AP4M1 adaptor related protein complex 4 subunit mu 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AP4M1provided by HGNC
Official Full Name: adaptor related protein complex 4 subunit mu 1provided by HGNC
Primary source: HGNC:HGNC:574
See related: Ensembl:ENSG00000221838 MIM:602296; AllianceGenome:HGNC:574
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MU-4; CPSQ3; SPG50; MU-ARP2
Summary: This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 12.8), endometrium (RPKM 6.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100100794..100109039)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (101340729..101348885)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (99699266..99706662)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
Title: Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Title: Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.
Title: A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.
AP4M1 mutation is associated with hereditary spastic paraplegia.
Title: Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
Here, the authors demonstrate that dileucine motifs in the hepatitis C virus NS2 protein mediate AP-1A, AP-1B, and AP-4 binding and cell-free virus release. Moreover, they reveal that AP-4, an adaptor not previously implicated in viral infections, mediates cell-to-cell spread and hepatitis C virus trafficking.
Title: Interactions between the Hepatitis C Virus Nonstructural 2 Protein and Host Adaptor Proteins 1 and 4 Orchestrate Virus Release.
analysis of the AP4M1 mutation associated with aggressive behavior in addition to mild dysmorphic features, intellectual disability, spastic paraparesis and reduced head circumference [case report]
Title: A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
In all five patients with autosomal-recessive type of tetraplegic cerebral palsy with mental retardation, a donor splice site pathogenic mutation in intron 14 of the AP4M1 gene (c.1137+1G-->T), was identified.
Title: Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
AP-4 protein complex is involved in the regulation of somatodendritic-specific distribution of its cargo proteins including AMPA receptors.
Title: Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4.
Results show that AP-4 can bind different types of cytosolic signals known to mediate basolateral transport in epithelial cells. Depletion of mu 4 results in the mis-sorting of several proteins in epithelial cells.
Title: AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary spastic paraplegia 50 MedGen: C2752008 OMIM: 612936 GeneReviews: AP-4-Associated Hereditary Spastic Paraplegia	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68321 (e-PCR)
- UniSTS:41030

SHGC-144694 (e-PCR)
- UniSTS:172359

STS-F01487 (e-PCR)
- UniSTS:78958

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IDA Inferred from Direct Assay more info	PubMed
enables protein transmembrane transporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in Golgi to endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Golgi to lysosome transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi to lysosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-Golgi vesicle-mediated transport	TAS Traceable Author Statement more info
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein targeting	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting to lysosome	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of AP-4 adaptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of AP-4 adaptor complex	NAS Non-traceable Author Statement more info	PubMed
part_of clathrin adaptor complex	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	NAS Non-traceable Author Statement more info	PubMed
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: AP-4 complex subunit mu-1

Names: AP-4 adaptor complex mu subunit; adapter-related protein complex 4 mu-1 subunit; adapter-related protein complex 4 subunit mu-1; adaptor related protein complex 4 mu 1 subunit; adaptor-related protein complex AP-4 mu4 subunit; mu subunit of AP-4; mu-adaptin-related protein-2; mu4; mu4-adaptin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016312.1 RefSeqGene

Range

5137..12533

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001363671.2 → NP_001350600.1 AP-4 complex subunit mu-1 isoform 2

Status: REVIEWED

Source sequence(s)

AC073842

Consensus CDS

CCDS87527.1

UniProtKB/TrEMBL

A0AAQ5BGV5, C9JC87

Related

ENSP00000403663.1, ENST00000429084.5

Conserved Domains (2) summary

cl02092
Location:64 → 137

Clat_adaptor_s; Clathrin adaptor complex small chain

cd09253
Location:182 → 460

AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
NM_004722.4 → NP_004713.2 AP-4 complex subunit mu-1 isoform 1

See identical proteins and their annotated locations for NP_004713.2

Status: REVIEWED

Source sequence(s)

AC073842, AF020796, BC012023, DC413622, Y08387

Consensus CDS

CCDS5685.1

UniProtKB/Swiss-Prot

D6W5U1, O00189, Q8WV65, Q9UHK9

UniProtKB/TrEMBL

A0AAQ5BGV5

Related

ENSP00000352603.4, ENST00000359593.9

Conserved Domains (2) summary

cd09253
Location:175 → 453

AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4

cd14838
Location:3 → 141

AP4_Mu_N; AP-4 complex subunit mu N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

100100794..100109039

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421025.1 → XP_047276981.1 AP-4 complex subunit mu-1 isoform X2

UniProtKB/Swiss-Prot

D6W5U1, O00189, Q8WV65, Q9UHK9

UniProtKB/TrEMBL

A0AAQ5BGV5

Related

ENSP00000519097.1, ENST00000713791.1
XM_047421024.1 → XP_047276980.1 AP-4 complex subunit mu-1 isoform X1

UniProtKB/TrEMBL

A0AAQ5BGV5, C9JC87
XM_047421026.1 → XP_047276982.1 AP-4 complex subunit mu-1 isoform X2

UniProtKB/Swiss-Prot

D6W5U1, O00189, Q8WV65, Q9UHK9

UniProtKB/TrEMBL

A0AAQ5BGV5

Related

ENSP00000518888.1, ENST00000713591.1
XM_005250689.5 → XP_005250746.1 AP-4 complex subunit mu-1 isoform X1

See identical proteins and their annotated locations for XP_005250746.1

UniProtKB/TrEMBL

A0AAQ5BGV5, C9JC87

Conserved Domains (2) summary

cl02092
Location:64 → 137

Clat_adaptor_s; Clathrin adaptor complex small chain

cd09253
Location:182 → 460

AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
XM_005250690.5 → XP_005250747.1 AP-4 complex subunit mu-1 isoform X5

See identical proteins and their annotated locations for XP_005250747.1

UniProtKB/TrEMBL

A0AAQ5BGV5, C9JWL4

Related

ENSP00000401613.2, ENST00000438383.6

Conserved Domains (1) summary

cd09253
Location:107 → 385

AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
XM_006716175.5 → XP_006716238.1 AP-4 complex subunit mu-1 isoform X3

UniProtKB/TrEMBL

A0AAQ5BGV5

Conserved Domains (2) summary

cl02092
Location:64 → 137

Clat_adaptor_s; Clathrin adaptor complex small chain

cl10970
Location:182 → 419

AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)
XM_024446995.2 → XP_024302763.1 AP-4 complex subunit mu-1 isoform X4

UniProtKB/TrEMBL

A0AAQ5BGV5, H7C0A0

Related

ENSP00000393723.2, ENST00000445295.2

Conserved Domains (2) summary

cl02092
Location:1 → 130

Clat_adaptor_s; Clathrin adaptor complex small chain

cl10970
Location:175 → 412

AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)
XM_047421028.1 → XP_047276984.1 AP-4 complex subunit mu-1 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

101340729..101348885

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054359319.1 → XP_054215294.1 AP-4 complex subunit mu-1 isoform X2

UniProtKB/Swiss-Prot

D6W5U1, O00189, Q8WV65, Q9UHK9

UniProtKB/TrEMBL

A0AAQ5BGV5
XM_054359317.1 → XP_054215292.1 AP-4 complex subunit mu-1 isoform X1

UniProtKB/TrEMBL

A0AAQ5BGV5, C9JC87
XM_054359318.1 → XP_054215293.1 AP-4 complex subunit mu-1 isoform X2

UniProtKB/Swiss-Prot

D6W5U1, O00189, Q8WV65, Q9UHK9

UniProtKB/TrEMBL

A0AAQ5BGV5
XM_054359322.1 → XP_054215297.1 AP-4 complex subunit mu-1 isoform X5

UniProtKB/TrEMBL

A0AAQ5BGV5, C9JWL4
XM_054359320.1 → XP_054215295.1 AP-4 complex subunit mu-1 isoform X3

UniProtKB/TrEMBL

A0AAQ5BGV5
XM_054359321.1 → XP_054215296.1 AP-4 complex subunit mu-1 isoform X4

UniProtKB/TrEMBL

A0AAQ5BGV5, H7C0A0
XM_054359323.1 → XP_054215298.1 AP-4 complex subunit mu-1 isoform X6