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Protein

Protein MAL2

Gene

MAL2

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

Functioni

Member of the machinery of polarized transport. Required for the indirect transcytotic route at the step of the egress of the transcytosing cargo from perinuclear endosomes in order for it to travel to the apical surface via a raft-dependent pathway.1 Publication

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein MAL2
Gene namesi
Name:MAL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:13634. MAL2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3434CytoplasmicSequence analysisAdd
BLAST
Transmembranei35 – 5521HelicalSequence analysisAdd
BLAST
Topological domaini56 – 6611LumenalSequence analysisAdd
BLAST
Transmembranei67 – 8721HelicalSequence analysisAdd
BLAST
Topological domaini88 – 10215CytoplasmicSequence analysisAdd
BLAST
Transmembranei103 – 12321HelicalSequence analysisAdd
BLAST
Topological domaini124 – 14926LumenalSequence analysisAdd
BLAST
Transmembranei150 – 17021HelicalSequence analysisAdd
BLAST
Topological domaini171 – 1766CytoplasmicSequence analysis

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB-SubCell
  • endomembrane system Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • membrane raft Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30566.

Polymorphism and mutation databases

BioMutaiMAL2.
DMDMi21263778.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 176176Protein MAL2PRO_0000156808Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi132 – 1321N-linked (GlcNAc...)2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ969L2.
MaxQBiQ969L2.
PeptideAtlasiQ969L2.
PRIDEiQ969L2.

PTM databases

PhosphoSiteiQ969L2.

Expressioni

Tissue specificityi

Predominantly expressed in kidney, lung, and liver. Also found in thyroid gland, stomach and, at lower levels in testis and small intestine.2 Publications

Gene expression databases

BgeeiENSG00000147676.
CleanExiHS_MAL2.
ExpressionAtlasiQ969L2. baseline and differential.
GenevisibleiQ969L2. HS.

Organism-specific databases

HPAiHPA043831.

Interactioni

Subunit structurei

Interacts with TPD52L2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ARFIP2P533653EBI-944295,EBI-638194
FAM3AQ9BU273EBI-944295,EBI-10298603
GAD2Q053293EBI-944295,EBI-9304251
PBX3Q5JS983EBI-944295,EBI-10244393
PTPN9P433783EBI-944295,EBI-742898
PTPN9Q6IQ433EBI-944295,EBI-10250413
RAB37Q96AX23EBI-944295,EBI-748121
SH3GL1Q6FGM03EBI-944295,EBI-10173690
TBRG4Q969Z03EBI-944295,EBI-702328
TUBBQ5SU163EBI-944295,EBI-10245038
VARS2Q5ST30-33EBI-944295,EBI-10244969

Protein-protein interaction databases

BioGridi125321. 17 interactions.
IntActiQ969L2. 14 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ969L2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini31 – 175145MARVELPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the MAL family.Curated
Contains 1 MARVEL domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00730000110762.
HOVERGENiHBG000925.
InParanoidiQ969L2.
OMAiTQINANW.
OrthoDBiEOG091G0OS1.
PhylomeDBiQ969L2.

Family and domain databases

InterProiIPR013295. MAL.
IPR033240. MAL2.
IPR008253. Marvel.
[Graphical view]
PANTHERiPTHR22776:SF42. PTHR22776:SF42. 1 hit.
PfamiPF01284. MARVEL. 1 hit.
[Graphical view]
PRINTSiPR01884. MALPROTEIN.
PROSITEiPS51225. MARVEL. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q969L2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSAGGASVPP PPNPAVSFPP PRVTLPAGPD ILRTYSGAFV CLEILFGGLV
60 70 80 90 100
WILVASSNVP LPLLQGWVMF VSVTAFFFSL LFLGMFLSGM VAQIDANWNF
110 120 130 140 150
LDFAYHFTVF VFYFGAFLLE AAATSLHDLH CNTTITGQPL LSDNQYNINV
160 170
AASIFAFMTT ACYGCSLGLA LRRWRP
Length:176
Mass (Da):19,125
Last modified:December 1, 2001 - v1
Checksum:iBACDA0BF3A26FD44
GO

Sequence cautioni

The sequence BAD18789 differs from that shown. Reason: Frameshift at position 166. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti92 – 921A → T.
Corresponds to variant rs2303398 [ dbSNP | Ensembl ].
VAR_050016

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY007723 mRNA. Translation: AAG15576.1.
AK172820 mRNA. Translation: BAD18789.1. Frameshift.
AK312030 mRNA. Translation: BAG34967.1.
CH471060 Genomic DNA. Translation: EAW91981.1.
BC012367 mRNA. Translation: AAH12367.1.
CCDSiCCDS75780.1.
RefSeqiNP_443118.1. NM_052886.2.
UniGeneiHs.201083.

Genome annotation databases

EnsembliENST00000614891; ENSP00000479708; ENSG00000147676.
GeneIDi114569.
KEGGihsa:114569.
UCSCiuc033bxh.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY007723 mRNA. Translation: AAG15576.1.
AK172820 mRNA. Translation: BAD18789.1. Frameshift.
AK312030 mRNA. Translation: BAG34967.1.
CH471060 Genomic DNA. Translation: EAW91981.1.
BC012367 mRNA. Translation: AAH12367.1.
CCDSiCCDS75780.1.
RefSeqiNP_443118.1. NM_052886.2.
UniGeneiHs.201083.

3D structure databases

ProteinModelPortaliQ969L2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125321. 17 interactions.
IntActiQ969L2. 14 interactions.

PTM databases

PhosphoSiteiQ969L2.

Polymorphism and mutation databases

BioMutaiMAL2.
DMDMi21263778.

Proteomic databases

EPDiQ969L2.
MaxQBiQ969L2.
PeptideAtlasiQ969L2.
PRIDEiQ969L2.

Protocols and materials databases

DNASUi114569.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000614891; ENSP00000479708; ENSG00000147676.
GeneIDi114569.
KEGGihsa:114569.
UCSCiuc033bxh.1. human.

Organism-specific databases

CTDi114569.
GeneCardsiMAL2.
HGNCiHGNC:13634. MAL2.
HPAiHPA043831.
MIMi609684. gene.
neXtProtiNX_Q969L2.
PharmGKBiPA30566.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00730000110762.
HOVERGENiHBG000925.
InParanoidiQ969L2.
OMAiTQINANW.
OrthoDBiEOG091G0OS1.
PhylomeDBiQ969L2.

Miscellaneous databases

ChiTaRSiMAL2. human.
GeneWikiiMAL2_(gene).
GenomeRNAii114569.
PROiQ969L2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147676.
CleanExiHS_MAL2.
ExpressionAtlasiQ969L2. baseline and differential.
GenevisibleiQ969L2. HS.

Family and domain databases

InterProiIPR013295. MAL.
IPR033240. MAL2.
IPR008253. Marvel.
[Graphical view]
PANTHERiPTHR22776:SF42. PTHR22776:SF42. 1 hit.
PfamiPF01284. MARVEL. 1 hit.
[Graphical view]
PRINTSiPR01884. MALPROTEIN.
PROSITEiPS51225. MARVEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMAL2_HUMAN
AccessioniPrimary (citable) accession number: Q969L2
Secondary accession number(s): B2R520, Q6ZMD9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: December 1, 2001
Last modified: September 7, 2016
This is version 114 of the entry and version 1 of the sequence. [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 8
    Human chromosome 8: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.