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Protein

AP-5 complex subunit mu-1

Gene

AP5M1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Biological processi

  • endosomal transport Source: UniProtKB
  • protein transport Source: UniProtKB-KW

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

SignaLinkiQ9H0R1.

Names & Taxonomyi

Protein namesi
Recommended name:
AP-5 complex subunit mu-1
Alternative name(s):
Adaptor-related protein complex 5 subunit mu-1
Short name:
Mu5
Mu-2-related death-inducing protein
Short name:
MuD
Putative HIV-1 infection-related protein
Gene namesi
Name:AP5M1
Synonyms:C14orf108, MUDENG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20192. AP5M1.

Subcellular locationi

GO - Cellular componenti

  • AP-type membrane coat adaptor complex Source: UniProtKB
  • cytosol Source: UniProtKB
  • late endosome Source: UniProtKB
  • late endosome membrane Source: UniProtKB-SubCell
  • lysosomal membrane Source: UniProtKB-SubCell
  • lysosome Source: UniProtKB
  • membrane Source: UniProtKB

Keywords - Cellular componenti

Cytoplasm, Endosome, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55745.
OpenTargetsiENSG00000053770.
PharmGKBiPA164723216.

Polymorphism and mutation databases

BioMutaiAP5M1.
DMDMi37537844.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001937951 – 490AP-5 complex subunit mu-1Add BLAST490

Proteomic databases

EPDiQ9H0R1.
MaxQBiQ9H0R1.
PaxDbiQ9H0R1.
PeptideAtlasiQ9H0R1.
PRIDEiQ9H0R1.

PTM databases

iPTMnetiQ9H0R1.
PhosphoSitePlusiQ9H0R1.

Expressioni

Tissue specificityi

Expressed in various tumor cell lines including Jurkat, Hep-G2 and HeLa.1 Publication

Gene expression databases

BgeeiENSG00000053770.
CleanExiHS_MUDENG.
ExpressionAtlasiQ9H0R1. baseline and differential.
GenevisibleiQ9H0R1. HS.

Organism-specific databases

HPAiHPA055768.
HPA057098.

Interactioni

Subunit structurei

Probably part of the adaptor protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1.

Protein-protein interaction databases

BioGridi120863. 7 interactors.
DIPiDIP-60180N.
IntActiQ9H0R1. 4 interactors.
STRINGi9606.ENSP00000261558.

Structurei

3D structure databases

ProteinModelPortaliQ9H0R1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini206 – 476MHDPROSITE-ProRule annotationAdd BLAST271

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0937. Eukaryota.
ENOG410XPFS. LUCA.
GeneTreeiENSGT00390000006191.
HOGENOMiHOG000113695.
InParanoidiQ9H0R1.
KOiK19023.
PhylomeDBiQ9H0R1.
TreeFamiTF331963.

Family and domain databases

InterProiView protein in InterPro
IPR028565. MHD.
PfamiView protein in Pfam
PF00928. Adap_comp_sub. 1 hit.
SUPFAMiSSF49447. SSF49447. 1 hit.
PROSITEiView protein in PROSITE
PS51072. MHD. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H0R1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAQRAVWLIS HEPGTPLCGT VRFSRRYPTV EKRARVFNGA SYVPVPEDGP
60 70 80 90 100
FLKALLFELR LLDDDKDFVE SRDSCSRINK TSIYGLLIGG EELWPVVAFL
110 120 130 140 150
KNDMIYACVP LVEQTLSPRP PLISVSGVSQ GFEFLFGIQD FLYSGQKNDS
160 170 180 190 200
ELNTKLSQLP DLLLQACPFG TLLDANLQNS LDNTNFASVT QPQKQPAWKT
210 220 230 240 250
GTYKGKPQVS ISITEKVKSM QYDKQGIADT WQVVGTVTCK CDLEGIMPNV
260 270 280 290 300
TISLSLPTNG SPLQDILVHP CVTSLDSAIL TSSSIDAMDD SAFSGPYKFP
310 320 330 340 350
FTPPLESFNL CFYTSQVPVP PILGFYQMKE EEVQLRITIN LKLHESVKNN
360 370 380 390 400
FEFCEAHIPF YNRGPITHLE YKTSFGQLEV FREKSLLIWI IGQKFPKSME
410 420 430 440 450
ISLSGTVTFG AKSHEKQPFD PICTGETAYL KLHFRILDYT LTGCYADQHS
460 470 480 490
VQVFASGKPK ISAHRKLISS DYYIWNSKAP APVTYGSLLL
Length:490
Mass (Da):54,767
Last modified:October 3, 2003 - v2
Checksum:iF8B2FE622A2B8BD9
GO
Isoform 2 (identifier: Q9H0R1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     241-284: CDLEGIMPNV...LDSAILTSSS → VRFFSGTCFI...KQQFLNGRVM
     285-490: Missing.

Note: May be due to an intron retention.
Show »
Length:284
Mass (Da):32,073
Checksum:i2294C5ED351ECB1B
GO

Sequence cautioni

The sequence BAD18791 differs from that shown. Reason: Frameshift at position 482.Curated
The sequence BAD18791 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti319V → A in CAB66620 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055484226G → R. Corresponds to variant dbSNP:rs10137359Ensembl.1
Natural variantiVAR_055485379E → D. Corresponds to variant dbSNP:rs10140245Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008407241 – 284CDLEG…LTSSS → VRFFSGTCFIVLFNIWRKVK FASCILNNIFYFHLKQQFLN GRVM in isoform 2. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_008408285 – 490Missing in isoform 2. 1 PublicationAdd BLAST206

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136685 mRNA. Translation: CAB66620.1.
AK001675 mRNA. Translation: BAA91828.1.
AK172824 mRNA. Translation: BAD18791.1. Sequence problems.
BC013174 mRNA. Translation: AAH13174.1.
AF094583 mRNA. Translation: AAC78130.1.
CCDSiCCDS9729.1. [Q9H0R1-1]
RefSeqiNP_060699.3. NM_018229.3. [Q9H0R1-1]
UniGeneiHs.597349.
Hs.720252.

Genome annotation databases

EnsembliENST00000261558; ENSP00000261558; ENSG00000053770. [Q9H0R1-1]
GeneIDi55745.
KEGGihsa:55745.
UCSCiuc001xcv.4. human. [Q9H0R1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAP5M1_HUMAN
AccessioniPrimary (citable) accession number: Q9H0R1
Secondary accession number(s): O95354
, Q6ZMD7, Q96DX3, Q9NVC5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: October 3, 2003
Last modified: August 30, 2017
This is version 122 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families