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UniProtKB - Q9H694 (BICC1_HUMAN)

Entry version 135 (23 Feb 2022)
Sequence version 2 (12 Dec 2006)
Previous versions | rss
Add a publicationFeedback
Protein

Protein bicaudal C homolog 1

Gene

BICC1

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

Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDevelopmental protein, RNA-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H694

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9H694

<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:
Protein bicaudal C homolog 1
Short name:
Bic-C
<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:BICC1
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:19351, BICC1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614295, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H694

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000122870

<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

Keywords - Cellular componenti

Cytoplasm

<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

Renal dysplasia, cystic (CYSRD)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionAn anomaly of the kidney characterized by numerous renal cysts and apparent disorder of differentiation of the renal parenchyma. Kidney of affected individuals lack the normal renal bean shape, and the collection drainage system. The cystic, dysplastic kidney contains undifferentiated mesenchyme, cartilaginous tissue, and immature collecting ducts.
Related information in OMIM
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_066760932E → G in CYSRD; may impair splicing; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387907124EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		80114

MalaCards human disease database

More...MalaCardsi		BICC1
MIMi601331, phenotype

Open Targets

More...OpenTargetsi		ENSG00000122870

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

More...Orphaneti		730, Autosomal dominant polycystic kidney disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134878124

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H694, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BICC1

Domain mapping of disease mutations (DMDM)

More...DMDMi		119367815

<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_00002677141 – 974Protein bicaudal C homolog 1Add BLAST974

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 residuei26PhosphoserineBy similarity1
Modified residuei31PhosphoserineBy similarity1
Modified residuei43PhosphoserineBy similarity1
Modified residuei398N6-acetyllysineCombined sources1
Modified residuei576PhosphoserineCombined sources1
Modified residuei612PhosphoserineBy similarity1
Modified residuei679PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9H694

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9H694

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H694

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9H694

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

More...PaxDbi		Q9H694

PeptideAtlas

More...PeptideAtlasi		Q9H694

PRoteomics IDEntifications database

More...PRIDEi		Q9H694

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80965 [Q9H694-1]
80966 [Q9H694-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H694

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

More...PhosphoSitePlusi		Q9H694

<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		ENSG00000122870, Expressed in kidney and 195 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H694, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H694, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000122870, Tissue enhanced (kidney)

<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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via KH domains) with ANKS6 (via SAM domain) in an RNA-dependent manner (By similarity).

Interacts with ANKS3 (By similarity).

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123119, 20 interactors

Protein interaction database and analysis system

More...IntActi		Q9H694, 4 interactors

Molecular INTeraction database

More...MINTi		Q9H694

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000362993

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H694, 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

Secondary structure

1974
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9H694

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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>Domaini132 – 199KH 1PROSITE-ProRule annotationAdd BLAST68
Domaini284 – 348KH 2PROSITE-ProRule annotationAdd BLAST65
Domaini873 – 936SAMPROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 50DisorderedSequence analysisAdd BLAST50
Regioni593 – 644DisorderedSequence analysisAdd BLAST52
Regioni665 – 719DisorderedSequence analysisAdd BLAST55
Regioni783 – 846DisorderedSequence analysisAdd BLAST64

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi593 – 619Polar residuesSequence analysisAdd BLAST27
Compositional biasi783 – 809Polar residuesSequence analysisAdd BLAST27

<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 BicC family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2208, Eukaryota
KOG4374, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156276

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008040_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H694

Identification of Orthologs from Complete Genome Data

More...OMAi		LMYPTAA

Database of Orthologous Groups

More...OrthoDBi		201055at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H694

TreeFam database of animal gene trees

More...TreeFami		TF323767

Family and domain databases

Conserved Domains Database

More...CDDi		cd09520, SAM_BICC1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.150.50, 1 hit
3.30.1370.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR037974, BICC1_SAM_dom
IPR004087, KH_dom
IPR004088, KH_dom_type_1
IPR036612, KH_dom_type_1_sf
IPR001660, SAM
IPR013761, SAM/pointed_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00013, KH_1, 2 hits
PF00536, SAM_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00322, KH, 3 hits
SM00454, SAM, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47769, SSF47769, 1 hit
SSF54791, SSF54791, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50084, KH_TYPE_1, 2 hits
PS50105, SAM_DOMAIN, 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 (2+)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 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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H694-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MAAQGEPGYL AAQSDPGSNS ERSTDSPVPG SEDDLVAGAT LHSPEWSEER 
        60         70         80         90        100
FRVDRKKLEA MLQAAAEGKG RSGEDFFQKI MEETNTQIAW PSKLKIGAKS 
       110        120        130        140        150
KKDPHIKVSG KKEDVKEAKE MIMSVLDTKS NRVTLKMDVS HTEHSHVIGK 
       160        170        180        190        200
GGNNIKKVME ETGCHIHFPD SNRNNQAEKS NQVSIAGQPA GVESARVRIR 
       210        220        230        240        250
ELLPLVLMFE LPIAGILQPV PDPNSPSIQH ISQTYNISVS FKQRSRMYGA 
       260        270        280        290        300
TVIVRGSQNN TSAVKEGTAM LLEHLAGSLA SAIPVSTQLD IAAQHHLFMM 
       310        320        330        340        350
GRNGSNIKHI MQRTGAQIHF PDPSNPQKKS TVYLQGTIES VCLARQYLMG 
       360        370        380        390        400
CLPLVLMFDM KEEIEVDPQF IAQLMEQLDV FISIKPKPKQ PSKSVIVKSV 
       410        420        430        440        450
ERNALNMYEA RKCLLGLESS GVTIATSPSP ASCPAGLACP SLDILASAGL 
       460        470        480        490        500
GLTGLGLLGP TTLSLNTSTT PNSLLNALNS SVSPLQSPSS GTPSPTLWAP 
       510        520        530        540        550
PLANTSSATG FSAIPHLMIP STAQATLTNI LLSGVPTYGH TAPSPPPGLT 
       560        570        580        590        600
PVDVHINSMQ TEGKKISAAL NGHAQSPDIK YGAISTSSLG EKVLSANHGD 
       610        620        630        640        650
PSIQTSGSEQ TSPKSSPTEG CNDAFVEVGM PRSPSHSGNA GDLKQMMCPS 
       660        670        680        690        700
KVSCAKRQTV ELLQGTKNSH LHSTDRLLSD PELSATESPL ADKKAPGSER 
       710        720        730        740        750
AAERAAAAQQ NSERAHLAPR SSYVNMQAFD YEQKKLLATK AMLKKPVVTE 
       760        770        780        790        800
VRTPTNTWSG LGFSKSMPAE TIKELRRANH VSYKPTMTTT YEGSSMSLSR 
       810        820        830        840        850
SNSREHLGGG SESDNWRDRN GIGPGSHSEF AASIGSPKRK QNKSTEHYLS 
       860        870        880        890        900
SSNYMDCISS LTGSNGCNLN SSFKGSDLPE LFSKLGLGKY TDVFQQQEID 
       910        920        930        940        950
LQTFLTLTDQ DLKELGITTF GARRKMLLAI SELNKNRRKL FESPNARTSF 
       960        970 
LEGGASGRLP RQYHSDIASV SGRW
Length:974
Mass (Da):104,844
Last modified:December 12, 2006 - v2
<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:iD2DB194BD3C8266D
GO
Isoform 2 (identifier: Q9H694-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     845-974: TEHYLSSSNY...SDIASVSGRW → SELCVLCTLL...CGLSDFKCLV

Show »
Length:880
Mass (Da):94,288
Checksum:iB9DA3F9F9AAEA61B
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NGY7A6NGY7_HUMAN
Protein bicaudal C homolog 1
BICC1
506Annotation 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 BAB15369 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0296588G → D. Corresponds to variant dbSNP:rs7905025Ensembl.1
Natural variantiVAR_072077270M → V Found in a family with atypical autism and severe epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753582128Ensembl.1
Natural variantiVAR_066759711N → T1 PublicationCorresponds to variant dbSNP:rs138916713Ensembl.1
Natural variantiVAR_066760932E → G in CYSRD; may impair splicing; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387907124EnsemblClinVar.1
Natural variantiVAR_033542943S → P. Corresponds to variant dbSNP:rs4948550Ensembl.1
Natural variantiVAR_060133945N → S. Corresponds to variant dbSNP:rs7895817EnsemblClinVar.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_021949845 – 974TEHYL…VSGRW → SELCVLCTLLGIPRLECVYL GWSITDCGLSDFKCLV in isoform 2. 1 PublicationAdd BLAST130

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
AY726586 mRNA No translation available.
AK026129 mRNA Translation: BAB15369.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31206.1 [Q9H694-1]

NCBI Reference Sequences

More...RefSeqi		NP_001073981.1, NM_001080512.2 [Q9H694-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000373886; ENSP00000362993; ENSG00000122870

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80114

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80114

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000373886.8; ENSP00000362993.3; NM_001080512.3; NP_001073981.1

UCSC genome browser

More...UCSCi		uc001jki.2, human [Q9H694-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY726586 mRNA No translation available.
AK026129 mRNA Translation: BAB15369.1 Different initiation.
CCDSiCCDS31206.1 [Q9H694-1]
RefSeqiNP_001073981.1, NM_001080512.2 [Q9H694-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RQMX-ray1.75A/B/C870-939[»]
4RQNX-ray2.00A/B/C870-939[»]
6GY4X-ray1.99A/B/C/D47-130[»]
SMRiQ9H694
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi123119, 20 interactors
IntActiQ9H694, 4 interactors
MINTiQ9H694
STRINGi9606.ENSP00000362993

PTM databases

iPTMnetiQ9H694
PhosphoSitePlusiQ9H694

Genetic variation databases

BioMutaiBICC1
DMDMi119367815

Proteomic databases

EPDiQ9H694
jPOSTiQ9H694
MassIVEiQ9H694
MaxQBiQ9H694
PaxDbiQ9H694
PeptideAtlasiQ9H694
PRIDEiQ9H694
ProteomicsDBi80965 [Q9H694-1]
80966 [Q9H694-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		51885, 165 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		80114

Genome annotation databases

EnsembliENST00000373886; ENSP00000362993; ENSG00000122870
GeneIDi80114
KEGGihsa:80114
MANE-SelectiENST00000373886.8; ENSP00000362993.3; NM_001080512.3; NP_001073981.1
UCSCiuc001jki.2, human [Q9H694-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80114
DisGeNETi80114

GeneCards: human genes, protein and diseases

More...GeneCardsi		BICC1
HGNCiHGNC:19351, BICC1
HPAiENSG00000122870, Tissue enhanced (kidney)
MalaCardsiBICC1
MIMi601331, phenotype
614295, gene
neXtProtiNX_Q9H694
OpenTargetsiENSG00000122870
Orphaneti730, Autosomal dominant polycystic kidney disease
PharmGKBiPA134878124
VEuPathDBiHostDB:ENSG00000122870

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2208, Eukaryota
KOG4374, Eukaryota
GeneTreeiENSGT00940000156276
HOGENOMiCLU_008040_0_0_1
InParanoidiQ9H694
OMAiLMYPTAA
OrthoDBi201055at2759
PhylomeDBiQ9H694
TreeFamiTF323767

Enzyme and pathway databases

PathwayCommonsiQ9H694
SignaLinkiQ9H694

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80114, 4 hits in 1042 CRISPR screens

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

More...ChiTaRSi		BICC1, human

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

More...GenomeRNAii		80114
PharosiQ9H694, Tbio

Protein Ontology

More...PROi		PR:Q9H694
RNActiQ9H694, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000122870, Expressed in kidney and 195 other tissues
ExpressionAtlasiQ9H694, baseline and differential
GenevisibleiQ9H694, HS

Family and domain databases

CDDicd09520, SAM_BICC1, 1 hit
Gene3Di1.10.150.50, 1 hit
3.30.1370.10, 1 hit
InterProiView protein in InterPro
IPR037974, BICC1_SAM_dom
IPR004087, KH_dom
IPR004088, KH_dom_type_1
IPR036612, KH_dom_type_1_sf
IPR001660, SAM
IPR013761, SAM/pointed_sf
PfamiView protein in Pfam
PF00013, KH_1, 2 hits
PF00536, SAM_1, 1 hit
SMARTiView protein in SMART
SM00322, KH, 3 hits
SM00454, SAM, 1 hit
SUPFAMiSSF47769, SSF47769, 1 hit
SSF54791, SSF54791, 3 hits
PROSITEiView protein in PROSITE
PS50084, KH_TYPE_1, 2 hits
PS50105, SAM_DOMAIN, 1 hit

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 nameiBICC1_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: Q9H694
<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: December 12, 2006
Last sequence update: December 12, 2006
Last modified: February 23, 2022
This is version 135 of the entry and version 2 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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