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Q9H2I8 (CJ011_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Leucine-rich repeat-containing protein C10orf11
Gene names
Name:C10orf11
ORF Names:CDA017
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length198 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for melanocyte differentiation. Ref.5

Tissue specificity

In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells. Ref.5

Involvement in disease

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. Ref.5

Sequence similarities

Contains 4 LRR (leucine-rich) repeats.

Contains 1 LRRCT domain.

Ontologies

Keywords
   Biological processDifferentiation
   Coding sequence diversityPolymorphism
   DiseaseAlbinism
   DomainLeucine-rich repeat
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmelanocyte differentiation

Inferred from mutant phenotype Ref.5. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 198198Leucine-rich repeat-containing protein C10orf11
PRO_0000089781

Regions

Repeat2 – 2221LRR 1
Repeat26 – 4722LRR 2
Repeat48 – 6922LRR 3
Repeat75 – 9521LRR 4
Domain96 – 13439LRRCT

Natural variations

Natural variant1531S → F.
Corresponds to variant rs35349706 [ dbSNP | Ensembl ].
VAR_033686

Sequences

Sequence LengthMass (Da)Tools
Q9H2I8 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 46C5A791B179AEDF

FASTA19822,568
        10         20         30         40         50         60 
MEKYLSLSGN HSSNKRSLEG LSAFRSLEEL ILDNNQLGDD LVLPGLPRLH TLTLNKNRIT 

        70         80         90        100        110        120 
DLENLLDHLA EVTPALEYLS LLGNVACPNE LVSLEKDEED YKRYRCFVLY KLPNLKFLDA 

       130        140        150        160        170        180 
QKVTRQEREE ALVRGVFMKV VKPKASSEDV ASSPERHYTP LPSASRELTS HQGVLGKCRY 

       190 
VYYGKNSEGN RFIRDDQL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF267860 mRNA. Translation: AAG44729.1.
AL731568 expand/collapse EMBL AC list , AC012047, AC013286, AC024603 Genomic DNA. Translation: CAH73047.1.
CH471083 Genomic DNA. Translation: EAW54585.1.
RefSeqNP_114413.1. NM_032024.3.
UniGeneHs.118161.
Hs.690504.

3D structure databases

ProteinModelPortalQ9H2I8.
SMRQ9H2I8. Positions 3-131.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000361577.

PTM databases

PhosphoSiteQ9H2I8.

Polymorphism databases

DMDM46576650.

Proteomic databases

PaxDbQ9H2I8.
PRIDEQ9H2I8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372499; ENSP00000361577; ENSG00000148655.
GeneID83938.
KEGGhsa:83938.
UCSCuc001jxi.3. human.

Organism-specific databases

CTD83938.
GeneCardsGC10P077360.
H-InvDBHIX0020866.
HGNCHGNC:23405. C10orf11.
HPAHPA047446.
HPA050419.
MIM614537. gene.
615179. phenotype.
neXtProtNX_Q9H2I8.
Orphanet352745. Oculocutaneous albinism type 7.
PharmGKBPA134899373.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG121670.
HOGENOMHOG000293232.
HOVERGENHBG050965.
PhylomeDBQ9H2I8.
TreeFamTF328882.

Gene expression databases

ArrayExpressQ9H2I8.
BgeeQ9H2I8.
CleanExHS_C10orf11.
GenevestigatorQ9H2I8.

Family and domain databases

InterProIPR001611. Leu-rich_rpt.
[Graphical view]
PROSITEPS51450. LRR. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSC10orf11. human.
GenomeRNAi83938.
NextBio73065.
SOURCESearch...

Entry information

Entry nameCJ011_HUMAN
AccessionPrimary (citable) accession number: Q9H2I8
Secondary accession number(s): B1AVW6
Entry history
Integrated into UniProtKB/Swiss-Prot: April 26, 2004
Last sequence update: March 1, 2001
Last modified: March 19, 2014
This is version 81 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM