding gene	Chr10:77835019-77846075 (+)
C3H/HeJ	MGP_C3HHeJ_G0017226	protein coding gene	Chr10:79826456-79837804 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017857	protein coding gene	Chr10:83184611-83195612 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015545	protein coding gene	Chr10:73834597-73844955 (+)
CAST/EiJ	MGP_CASTEiJ_G0016793	protein coding gene	Chr10:80012293-80023135 (+)
CBA/J	MGP_CBAJ_G0017198	protein coding gene	Chr10:86410948-86423881 (+)
DBA/2J	MGP_DBA2J_G0017304	protein coding gene	Chr10:76823821-76834172 (+)
FVB/NJ	MGP_FVBNJ_G0017298	protein coding gene	Chr10:76002426-76011913 (+)
LP/J	MGP_LPJ_G0017375	protein coding gene	Chr10:80887098-80898949 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017324	protein coding gene	Chr10:88383895-88394177 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017898	protein coding gene	Chr10:79706105-79719961 (+)
PWK/PhJ	MGP_PWKPhJ_G0016574	protein coding gene	Chr10:76685900-76696071 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016363	protein coding gene	Chr10:78682129-78691858 (+)
WSB/EiJ	MGP_WSBEiJ_G0016853	protein coding gene	Chr10:79729874-79739709 (+)

Human Ortholog

PTBP1, polypyrimidine tract binding protein 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PTBP1, polypyrimidine tract binding protein 1
Synonyms

HNRNP-I, HNRNPI, HNRPI, pPTB, PTB, PTB-1, PTB2, PTB3, PTB4, PTB-T
Links

HGNC:9583

NCBI Gene ID: 5725

neXtProt AC: NX_P26599

UniProt: P26599
Chr Location

19p13.3; chr19:797075-812327 (+) GRCh38

MGI Vertebrate Homology

Ptbp1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PTBP1
Gene Tree

Ptbp1

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Phenotype Summary

27 phenotypes from 3 alleles in 3 genetic backgrounds
4 images
30 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

41
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

27
Targeted

7
Genomic Mutations

1 involving Ptbp1
Incidental Mutations

APF
Find Mice (IMSR)

36 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele die before E6.5. Mice homozygous for a conditional allele activated in neuronal stem cells (NSCs) exhibit premature death, and non-obstructive hydrocephaly with loss of ependymal cells due to precocious NSC differentiation.

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All GO Annotations

40
GO References

11

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

881
Tissues

112
cDNA Data

708
Literature Summary

27

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ptbp1

ZFIN ptbp1b

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All Sequences

183
RefSeq

19
UniProt

19
CCDS

CCDS35969.1, CCDS35970.1, CCDS70064.1

Ensembl

ENSMUSG00000006498 (Evidence)
NCBI Gene

19205

			Length	Strain/Species	Flank
genomic	19205	NCBI Gene Model \| MGI Sequence Detail	9768	C57BL/6J	± kb
transcript	NM_001407387	RefSeq \| MGI Sequence Detail	2947	ZRU/MplStud
polypeptide	P17225	UniProt \| EBI \| MGI Sequence Detail	555	Not Applicable

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UniProt

19 Sequences
Protein Ontology

PR:000013410 polypyrimidine tract-binding protein 1

(term hierarchy)
InterPro Domains

IPR006536 HnRNP-L/PTB

IPR012677 Nucleotide-binding alpha-beta plait domain superfamily

IPR021790 PTBP1-like, RNA recognition motif 2

IPR035000 PTBP1, RNA recognition motif 1

IPR035001 PTBP1, RNA recognition motif 3

IPR035979 RNA-binding domain superfamily

IPR000504 RNA recognition motif domain
GlyGen

P17225 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 714

Genomic 1

cDNA 708

Primer pair 5

Microarray probesets 4

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MGD-MRK-13658, MGI:2143456

Summaries

All 101

Developmental Gene Expression 27

Gene Ontology 11

Phenotypes 30
Earliest

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

J:357529 Wang Y, et al., PTBP1 mediates Sertoli cell actin cytoskeleton organization by regulating alternative splicing of actin regulators. Nucleic Acids Res. 2024 Oct 7;

TSS for Ptbp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94411	Chr10:79690452-79690474 (+)	-39 bp
Tssr94412	Chr10:79690492-79690508 (+)	-2 bp
Tssr94413	Chr10:79695201-79695217 (+)	4,707 bp
Tssr94414	Chr10:79695224-79695251 (+)	4,736 bp
Tssr94415	Chr10:79695265-79695294 (+)	4,778 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 11/19/2024 MGI 6.24