Col27a1 MGI Mouse Gene Detail - MGI:2672118 - collagen, type XXVII, alpha 1

Symbol

Col27a1
Name

collagen, type XXVII, alpha 1
Synonyms

5730512J02Rik

Feature Type

protein coding gene
IDs

MGI:2672118
NCBI Gene: 373864
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr4:63132246-63253228 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 33.96 cM, cytoband C1
Mapping Data

3 experiments

SNPs within 2kb

3551 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2672118	protein coding gene	Chr4:63132241-63253228 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028363	protein coding gene	Chr4:62220705-62344333 (+)
A/J	MGP_AJ_G0028324	protein coding gene	Chr4:59971025-60092568 (+)
AKR/J	MGP_AKRJ_G0028273	protein coding gene	Chr4:61613621-61733935 (+)
BALB/cJ	MGP_BALBcJ_G0028344	protein coding gene	Chr4:60137262-60259599 (+)
C3H/HeJ	MGP_C3HHeJ_G0028062	protein coding gene	Chr4:62129061-62255263 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028784	protein coding gene	Chr4:64353922-64475714 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026090	protein coding gene	Chr4:57306525-57426562 (+)
CAST/EiJ	MGP_CASTEiJ_G0027498	protein coding gene	Chr4:60099847-60226229 (+)
CBA/J	MGP_CBAJ_G0028029	protein coding gene	Chr4:66593449-66727972 (+)
DBA/2J	MGP_DBA2J_G0028179	protein coding gene	Chr4:59826844-59948032 (+)
FVB/NJ	MGP_FVBNJ_G0028144	protein coding gene	Chr4:59078257-59204351 (+)
LP/J	MGP_LPJ_G0028276	protein coding gene	Chr4:62484973-62611988 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028171	protein coding gene	Chr4:69689692-69816451 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028820	protein coding gene	Chr4:61721661-61847353 (+)
PWK/PhJ	MGP_PWKPhJ_G0027225	protein coding gene	Chr4:58317649-58441433 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027054	protein coding gene	Chr4:59182223-59300405 (+)
WSB/EiJ	MGP_WSBEiJ_G0027578	protein coding gene	Chr4:61723438-61848432 (+)

Human Ortholog

COL27A1, collagen type XXVII alpha 1 chain

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COL27A1, collagen type XXVII alpha 1 chain
Synonyms

STLS
Links

HGNC:22986

NCBI Gene ID: 85301

neXtProt AC: NX_Q8IZC6

UniProt: Q8IZC6
Chr Location

9q32; chr9:114154098-114312511 (+) GRCh38

MGI Vertebrate Homology

Col27a1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: COL27A1
Gene Tree

Col27a1

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Phenotype Summary

44 phenotypes from 3 alleles in 3 genetic backgrounds
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

7
Endonuclease-mediated

3
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

79 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia.

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All GO Annotations

14
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

997
Tissues

80
cDNA Data

30
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase col27a1

ZFIN col27a1a, col27a1b

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All Sequences

73
RefSeq

24
UniProt

3
CCDS

CCDS18250.1

Ensembl

ENSMUSG00000045672 (Evidence)
NCBI Gene

373864

			Length	Strain/Species	Flank
genomic	373864	NCBI Gene Model \| MGI Sequence Detail	120983	C57BL/6J	± kb
transcript	NM_025685	RefSeq \| MGI Sequence Detail	7635	C57BL/6
polypeptide	Q5QNQ9	UniProt \| EBI \| MGI Sequence Detail	1845	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000005710 collagen alpha-1(XXVII) chain

(term hierarchy)
InterPro Domains

IPR050149 Collagen superfamily

IPR008160 Collagen triple helix repeat

IPR013320 Concanavalin A-like lectin/glucanase domain superfamily

IPR000885 Fibrillar collagen, C-terminal

IPR048287 Thrombospondin-like, N-terminal domain
GlyGen

Q5QNQ9 3 sites

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All nucleic 36

Genomic 2

cDNA 30

Primer pair 3

Other 1

Microarray probesets 5

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MGI:1913902, MGI:2140286

Summaries

All 37

Developmental Gene Expression 7

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

TSS for Col27a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr1192	Chr4:63132261-63132274 (+)	22 bp
Tssr37533	Chr4:63132325-63132338 (+)	86 bp
Tssr37534	Chr4:63132371-63132387 (+)	133 bp
Tssr37535	Chr4:63133639-63133661 (+)	1,404 bp
Tssr37536	Chr4:63133777-63133786 (+)	1,536 bp
Tssr37537	Chr4:63133794-63133805 (+)	1,554 bp
Tssr37538	Chr4:63201741-63201754 (+)	69,502 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