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Protein

Protein C10

Gene

C12orf57

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

In brain, may be required for corpus callusum development.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Protein C10
Gene namesi
Name:C12orf57
Synonyms:C10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:29521. C12orf57.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Temtamy syndrome (TEMTYS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic variability observed.
Disease descriptionA mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus.
See also OMIM:218340
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511L → Q in TEMTYS. 1 Publication
VAR_069774

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MalaCardsiC12orf57.
MIMi218340. phenotype.
Orphaneti1777. Temtamy syndrome.
PharmGKBiPA143485386.

Polymorphism and mutation databases

BioMutaiC12orf57.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 126125Protein C10PRO_0000065034Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ99622.
MaxQBiQ99622.
PaxDbiQ99622.
PRIDEiQ99622.
TopDownProteomicsiQ99622.

PTM databases

iPTMnetiQ99622.
PhosphoSiteiQ99622.

Expressioni

Tissue specificityi

Ubiquitously expressed, with higher expression in lung and fetal brain.1 Publication

Gene expression databases

BgeeiQ99622.
CleanExiHS_C12orf57.
ExpressionAtlasiQ99622. baseline and differential.
GenevisibleiQ99622. HS.

Organism-specific databases

HPAiHPA059163.

Interactioni

Protein-protein interaction databases

BioGridi125237. 11 interactions.
IntActiQ99622. 1 interaction.
STRINGi9606.ENSP00000229281.

Structurei

3D structure databases

ProteinModelPortaliQ99622.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UPF0456 family.Curated

Phylogenomic databases

eggNOGiENOG410IWDX. Eukaryota.
ENOG4111SII. LUCA.
GeneTreeiENSGT00390000005242.
HOGENOMiHOG000007736.
HOVERGENiHBG003152.
InParanoidiQ99622.
OMAiESACNDM.
PhylomeDBiQ99622.
TreeFamiTF323852.

Family and domain databases

InterProiIPR026317. P_C10.
[Graphical view]
PANTHERiPTHR13463. PTHR13463. 1 hit.
PfamiPF14974. DUF4511. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q99622-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASASTQPAA LSAEQAKVVL AEVIQAFSAP ENAVRMDEAR DNACNDMGKM
60 70 80 90 100
LQFVLPVATQ IQQEVIKAYG FSCDGEGVLK FARLVKSYEA QDPEIASLSG
110 120
KLKALFLPPM TLPPHGPAAG GSVAAS
Length:126
Mass (Da):13,178
Last modified:May 1, 1997 - v1
Checksum:i111588346C63FC17
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511L → Q in TEMTYS. 1 Publication
VAR_069774

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U47924 Genomic DNA. Translation: AAB51329.1.
AK311912 mRNA. Translation: BAG34853.1.
CH471116 Genomic DNA. Translation: EAW88705.1.
BC009925 mRNA. Translation: AAH09925.1.
CCDSiCCDS8571.1.
RefSeqiNP_001288763.1. NM_001301834.1.
NP_612434.1. NM_138425.3.
UniGeneiHs.405913.

Genome annotation databases

EnsembliENST00000229281; ENSP00000229281; ENSG00000111678.
ENST00000545581; ENSP00000440602; ENSG00000111678.
GeneIDi113246.
KEGGihsa:113246.
UCSCiuc001qrz.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U47924 Genomic DNA. Translation: AAB51329.1.
AK311912 mRNA. Translation: BAG34853.1.
CH471116 Genomic DNA. Translation: EAW88705.1.
BC009925 mRNA. Translation: AAH09925.1.
CCDSiCCDS8571.1.
RefSeqiNP_001288763.1. NM_001301834.1.
NP_612434.1. NM_138425.3.
UniGeneiHs.405913.

3D structure databases

ProteinModelPortaliQ99622.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125237. 11 interactions.
IntActiQ99622. 1 interaction.
STRINGi9606.ENSP00000229281.

PTM databases

iPTMnetiQ99622.
PhosphoSiteiQ99622.

Polymorphism and mutation databases

BioMutaiC12orf57.

Proteomic databases

EPDiQ99622.
MaxQBiQ99622.
PaxDbiQ99622.
PRIDEiQ99622.
TopDownProteomicsiQ99622.

Protocols and materials databases

DNASUi113246.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000229281; ENSP00000229281; ENSG00000111678.
ENST00000545581; ENSP00000440602; ENSG00000111678.
GeneIDi113246.
KEGGihsa:113246.
UCSCiuc001qrz.4. human.

Organism-specific databases

CTDi113246.
GeneCardsiC12orf57.
HGNCiHGNC:29521. C12orf57.
HPAiHPA059163.
MalaCardsiC12orf57.
MIMi218340. phenotype.
615140. gene.
neXtProtiNX_Q99622.
Orphaneti1777. Temtamy syndrome.
PharmGKBiPA143485386.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWDX. Eukaryota.
ENOG4111SII. LUCA.
GeneTreeiENSGT00390000005242.
HOGENOMiHOG000007736.
HOVERGENiHBG003152.
InParanoidiQ99622.
OMAiESACNDM.
PhylomeDBiQ99622.
TreeFamiTF323852.

Miscellaneous databases

GenomeRNAii113246.
NextBioi78804.
PROiQ99622.
SOURCEiSearch...

Gene expression databases

BgeeiQ99622.
CleanExiHS_C12orf57.
ExpressionAtlasiQ99622. baseline and differential.
GenevisibleiQ99622. HS.

Family and domain databases

InterProiIPR026317. P_C10.
[Graphical view]
PANTHERiPTHR13463. PTHR13463. 1 hit.
PfamiPF14974. DUF4511. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination."
    Ansari-Lari M.A., Shen Y., Muzny D.M., Lee W., Gibbs R.A.
    Genome Res. 7:268-280(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Thymus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: INVOLVEMENT IN TEMTYS, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  9. Cited for: INVOLVEMENT IN TEMTYS.
  10. "Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia."
    Zahrani F., Aldahmesh M.A., Alshammari M.J., Al-Hazzaa S.A., Alkuraya F.S.
    Am. J. Hum. Genet. 92:387-391(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TEMTYS GLN-51.

Entry informationi

Entry nameiC10_HUMAN
AccessioniPrimary (citable) accession number: Q99622
Secondary accession number(s): B2R4Q6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1997
Last modified: March 16, 2016
This is version 107 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 12
    Human chromosome 12: 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
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.