AP5M1

protein-coding

adaptor related protein complex 5 subunit mu 1, the group of Adaptor related protein complex 5

Gene summary

Involved in endosomal transport. Located in several cellular components, including cytosol; late endosome; and lysosome. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C14orf108
MUDENG

MANE transcript

NM_018229.4

Inheritance

—

ClinVar variants

P:2U:61B:3

Top phenotype

Macular dystrophy with or without extraocular features

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr14:57,268,924-57,298,742

External References & Databases

Ensembl (ENSG00000053770)

Transcript & Mutation Effects

hg38 • Region Span ~29.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AP5M1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 61

Macular dystrophy with or without extraocular featuresTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018229.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			61 clinvar	3 clinvar		64
nonsense		2 clinvar				2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	2	61	3	0	66

Highest pathogenic variant AF is 0.000008309996

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018229.4	RefSeq	NP_060699.3	8	MANE Select
ENST00000261558.8	Ensembl	ENSP00000261558.3	8	MANE Select
ENST00000431972.6	Ensembl	ENSP00000390531.2	9	Standard
ENST00000431972.7	Ensembl	ENSP00000390531.2	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein transport
endosomal transport

Cellular Component

lysosome
lysosomal membrane
late endosome
cytosol
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261558
Coding exons: 8
Length: 21171
Individuals with no LoFs: 125682
Homozygous LoFs: 0
Heterozygous LoFs: 66
Defined: 125748
p: 0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.127	245	251	0.977	0.0000120	3187
Missense (PolyPhen)		58	65.662	0.88331		853
Synonymous	-0.674	97	88.9	1.09	0.00000410	946
Loss of Function	1.22	17	23.4	0.727	0.00000125	287

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00024	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00018	0.00018	rare
South Asian	0.00099	0.00098	rare
Other	0.00033	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:18395520, it may play a role in cell death. {ECO:0000269|PubMed:18395520, ECO:0000269|PubMed:22022230}.;

Intolerance Scores

RVIS EVS: 0.66
RVIS percentile EVS: 84.55

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium