Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 123 (12 Aug 2020)
Sequence version 1 (21 Dec 2004)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Coiled-coil and C2 domain-containing protein 1B

Gene

CC2D1B

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.1 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

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q5T0F9

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-9668328, Sealing of the nuclear envelope (NE) by ESCRT-III

<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%5Fand%5Ftaxonomy%5Fsection">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 1B
Alternative name(s):
Five prime repressor element under dual repression-binding protein 2
Short name:
FRE under dual repression-binding protein 2
Short name:
Freud-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CC2D1B
Synonyms:KIAA1836
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000154222.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29386, CC2D1B

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5T0F9

<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

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

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000154222

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672198

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5T0F9, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CC2D1B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74744295

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002884261 – 858Coiled-coil and C2 domain-containing protein 1BAdd BLAST858

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 residuei209PhosphoserineCombined sources1
Modified residuei593PhosphoserineBy similarity1
Modified residuei596PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5T0F9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5T0F9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5T0F9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5T0F9

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

More...
PaxDbi
Q5T0F9

PeptideAtlas

More...
PeptideAtlasi
Q5T0F9

PRoteomics IDEntifications database

More...
PRIDEi
Q5T0F9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
64156 [Q5T0F9-1]
64157 [Q5T0F9-2]
64158 [Q5T0F9-3]
64159 [Q5T0F9-4]
64160 [Q5T0F9-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5T0F9

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

More...
PhosphoSitePlusi
Q5T0F9

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely distributed in brain and peripheral tissues.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000154222, Expressed in left lobe of thyroid gland and 185 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5T0F9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5T0F9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000154222, Low tissue specificity

<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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
128291, 22 interactors

Protein interaction database and analysis system

More...
IntActi
Q5T0F9, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000360642

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5T0F9, 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
Q5T0F9

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%5Fand%5Fdomains%5Fsection">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>Domaini676 – 815C2PROSITE-ProRule annotationAdd BLAST140

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 coili166 – 212Sequence analysisAdd BLAST47
Coiled coili611 – 635Sequence analysisAdd BLAST25

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 biasi91 – 143Glu-richAdd BLAST53
Compositional biasi222 – 279Pro-richAdd BLAST58

<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

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000009595

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5T0F9

KEGG Orthology (KO)

More...
KOi
K18260

Identification of Orthologs from Complete Genome Data

More...
OMAi
AKMADEC

Database of Orthologous Groups

More...
OrthoDBi
959801at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5T0F9

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

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50004, C2, 1 hit

<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%5Flength">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 (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 5 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5T0F9-1) [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
MMPGPRPRKG PQARGQGVAA AKQMGLFMEF GPEDMLLGMD EAEDDEDLEA
60 70 80 90 100
ELLALTGEAQ TTGKKPAPKG QAPLPMAHIE KLAADCMRDV EEEEEEEGLE
110 120 130 140 150
EDAELLTELQ EVLGVDEETE PLDGDEVADP GGSEEENGLE DTEPPVQTAV
160 170 180 190 200
LTASAPAAQA GASQGLHALL EERIHNYREA AASAKEAGEA AKARRCERGL
210 220 230 240 250
KTLESQLASV RRGRKINEDE IPPPVALGKR PLAPQEPANR SPETDPPAPP
260 270 280 290 300
ALESDNPSQP ETSLPGISAQ PVSDLDPDPR ALLSSRQREY KVAALSAKRA
310 320 330 340 350
GELDRARELM RIGKRFGAVL EALEKGQPVD LSAMPPAPED LKPQQASQAP
360 370 380 390 400
TAPSVIPPAV ERVQPVMAPD VPATPVAPTE SQTVLDALQQ RLNKYREAGI
410 420 430 440 450
QARSGGDERK ARMHERIAKQ YQDAIRAHRA GRKVNFAELP VPPGFPPIPG
460 470 480 490 500
LESTMGVEED AVAATLAAAE KLASAEDSAP ADKDEDEPPG HLQGEPPAQA
510 520 530 540 550
PVAKKPARPT VPSSQRLPEP RASSSKESPS PSVREQLALL EARKLQYQRA
560 570 580 590 600
ALQAKRSQDL EQAKAYLRVA KWLEAQIIQA RSGRPVDLSK VPSPLTDEEG
610 620 630 640 650
DFILIHHEDL RLSQKAEEVY AQLQKMLLEQ QEKCLLFSKQ FMHQGNVAET
660 670 680 690 700
TRFEKLAQDR KKQLEILQLA QAQGLDPPTH HFELKTFQTV RIFSELNSTE
710 720 730 740 750
MHLIIVRGMN LPAPPGVTPD DLDAFVRFEF HYPNSDQAQK SKTAVVKNTN
760 770 780 790 800
SPEFDQLFKL NINRNHRGFK RVIQSKGIKF EIFHKGSFFR SDKLVGTAHL
810 820 830 840 850
KLERLENECE IREIVEVLDG RKPTGGKLEV KVRLREPLSG QDVQMVTENW

LVLEPRGL
Length:858
Mass (Da):94,224
Last modified:December 21, 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:i338DC0A1ED792CDA
GO
Isoform 2 (identifier: Q5T0F9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     488-493: Missing.

Show »
Length:852
Mass (Da):93,595
Checksum:iC494448E2DF76987
GO
Isoform 3 (identifier: Q5T0F9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-309: Missing.
     488-493: Missing.
     832-858: VRLREPLSGQDVQMVTENWLVLEPRGL → PMASTRRGVRPRLCRR

Show »
Length:532
Mass (Da):59,372
Checksum:i2480943BE20DF555
GO
Isoform 4 (identifier: Q5T0F9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-625: Missing.
     817-858: VLDGRKPTGGKLEVKVRLREPLSGQDVQMVTENWLVLEPRGL → MERFRRSEKSHRGTQEKAASLFP

Show »
Length:214
Mass (Da):24,969
Checksum:iC0CACB7B60DEFC07
GO
Isoform 5 (identifier: Q5T0F9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     104-123: ELLTELQEVLGVDEETEPLD → GRDCAGDDFPSFAGFRSLCT
     124-858: Missing.

Show »
Length:123
Mass (Da):13,229
Checksum:i9F32143025319246
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
H7C1U3H7C1U3_HUMAN
Coiled-coil and C2 domain-containin...
CC2D1B
672Annotation score:

Annotation score:2 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>
H0Y517H0Y517_HUMAN
Coiled-coil and C2 domain-containin...
CC2D1B
628Annotation score:

Annotation score:2 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 BAC85450 differs from that shown.Curated

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_06219135M → T. Corresponds to variant dbSNP:rs11555349Ensembl.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_0256581 – 625Missing in isoform 4. 1 PublicationAdd BLAST625
Alternative sequenceiVSP_0256571 – 309Missing in isoform 3. 1 PublicationAdd BLAST309
Alternative sequenceiVSP_025662104 – 123ELLTE…TEPLD → GRDCAGDDFPSFAGFRSLCT in isoform 5. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_025663124 – 858Missing in isoform 5. 1 PublicationAdd BLAST735
Alternative sequenceiVSP_025659488 – 493Missing in isoform 2 and isoform 3. 1 Publication6
Alternative sequenceiVSP_025660817 – 858VLDGR…EPRGL → MERFRRSEKSHRGTQEKAAS LFP in isoform 4. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_025661832 – 858VRLRE…EPRGL → PMASTRRGVRPRLCRR in isoform 3. 1 PublicationAdd BLAST27

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
AK130874 mRNA Translation: BAC85450.1 Sequence problems.
AL513218 Genomic DNA No translation available.
BC007912 mRNA Translation: AAH07912.2
BC016880 mRNA Translation: AAH16880.1
BC039308 mRNA Translation: AAH39308.1
AB058739 mRNA Translation: BAB47465.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30714.1 [Q5T0F9-1]
CCDS81323.1 [Q5T0F9-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001317514.1, NM_001330585.1 [Q5T0F9-2]
NP_115825.1, NM_032449.2 [Q5T0F9-1]
XP_005270647.1, XM_005270590.2 [Q5T0F9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000284376; ENSP00000284376; ENSG00000154222 [Q5T0F9-2]
ENST00000371586; ENSP00000360642; ENSG00000154222 [Q5T0F9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
200014

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:200014

UCSC genome browser

More...
UCSCi
uc001ctq.3, human [Q5T0F9-1]

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
AK130874 mRNA Translation: BAC85450.1 Sequence problems.
AL513218 Genomic DNA No translation available.
BC007912 mRNA Translation: AAH07912.2
BC016880 mRNA Translation: AAH16880.1
BC039308 mRNA Translation: AAH39308.1
AB058739 mRNA Translation: BAB47465.1
CCDSiCCDS30714.1 [Q5T0F9-1]
CCDS81323.1 [Q5T0F9-2]
RefSeqiNP_001317514.1, NM_001330585.1 [Q5T0F9-2]
NP_115825.1, NM_032449.2 [Q5T0F9-1]
XP_005270647.1, XM_005270590.2 [Q5T0F9-1]

3D structure databases

SMRiQ5T0F9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128291, 22 interactors
IntActiQ5T0F9, 8 interactors
STRINGi9606.ENSP00000360642

PTM databases

iPTMnetiQ5T0F9
PhosphoSitePlusiQ5T0F9

Polymorphism and mutation databases

BioMutaiCC2D1B
DMDMi74744295

Proteomic databases

EPDiQ5T0F9
jPOSTiQ5T0F9
MassIVEiQ5T0F9
MaxQBiQ5T0F9
PaxDbiQ5T0F9
PeptideAtlasiQ5T0F9
PRIDEiQ5T0F9
ProteomicsDBi64156 [Q5T0F9-1]
64157 [Q5T0F9-2]
64158 [Q5T0F9-3]
64159 [Q5T0F9-4]
64160 [Q5T0F9-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
33001, 60 antibodies

Genome annotation databases

EnsembliENST00000284376; ENSP00000284376; ENSG00000154222 [Q5T0F9-2]
ENST00000371586; ENSP00000360642; ENSG00000154222 [Q5T0F9-1]
GeneIDi200014
KEGGihsa:200014
UCSCiuc001ctq.3, human [Q5T0F9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
200014
EuPathDBiHostDB:ENSG00000154222.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CC2D1B
HGNCiHGNC:29386, CC2D1B
HPAiENSG00000154222, Low tissue specificity
neXtProtiNX_Q5T0F9
OpenTargetsiENSG00000154222
PharmGKBiPA142672198

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3837, Eukaryota
GeneTreeiENSGT00390000009595
InParanoidiQ5T0F9
KOiK18260
OMAiAKMADEC
OrthoDBi959801at2759
PhylomeDBiQ5T0F9
TreeFamiTF314229

Enzyme and pathway databases

PathwayCommonsiQ5T0F9
ReactomeiR-HSA-9668328, Sealing of the nuclear envelope (NE) by ESCRT-III

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
200014, 11 hits in 876 CRISPR screens

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

More...
ChiTaRSi
CC2D1B, human

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

More...
GenomeRNAii
200014
PharosiQ5T0F9, Tdark

Protein Ontology

More...
PROi
PR:Q5T0F9
RNActiQ5T0F9, protein

Gene expression databases

BgeeiENSG00000154222, Expressed in left lobe of thyroid gland and 185 other tissues
ExpressionAtlasiQ5T0F9, baseline and differential
GenevisibleiQ5T0F9, 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
PROSITEiView protein in PROSITE
PS50004, C2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiC2D1B_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: Q5T0F9
Secondary accession number(s): Q49AE8
, Q5T0F8, Q5T0G0, Q6ZNQ1, Q96AP3, Q96I04, Q96JJ1
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: December 21, 2004
Last modified: August 12, 2020
This is version 123 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again