Afap1 MGI Mouse Gene Detail - MGI:1917542 - actin filament associated protein 1

Symbol

Afap1
Name

actin filament associated protein 1
Synonyms

2600003E23Rik, 9630044L16Rik, mKIAA3018

Feature Type

protein coding gene
IDs

MGI:1917542
NCBI Gene: 70292
Gene Overview

MyGene.info: AFAP1
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr5:35893319-36003923 bp, + strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 19.02 cM, cytoband B1
Mapping Data

3 experiments

SNPs within 2kb

992 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1917542	protein coding gene	Chr5:35893318-36003923 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029485	protein coding gene	Chr5:34204149-34320113 (+)
A/J	MGP_AJ_G0029452	protein coding gene	Chr5:33081876-33194075 (+)
AKR/J	MGP_AKRJ_G0029401	protein coding gene	Chr5:34342330-34463022 (+)
BALB/cJ	MGP_BALBcJ_G0029462	protein coding gene	Chr5:33595481-33706744 (+)
C3H/HeJ	MGP_C3HHeJ_G0029184	protein coding gene	Chr5:34354407-34476111 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029916	protein coding gene	Chr5:36104389-36215553 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027153	protein coding gene	Chr5:30836428-30948423 (+)
CAST/EiJ	MGP_CASTEiJ_G0028593	protein coding gene	Chr5:33455610-33576245 (+)
CBA/J	MGP_CBAJ_G0029152	protein coding gene	Chr5:36956383-37089101 (+)
DBA/2J	MGP_DBA2J_G0029300	protein coding gene	Chr5:33226137-33337039 (+)
FVB/NJ	MGP_FVBNJ_G0029259	protein coding gene	Chr5:32696440-32809771 (+)
LP/J	MGP_LPJ_G0029385	protein coding gene	Chr5:34620484-34753388 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029289	protein coding gene	Chr5:37735716-37855759 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029949	protein coding gene	Chr5:33837384-33958346 (+)
PWK/PhJ	MGP_PWKPhJ_G0028318	protein coding gene	Chr5:32394612-32507491 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028149	protein coding gene	Chr5:33311162-33419905 (+)
WSB/EiJ	MGP_WSBEiJ_G0028674	protein coding gene	Chr5:33902794-34020301 (+)

Human Ortholog

AFAP1, actin filament associated protein 1

Vertebrate Orthologs

10

Human Ortholog

AFAP1, actin filament associated protein 1
Orthology source: HomoloGene, HGNC
Synonyms

AFAP, AFAP110, AFAP-110
Links

HGNC:24017

NCBI Gene ID: 60312

neXtProt AC: NX_Q8N556

UniProt: Q8N556
Chr Location

4p16.1; chr4:7758713-7939926 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 11009
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: AFAP1
Gene Tree

Afap1

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References

1 with disease annotations

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Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
28 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

37
Chemically induced (ENU)

1
Chemically induced (other)

2
Gene trapped

24
Radiation induced

4
Spontaneous

1
Targeted

5
Genomic Mutations

8 involving Afap1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit inability to nurse pups due to failed secretory activation, reduced milk lipid synthesis and precocious mammary gland involution.

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All GO Annotations

14
GO References

5

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

2
Tissues

2
cDNA Data

52
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase afap1

ZFIN afap1

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Afap1 interacts with 386 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

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All Sequences

56
RefSeq

8
UniProt

5
CCDS

CCDS19236.1
UniGene

125167

Ensembl

ENSMUSG00000029094 (Evidence)
NCBI Gene

70292

			Length	Strain/Species	Flank
genomic	ENSMUSG00000029094	Ensembl Gene Model \| MGI Sequence Detail	110605	C57BL/6J	± kb
transcript	ENSMUST00000064571	Ensembl \| MGI Sequence Detail	6618	Not Applicable
polypeptide	ENSMUSP00000067779	Ensembl \| MGI Sequence Detail	731	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000003802 actin filament-associated protein 1

(term hierarchy)
InterPro Domains

IPR030113 Actin-filament associated protein

IPR029907 Actin filament-associated protein 1

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

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All nucleic 52

cDNA 52

Microarray probesets 5

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MGI:2140986

Summaries

All 60

Developmental Gene Expression 4

Diseases 1

Gene Ontology 5

Phenotypes 28
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

J:221250 Cunnick JM, et al., Actin filament-associated protein 1 is required for cSrc activity and secretory activation in the lactating mammary gland. Oncogene. 2015 May 14;34(20):2640-9

TSS for Afap1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45965	Chr5:35893360-35893426 (+)	74 bp
Tssr45966	Chr5:35893430-35893473 (+)	133 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 & Copyright Notice Send questions and comments to User Support.	last database update 10/01/2019 MGI 6.14