UniProtKB - Q99622 (C10_HUMAN)
Protein
Protein C10
Gene
C12orf57
Organism
Homo sapiens (Human)
Status
Functioni
In brain, may be required for corpus callosum development.1 Publication
GO - Biological processi
- camera-type eye morphogenesis Source: UniProtKB
- cognition Source: UniProtKB
- corpus callosum morphogenesis Source: UniProtKB
- post-embryonic development Source: UniProtKB
- psychomotor behavior Source: UniProtKB
- regulation of skeletal muscle contraction Source: UniProtKB
- third ventricle development Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q99622 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein C10 |
Gene namesi | Name:C12orf57 Synonyms:C10 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29521, C12orf57 |
MIMi | 615140, gene |
neXtProti | NX_Q99622 |
VEuPathDBi | HostDB:ENSG00000111678.10 |
Subcellular locationi
Other locations
- Cytoplasm 1 Publication
Nucleus
- nuclear speck Source: HPA
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Temtamy syndrome (TEMTYS)3 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069774 | 51 | L → Q in TEMTYS. 1 PublicationCorresponds to variant dbSNP:rs587776955EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 113246 |
MalaCardsi | C12orf57 |
MIMi | 218340, phenotype |
OpenTargetsi | ENSG00000111678 |
Orphaneti | 1777, Temtamy syndrome |
PharmGKBi | PA143485386 |
Miscellaneous databases
Pharosi | Q99622, Tbio |
Genetic variation databases
BioMutai | C12orf57 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000065034 | 2 – 126 | Protein C10Add BLAST | 125 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q99622 |
jPOSTi | Q99622 |
MassIVEi | Q99622 |
MaxQBi | Q99622 |
PaxDbi | Q99622 |
PeptideAtlasi | Q99622 |
PRIDEi | Q99622 |
ProteomicsDBi | 78363 |
TopDownProteomicsi | Q99622 |
PTM databases
iPTMneti | Q99622 |
PhosphoSitePlusi | Q99622 |
Expressioni
Tissue specificityi
Ubiquitously expressed, with higher expression in lung and fetal brain.1 Publication
Gene expression databases
Bgeei | ENSG00000111678, Expressed in prostate gland and 120 other tissues |
ExpressionAtlasi | Q99622, baseline and differential |
Genevisiblei | Q99622, HS |
Organism-specific databases
HPAi | ENSG00000111678, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 125237, 20 interactors |
IntActi | Q99622, 7 interactors |
STRINGi | 9606.ENSP00000229281 |
Miscellaneous databases
RNActi | Q99622, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the UPF0456 family.Curated
Phylogenomic databases
eggNOGi | ENOG502S2W0, Eukaryota |
GeneTreei | ENSGT00390000005242 |
HOGENOMi | CLU_144250_1_0_1 |
InParanoidi | Q99622 |
OMAi | KMMQFVF |
OrthoDBi | 1599659at2759 |
PhylomeDBi | Q99622 |
TreeFami | TF323852 |
Family and domain databases
InterProi | View protein in InterPro IPR026317, P_C10 |
PANTHERi | PTHR13463, PTHR13463, 1 hit |
Pfami | View protein in Pfam PF14974, P_C10, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q99622-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketU3KQ07 | U3KQ07_HUMAN | Protein C10 | C12orf57 | 103 | Annotation score: | ||
F5GXW5 | F5GXW5_HUMAN | Protein C10 | C12orf57 | 97 | Annotation score: | ||
U3KQ85 | U3KQ85_HUMAN | Protein C10 | C12orf57 | 91 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069774 | 51 | L → Q in TEMTYS. 1 PublicationCorresponds to variant dbSNP:rs587776955EnsemblClinVar. | 1 |
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 |
CCDSi | CCDS8571.1 |
RefSeqi | NP_001288763.1, NM_001301834.1 NP_612434.1, NM_138425.3 |
Genome annotation databases
Ensembli | ENST00000229281; ENSP00000229281; ENSG00000111678 ENST00000545581; ENSP00000440602; ENSG00000111678 |
GeneIDi | 113246 |
KEGGi | hsa:113246 |
UCSCi | uc001qrz.4, human |
Similar proteinsi
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 |
CCDSi | CCDS8571.1 |
RefSeqi | NP_001288763.1, NM_001301834.1 NP_612434.1, NM_138425.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 125237, 20 interactors |
IntActi | Q99622, 7 interactors |
STRINGi | 9606.ENSP00000229281 |
PTM databases
iPTMneti | Q99622 |
PhosphoSitePlusi | Q99622 |
Genetic variation databases
BioMutai | C12orf57 |
Proteomic databases
EPDi | Q99622 |
jPOSTi | Q99622 |
MassIVEi | Q99622 |
MaxQBi | Q99622 |
PaxDbi | Q99622 |
PeptideAtlasi | Q99622 |
PRIDEi | Q99622 |
ProteomicsDBi | 78363 |
TopDownProteomicsi | Q99622 |
Protocols and materials databases
Antibodypediai | 22799, 45 antibodies |
DNASUi | 113246 |
Genome annotation databases
Ensembli | ENST00000229281; ENSP00000229281; ENSG00000111678 ENST00000545581; ENSP00000440602; ENSG00000111678 |
GeneIDi | 113246 |
KEGGi | hsa:113246 |
UCSCi | uc001qrz.4, human |
Organism-specific databases
CTDi | 113246 |
DisGeNETi | 113246 |
GeneCardsi | C12orf57 |
HGNCi | HGNC:29521, C12orf57 |
HPAi | ENSG00000111678, Low tissue specificity |
MalaCardsi | C12orf57 |
MIMi | 218340, phenotype 615140, gene |
neXtProti | NX_Q99622 |
OpenTargetsi | ENSG00000111678 |
Orphaneti | 1777, Temtamy syndrome |
PharmGKBi | PA143485386 |
VEuPathDBi | HostDB:ENSG00000111678.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S2W0, Eukaryota |
GeneTreei | ENSGT00390000005242 |
HOGENOMi | CLU_144250_1_0_1 |
InParanoidi | Q99622 |
OMAi | KMMQFVF |
OrthoDBi | 1599659at2759 |
PhylomeDBi | Q99622 |
TreeFami | TF323852 |
Enzyme and pathway databases
PathwayCommonsi | Q99622 |
Miscellaneous databases
BioGRID-ORCSi | 113246, 7 hits in 862 CRISPR screens |
ChiTaRSi | C12orf57, human |
GenomeRNAii | 113246 |
Pharosi | Q99622, Tbio |
PROi | PR:Q99622 |
RNActi | Q99622, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000111678, Expressed in prostate gland and 120 other tissues |
ExpressionAtlasi | Q99622, baseline and differential |
Genevisiblei | Q99622, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026317, P_C10 |
PANTHERi | PTHR13463, PTHR13463, 1 hit |
Pfami | View protein in Pfam PF14974, P_C10, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | C10_HUMAN | |
Accessioni | Q99622Primary (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: | February 10, 2021 | |
This is version 136 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Uncharacterized protein families (UPF)
List of uncharacterized protein family (UPF) entries