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
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr5:36050713-36161267 bp, + strand
From NCBI annotation of GRCm39
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

3603 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	Chr5:36050663-36161267 (+)
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

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AFAP1, actin filament associated protein 1
Synonyms

AFAP, AFAP-110, AFAP110
Links

HGNC:24017

NCBI Gene ID: 60312

neXtProt AC: NX_Q8N556

UniProt: Q8N556
Chr Location

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

MGI Vertebrate Homology

Afap1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AFAP1
Gene Tree

Afap1

Diseases

1 with human AFAP1 associations

				Human Disease	Mouse Models
				open-angle glaucoma IDs open-angle glaucoma DOID:1067 EFO:0004190 ICD10CM:H40.1 ICD9CM:365.1 ICD9CM:365.10 ICD9CM:365.13 MESH:D005902 NCI:C34641 OMIM:137750 OMIM:177700 OMIM:602429 OMIM:603383 OMIM:606689 OMIM:608695 OMIM:608696 OMIM:609745 OMIM:609887 OMIM:610535 OMIM:611274 OMIM:611276 OMIM:613100 UMLS_CUI:C0017612

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

References

1 with disease annotations

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Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
29 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

31
Chemically induced (ENU)

1
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

16
Radiation induced

4
Spontaneous

1
Targeted

5
Genomic Mutations

8 involving Afap1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

59 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

15
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

711
Tissues

3
cDNA Data

52
Literature Summary

5

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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All Sequences

56
RefSeq

8
UniProt

5
CCDS

CCDS19236.1

Ensembl

ENSMUSG00000029094 (Evidence)
NCBI Gene

70292

			Length	Strain/Species	Flank
genomic	70292	NCBI Gene Model \| MGI Sequence Detail	110555	C57BL/6J	± kb
transcript	NM_001403419	RefSeq \| MGI Sequence Detail	6835	C57BL/6
polypeptide	Q80YS6	UniProt \| EBI \| 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

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 63

Developmental Gene Expression 5

Diseases 1

Gene Ontology 6

Phenotypes 29
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:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Afap1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45965	Chr5:36050704-36050770 (+)	24 bp
Tssr45966	Chr5:36050774-36050817 (+)	83 bp
Tssr45967	Chr5:36071053-36071056 (+)	20,342 bp
Tssr45968	Chr5:36108225-36108239 (+)	57,519 bp
Tssr45969	Chr5:36116223-36116229 (+)	65,513 bp
Tssr45970	Chr5:36157698-36157703 (+)	106,988 bp
Tssr45971	Chr5:36159390-36159434 (+)	108,699 bp
Tssr45972	Chr5:36160746-36160756 (+)	110,038 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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