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LRMDA leucine rich melanocyte differentiation associated [ Homo sapiens (human) ]

Gene ID: 83938, updated on 25-Aug-2020

Summary

Official Symbol
LRMDAprovided by HGNC
Official Full Name
leucine rich melanocyte differentiation associatedprovided by HGNC
Primary source
HGNC:HGNC:23405
See related
Ensembl:ENSG00000148655 MIM:614537
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
CDA017; C10orf11
Summary
This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Expression
Ubiquitous expression in adrenal (RPKM 1.6), spleen (RPKM 0.7) and 24 other tissues See more
Orthologs

Genomic context

See LRMDA in Genome Data Viewer
Location:
10q22.2-q22.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (75431624..76560168)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (77191217..78317133)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929234 Neighboring gene uncharacterized LOC107984293 Neighboring gene microRNA 606 Neighboring gene uncharacterized LOC105378367 Neighboring gene VISTA enhancer hs320 Neighboring gene VISTA enhancer hs1679 Neighboring gene uncharacterized LOC112268057 Neighboring gene RNA, 7SL, cytoplasmic 518, pseudogene Neighboring gene RNA, U6 small nuclear 673, pseudogene Neighboring gene VISTA enhancer hs1683 Neighboring gene VISTA enhancer hs1434 Neighboring gene VISTA enhancer hs748 Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 8

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
A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese.
GeneReviews: Not available
Albinism, oculocutaneous, type VII
MedGen: C3808786 OMIM: 615179 GeneReviews: Not available
Compare labs
Genetic variants associated with disordered eating.
GeneReviews: Not available
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
GeneReviews: Not available
Genome-wide association study of lung function phenotypes in a founder population.
GeneReviews: Not available
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
GeneReviews: Not available
Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
melanocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
leucine-rich melanocyte differentiation-associated protein
Names
leucine-rich repeat-containing protein C10orf11

NCBI Reference Sequences (RefSeq)

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_042180.1 RefSeqGene

    Range
    5001..1130730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001305581.2NP_001292510.1  leucine-rich melanocyte differentiation-associated protein isoform 1

    See identical proteins and their annotated locations for NP_001292510.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC010997, AC012047, AC024603, BM720401, BX105111, CR933639, HY006640
    Consensus CDS
    CCDS76319.1
    UniProtKB/TrEMBL
    A0A087WWI0
    Related
    ENSP00000480240.1, ENST00000611255.5
    Conserved Domains (4) summary
    cd00116
    Location:27113
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:3454
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:5493
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:53112
    LRR_8; Leucine rich repeat
  2. NM_032024.5NP_114413.1  leucine-rich melanocyte differentiation-associated protein isoform 2

    See identical proteins and their annotated locations for NP_114413.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC024603, AF267860, CR933639
    Consensus CDS
    CCDS7351.1
    UniProtKB/Swiss-Prot
    Q9H2I8
    Related
    ENSP00000361577.1, ENST00000372499.5
    Conserved Domains (4) summary
    sd00031
    Location:326
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:2665
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:2584
    LRR_8; Leucine rich repeat
    cl13995
    Location:793
    MPP_superfamily; metallophosphatase superfamily, metallophosphatase domain

RNA

  1. NR_131178.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC012047, AC024603, AL136451, CR933639

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    75431624..76560168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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