Serpina3k MGI Mouse Gene Detail - MGI:98377 - serine (or cysteine) peptidase inhibitor, clade A, member 3K

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Serpina3k Gene Detail

Symbol

Serpina3k
Name

serine (or cysteine) peptidase inhibitor, clade A, member 3K
Synonyms

1300001I07Rik, alpha-1 antiproteinase, contrapsin, D12Rp54, MMCM2, MMSpi2, RP54, Spi-2, Spi2

Feature Type

protein coding gene
IDs

MGI:98377
NCBI Gene: 20714
Alliance

gene page
Transcription Start Sites

27 TSS

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Sequence Map

Chr12:104304745-104311998 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 53.99 cM, cytoband F1
Mapping Data

12 experiments

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SNPs within 2kb

332 from dbSNP Build 142
Strain Annotations

17
RFLP

6

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_98377	protein coding gene	Chr12:104304745-104312403 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020074	protein coding gene	Chr12:106109681-106117337 (+)
A/J	MGP_AJ_G0020028	protein coding gene	Chr12:102100750-102108408 (+)
AKR/J	MGP_AKRJ_G0020005	protein coding gene	Chr12:105011319-105018975 (+)
BALB/cJ	MGP_BALBcJ_G0020014	protein coding gene	Chr12:102481456-102489112 (+)
C3H/HeJ	MGP_C3HHeJ_G0019816	protein coding gene	Chr12:105459091-105496720 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020460	protein coding gene	Chr12:109439002-109447456 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018073	protein coding gene	Chr12:98817002-98820256 (+)
CAST/EiJ	MGP_CASTEiJ_G0019359	protein coding gene	Chr12:100312785-100320445 (+)
CBA/J	MGP_CBAJ_G0019784	protein coding gene	Chr12:113587962-113597062 (+)
DBA/2J	MGP_DBA2J_G0019901	protein coding gene	Chr12:101608994-101616650 (+)
FVB/NJ	MGP_FVBNJ_G0019886	protein coding gene	Chr12:100395109-100402639 (+)
LP/J	MGP_LPJ_G0019976	protein coding gene	Chr12:105959395-105967051 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019924	protein coding gene	Chr12:117066571-117075416 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020489	protein coding gene	Chr12:104473474-104481687 (+)
PWK/PhJ	no annotation
SPRET/EiJ	MGP_SPRETEiJ_G0018922	protein coding gene	Chr12:98702689-98710040 (+)
WSB/EiJ	MGP_WSBEiJ_G0019417	protein coding gene	Chr12:105404335-105496080 (+)

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Human Ortholog

SERPINA3, serpin family A member 3

Vertebrate Orthologs

11

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SERPINA3, serpin family A member 3
Synonyms

AACT, ACT, GIG24, GIG25
Links

HGNC:16

NCBI Gene ID: 12

neXtProt AC: NX_P01011

UniProt: P01011
Chr Location

14q32.13; chr14:94612384-94624055 (+) GRCh38

MGI Vertebrate Homology

Serpina3k stringent orthology
1 human;1 mouse;3 rat;7 zebrafish
HCOP

vertebrate homology predictions: SERPINA3
Gene Tree

Serpina3k

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Diseases

3 with human SERPINA3 associations

				Human Disease	Mouse Models
				chronic obstructive pulmonary disease IDs chronic obstructive pulmonary disease DOID:3083 DOID:11500 DOID:6144 EFO:0000341 ICD10CM:J44.9 MESH:D029424 NCI:C3199 OMIM:606963 UMLS_CUI:C0024117
				cystic fibrosis IDs cystic fibrosis DOID:1485 DOID:12447 DOID:13383 DOID:14395 DOID:1484 ICD10CM:E84 ICD9CM:277.0 MESH:D003550 NCI:C2975 OMIM:219700 ORDO:586 UMLS_CUI:C0010674
				vasculitis IDs vasculitis DOID:865 MESH:D014657 NCI:C26912 UMLS_CUI:C0042384

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

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Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
6 phenotype references

Phenotype Overview

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

4
Chemically induced (other)

1
Endonuclease-mediated

1
Targeted

2
Genomic Mutations

1 involving Serpina3k
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele are viable and show decreased susceptibility to kidney reperfusion injury

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All GO Annotations

10
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

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

763
Tissues

16
cDNA Data

513
Literature Summary

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase serpina3k

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All Sequences

37
RefSeq

2
UniProt

2
CCDS

CCDS36537.1

Ensembl

ENSMUSG00000058207 (Evidence)
NCBI Gene

20714

Representative Sequences				Length	Strain/Species	Flank
	genomic	20714	NCBI Gene Model \| MGI Sequence Detail	7254	C57BL/6J	± kb
	transcript	NM_011458	RefSeq \| MGI Sequence Detail	1652	ZRU/MplStud
	polypeptide	P07759	UniProt \| EBI \| MGI Sequence Detail	418	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000015938 serine protease inhibitor A3K

(term hierarchy)
InterPro Domains

IPR023795 Serpin, conserved site

IPR023796 Serpin domain

IPR000215 Serpin family

IPR036186 Serpin superfamily

IPR042178 Serpin superfamily, domain 1

IPR042185 Serpin superfamily, domain 2
GlyGen

P07759 5 sites, 9 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

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All nucleic 517

Genomic 1

cDNA 515

Other 1

Microarray probesets 4

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MGD-MRK-14022, MGD-MRK-14521, MGD-MRK-14526, MGD-MRK-3357, MGI:1915688

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Summaries

All 59

Developmental Gene Expression 4

Gene Ontology 8

Phenotypes 6
Earliest

J:5549 Wilcox FH, Genetic variation in plasma prealbumin of the house mouse. J Hered. 1975 Jan-Feb;66(1):19-22
Latest

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

TSS for Serpina3k:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr114842	Chr12:104304631-104304675 (+)	-92 bp
Tssr114843	Chr12:104305327-104305360 (+)	599 bp
Tssr114844	Chr12:104305454-104305496 (+)	730 bp
Tssr114845	Chr12:104305513-104305528 (+)	776 bp
Tssr114846	Chr12:104305598-104305617 (+)	863 bp
Tssr114847	Chr12:104305622-104305640 (+)	886 bp
Tssr114848	Chr12:104306742-104306747 (+)	2,000 bp
Tssr114849	Chr12:104306769-104306780 (+)	2,030 bp
Tssr114850	Chr12:104306786-104306824 (+)	2,060 bp
Tssr114851	Chr12:104306845-104306897 (+)	2,126 bp
Tssr114852	Chr12:104306902-104306929 (+)	2,171 bp
Tssr114853	Chr12:104307113-104307129 (+)	2,376 bp
Tssr114854	Chr12:104307256-104307299 (+)	2,533 bp
Tssr114855	Chr12:104309323-104309331 (+)	4,582 bp
Tssr114856	Chr12:104310379-104310386 (+)	5,638 bp
Tssr114857	Chr12:104310391-104310403 (+)	5,652 bp
Tssr114858	Chr12:104310463-104310487 (+)	5,730 bp
Tssr114859	Chr12:104311528-104311534 (+)	6,786 bp
Tssr114860	Chr12:104311548-104311570 (+)	6,814 bp
Tssr114861	Chr12:104311572-104311587 (+)	6,835 bp
Tssr114862	Chr12:104311603-104311613 (+)	6,863 bp
Tssr114863	Chr12:104311620-104311631 (+)	6,881 bp
Tssr114864	Chr12:104311670-104311676 (+)	6,928 bp
Tssr114865	Chr12:104311721-104311730 (+)	6,981 bp
Tssr114866	Chr12:104311734-104311761 (+)	7,003 bp
Tssr114867	Chr12:104311790-104311799 (+)	7,050 bp
Tssr114868	Chr12:104311807-104311818 (+)	7,068 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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