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Entry version 142 (11 Dec 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Coiled-coil and C2 domain-containing protein 1A

Gene

CC2D1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Coiled-coil and C2 domain-containing protein 1A
Alternative name(s):
Akt kinase-interacting protein 1
Five prime repressor element under dual repression-binding protein 1
Short name:
FRE under dual repression-binding protein 1
Short name:
Freud-1
Putative NF-kappa-B-activating protein 023N
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CC2D1A
Synonyms:AKI1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000132024.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30237 CC2D1A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610055 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6P1N0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal recessive 3 (MRT3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Related information in OMIM

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
54862

MalaCards human disease database

More...
MalaCardsi
CC2D1A
MIMi608443 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000132024

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
88616 Autosomal recessive non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672197

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6P1N0 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CC2D1A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74737148

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002396091 – 951Coiled-coil and C2 domain-containing protein 1AAdd BLAST951

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei92PhosphothreonineBy similarity1
Modified residuei204PhosphothreonineCombined sources1
Modified residuei206PhosphothreonineCombined sources1
Modified residuei208Phosphoserine; by CDK1Combined sources1 Publication1
Modified residuei253PhosphoserineCombined sources1
Modified residuei324PhosphoserineCombined sources1
Modified residuei455PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q6P1N0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6P1N0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6P1N0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6P1N0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6P1N0

PeptideAtlas

More...
PeptideAtlasi
Q6P1N0

PRoteomics IDEntifications database

More...
PRIDEi
Q6P1N0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
66855 [Q6P1N0-1]
66856 [Q6P1N0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6P1N0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6P1N0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000132024 Expressed in 225 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6P1N0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6P1N0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB015220
HPA005436

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q9H4443EBI-7112364,EBI-749627

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120212, 42 interactors

Protein interaction database and analysis system

More...
IntActi
Q6P1N0, 36 interactors

Molecular INTeraction database

More...
MINTi
Q6P1N0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000313601

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6P1N0 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6P1N0

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini642 – 755C2Add BLAST114

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili346 – 392Sequence analysisAdd BLAST47
Coiled coili484 – 517Sequence analysisAdd BLAST34

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi192 – 345Pro-richAdd BLAST154

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C2 domain is required for the repression.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CC2D1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3837 Eukaryota
ENOG410XPM7 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000009595

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000285993

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6P1N0

KEGG Orthology (KO)

More...
KOi
K18260

Identification of Orthologs from Complete Genome Data

More...
OMAi
KCDIHDT

Database of Orthologous Groups

More...
OrthoDBi
959801at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6P1N0

TreeFam database of animal gene trees

More...
TreeFami
TF314229

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08690 C2_Freud-1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.150, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037772 C2_Freud
IPR039725 CC2D1A/B
IPR006608 DM14

The PANTHER Classification System

More...
PANTHERi
PTHR13076 PTHR13076, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00168 C2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239 C2, 1 hit
SM00685 DM14, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6P1N0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MHKRKGPPGP PGRGAAAARQ LGLLVDLSPD GLMIPEDGAN DEELEAEFLA
60 70 80 90 100
LVGGQPPALE KLKGKGPLPM EAIEKMASLC MRDPDEDEEE GTDEDDLEAD
110 120 130 140 150
DDLLAELNEV LGEEQKASET PPPVAQPKPE APHPGLETTL QERLALYQTA
160 170 180 190 200
IESARQAGDS AKMRRYDRGL KTLENLLASI RKGNAIDEAD IPPPVAIGKG
210 220 230 240 250
PASTPTYSPA PTQPAPRIAS APEPRVTLEG PSATAPASSP GLAKPQMPPG
260 270 280 290 300
PCSPGPLAQL QSRQRDYKLA ALHAKQQGDT TAAARHFRVA KSFDAVLEAL
310 320 330 340 350
SRGEPVDLSC LPPPPDQLPP DPPSPPSQPP TPATAPSTTE VPPPPRTLLE
360 370 380 390 400
ALEQRMERYQ VAAAQAKSKG DQRKARMHER IVKQYQDAIR AHKAGRAVDV
410 420 430 440 450
AELPVPPGFP PIQGLEATKP TQQSLVGVLE TAMKLANQDE GPEDEEDEVP
460 470 480 490 500
KKQNSPVAPT AQPKAPPSRT PQSGSAPTAK APPKATSTRA QQQLAFLEGR
510 520 530 540 550
KKQLLQAALR AKQKNDVEGA KMHLRQAKGL EPMLEASRNG LPVDITKVPP
560 570 580 590 600
APVNKDDFAL VQRPGPGLSQ EAARRYGELT KLIRQQHEMC LNHSNQFTQL
610 620 630 640 650
GNITETTKFE KLAEDCKRSM DILKQAFVRG LPTPTARFEQ RTFSVIKIFP
660 670 680 690 700
DLSSNDMLLF IVKGINLPTP PGLSPGDLDV FVRFDFPYPN VEEAQKDKTS
710 720 730 740 750
VIKNTDSPEF KEQFKLCINR SHRGFRRAIQ TKGIKFEVVH KGGLFKTDRV
760 770 780 790 800
LGTAQLKLDA LEIACEVREI LEVLDGRRPT GGRLEVMVRI REPLTAQQLE
810 820 830 840 850
TTTERWLVID PVPAAVPTQV AGPKGKAPPV PAPARESGNR SARPLHSLSV
860 870 880 890 900
LAFDQERLER KILALRQARR PVPPEVAQQY QDIMQRSQWQ RAQLEQGGVG
910 920 930 940 950
IRREYAAQLE RQLQFYTEAA RRLGNDGSRD AAKEALYRRN LVESELQRLR

R
Length:951
Mass (Da):104,062
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i04D80124FC47729A
GO
Isoform 2 (identifier: Q6P1N0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-819: Missing.

Show »
Length:950
Mass (Da):103,934
Checksum:i4A6B9FF39DECF316
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EMP1K7EMP1_HUMAN
Coiled-coil and C2 domain-containin...
CC2D1A
405Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EJY5K7EJY5_HUMAN
Coiled-coil and C2 domain-containin...
CC2D1A
378Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91029 differs from that shown. Aberrant splicing.Curated
The sequence BAB15464 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti646I → V in AAN04488 (Ref. 1) Curated1
Sequence conflicti824K → E in BAC77355 (PubMed:12761501).Curated1
Sequence conflicti837S → P in BAC77355 (PubMed:12761501).Curated1
Sequence conflicti906A → T in BAC77355 (PubMed:12761501).Curated1
Sequence conflicti943E → G in BAC77355 (PubMed:12761501).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026670339T → P. Corresponds to variant dbSNP:rs11883041EnsemblClinVar.1
Natural variantiVAR_026671635T → S. Corresponds to variant dbSNP:rs2290663Ensembl.1
Natural variantiVAR_026672801T → M. Corresponds to variant dbSNP:rs2305777EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_019242819Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF536205 mRNA Translation: AAN04488.1
AB097002 mRNA Translation: BAC77355.1
AK000248 mRNA Translation: BAA91029.1 Sequence problems.
AK026371 mRNA Translation: BAB15464.1 Different initiation.
BC048345 mRNA Translation: AAH48345.1
BC064981 mRNA Translation: AAH64981.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42512.1 [Q6P1N0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_060191.3, NM_017721.4 [Q6P1N0-1]
XP_005260030.1, XM_005259973.2 [Q6P1N0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000318003; ENSP00000313601; ENSG00000132024 [Q6P1N0-1]
ENST00000589606; ENSP00000467526; ENSG00000132024 [Q6P1N0-2]
ENST00000672017; ENSP00000500461; ENSG00000288293 [Q6P1N0-1]
ENST00000672339; ENSP00000500343; ENSG00000288293 [Q6P1N0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54862

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54862

UCSC genome browser

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UCSCi
uc002mxo.3 human [Q6P1N0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF536205 mRNA Translation: AAN04488.1
AB097002 mRNA Translation: BAC77355.1
AK000248 mRNA Translation: BAA91029.1 Sequence problems.
AK026371 mRNA Translation: BAB15464.1 Different initiation.
BC048345 mRNA Translation: AAH48345.1
BC064981 mRNA Translation: AAH64981.1
CCDSiCCDS42512.1 [Q6P1N0-1]
RefSeqiNP_060191.3, NM_017721.4 [Q6P1N0-1]
XP_005260030.1, XM_005259973.2 [Q6P1N0-2]

3D structure databases

SMRiQ6P1N0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120212, 42 interactors
IntActiQ6P1N0, 36 interactors
MINTiQ6P1N0
STRINGi9606.ENSP00000313601

PTM databases

iPTMnetiQ6P1N0
PhosphoSitePlusiQ6P1N0

Polymorphism and mutation databases

BioMutaiCC2D1A
DMDMi74737148

Proteomic databases

EPDiQ6P1N0
jPOSTiQ6P1N0
MassIVEiQ6P1N0
MaxQBiQ6P1N0
PaxDbiQ6P1N0
PeptideAtlasiQ6P1N0
PRIDEiQ6P1N0
ProteomicsDBi66855 [Q6P1N0-1]
66856 [Q6P1N0-2]

Genome annotation databases

EnsembliENST00000318003; ENSP00000313601; ENSG00000132024 [Q6P1N0-1]
ENST00000589606; ENSP00000467526; ENSG00000132024 [Q6P1N0-2]
ENST00000672017; ENSP00000500461; ENSG00000288293 [Q6P1N0-1]
ENST00000672339; ENSP00000500343; ENSG00000288293 [Q6P1N0-2]
GeneIDi54862
KEGGihsa:54862
UCSCiuc002mxo.3 human [Q6P1N0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54862
DisGeNETi54862
EuPathDBiHostDB:ENSG00000132024.17

GeneCards: human genes, protein and diseases

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GeneCardsi
CC2D1A
HGNCiHGNC:30237 CC2D1A
HPAiCAB015220
HPA005436
MalaCardsiCC2D1A
MIMi608443 phenotype
610055 gene
neXtProtiNX_Q6P1N0
OpenTargetsiENSG00000132024
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA142672197

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3837 Eukaryota
ENOG410XPM7 LUCA
GeneTreeiENSGT00390000009595
HOGENOMiHOG000285993
InParanoidiQ6P1N0
KOiK18260
OMAiKCDIHDT
OrthoDBi959801at2759
PhylomeDBiQ6P1N0
TreeFamiTF314229

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CC2D1A human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CC2D1A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54862
PharosiQ6P1N0 Tbio

Protein Ontology

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PROi
PR:Q6P1N0
RNActiQ6P1N0 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000132024 Expressed in 225 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ6P1N0 baseline and differential
GenevisibleiQ6P1N0 HS

Family and domain databases

CDDicd08690 C2_Freud-1, 1 hit
Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037772 C2_Freud
IPR039725 CC2D1A/B
IPR006608 DM14
PANTHERiPTHR13076 PTHR13076, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00685 DM14, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiC2D1A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6P1N0
Secondary accession number(s): Q7Z435
, Q86XV0, Q8NF89, Q9H603, Q9NXI1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: July 5, 2004
Last modified: December 11, 2019
This is version 142 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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