Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55745
Gene name	Adaptor related protein complex 5 subunit mu 1
Gene symbol	AP5M1
Synonyms (NCBI Gene)	C14orf108MUDENGMu5MuD
Chromosome	14
Chromosome location	14q22.3

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016437	hsa-miR-193b-3p	Microarray	20304954
MIRT030579	hsa-miR-24-3p	Microarray	19748357
MIRT719645	hsa-miR-5571-5p	HITS-CLIP	19536157
MIRT719644	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT719643	hsa-miR-8060	HITS-CLIP	19536157
MIRT719642	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT719641	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT719640	hsa-miR-3612	HITS-CLIP	19536157
MIRT719639	hsa-miR-650	HITS-CLIP	19536157
MIRT719638	hsa-miR-7154-5p	HITS-CLIP	19536157
MIRT719637	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT719636	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT719635	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT624719	hsa-miR-8485	HITS-CLIP	19536157
MIRT624718	hsa-miR-4789-3p	HITS-CLIP	19536157
MIRT624717	hsa-miR-181a-5p	HITS-CLIP	19536157
MIRT624716	hsa-miR-181b-5p	HITS-CLIP	19536157
MIRT624715	hsa-miR-181c-5p	HITS-CLIP	19536157
MIRT624714	hsa-miR-181d-5p	HITS-CLIP	19536157
MIRT624713	hsa-miR-4262	HITS-CLIP	19536157
MIRT385404	hsa-miR-8063	HITS-CLIP	19536157
MIRT385403	hsa-miR-4698	HITS-CLIP	19536157
MIRT715591	hsa-miR-8064	HITS-CLIP	19536157
MIRT669534	hsa-miR-6882-5p	HITS-CLIP	23824327
MIRT669533	hsa-miR-345-5p	HITS-CLIP	23824327
MIRT669532	hsa-miR-4513	HITS-CLIP	23824327
MIRT669531	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT669530	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT669529	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT669528	hsa-miR-3118	HITS-CLIP	23824327
MIRT669527	hsa-miR-4795-3p	HITS-CLIP	23824327
MIRT669526	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT669525	hsa-miR-4439	HITS-CLIP	23824327
MIRT669524	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT624719	hsa-miR-8485	HITS-CLIP	23824327
MIRT624718	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT624717	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT624716	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT624715	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT624714	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT624713	hsa-miR-4262	HITS-CLIP	23824327
MIRT385404	hsa-miR-8063	HITS-CLIP	23824327
MIRT385403	hsa-miR-4698	HITS-CLIP	23824327
MIRT719645	hsa-miR-5571-5p	HITS-CLIP	19536157
MIRT719644	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT719643	hsa-miR-8060	HITS-CLIP	19536157
MIRT719642	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT719641	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT719640	hsa-miR-3612	HITS-CLIP	19536157
MIRT719639	hsa-miR-650	HITS-CLIP	19536157
MIRT719638	hsa-miR-7154-5p	HITS-CLIP	19536157
MIRT719637	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT719636	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT719635	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT624719	hsa-miR-8485	HITS-CLIP	19536157
MIRT624718	hsa-miR-4789-3p	HITS-CLIP	19536157
MIRT624717	hsa-miR-181a-5p	HITS-CLIP	19536157
MIRT624716	hsa-miR-181b-5p	HITS-CLIP	19536157
MIRT624715	hsa-miR-181c-5p	HITS-CLIP	19536157
MIRT624714	hsa-miR-181d-5p	HITS-CLIP	19536157
MIRT624713	hsa-miR-4262	HITS-CLIP	19536157
MIRT385404	hsa-miR-8063	HITS-CLIP	19536157
MIRT385403	hsa-miR-4698	HITS-CLIP	19536157
MIRT715591	hsa-miR-8064	HITS-CLIP	19536157
MIRT669534	hsa-miR-6882-5p	HITS-CLIP	23824327
MIRT669533	hsa-miR-345-5p	HITS-CLIP	23824327
MIRT669532	hsa-miR-4513	HITS-CLIP	23824327
MIRT669531	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT669530	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT669529	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT669528	hsa-miR-3118	HITS-CLIP	23824327
MIRT669527	hsa-miR-4795-3p	HITS-CLIP	23824327
MIRT669526	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT669525	hsa-miR-4439	HITS-CLIP	23824327
MIRT669524	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT624719	hsa-miR-8485	HITS-CLIP	23824327
MIRT624718	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT624717	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT624716	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT624715	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT624714	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT624713	hsa-miR-4262	HITS-CLIP	23824327
MIRT385404	hsa-miR-8063	HITS-CLIP	23824327
MIRT385403	hsa-miR-4698	HITS-CLIP	23824327

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22022230
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	22022230
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IBA
GO:0005770	Component	Late endosome	IDA	22022230
GO:0005770	Component	Late endosome	NAS	22022230
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	22022230
GO:0005829	Component	Cytosol	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IDA	22022230
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	22022230
GO:0016197	Process	Endosomal transport	IBA
GO:0016197	Process	Endosomal transport	IMP	22022230
GO:0030119	Component	AP-type membrane coat adaptor complex	IBA
GO:0030119	Component	AP-type membrane coat adaptor complex	IDA	22022230
GO:0031902	Component	Late endosome membrane	IEA
GO:0044599	Component	AP-5 adaptor complex	NAS	22022230

MIM	HGNC	e!Ensembl
614368	20192	ENSG00000053770

Q9H0R1

Protein name

AP-5 complex subunit mu-1 (Adaptor-related protein complex 5 subunit mu-1) (Mu5) (Mu-2-related death-inducing protein) (MuD) (Putative HIV-1 infection-related protein)

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00928	Adap_comp_sub	196 → 476	Adaptor complexes medium subunit family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in various tumor cell lines including Jurkat, Hep-G2 and HeLa. {ECO:0000269|PubMed:18395520}.

Sequence

MAQRAVWLISHEPGTPLCGTVRFSRRYPTVEKRARVFNGASYVPVPEDGPFLKALLFELR
LLDDDKDFVESRDSCSRINKTSIYGLLIGGEELWPVVAFLKNDMIYACVPLVEQTLSPRP
PLISVSGVSQGFEFLFGIQDFLYSGQKNDSELNTKLSQLPDLLLQACPFGTLLDANLQNS
LDNTNFASVTQPQKQPAWKTGTYKGKPQVSISITEKVKSMQYDKQGIADTWQVVGTVTCK
CDLEGIMPNVTISLSLPTNGSPLQDILVHPCVTSLDSAILTSSSIDAMDDSAFSGPYKFP
FTPPLESFNLCFYTSQVPVPPILGFYQMKEEEVQLRITINLKLHESVKNNFEFCEAHIPF
YNRGPITHLEYKTSFGQLEVFREKSLLIWIIGQKFPKSMEISLSGTVTFGAKSHEKQPFD
PICTGETAYLKLHFRILDYTLTGCYADQHSVQVFASGKPKISAHRKLISSDYYIWNSKAP
APVTYGSLLL

Sequence length

490

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	22042692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	29870812		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31427081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	31616474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31427081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31633448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31616474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31616474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30928627, 8767524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhoids	Hemorrhoids	BEFREE	28322687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29662244, 9552061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	25897651, 40081374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31814027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30413811, 31427081, 31616474		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22042692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31616474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31814027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	9758353		★★★★★ ★☆☆☆☆ Found in Text Mining only

AP5M1 (adaptor related protein complex 5 subunit mu 1)