Cpsf1 MGI Mouse Gene Detail - MGI:2679722 - cleavage and polyadenylation specific factor 1

Symbol

Cpsf1
Name

cleavage and polyadenylation specific factor 1

Feature Type

protein coding gene
IDs

MGI:2679722
NCBI Gene: 94230
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr15:76480003-76491791 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 36.13 cM
Mapping Data

1 experiment

SNPs within 2kb

248 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2679722	protein coding gene	Chr15:76480003-76491861 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0022000	protein coding gene	Chr15:76679425-76693287 (-)
A/J	MGP_AJ_G0021958	protein coding gene	Chr15:73878544-73892706 (-)
AKR/J	MGP_AKRJ_G0021941	protein coding gene	Chr15:75887511-75899315 (-)
BALB/cJ	MGP_BALBcJ_G0021967	protein coding gene	Chr15:73907417-73919793 (-)
C3H/HeJ	MGP_C3HHeJ_G0021739	protein coding gene	Chr15:75931416-75945282 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0022407	protein coding gene	Chr15:79547495-79559294 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019936	protein coding gene	Chr15:70537345-70549315 (-)
CAST/EiJ	MGP_CASTEiJ_G0021258	protein coding gene	Chr15:76736756-76749068 (-)
CBA/J	MGP_CBAJ_G0021706	protein coding gene	Chr15:82060593-82076246 (-)
DBA/2J	MGP_DBA2J_G0021831	protein coding gene	Chr15:73419996-73431772 (-)
FVB/NJ	MGP_FVBNJ_G0021811	protein coding gene	Chr15:72474544-72486796 (-)
LP/J	MGP_LPJ_G0021902	protein coding gene	Chr15:76772242-76786591 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021836	protein coding gene	Chr15:87400724-87413748 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022427	protein coding gene	Chr15:76161961-76173799 (-)
PWK/PhJ	MGP_PWKPhJ_G0020999	protein coding gene	Chr15:73583044-73594887 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0020839	protein coding gene	Chr15:75855518-75867377 (-)
WSB/EiJ	MGP_WSBEiJ_G0021310	protein coding gene	Chr15:76246791-76261069 (-)

Human Ortholog

CPSF1, cleavage and polyadenylation specific factor 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CPSF1, cleavage and polyadenylation specific factor 1
Synonyms

CPSF160, HSU37012, MYP27, P/cl.18
Links

HGNC:2324

NCBI Gene ID: 29894

neXtProt AC: NX_Q10570

UniProt: Q10570
Chr Location

8q24.3; chr8:144393229-144409335 (-) GRCh38

MGI Vertebrate Homology

Cpsf1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CPSF1
Gene Tree

Cpsf1

Diseases

1 with human CPSF1 associations

				Human Disease	Mouse Models
				myopia IDs myopia DOID:11830 ICD10CM:H52.1 ICD9CM:367.1 MESH:D009216 NCI:C102533 OMIM:160700 OMIM:255500 OMIM:300613 OMIM:310460 OMIM:603221 OMIM:608367 OMIM:608474 OMIM:608908 OMIM:609256 OMIM:609257 OMIM:609258 OMIM:609259 OMIM:609994 OMIM:609995 OMIM:610320 OMIM:612554 OMIM:612717 OMIM:613959 OMIM:613969 OMIM:614166 OMIM:614167 OMIM:615420 OMIM:615431 OMIM:615946 UMLS_CUI:C0027092

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

References

1 with disease annotations

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
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

11
Chemically induced (other)

3
Endonuclease-mediated

1
Gene trapped

4
Radiation induced

2
Targeted

1
Genomic Mutations

5 involving Cpsf1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

58 strains or lines available

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All GO Annotations

10
GO References

5

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

731
Tissues

25
cDNA Data

181
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cpsf1

ZFIN cpsf1

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All Sequences

78
RefSeq

11
UniProt

5
CCDS

CCDS27577.1, CCDS88788.1

Ensembl

ENSMUSG00000034022 (Evidence)
NCBI Gene

94230

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034022	Ensembl Gene Model \| MGI Sequence Detail	11789	C57BL/6J	± kb
transcript	ENSMUST00000230157	Ensembl \| MGI Sequence Detail	4410	Not Applicable
polypeptide	ENSMUSP00000155308	Ensembl \| MGI Sequence Detail	1450	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000005828 cleavage and polyadenylation specificity factor subunit 1

(term hierarchy)
InterPro Domains

IPR004871 Cleavage/polyadenylation specificity factor, A subunit, C-terminal

IPR018846 Cleavage/polyadenylation specificity factor, A subunit, N-terminal

IPR050358 RSE1/DDB1/CFT1/CPSF1

IPR015943 WD40/YVTN repeat-like-containing domain superfamily
GlyGen

Q9EPU4 1 site, 1 O-linked glycan (1 site)

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All nucleic 182

cDNA 181

Primer pair 1

Microarray probesets 3

Summaries

All 56

Developmental Gene Expression 2

Diseases 1

Gene Ontology 5

Phenotypes 30
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:285676 Suzuki A, et al., Genes and microRNAs associated with mouse cleft palate: A systematic review and bioinformatics analysis. Mech Dev. 2018 Apr;150:21-27

TSS for Cpsf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr135018	Chr15:76491768-76491793 (-)	10 bp
Tssr135017	Chr15:76491684-76491742 (-)	78 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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