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C10orf11 chromosome 10 open reading frame 11 [ Homo sapiens (human) ]

Gene ID: 83938, updated on 26-May-2016
Official Symbol
C10orf11provided by HGNC
Official Full Name
chromosome 10 open reading frame 11provided by HGNC
Primary source
HGNC:HGNC:23405
See related
Ensembl:ENSG00000148655 HPRD:12560; MIM:614537; Vega:OTTHUMG00000018532
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
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]
Orthologs
Location:
10q22.3
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (75431458..76557375)
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 zinc finger protein 503 Neighboring gene uncharacterized LOC101929234 Neighboring gene ZNF503 antisense RNA 2 Neighboring gene microRNA 606 Neighboring gene uncharacterized LOC105378367 Neighboring gene uncharacterized LOC105378364 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Oculocutaneous albinism type 7
MedGen: C3808786 OMIM: 615179 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese.
NHGRI GWA Catalog
Genetic variants associated with disordered eating.
NHGRI GWA Catalog
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
NHGRI GWA Catalog
Genome-wide association study of lung function phenotypes in a founder population.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.
NHGRI GWA Catalog

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Preferred Names
leucine-rich repeat-containing protein C10orf11

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_001305581.1NP_001292510.1  leucine-rich repeat-containing protein C10orf11 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)
    AC012047, AC024603, BM720401, BX105111, CR933639, HY006640
    Consensus CDS
    CCDS76319.1
    UniProtKB/TrEMBL
    A0A087WWI0
    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 ...
    pfam12799
    Location:5493
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:53112
    LRR_8; Leucine rich repeat
    sd00031
    Location:3454
    LRR_1; leucine-rich repeat [structural motif]
  2. NM_032024.4NP_114413.1  leucine-rich repeat-containing protein C10orf11 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, OTTHUMP00000019889, ENST00000372499, OTTHUMT00000048839
    Conserved Domains (4) summary
    pfam12799
    Location:2665
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:2584
    LRR_8; Leucine rich repeat
    sd00031
    Location:326
    LRR_1; leucine-rich repeat [structural motif]
    cl13995
    Location:793
    MPP_superfamily; metallophosphatase superfamily, metallophosphatase domain

RNA

  1. NR_131178.1 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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    75431458..76557375
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270212.2XP_005270269.1  

    Related
    ENSP00000480240, OTTHUMP00000275663, ENST00000611255, OTTHUMT00000476410
    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 ...
    pfam12799
    Location:5493
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:53112
    LRR_8; Leucine rich repeat
    sd00031
    Location:3454
    LRR_1; leucine-rich repeat [structural motif]
  2. XM_011540257.1XP_011538559.1  

    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 ...
    pfam12799
    Location:5493
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:53112
    LRR_8; Leucine rich repeat
    sd00031
    Location:3454
    LRR_1; leucine-rich repeat [structural motif]
  3. XM_011540256.1XP_011538558.1  

    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 ...
    pfam12799
    Location:5493
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:53112
    LRR_8; Leucine rich repeat
    sd00031
    Location:3454
    LRR_1; leucine-rich repeat [structural motif]
  4. XM_011540258.1XP_011538560.1  

    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 ...
    pfam12799
    Location:5493
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:53112
    LRR_8; Leucine rich repeat
    sd00031
    Location:3454
    LRR_1; leucine-rich repeat [structural motif]

RNA

  1. XR_945833.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    77824689..78599701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)