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Q9H2I8

- CJ011_HUMAN

UniProt

Q9H2I8 - CJ011_HUMAN

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Protein
Leucine-rich repeat-containing protein C10orf11
Gene
C10orf11, CDA017
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

Required for melanocyte differentiation.1 Publication

GO - Biological processi

  1. melanocyte differentiation Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Differentiation

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein C10orf11
Gene namesi
ORF Names:CDA017
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:23405. C10orf11.

Pathology & Biotechi

Involvement in diseasei

Albinism, oculocutaneous, 7 (OCA7) [MIM:615179]: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Albinism

Organism-specific databases

MIMi615179. phenotype.
Orphaneti352745. Oculocutaneous albinism type 7.
PharmGKBiPA134899373.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 198198Leucine-rich repeat-containing protein C10orf11
PRO_0000089781Add
BLAST

Proteomic databases

MaxQBiQ9H2I8.
PaxDbiQ9H2I8.
PRIDEiQ9H2I8.

PTM databases

PhosphoSiteiQ9H2I8.

Expressioni

Tissue specificityi

In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells.1 Publication

Gene expression databases

ArrayExpressiQ9H2I8.
BgeeiQ9H2I8.
CleanExiHS_C10orf11.
GenevestigatoriQ9H2I8.

Organism-specific databases

HPAiHPA047446.
HPA050419.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000361577.

Structurei

3D structure databases

ProteinModelPortaliQ9H2I8.
SMRiQ9H2I8. Positions 16-131.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati2 – 2221LRR 1
Add
BLAST
Repeati26 – 4722LRR 2
Add
BLAST
Repeati48 – 6922LRR 3
Add
BLAST
Repeati75 – 9521LRR 4
Add
BLAST
Domaini96 – 13439LRRCT
Add
BLAST

Sequence similaritiesi

Contains 1 LRRCT domain.

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiNOG121670.
HOGENOMiHOG000293232.
HOVERGENiHBG050965.
OMAiYIYYGKH.
PhylomeDBiQ9H2I8.
TreeFamiTF328882.

Family and domain databases

InterProiIPR001611. Leu-rich_rpt.
[Graphical view]
PROSITEiPS51450. LRR. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9H2I8-1 [UniParc]FASTAAdd to Basket

« Hide

MEKYLSLSGN HSSNKRSLEG LSAFRSLEEL ILDNNQLGDD LVLPGLPRLH    50
TLTLNKNRIT DLENLLDHLA EVTPALEYLS LLGNVACPNE LVSLEKDEED 100
YKRYRCFVLY KLPNLKFLDA QKVTRQEREE ALVRGVFMKV VKPKASSEDV 150
ASSPERHYTP LPSASRELTS HQGVLGKCRY VYYGKNSEGN RFIRDDQL 198
Length:198
Mass (Da):22,568
Last modified:March 1, 2001 - v1
Checksum:i46C5A791B179AEDF
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti153 – 1531S → F.
Corresponds to variant rs35349706 [ dbSNP | Ensembl ].
VAR_033686

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF267860 mRNA. Translation: AAG44729.1.
AL731568
, AC012047, AC013286, AC024603 Genomic DNA. Translation: CAH73047.1.
CH471083 Genomic DNA. Translation: EAW54585.1.
CCDSiCCDS7351.1.
RefSeqiNP_114413.1. NM_032024.3.
UniGeneiHs.118161.
Hs.690504.

Genome annotation databases

EnsembliENST00000372499; ENSP00000361577; ENSG00000148655.
GeneIDi83938.
KEGGihsa:83938.
UCSCiuc001jxi.3. human.

Polymorphism databases

DMDMi46576650.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF267860 mRNA. Translation: AAG44729.1 .
AL731568
, AC012047 , AC013286 , AC024603 Genomic DNA. Translation: CAH73047.1 .
CH471083 Genomic DNA. Translation: EAW54585.1 .
CCDSi CCDS7351.1.
RefSeqi NP_114413.1. NM_032024.3.
UniGenei Hs.118161.
Hs.690504.

3D structure databases

ProteinModelPortali Q9H2I8.
SMRi Q9H2I8. Positions 16-131.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000361577.

PTM databases

PhosphoSitei Q9H2I8.

Polymorphism databases

DMDMi 46576650.

Proteomic databases

MaxQBi Q9H2I8.
PaxDbi Q9H2I8.
PRIDEi Q9H2I8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372499 ; ENSP00000361577 ; ENSG00000148655 .
GeneIDi 83938.
KEGGi hsa:83938.
UCSCi uc001jxi.3. human.

Organism-specific databases

CTDi 83938.
GeneCardsi GC10P077360.
H-InvDB HIX0020866.
HGNCi HGNC:23405. C10orf11.
HPAi HPA047446.
HPA050419.
MIMi 614537. gene.
615179. phenotype.
neXtProti NX_Q9H2I8.
Orphaneti 352745. Oculocutaneous albinism type 7.
PharmGKBi PA134899373.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG121670.
HOGENOMi HOG000293232.
HOVERGENi HBG050965.
OMAi YIYYGKH.
PhylomeDBi Q9H2I8.
TreeFami TF328882.

Miscellaneous databases

ChiTaRSi C10orf11. human.
GenomeRNAii 83938.
NextBioi 73065.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H2I8.
Bgeei Q9H2I8.
CleanExi HS_C10orf11.
Genevestigatori Q9H2I8.

Family and domain databases

InterProi IPR001611. Leu-rich_rpt.
[Graphical view ]
PROSITEi PS51450. LRR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel gene expressed in human pheochromocytoma."
    Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pheochromocytoma.
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Platelet.
  5. "Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism."
    Groenskov K., Dooley C.M., Oestergaard E., Kelsh R.N., Hansen L., Levesque M.P., Vilhelmsen K., Moellgaard K., Stemple D.L., Rosenberg T.
    Am. J. Hum. Genet. 92:415-421(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN OCA7.

Entry informationi

Entry nameiCJ011_HUMAN
AccessioniPrimary (citable) accession number: Q9H2I8
Secondary accession number(s): B1AVW6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2004
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 84 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 10
    Human chromosome 10: 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

External Data

Dasty 3

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