Sf3a1 MGI Mouse Gene Detail - MGI:1914715 - splicing factor 3a, subunit 1

Symbol

Sf3a1
Name

splicing factor 3a, subunit 1
Synonyms

1200014H24Rik, 5930416L09Rik

Feature Type

protein coding gene
IDs

MGI:1914715
NCBI Gene: 67465
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr11:4110354-4132541 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 2.91 cM
Mapping Data

2 experiments

SNPs within 2kb

520 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914715	protein coding gene	Chr11:4110350-4132541 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017977	protein coding gene	Chr11:1090363-1113320 (+)
A/J	MGP_AJ_G0017950	protein coding gene	Chr11:1103564-1125737 (+)
AKR/J	MGP_AKRJ_G0017914	protein coding gene	Chr11:1159232-1181417 (+)
BALB/cJ	MGP_BALBcJ_G0017918	protein coding gene	Chr11:1072701-1094884 (+)
C3H/HeJ	MGP_C3HHeJ_G0017731	protein coding gene	Chr11:1052208-1074356 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018371	protein coding gene	Chr11:1173338-1195515 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016029	protein coding gene	Chr11:981859-1006034 (+)
CAST/EiJ	MGP_CASTEiJ_G0017293	protein coding gene	Chr11:1018503-1040844 (+)
CBA/J	MGP_CBAJ_G0017706	protein coding gene	Chr11:1414862-1437868 (+)
DBA/2J	MGP_DBA2J_G0017817	protein coding gene	Chr11:1007239-1029430 (+)
FVB/NJ	MGP_FVBNJ_G0017808	protein coding gene	Chr11:1041165-1063337 (+)
LP/J	MGP_LPJ_G0017887	protein coding gene	Chr11:1197990-1220164 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017834	protein coding gene	Chr11:1085958-1109195 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018410	protein coding gene	Chr11:1165706-1188981 (+)
PWK/PhJ	MGP_PWKPhJ_G0017074	protein coding gene	Chr11:1010761-1033159 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016870	protein coding gene	Chr11:1114460-1143921 (+)
WSB/EiJ	MGP_WSBEiJ_G0017347	protein coding gene	Chr11:1030295-1052491 (+)

Human Ortholog

SF3A1, splicing factor 3a subunit 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SF3A1, splicing factor 3a subunit 1
Synonyms

PRP21, PRPF21, SAP114, SF3A120
Links

HGNC:10765

NCBI Gene ID: 10291

neXtProt AC: NX_Q15459

UniProt: Q15459
Chr Location

22q12.2; chr22:30331988-30356919 (-) GRCh38

MGI Vertebrate Homology

Sf3a1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SF3A1
Gene Tree

Sf3a1

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
7 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
Endonuclease-mediated

1
Gene trapped

3
Targeted

6
Transgenic

1
Incidental Mutations

CvDC
Find Mice (IMSR)

26 strains or lines available

Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality.

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All GO Annotations

29
GO References

6

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

728
Tissues

22
cDNA Data

277
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sf3a1

ZFIN sf3a1

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All Sequences

70
RefSeq

2
UniProt

2
CCDS

CCDS24380.1

Ensembl

ENSMUSG00000002129 (Evidence)
NCBI Gene

67465

			Length	Strain/Species	Flank
genomic	67465	NCBI Gene Model \| MGI Sequence Detail	22188	C57BL/6J	± kb
transcript	NM_026175	RefSeq \| MGI Sequence Detail	4916	C57BL/6
polypeptide	Q8K4Z5	UniProt \| EBI \| MGI Sequence Detail	791	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000014731 splicing factor 3 subunit 1

(term hierarchy)
PDB

1WE7
InterPro Domains

IPR045146 Splicing factor 3A subunit 1

IPR022030 Splicing factor 3A subunit 1, conserved domain

IPR035563 Splicing factor 3A subunit 1, ubiquitin domain

IPR000061 SWAP/Surp

IPR035967 SWAP/Surp superfamily

IPR000626 Ubiquitin-like domain

IPR029071 Ubiquitin-like domain superfamily
GlyGen

Q8K4Z5 1 site, 1 O-linked glycan (1 site)

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All nucleic 279

cDNA 278

Primer pair 1

Microarray probesets 6

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MGI:1924358, MGI:2144075

Summaries

All 35

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:355635 Diaz-Hernandez JI, et al., Age-related nuclear translocation of P2X6 subunit modifies splicing activity interacting with splicing factor 3A1. PLoS One. 2015;10(4):e0123121

TSS for Sf3a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr100096	Chr11:4110348-4110404 (+)	22 bp
Tssr3411	Chr11:4110425-4110427 (+)	72 bp
Tssr100097	Chr11:4110508-4110518 (+)	159 bp
Tssr100098	Chr11:4111094-4111119 (+)	753 bp
Tssr100099	Chr11:4125054-4125078 (+)	14,712 bp
Tssr100100	Chr11:4128112-4128140 (+)	17,772 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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