Pstpip1 MGI Mouse Gene Detail - MGI:1321396 - proline-serine-threonine phosphatase-interacting protein 1

Symbol

Pstpip1
Name

proline-serine-threonine phosphatase-interacting protein 1
Synonyms

CD2BP1, def-2

Feature Type

protein coding gene
IDs

MGI:1321396
NCBI Gene: 19200
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr9:55997246-56036172 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 30.13 cM, cytoband C
Mapping Data

1 experiment

SNPs within 2kb

1112 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1321396	protein coding gene	Chr9:55985729-56036174 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034847	protein coding gene	Chr9:55227352-55269674 (+)
A/J	MGP_AJ_G0034828	protein coding gene	Chr9:53433438-53473652 (+)
AKR/J	MGP_AKRJ_G0034757	protein coding gene	Chr9:54673642-54715910 (+)
BALB/cJ	MGP_BALBcJ_G0034820	protein coding gene	Chr9:53221414-53261620 (+)
C3H/HeJ	MGP_C3HHeJ_G0034530	protein coding gene	Chr9:55135358-55175889 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035339	protein coding gene	Chr9:56780576-56825355 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032250	protein coding gene	Chr9:52785977-52825721 (+)
CAST/EiJ	MGP_CASTEiJ_G0033851	protein coding gene	Chr9:55174622-55213485 (+)
CBA/J	MGP_CBAJ_G0034501	protein coding gene	Chr9:58732844-58780862 (+)
DBA/2J	MGP_DBA2J_G0034660	protein coding gene	Chr9:53324567-53364341 (+)
FVB/NJ	MGP_FVBNJ_G0034602	protein coding gene	Chr9:52528862-52567743 (+)
LP/J	MGP_LPJ_G0034743	protein coding gene	Chr9:55518590-55557336 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034645	protein coding gene	Chr9:60253765-60294344 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035361	protein coding gene	Chr9:54679911-54718725 (+)
PWK/PhJ	MGP_PWKPhJ_G0033556	protein coding gene	Chr9:53327556-53368465 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033390	protein coding gene	Chr9:54962582-55001556 (+)
WSB/EiJ	MGP_WSBEiJ_G0033964	protein coding gene	Chr9:54611481-54652713 (+)

Human Ortholog

PSTPIP1, proline-serine-threonine phosphatase interacting protein 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PSTPIP1, proline-serine-threonine phosphatase interacting protein 1
Synonyms

AICZC, CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPA, PAPAS, PSTPIP
Links

HGNC:9580

NCBI Gene ID: 9051

neXtProt AC: NX_O43586

UniProt: O43586
Chr Location

15q24.3; chr15:76993359-77037475 (+) GRCh38

MGI Vertebrate Homology

Pstpip1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PSTPIP1
Gene Tree

Pstpip1

Diseases

1 with human PSTPIP1 associations

				Human Disease	Mouse Models
				PAPA syndrome IDs PAPA syndrome DOID:0080519 OMIM:604416 ORDO:69126

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

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Phenotype Summary

15 phenotypes from 3 alleles in 3 genetic backgrounds
6 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

5
Endonuclease-mediated

2
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

14 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit defects in immune cells with T cell hyperresponsive to antigen receptor stimulation.

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All GO Annotations

22
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

736
Tissues

14
cDNA Data

23
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pstpip1

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All Sequences

70
RefSeq

31
UniProt

2
CCDS

CCDS40645.1

Ensembl

ENSMUSG00000032322 (Evidence)
NCBI Gene

19200

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032322	Ensembl Gene Model \| MGI Sequence Detail	38927	C57BL/6J	± kb
transcript	ENSMUST00000059206	Ensembl \| MGI Sequence Detail	1863	Not Applicable
polypeptide	ENSMUSP00000055823	Ensembl \| MGI Sequence Detail	415	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000013408 proline-serine-threonine phosphatase-interacting protein 1

(term hierarchy)
InterPro Domains

IPR027267 AH/BAR domain superfamily

IPR031160 F-BAR domain

IPR001060 FCH domain

IPR030777 PSTPIP1, SH3 domain

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

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All nucleic 25

cDNA 24

Other 1

Microarray probesets 4

Summaries

All 37

Developmental Gene Expression 4

Gene Ontology 8

Phenotypes 6
Earliest

J:54372 Spencer S, et al., PSTPIP: a tyrosine phosphorylated cleavage furrow-associated protein that is a substrate for a PEST tyrosine phosphatase. J Cell Biol. 1997 Aug 25;138(4):845-60
Latest

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

TSS for Pstpip1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr85231	Chr9:55997221-55997233 (+)	-19 bp
Tssr85232	Chr9:55997250-55997271 (+)	15 bp
Tssr85233	Chr9:55997272-55997291 (+)	36 bp
Tssr85234	Chr9:55997299-55997344 (+)	76 bp
Tssr85235	Chr9:55997359-55997373 (+)	120 bp
Tssr2880	Chr9:55997382-55997387 (+)	139 bp
Tssr85236	Chr9:55997453-55997468 (+)	215 bp
Tssr85237	Chr9:55997494-55997522 (+)	262 bp
Tssr85238	Chr9:55997626-55997642 (+)	388 bp
Tssr85239	Chr9:55997657-55997683 (+)	424 bp
Tssr85240	Chr9:56002836-56002867 (+)	5,606 bp
Tssr85241	Chr9:56008816-56008827 (+)	11,576 bp
Tssr85242	Chr9:56019419-56019432 (+)	22,180 bp
Tssr85243	Chr9:56021367-56021403 (+)	24,139 bp
Tssr85244	Chr9:56021950-56021961 (+)	24,710 bp
Tssr85245	Chr9:56026929-56026933 (+)	29,685 bp
Tssr85246	Chr9:56027842-56027854 (+)	30,602 bp
Tssr85247	Chr9:56030538-56030549 (+)	33,298 bp
Tssr85248	Chr9:56030573-56030589 (+)	33,335 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