Format

Send to:

Choose Destination

MLPH melanophilin [ Homo sapiens (human) ]

Gene ID: 79083, updated on 11-Jun-2021

Summary

Official Symbol
MLPHprovided by HGNC
Official Full Name
melanophilinprovided by HGNC
Primary source
HGNC:HGNC:29643
See related
Ensembl:ENSG00000115648 MIM:606526
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
SLAC2-A
Summary
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]
Expression
Biased expression in stomach (RPKM 28.6), prostate (RPKM 26.5) and 12 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MLPH in Genome Data Viewer
Location:
2q37.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (237486410..237555322)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (238395053..238463965)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1951 Neighboring gene collagen type VI alpha 3 chain Neighboring gene uncharacterized LOC105373957 Neighboring gene microRNA 6811 Neighboring gene MT-ND5 pseudogene 46 Neighboring gene MT-ND4 pseudogene 40 Neighboring gene RNA, U6 small nuclear 1140, pseudogene Neighboring gene prolactin releasing hormone

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies new prostate cancer susceptibility loci.
GeneReviews: Not available
Griscelli syndrome type 3
MedGen: C1836573 OMIM: 609227 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2771, MGC59733

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables myosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables myosin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in melanosome transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
melanophilin
Names
exophilin-3
slp homolog lacking C2 domains a
synaptotagmin-like protein 2a

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_007286.1 RefSeqGene

    Range
    4124..73032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_83

mRNA and Protein(s)

  1. NM_001042467.3NP_001035932.1  melanophilin isoform 2

    See identical proteins and their annotated locations for NP_001035932.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC104667, BC014948, BC051269, BM992819, DC300186
    Consensus CDS
    CCDS42836.1
    UniProtKB/Swiss-Prot
    Q9BV36
    UniProtKB/TrEMBL
    A0A024R4D3
    Related
    ENSP00000341845.4, ENST00000338530.8
    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:429484
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  2. NM_001281473.2NP_001268402.1  melanophilin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC104667, AC112721, AK225381, BC014948, BM992819, DC300186
    Consensus CDS
    CCDS63173.1
    UniProtKB/Swiss-Prot
    Q9BV36
    Related
    ENSP00000386780.1, ENST00000409373.5
    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:359392
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  3. NM_001281474.2NP_001268403.1  melanophilin isoform 4

    See identical proteins and their annotated locations for NP_001268403.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC104667, AC112721, AK094168, BC014948, BM992819
    Consensus CDS
    CCDS63172.1
    UniProtKB/Swiss-Prot
    Q9BV36
    Related
    ENSP00000386338.1, ENST00000410032.5
    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:314369
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  4. NM_024101.7NP_077006.1  melanophilin isoform 1

    See identical proteins and their annotated locations for NP_077006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC104667, BC001653, BC014948, BM992819, DC300186
    Consensus CDS
    CCDS2518.1
    UniProtKB/Swiss-Prot
    Q9BV36
    UniProtKB/TrEMBL
    A0A024R492
    Related
    ENSP00000264605.3, ENST00000264605.8
    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:457512
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

RNA

  1. NR_104019.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC104667, AK296745, BC014948, BM992819

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    237486410..237555322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004893.1XP_016860382.1  melanophilin isoform X1

    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:457512
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  2. XM_006712739.1XP_006712802.1  melanophilin isoform X3

    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:427460
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  3. XM_006712737.1XP_006712800.1  melanophilin isoform X2

    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:417472
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  4. XM_006712740.1XP_006712803.1  melanophilin isoform X4

    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:389444
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  5. XM_017004894.2XP_016860383.1  melanophilin isoform X5

    Related
    ENST00000468178.5
  6. XM_011511812.1XP_011510114.1  melanophilin isoform X6

    Conserved Domains (1) summary
    pfam04698
    Location:312367
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
Support Center