Seroatlas · Human Serome Atlas

MLPH

Melanophilin

Also known as: exophilin-3, l(1)-3Rk, l1Rk3, ln, MELPH_HUMAN, Slac-2a

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BV36
Gene
MLPH
Ensembl
ENSG00000115648
Chromosome
2
Canonical length
600 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

600 residues, UniProt reviewed canonical sequence.

>Q9BV36|MLPH
     1  MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
    61  ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
   121  YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
   181  PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK
   241  AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
   301  EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA VECLLTYLEN
   361  TVVPPLAKGL GAGVRTEADV EEEALRRKLE ELTSNVSDQE TSSEEEEAKD EKAEPNRDKS
   421  VGPLPQADPE VGTAAHQTNR QEKSPQDPGD PVQYNRTTDE ELSELEDRVA VTASEVQQAE
   481  SEVSDIESRI AALRAAGLTV KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA
   541  MAVPYLLRRK FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MLPH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.6
Highest tissue expression
133 nTPM

Expression across tissuesHPA

Tissue

  • prostate: 133 nTPM
  • salivary gland: 119 nTPM
  • stomach: 96 nTPM
  • heart muscle: 67 nTPM
  • lung: 59 nTPM
  • breast: 53 nTPM

Single-cell type

  • foveolar cells: 508 nCPM
  • alveolar cells type 2: 338 nCPM
  • prostatic glandular cells: 335 nCPM
  • goblet cells: 321 nCPM
  • lacrimal acinar cells: 267 nCPM
  • breast hormone-responsive cells: 241 nCPM

Immune cell

  • neutrophil: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • choroid plexus: 2.7 nTPM
  • medulla oblongata: 2.5 nTPM
  • hippocampal formation: 2.2 nTPM
  • midbrain: 2.1 nTPM
  • white matter: 2 nTPM
  • cerebral cortex: 1.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MLPH.

Disease | AllUniProt

Conditions MLPH is implicated in, by any mechanism.

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 290 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.9
gnomAD pLI
0
gnomAD missense Z
-0.12
DepMap mean gene effect
0.13
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MLPH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MLPH as an antibody target. Whether an autoantibody or antibody against MLPH could matter depends on whether native MLPH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MLPH is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MLPH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MLPH. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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