Cep131 MGI Mouse Gene Detail - MGI:107440

Symbol

Cep131
Name

centrosomal protein 131
Synonyms

AZ1, Azi1

Feature Type

protein coding gene
IDs

MGI:107440
NCBI Gene: 12009
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr11:119955256-119977653 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 83.96 cM, cytoband E2
Mapping Data

1 experiment

SNPs within 2kb

636 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107440	protein coding gene	Chr11:119955247-119977684 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019489	protein coding gene	Chr11:124497554-124521592 (-)
A/J	MGP_AJ_G0019457	protein coding gene	Chr11:118966589-118990207 (-)
AKR/J	MGP_AKRJ_G0019427	protein coding gene	Chr11:122546137-122568382 (-)
BALB/cJ	MGP_BALBcJ_G0019432	protein coding gene	Chr11:119324073-119346820 (-)
C3H/HeJ	MGP_C3HHeJ_G0019238	protein coding gene	Chr11:122868289-122891631 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019881	protein coding gene	Chr11:128267240-128294788 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017506	protein coding gene	Chr11:115970019-115993582 (-)
CAST/EiJ	MGP_CASTEiJ_G0018792	protein coding gene	Chr11:124346273-124373569 (-)
CBA/J	MGP_CBAJ_G0019209	protein coding gene	Chr11:133280958-133309534 (-)
DBA/2J	MGP_DBA2J_G0019321	protein coding gene	Chr11:118333628-118356205 (-)
FVB/NJ	MGP_FVBNJ_G0019313	protein coding gene	Chr11:118023040-118046091 (-)
LP/J	MGP_LPJ_G0019393	protein coding gene	Chr11:124807538-124831224 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019346	protein coding gene	Chr11:132150065-132172365 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019920	protein coding gene	Chr11:123229649-123252121 (-)
PWK/PhJ	MGP_PWKPhJ_G0018558	protein coding gene	Chr11:119761249-119784656 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018350	protein coding gene	Chr11:122994869-123021981 (-)
WSB/EiJ	MGP_WSBEiJ_G0018844	protein coding gene	Chr11:123224009-123249294 (-)

Human Ortholog

CEP131, centrosomal protein 131

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CEP131, centrosomal protein 131
Synonyms

AZ1, AZI1, ZA1
Links

HGNC:29511

NCBI Gene ID: 22994

neXtProt AC: NX_Q9UPN4

UniProt: Q9UPN4
Chr Location

17q25.3; chr17:81189593-81222999 (-) GRCh38

MGI Vertebrate Homology

Cep131 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CEP131
Gene Tree

Cep131

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Phenotype Summary

23 phenotypes from 1 allele in 1 genetic background
8 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

8
Gene trapped

5
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

32 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit partial preweaning lethality with no apparent defects in cilia formation or function. However, homozygotes display complete male infertility associated with spermiogenesis arrest, severe flagellar defects, and teratozoospermia.

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All GO Annotations

42
GO References

10

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

706
cDNA Data

31

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cep131

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All Sequences

49
RefSeq

10
UniProt

2
CCDS

CCDS36386.2

Ensembl

ENSMUSG00000039781 (Evidence)
NCBI Gene

12009

			Length	Strain/Species	Flank
genomic	ENSMUSG00000039781	Ensembl Gene Model \| MGI Sequence Detail	22398	C57BL/6J	± kb
transcript	ENSMUST00000106229	Ensembl \| MGI Sequence Detail	3581	Not Applicable
polypeptide	ENSMUSP00000101836	Ensembl \| MGI Sequence Detail	1060	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004531 centrosomal protein of 131 kDa

(term hierarchy)
InterPro Domains

IPR030465 Centrosomal protein of 131kDa
GlyGen

Q62036 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 34

Genomic 3

cDNA 31

Microarray probesets 3

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MGD-MRK-35911

Summaries

All 33

Gene Ontology 10

Phenotypes 8
Earliest

J:30050 Aoto H, et al., Isolation of a novel cDNA that encodes a protein localized to the pre-acrosome region of spermatids. Eur J Biochem. 1995 Nov 15;234(1):8-15
Latest

J:207969 Chamling X, et al., The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 2014 Feb;10(2):e1004083

TSS for Cep131:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr112263	Chr11:119977616-119977678 (-)	6 bp
Tssr112262	Chr11:119977594-119977606 (-)	53 bp
Tssr112261	Chr11:119961495-119961512 (-)	16,149 bp
Tssr112260	Chr11:119961414-119961421 (-)	16,235 bp
Tssr112259	Chr11:119961389-119961400 (-)	16,258 bp
Tssr112258	Chr11:119961372-119961378 (-)	16,278 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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